psui3905/ncbi_genes_summary huggingface dataset:
SLPI, Official Symbol SLPIprovided by HGNC Official Full Name secretory leukocyte peptidase inhibitorprovided by HGNC Primary source HGNC:HGNC:11092 See related Ensembl:ENSG00000124107 MIM:107285; AllianceGenome:HGNC:11092 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ALP; MPI; ALK1; BLPI; HUSI; WAP4; WFDC4; HUSI-I Summary This gene encodes a secreted inhibitor which protects epithelial tissues from serine proteases. It is found in various secretions including seminal plasma, cervical mucus, and bronchial secretions, and has affinity for trypsin, leukocyte elastase, and cathepsin G. Its inhibitory effect contributes to the immune response by protecting epithelial surfaces from attack by endogenous proteolytic enzymes. This antimicrobial protein has antibacterial, antifungal and antiviral activity. [provided by RefSeq, Nov 2014] Expression Biased expression in salivary gland (RPKM 1077.5), lung (RPKM 390.4) and 4 other tissues See more Orthologs mouse all
SLTM, Official Symbol SLTMprovided by HGNC Official Full Name SAFB like transcription modulatorprovided by HGNC Primary source HGNC:HGNC:20709 See related Ensembl:ENSG00000137776 AllianceGenome:HGNC:20709 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Met Summary Enables RNA binding activity. Predicted to be involved in regulation of mRNA processing and regulation of transcription by RNA polymerase II. Located in nuclear body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 26.9), thyroid (RPKM 20.0) and 25 other tissues See more Orthologs mouse all
SLU7, Official Symbol SLU7provided by HGNC Official Full Name SLU7 homolog, splicing factorprovided by HGNC Primary source HGNC:HGNC:16939 See related Ensembl:ENSG00000164609 MIM:605974; AllianceGenome:HGNC:16939 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as 9G8; hSlu7 Summary Pre-mRNA splicing occurs in two sequential transesterification steps. The protein encoded by this gene is a splicing factor that has been found to be essential during the second catalytic step in the pre-mRNA splicing process. It associates with the spliceosome and contains a zinc knuckle motif that is found in other splicing factors and is involved in protein-nucleic acid and protein-protein interactions. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 16.4), thyroid (RPKM 15.4) and 25 other tissues See more Orthologs mouse all
SLURP1, Official Symbol SLURP1provided by HGNC Official Full Name secreted LY6/PLAUR domain containing 1provided by HGNC Primary source HGNC:HGNC:18746 See related Ensembl:ENSG00000126233 MIM:606119; AllianceGenome:HGNC:18746 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARS; MDM; ANUP; ArsB; LY6LS; LY6-MT Summary The protein encoded by this gene is a member of the Ly6/uPAR family but lacks a GPI-anchoring signal sequence. It is thought that this secreted protein contains antitumor activity. Mutations in this gene have been associated with Mal de Meleda, a rare autosomal recessive skin disorder. This gene maps to the same chromosomal region as several members of the Ly6/uPAR family of glycoprotein receptors. [provided by RefSeq, Jul 2008] Expression Restricted expression toward esophagus (RPKM 167.7) See more Orthologs mouse all
SLURP2, Official Symbol SLURP2provided by HGNC Official Full Name secreted LY6/PLAUR domain containing 2provided by HGNC Primary source HGNC:HGNC:25549 See related Ensembl:ENSG00000283992 AllianceGenome:HGNC:25549 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SLURP-2 Summary This gene encodes a novel, secreted member of the Ly6/uPAR (LU) superfamily of proteins containing the unique three-finger LU domain. This gene is mainly expressed in epithelial cells, including skin and keratinocytes, and is up-regulated in psoriatic skin lesions, suggesting its involvement in the pathophysiology of psoriasis. Alternatively spliced transcript variants have been found for this gene. Read-through transcription from the neighboring upstream gene (LYNX1) generates naturally-occurring transcripts (LYNX1-SLURP2) that encode a fusion protein comprised of sequence sharing identity with each individual gene product. [provided by RefSeq, Sep 2017] Orthologs mouse all
SLX1A, Official Symbol SLX1Aprovided by HGNC Official Full Name SLX1 homolog A, structure-specific endonuclease subunitprovided by HGNC Primary source HGNC:HGNC:20922 See related Ensembl:ENSG00000132207 MIM:615822; AllianceGenome:HGNC:20922 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GIYD1 Summary This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more centromeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) gene. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in duodenum (RPKM 34.0), small intestine (RPKM 29.1) and 24 other tissues See more Orthologs mouse all
SLX1A-SULT1A3, Official Symbol SLX1A-SULT1A3provided by HGNC Official Full Name SLX1A-SULT1A3 readthrough (NMD candidate)provided by HGNC Primary source HGNC:HGNC:44437 See related Ensembl:ENSG00000213599 AllianceGenome:HGNC:44437 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as STM; HAST3; M-PST; ST1A3; TL-PST; SULT1A3 Summary This locus represents naturally occurring read-through transcription between the neighboring SLX1A (SLX1 structure-specific endonuclease subunit homolog A) and SULT1A3 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 3) genes on the short arm of chromosome 16. A duplicate read-through locus also exists between the SLX1B and SULT1A4 genes located approximately 730 kb upstream on the same chromosome. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2017] Expression Broad expression in duodenum (RPKM 93.8), small intestine (RPKM 66.4) and 24 other tissues See more
SLX1B, Official Symbol SLX1Bprovided by HGNC Official Full Name SLX1 homolog B, structure-specific endonuclease subunitprovided by HGNC Primary source HGNC:HGNC:28748 See related Ensembl:ENSG00000181625 MIM:615823; AllianceGenome:HGNC:28748 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as GIYD2 Summary This gene encodes a protein that is an important regulator of genome stability. The protein represents the catalytic subunit of the SLX1-SLX4 structure-specific endonuclease, which can resolve DNA secondary structures that are formed during repair and recombination processes. Two identical copies of this gene are located on the p arm of chromosome 16 due to a segmental duplication; this record represents the more telomeric copy. Alternative splicing results in multiple transcript variants. Read-through transcription also occurs between this gene and the downstream SULT1A4 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4) gene. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in duodenum (RPKM 33.7), small intestine (RPKM 28.9) and 24 other tissues See more Orthologs all
SLX1B-SULT1A4, Official Symbol SLX1B-SULT1A4provided by HGNC Official Full Name SLX1B-SULT1A4 readthrough (NMD candidate)provided by HGNC Primary source HGNC:HGNC:48353 See related Ensembl:ENSG00000260280 AllianceGenome:HGNC:48353 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This locus represents naturally occurring read-through transcription between the neighboring SLX1B (SLX1 structure-specific endonuclease subunit homolog B) and SULT1A4 (sulfotransferase family, cytosolic, 1A, phenol-preferring, member 4) genes on the short arm of chromosome 16. A duplicate read-through locus also exists between the SLX1A and SULT1A3 genes located approximately 730 kb downstream on the same chromosome. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Feb 2017] Expression Broad expression in duodenum (RPKM 93.4), small intestine (RPKM 66.2) and 24 other tissues See more
SLX4, Official Symbol SLX4provided by HGNC Official Full Name SLX4 structure-specific endonuclease subunitprovided by HGNC Primary source HGNC:HGNC:23845 See related Ensembl:ENSG00000188827 MIM:613278; AllianceGenome:HGNC:23845 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as FANCP; BTBD12; MUS312 Summary This gene encodes a protein that functions as an assembly component of multiple structure-specific endonucleases. These endonuclease complexes are required for repair of specific types of DNA lesions and critical for cellular responses to replication fork failure. Mutations in this gene were found in patients with Fanconi anemia. [provided by RefSeq, Sep 2016] Expression Broad expression in testis (RPKM 5.9), lymph node (RPKM 2.0) and 22 other tissues See more Orthologs mouse all
SLX4IP, Official Symbol SLX4IPprovided by HGNC Official Full Name SLX4 interacting proteinprovided by HGNC Primary source HGNC:HGNC:16225 See related Ensembl:ENSG00000149346 MIM:615958; AllianceGenome:HGNC:16225 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C20orf94; bA204H22.1; bA254M13.1; dJ1099D15.3 Expression Ubiquitous expression in skin (RPKM 1.0), testis (RPKM 0.9) and 25 other tissues See more Orthologs mouse all
SMAD1, Official Symbol SMAD1provided by HGNC Official Full Name SMAD family member 1provided by HGNC Primary source HGNC:HGNC:6767 See related Ensembl:ENSG00000170365 MIM:601595; AllianceGenome:HGNC:6767 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BSP1; JV41; BSP-1; JV4-1; MADH1; MADR1 Summary The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signals of the bone morphogenetic proteins (BMPs), which are involved in a range of biological activities including cell growth, apoptosis, morphogenesis, development and immune responses. In response to BMP ligands, this protein can be phosphorylated and activated by the BMP receptor kinase. The phosphorylated form of this protein forms a complex with SMAD4, which is important for its function in the transcription regulation. This protein is a target for SMAD-specific E3 ubiquitin ligases, such as SMURF1 and SMURF2, and undergoes ubiquitination and proteasome-mediated degradation. Alternatively spliced transcript variants encoding the same protein have been observed. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 11.3), brain (RPKM 9.3) and 25 other tissues See more Orthologs mouse all
SMAD1-AS1, Official Symbol SMAD1-AS1provided by HGNC Official Full Name SMAD1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49379 See related Ensembl:ENSG00000250902 AllianceGenome:HGNC:49379 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Ubiquitous expression in endometrium (RPKM 12.7), fat (RPKM 9.3) and 25 other tissues See more
SMAD1-AS2, Official Symbol SMAD1-AS2provided by HGNC Official Full Name SMAD1 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:49381 See related Ensembl:ENSG00000250582 AllianceGenome:HGNC:49381 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Restricted expression toward testis (RPKM 10.5) See more
SMAD2, Official Symbol SMAD2provided by HGNC Official Full Name SMAD family member 2provided by HGNC Primary source HGNC:HGNC:6768 See related Ensembl:ENSG00000175387 MIM:601366; AllianceGenome:HGNC:6768 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JV18; LDS6; CHTD8; MADH2; MADR2; JV18-1; hMAD-2; hSMAD2 Summary The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012] Expression Ubiquitous expression in thyroid (RPKM 6.6), testis (RPKM 4.0) and 25 other tissues See more Orthologs mouse all
SMAD3, Official Symbol SMAD3provided by HGNC Official Full Name SMAD family member 3provided by HGNC Primary source HGNC:HGNC:6769 See related Ensembl:ENSG00000166949 MIM:603109; AllianceGenome:HGNC:6769 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LDS3; mad3; LDS1C; MADH3; JV15-2; hMAD-3; hSMAD3; HSPC193; HsT17436 Summary The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. This protein forms a complex with other SMAD proteins and binds DNA, functioning both as a transcription factor and tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, May 2022] Expression Ubiquitous expression in urinary bladder (RPKM 13.6), ovary (RPKM 13.1) and 25 other tissues See more Orthologs mouse all
SMAD4, Official Symbol SMAD4provided by HGNC Official Full Name SMAD family member 4provided by HGNC Primary source HGNC:HGNC:6770 See related Ensembl:ENSG00000141646 MIM:600993; AllianceGenome:HGNC:6770 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JIP; DPC4; MADH4; MYHRS Summary This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The protein acts as a tumor suppressor and inhibits epithelial cell proliferation. It may also have an inhibitory effect on tumors by reducing angiogenesis and increasing blood vessel hyperpermeability. The encoded protein is a crucial component of the bone morphogenetic protein signaling pathway. The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, May 2022] Expression Ubiquitous expression in thyroid (RPKM 12.0), endometrium (RPKM 10.8) and 25 other tissues See more Orthologs mouse all
SMAD5, Official Symbol SMAD5provided by HGNC Official Full Name SMAD family member 5provided by HGNC Primary source HGNC:HGNC:6771 See related Ensembl:ENSG00000113658 MIM:603110; AllianceGenome:HGNC:6771 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DWFC; JV5-1; MADH5 Summary The protein encoded by this gene is involved in the transforming growth factor beta signaling pathway that results in an inhibition of the proliferation of hematopoietic progenitor cells. The encoded protein is activated by bone morphogenetic proteins type 1 receptor kinase, and may be involved in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Expression Ubiquitous expression in endometrium (RPKM 14.1), ovary (RPKM 13.4) and 25 other tissues See more Orthologs mouse all
SMAD5-AS1, Official Symbol SMAD5-AS1provided by HGNC Official Full Name SMAD5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:30586 See related Ensembl:ENSG00000164621 MIM:620035; AllianceGenome:HGNC:30586 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as DAMS; SMAD5AS; SMAD5OS Summary Predicted to be involved in signal transduction. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 1.2), liver (RPKM 0.3) and 16 other tissues See more
SMAD6, Official Symbol SMAD6provided by HGNC Official Full Name SMAD family member 6provided by HGNC Primary source HGNC:HGNC:6772 See related Ensembl:ENSG00000137834 MIM:602931; AllianceGenome:HGNC:6772 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as AOVD2; MADH6; MADH7; HsT17432 Summary The protein encoded by this gene belongs to the SMAD family of proteins, which are related to Drosophila 'mothers against decapentaplegic' (Mad) and C. elegans Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein functions in the negative regulation of BMP and TGF-beta/activin-signalling. Multiple transcript variants have been found for this gene.[provided by RefSeq, Sep 2014] Expression Broad expression in lung (RPKM 6.3), placenta (RPKM 2.8) and 18 other tissues See more Orthologs mouse all
SMAD7, Official Symbol SMAD7provided by HGNC Official Full Name SMAD family member 7provided by HGNC Primary source HGNC:HGNC:6773 See related Ensembl:ENSG00000101665 MIM:602932; AllianceGenome:HGNC:6773 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CRCS3; MADH7; MADH8 Summary The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010] Expression Ubiquitous expression in lung (RPKM 15.3), placenta (RPKM 11.2) and 25 other tissues See more Orthologs mouse all
SMAD9, Official Symbol SMAD9provided by HGNC Official Full Name SMAD family member 9provided by HGNC Primary source HGNC:HGNC:6774 See related Ensembl:ENSG00000120693 MIM:603295; AllianceGenome:HGNC:6774 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PPH2; MADH6; MADH9; SMAD8; SMAD8A; SMAD8B; SMAD8/9 Summary The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jan 2010] Expression Broad expression in thyroid (RPKM 18.3), prostate (RPKM 5.8) and 17 other tissues See more Orthologs mouse all
SMAGP, Official Symbol SMAGPprovided by HGNC Official Full Name small cell adhesion glycoproteinprovided by HGNC Primary source HGNC:HGNC:26918 See related Ensembl:ENSG00000170545 AllianceGenome:HGNC:26918 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as hSMAGP Summary Located in cell junction; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 50.1), esophagus (RPKM 27.8) and 16 other tissues See more Orthologs mouse all
SMAP1, Official Symbol SMAP1provided by HGNC Official Full Name small ArfGAP 1provided by HGNC Primary source HGNC:HGNC:19651 See related Ensembl:ENSG00000112305 MIM:611372; AllianceGenome:HGNC:19651 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SMAP-1 Summary The protein encoded by this gene is similar to the mouse stromal membrane-associated protein-1. This similarity suggests that this human gene product is also a type II membrane glycoprotein involved in the erythropoietic stimulatory activity of stromal cells. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 17.8), esophagus (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
SMAP2, Official Symbol SMAP2provided by HGNC Official Full Name small ArfGAP2provided by HGNC Primary source HGNC:HGNC:25082 See related Ensembl:ENSG00000084070 MIM:616916; AllianceGenome:HGNC:25082 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SMAP1L Summary Predicted to enable GTPase activator activity. Predicted to be involved in regulation of catalytic activity. Predicted to be located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in lymph node (RPKM 80.3), spleen (RPKM 58.9) and 23 other tissues See more Orthologs mouse all
SMARCA1, Official Symbol SMARCA1provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1provided by HGNC Primary source HGNC:HGNC:11097 See related Ensembl:ENSG00000102038 MIM:300012; AllianceGenome:HGNC:11097 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SWI; ISWI; SWI2; SNF2L; SNF2L1; SNF2LB; SNF2LT; hSNF2L; NURF140 Summary This gene encodes a member of the SWI/SNF family of proteins. The encoded protein is an ATPase which is expressed in diverse tissues and contributes to the chromatin remodeling complex that is involved in transcription. The protein may also play a role in DNA damage, growth inhibition and apoptosis of cancer cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] Expression Broad expression in adrenal (RPKM 46.7), testis (RPKM 43.0) and 22 other tissues See more Orthologs mouse all
SMARCA2, Official Symbol SMARCA2provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2provided by HGNC Primary source HGNC:HGNC:11098 See related Ensembl:ENSG00000080503 MIM:600014; AllianceGenome:HGNC:11098 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BIS; BRM; SNF2; SWI2; hBRM; NCBRS; Sth1p; BAF190; SNF2L2; SNF2LA; hSNF2a Summary The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in ovary (RPKM 42.5), testis (RPKM 29.4) and 25 other tissues See more Orthologs mouse all
SMARCA4, Official Symbol SMARCA4provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4provided by HGNC Primary source HGNC:HGNC:11100 See related Ensembl:ENSG00000127616 MIM:603254; AllianceGenome:HGNC:11100 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BRG1; CSS4; SNF2; SWI2; MRD16; RTPS2; BAF190; SNF2L4; SNF2LB; hSNF2b; BAF190A; SNF2-beta Summary The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] Expression Ubiquitous expression in testis (RPKM 21.8), brain (RPKM 14.5) and 25 other tissues See more Orthologs mouse all
SMARCA5, Official Symbol SMARCA5provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5provided by HGNC Primary source HGNC:HGNC:11101 See related Ensembl:ENSG00000153147 MIM:603375; AllianceGenome:HGNC:11101 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ISWI; SNF2H; hISWI; hSNF2H; WCRF135 Summary The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The protein encoded by this gene is a component of the chromatin remodeling and spacing factor RSF, a facilitator of the transcription of class II genes by RNA polymerase II. The encoded protein is similar in sequence to the Drosophila ISWI chromatin remodeling protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 25.1), lung (RPKM 17.3) and 25 other tissues See more Orthologs mouse all
SMARCA5-AS1, Official Symbol SMARCA5-AS1provided by HGNC Official Full Name SMARCA5 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:39982 See related Ensembl:ENSG00000245112 AllianceGenome:HGNC:39982 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Broad expression in colon (RPKM 4.4), kidney (RPKM 4.2) and 25 other tissues See more
SMARCAD1, Official Symbol SMARCAD1provided by HGNC Official Full Name SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1provided by HGNC Primary source HGNC:HGNC:18398 See related Ensembl:ENSG00000163104 MIM:612761; AllianceGenome:HGNC:18398 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HRZ; TYS; ETL1; HEL1; ADERM; BASNS Summary This gene encodes a member of the SNF subfamily of helicase proteins. The encoded protein plays a critical role in the restoration of heterochromatin organization and propagation of epigenetic patterns following DNA replication by mediating histone H3/H4 deacetylation. Mutations in this gene are associated with adermatoglyphia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in thyroid (RPKM 8.6), testis (RPKM 7.8) and 25 other tissues See more Orthologs mouse all
SMARCAL1, Official Symbol SMARCAL1provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1provided by HGNC Primary source HGNC:HGNC:11102 See related Ensembl:ENSG00000138375 MIM:606622; AllianceGenome:HGNC:11102 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HARP; HHARP Summary The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in ovary (RPKM 7.5), testis (RPKM 7.2) and 25 other tissues See more Orthologs mouse all
SMARCB1, Official Symbol SMARCB1provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1provided by HGNC Primary source HGNC:HGNC:11103 See related Ensembl:ENSG00000099956 MIM:601607; AllianceGenome:HGNC:11103 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RDT; CSS3; INI1; SNF5; Snr1; BAF47; INI-1; MRD15; RTPS1; Sfh1p; hSNFS; SNF5L1; SWNTS1; PPP1R144 Summary The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor, and mutations in it have been associated with malignant rhabdoid tumors. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in testis (RPKM 42.3), ovary (RPKM 34.2) and 25 other tissues See more Orthologs mouse all
SMARCC1, Official Symbol SMARCC1provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1provided by HGNC Primary source HGNC:HGNC:11104 See related Ensembl:ENSG00000173473 MIM:601732; AllianceGenome:HGNC:11104 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HYC5; Rsc8; SRG3; SWI3; BAF155; CRACC1 Summary The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 18.4), endometrium (RPKM 15.8) and 25 other tissues See more Orthologs mouse all
SMARCC2, Official Symbol SMARCC2provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2provided by HGNC Primary source HGNC:HGNC:11105 See related Ensembl:ENSG00000139613 MIM:601734; AllianceGenome:HGNC:11105 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CSS8; Rsc8; BAF170; CRACC2 Summary The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 28.0), ovary (RPKM 22.4) and 25 other tissues See more Orthologs mouse all
SMARCD1, Official Symbol SMARCD1provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1provided by HGNC Primary source HGNC:HGNC:11106 See related Ensembl:ENSG00000066117 MIM:601735; AllianceGenome:HGNC:11106 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CSS11; Rsc6p; BAF60A; CRACD1 Summary The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 14.1), testis (RPKM 13.9) and 25 other tissues See more Orthologs mouse all
SMARCD2, Official Symbol SMARCD2provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2provided by HGNC Primary source HGNC:HGNC:11107 See related Ensembl:ENSG00000108604 MIM:601736; AllianceGenome:HGNC:11107 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SGD2; Rsc6p; BAF60B; CRACD2; PRO2451 Summary The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 24.5), esophagus (RPKM 18.0) and 25 other tissues See more Orthologs mouse all
SMARCD3, Official Symbol SMARCD3provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3provided by HGNC Primary source HGNC:HGNC:11108 See related Ensembl:ENSG00000082014 MIM:601737; AllianceGenome:HGNC:11108 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Rsc6p; BAF60C; CRACD3 Summary The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and has sequence similarity to the yeast Swp73 protein. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 23.8), heart (RPKM 18.1) and 23 other tissues See more Orthologs mouse all
SMARCE1, Official Symbol SMARCE1provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1provided by HGNC Primary source HGNC:HGNC:11109 See related Ensembl:ENSG00000073584 MIM:603111; AllianceGenome:HGNC:11109 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CSS5; BAF57 Summary The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in endometrium (RPKM 61.3), ovary (RPKM 41.8) and 25 other tissues See more Orthologs mouse all
SMARCE1P1, Official Symbol SMARCE1P1provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39731 See related Ensembl:ENSG00000225215 AllianceGenome:HGNC:39731 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SMARCE1P2, Official Symbol SMARCE1P2provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:39732 See related Ensembl:ENSG00000226309 AllianceGenome:HGNC:39732 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SMARCE1P3, Official Symbol SMARCE1P3provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:39733 See related Ensembl:ENSG00000259102 AllianceGenome:HGNC:39733 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SMARCE1P5, Official Symbol SMARCE1P5provided by HGNC Official Full Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:39734 See related Ensembl:ENSG00000230793 AllianceGenome:HGNC:39734 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SMBD1P, Official Symbol SMBD1Pprovided by HGNC Official Full Name somatomedin B domain containing 1, pseudogeneprovided by HGNC Primary source HGNC:HGNC:53806 See related Ensembl:ENSG00000283426 AllianceGenome:HGNC:53806 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SMC1A, Official Symbol SMC1Aprovided by HGNC Official Full Name structural maintenance of chromosomes 1Aprovided by HGNC Primary source HGNC:HGNC:11111 See related Ensembl:ENSG00000072501 MIM:300040; AllianceGenome:HGNC:11111 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SMC1; SMCB; CDLS2; DEE85; SB1.8; EIEE85; SMC1L1; DXS423E; SMC1alpha Summary Proper cohesion of sister chromatids is a prerequisite for the correct segregation of chromosomes during cell division. The cohesin multiprotein complex is required for sister chromatid cohesion. This complex is composed partly of two structural maintenance of chromosomes (SMC) proteins, SMC3 and either SMC1B or the protein encoded by this gene. Most of the cohesin complexes dissociate from the chromosomes before mitosis, although those complexes at the kinetochore remain. Therefore, the encoded protein is thought to be an important part of functional kinetochores. In addition, this protein interacts with BRCA1 and is phosphorylated by ATM, indicating a potential role for this protein in DNA repair. This gene, which belongs to the SMC gene family, is located in an area of the X-chromosome that escapes X inactivation. Mutations in this gene result in Cornelia de Lange syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in lymph node (RPKM 13.2), appendix (RPKM 13.1) and 25 other tissues See more Orthologs mouse all
SMC1B, Official Symbol SMC1Bprovided by HGNC Official Full Name structural maintenance of chromosomes 1Bprovided by HGNC Primary source HGNC:HGNC:11112 See related Ensembl:ENSG00000077935 MIM:608685; AllianceGenome:HGNC:11112 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SMC1L2; SMC1BETA Summary SMC1L2 belongs to a family of proteins required for chromatid cohesion and DNA recombination during meiosis and mitosis (3:Revenkova et al., 2001 [PubMed 11564881]).[supplied by OMIM, Mar 2008] Expression Restricted expression toward testis (RPKM 20.7) See more Orthologs mouse all