psui3905/ncbi_genes_summary huggingface dataset:
SIRT5, Official Symbol SIRT5provided by HGNC Official Full Name sirtuin 5provided by HGNC Primary source HGNC:HGNC:14933 See related Ensembl:ENSG00000124523 MIM:604483; AllianceGenome:HGNC:14933 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 SIR2L5 Summary This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class III of the sirtuin family. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2010] Expression Ubiquitous expression in heart (RPKM 3.7), liver (RPKM 2.6) and 25 other tissues See more Orthologs mouse all
SIRT6, Official Symbol SIRT6provided by HGNC Official Full Name sirtuin 6provided by HGNC Primary source HGNC:HGNC:14934 See related Ensembl:ENSG00000077463 MIM:606211; AllianceGenome:HGNC:14934 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 SIR2L6; hSIRT6 Summary This gene encodes a member of the sirtuin family of NAD-dependent enzymes that are implicated in cellular stress resistance, genomic stability, aging and energy homeostasis. The encoded protein is localized to the nucleus, exhibits ADP-ribosyl transferase and histone deacetylase activities, and plays a role in DNA repair, maintenance of telomeric chromatin, inflammation, lipid and glucose metabolism. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in colon (RPKM 11.3), spleen (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
SIRT7, Official Symbol SIRT7provided by HGNC Official Full Name sirtuin 7provided by HGNC Primary source HGNC:HGNC:14935 See related Ensembl:ENSG00000187531 MIM:606212; AllianceGenome:HGNC:14935 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 SIR2L7 Summary This gene encodes a member of the sirtuin family of proteins, homologs to the yeast Sir2 protein. Members of the sirtuin family are characterized by a sirtuin core domain and grouped into four classes. The functions of human sirtuins have not yet been determined; however, yeast sirtuin proteins are known to regulate epigenetic gene silencing and suppress recombination of rDNA. Studies suggest that the human sirtuins may function as intracellular regulatory proteins with mono-ADP-ribosyltransferase activity. The protein encoded by this gene is included in class IV of the sirtuin family. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in stomach (RPKM 8.5), bone marrow (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
SIT1, Official Symbol SIT1provided by HGNC Official Full Name signaling threshold regulating transmembrane adaptor 1provided by HGNC Primary source HGNC:HGNC:17710 See related Ensembl:ENSG00000137078 MIM:604964; AllianceGenome:HGNC:17710 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 SIT; SIT-R Summary Enables kinase binding activity. Involved in regulation of T cell activation. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 22.9), appendix (RPKM 10.2) and 8 other tissues See more Orthologs mouse all
SIVA1, Official Symbol SIVA1provided by HGNC Official Full Name SIVA1 apoptosis inducing factorprovided by HGNC Primary source HGNC:HGNC:17712 See related Ensembl:ENSG00000184990 MIM:605567; AllianceGenome:HGNC:17712 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 SIVA; CD27BP; Siva-1; Siva-2 Summary This gene encodes an E3 ubiquitin ligase that regulates cell cycle progression, cell proliferation and apoptosis. The N-terminus of this protein binds to the cytoplasmic tail of the CD27 antigen, a member of the tumor necrosis factor receptor (TNFR) superfamily. In response to UV radiation-induced DNA damage, this protein has been shown to mediate the ubiquitination of proliferating cell nuclear antigen (PCNA), an important step in translesion DNA synthesis. [provided by RefSeq, Sep 2018] Expression Ubiquitous expression in bone marrow (RPKM 15.7), fat (RPKM 10.9) and 25 other tissues See more Orthologs mouse all
SIX1, Official Symbol SIX1provided by HGNC Official Full Name SIX homeobox 1provided by HGNC Primary source HGNC:HGNC:10887 See related Ensembl:ENSG00000126778 MIM:601205; AllianceGenome:HGNC:10887 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 BOS3; TIP39; DFNA23 Summary The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in limb development. Defects in this gene are a cause of autosomal dominant deafness type 23 (DFNA23) and branchiootic syndrome type 3 (BOS3). [provided by RefSeq, Jul 2008] Expression Biased expression in salivary gland (RPKM 12.9), prostate (RPKM 9.2) and 6 other tissues See more Orthologs mouse all
SIX2, Official Symbol SIX2provided by HGNC Official Full Name SIX homeobox 2provided by HGNC Primary source HGNC:HGNC:10888 See related Ensembl:ENSG00000170577 MIM:604994; AllianceGenome:HGNC:10888 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 Summary This gene is a member of the vertebrate gene family which encode proteins homologous to the Drosophila 'sine oculis' homeobox protein. The encoded protein is a transcription factor which, like other members of this gene family, may be involved in limb or eye development. [provided by RefSeq, Dec 2008] Expression Biased expression in salivary gland (RPKM 4.1), prostate (RPKM 2.7) and 4 other tissues See more Orthologs mouse all
SIX3, Official Symbol SIX3provided by HGNC Official Full Name SIX homeobox 3provided by HGNC Primary source HGNC:HGNC:10889 See related Ensembl:ENSG00000138083 MIM:603714; AllianceGenome:HGNC:10889 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 HPE2 Summary This gene encodes a member of the sine oculis homeobox transcription factor family. The encoded protein plays a role in eye development. Mutations in this gene have been associated with holoprosencephaly type 2. [provided by RefSeq, Oct 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all
SIX3-AS1, Official Symbol SIX3-AS1provided by HGNC Official Full Name SIX3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40532 See related Ensembl:ENSG00000236502 AllianceGenome:HGNC:40532 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 SIX3OS Expression Low expression observed in reference dataset See more
SIX4, Official Symbol SIX4provided by HGNC Official Full Name SIX homeobox 4provided by HGNC Primary source HGNC:HGNC:10890 See related Ensembl:ENSG00000100625 MIM:606342; AllianceGenome:HGNC:10890 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 AREC3 Summary This gene encodes a member of the homeobox family, subfamily SIX. The drosophila homolog is a nuclear homeoprotein required for eye development. Studies in mouse show that this gene product functions as a transcription factor, and may have a role in the differentiation or maturation of neuronal cells. [provided by RefSeq, May 2010] Expression Broad expression in prostate (RPKM 2.0), salivary gland (RPKM 1.8) and 16 other tissues See more Orthologs mouse all
SIX5, Official Symbol SIX5provided by HGNC Official Full Name SIX homeobox 5provided by HGNC Primary source HGNC:HGNC:10891 See related Ensembl:ENSG00000177045 MIM:600963; AllianceGenome:HGNC:10891 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 BOR2; DMAHP Summary The protein encoded by this gene is a homeodomain-containing transcription factor that appears to function in the regulation of organogenesis. This gene is located downstream of the dystrophia myotonica-protein kinase gene. Mutations in this gene are a cause of branchiootorenal syndrome type 2. [provided by RefSeq, Jul 2009] Expression Ubiquitous expression in ovary (RPKM 8.6), prostate (RPKM 7.4) and 24 other tissues See more Orthologs mouse all
SIX6, Official Symbol SIX6provided by HGNC Official Full Name SIX homeobox 6provided by HGNC Primary source HGNC:HGNC:10892 See related Ensembl:ENSG00000184302 MIM:606326; AllianceGenome:HGNC:10892 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 Six9; ODRMD; OPTX2; MCOPCT2 Summary The protein encoded by this gene is a homeobox protein that is similar to the Drosophila 'sine oculis' gene product. This gene is found in a cluster of related genes on chromosome 14 and is thought to be involved in eye development. Defects in this gene are a cause of isolated microphthalmia with cataract type 2 (MCOPCT2). [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
SKA1, Official Symbol SKA1provided by HGNC Official Full Name spindle and kinetochore associated complex subunit 1provided by HGNC Primary source HGNC:HGNC:28109 See related Ensembl:ENSG00000154839 MIM:616673; AllianceGenome:HGNC:28109 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 C18orf24 Summary Enables microtubule binding activity. Involved in several processes, including chromosome segregation; mitotic cell cycle; and regulation of microtubule polymerization or depolymerization. Located in spindle microtubule. Part of outer kinetochore. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 4.0), testis (RPKM 3.1) and 12 other tissues See more Orthologs mouse all
SKA2, Official Symbol SKA2provided by HGNC Official Full Name spindle and kinetochore associated complex subunit 2provided by HGNC Primary source HGNC:HGNC:28006 See related Ensembl:ENSG00000182628 MIM:616674; AllianceGenome:HGNC:28006 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 FAM33A Summary Enables microtubule binding activity. Involved in several processes, including chromosome segregation; mitotic cell cycle; and regulation of microtubule polymerization or depolymerization. Located in spindle microtubule. Part of outer kinetochore. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 9.5), thyroid (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
SKA3, Official Symbol SKA3provided by HGNC Official Full Name spindle and kinetochore associated complex subunit 3provided by HGNC Primary source HGNC:HGNC:20262 See related Ensembl:ENSG00000165480 MIM:619247; AllianceGenome:HGNC:20262 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 RAMA1; C13orf3 Summary This gene encodes a component of the spindle and kinetochore-associated protein complex that regulates microtubule attachment to the kinetochores during mitosis. The encoded protein localizes to the outer kinetechore and may be required for normal chromosome segregation and cell division. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009] Expression Biased expression in testis (RPKM 4.8), bone marrow (RPKM 3.0) and 13 other tissues See more Orthologs mouse all
SKAP1, Official Symbol SKAP1provided by HGNC Official Full Name src kinase associated phosphoprotein 1provided by HGNC Primary source HGNC:HGNC:15605 See related Ensembl:ENSG00000141293 MIM:604969; AllianceGenome:HGNC:15605 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 SCAP1; SKAP55; HEL-S-81p Summary This gene encodes a T cell adaptor protein, a class of intracellular molecules with modular domains capable of recruiting additional proteins but that exhibit no intrinsic enzymatic activity. The encoded protein contains a unique N-terminal region followed by a PH domain and C-terminal SH3 domain. Along with the adhesion and degranulation-promoting adaptor protein, the encoded protein plays a critical role in inside-out signaling by coupling T-cell antigen receptor stimulation to the activation of integrins. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 9.4), spleen (RPKM 4.5) and 17 other tissues See more Orthologs mouse all
SKAP1-AS1, Official Symbol SKAP1-AS1provided by HGNC Official Full Name SKAP1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53166 See related AllianceGenome:HGNC:53166 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Annotation information not in current annotation release
SKAP2, Official Symbol SKAP2provided by HGNC Official Full Name src kinase associated phosphoprotein 2provided by HGNC Primary source HGNC:HGNC:15687 See related Ensembl:ENSG00000005020 MIM:605215; AllianceGenome:HGNC:15687 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 PRAP; RA70; SAPS; SCAP2; SKAP55R; SKAP-HOM Summary The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015] Expression Ubiquitous expression in spleen (RPKM 10.6), appendix (RPKM 9.8) and 24 other tissues See more Orthologs mouse all
SKI, Official Symbol SKIprovided by HGNC Official Full Name SKI proto-oncogeneprovided by HGNC Primary source HGNC:HGNC:10896 See related Ensembl:ENSG00000157933 MIM:164780; AllianceGenome:HGNC:10896 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 SGS; SKV Summary This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009] Expression Ubiquitous expression in lung (RPKM 8.9), fat (RPKM 8.3) and 25 other tissues See more Orthologs mouse all
SKIDA1, Official Symbol SKIDA1provided by HGNC Official Full Name SKI/DACH domain containing 1provided by HGNC Primary source HGNC:HGNC:32697 See related Ensembl:ENSG00000180592 AllianceGenome:HGNC:32697 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 DLN-1; C10orf140 Expression Low expression observed in reference dataset See more Orthologs mouse all
SKIL, Official Symbol SKILprovided by HGNC Official Full Name SKI like proto-oncogeneprovided by HGNC Primary source HGNC:HGNC:10897 See related Ensembl:ENSG00000136603 MIM:165340; AllianceGenome:HGNC:10897 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 SNO; SnoA; SnoI; SnoN Summary The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in gall bladder (RPKM 14.0), appendix (RPKM 11.3) and 25 other tissues See more Orthologs mouse all
SKINT1L, Official Symbol SKINT1Lprovided by HGNC Official Full Name Skint1 like (pseudogene)provided by HGNC Primary source HGNC:HGNC:33993 See related MIM:616392; AllianceGenome:HGNC:33993 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BTN12; SKINT1; SKINTL; SKINTP Expression Low expression observed in reference dataset See more
SKOR1, Official Symbol SKOR1provided by HGNC Official Full Name SKI family transcriptional corepressor 1provided by HGNC Primary source HGNC:HGNC:21326 See related Ensembl:ENSG00000188779 MIM:611273; AllianceGenome:HGNC:21326 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 CORL1; LBXCOR1; FUSSEL15 Summary Enables SMAD binding activity and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of BMP signaling pathway. Located in dendrite and neuronal cell body. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SKOR2, Official Symbol SKOR2provided by HGNC Official Full Name SKI family transcriptional corepressor 2provided by HGNC Primary source HGNC:HGNC:32695 See related Ensembl:ENSG00000215474 MIM:617138; AllianceGenome:HGNC:32695 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 CORL2; CH18515; FUSSEL18 Summary Enables SMAD binding activity and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SKP1, Official Symbol SKP1provided by HGNC Official Full Name S-phase kinase associated protein 1provided by HGNC Primary source HGNC:HGNC:10899 See related Ensembl:ENSG00000113558 MIM:601434; AllianceGenome:HGNC:10899 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 OCP2; p19A; EMC19; SKP1A; OCP-II; TCEB1L Summary This gene encodes a component of SCF complexes, which are composed of this protein, cullin 1, a ring-box protein, and one member of the F-box family of proteins. This protein binds directly to the F-box motif found in F-box proteins. SCF complexes are involved in the regulated ubiquitination of specific protein substrates, which targets them for degradation by the proteosome. Specific F-box proteins recognize different target protein(s), and many specific SCF substrates have been identified including regulators of cell cycle progression and development. Studies have also characterized the protein as an RNA polymerase II elongation factor. Alternative splicing of this gene results in two transcript variants. A related pseudogene has been identified on chromosome 7. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 102.0), thyroid (RPKM 75.8) and 25 other tissues See more Orthologs mouse all
SKP1P2, Official Symbol SKP1P2provided by HGNC Official Full Name S-phase kinase associated protein 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:10900 See related MIM:601435; AllianceGenome:HGNC:10900 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as p19B; SKP1B
SKP1P3, Official Symbol SKP1P3provided by HGNC Official Full Name S-phase kinase associated protein 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:50370 See related AllianceGenome:HGNC:50370 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SKP2, Official Symbol SKP2provided by HGNC Official Full Name S-phase kinase associated protein 2provided by HGNC Primary source HGNC:HGNC:10901 See related Ensembl:ENSG00000145604 MIM:601436; AllianceGenome:HGNC:10901 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 p45; FBL1; FLB1; FBXL1 Summary This gene encodes a member of the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbls class; in addition to an F-box, this protein contains 10 tandem leucine-rich repeats. This protein is an essential element of the cyclin A-CDK2 S-phase kinase. It specifically recognizes phosphorylated cyclin-dependent kinase inhibitor 1B (CDKN1B, also referred to as p27 or KIP1) predominantly in S phase and interacts with S-phase kinase-associated protein 1 (SKP1 or p19). In addition, this gene is established as a protooncogene causally involved in the pathogenesis of lymphomas. Alternative splicing of this gene generates three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2011] Expression Broad expression in placenta (RPKM 19.8), lymph node (RPKM 3.9) and 22 other tissues See more Orthologs mouse all
SKP2P1, Official Symbol SKP2P1provided by HGNC Official Full Name SKP2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:55027 See related AllianceGenome:HGNC:55027 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SLA, Official Symbol SLAprovided by HGNC Official Full Name Src like adaptorprovided by HGNC Primary source HGNC:HGNC:10902 See related Ensembl:ENSG00000155926 MIM:601099; AllianceGenome:HGNC:10902 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 SLA1; SLAP Summary Predicted to enable signaling receptor binding activity. Predicted to be involved in cell differentiation; innate immune response; and transmembrane receptor protein tyrosine kinase signaling pathway. Predicted to be located in cytosol. Predicted to be active in dendritic spine and focal adhesion. Predicted to be extrinsic component of cytoplasmic side of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in appendix (RPKM 40.5), lymph node (RPKM 30.4) and 15 other tissues See more Orthologs mouse all
SLA2, Official Symbol SLA2provided by HGNC Official Full Name Src like adaptor 2provided by HGNC Primary source HGNC:HGNC:17329 See related Ensembl:ENSG00000101082 MIM:606577; AllianceGenome:HGNC:17329 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 MARS; SLAP2; SLAP-2; C20orf156 Summary This gene encodes a member of the SLAP family of adapter proteins. The encoded protein may play an important receptor-proximal role in downregulating T and B cell-mediated responses and inhibits antigen receptor-induced calcium mobilization. This protein interacts with Cas-Br-M (murine) ecotropic retroviral transforming sequence c. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in lymph node (RPKM 4.0), bone marrow (RPKM 3.6) and 17 other tissues See more Orthologs mouse all
SLAIN1, Official Symbol SLAIN1provided by HGNC Official Full Name SLAIN motif family member 1provided by HGNC Primary source HGNC:HGNC:26387 See related Ensembl:ENSG00000139737 MIM:610491; AllianceGenome:HGNC:26387 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 C13orf32 Summary Predicted to be located in cytoplasm and cytoskeleton. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 39.3), testis (RPKM 10.8) and 7 other tissues See more Orthologs mouse all
SLAIN2, Official Symbol SLAIN2provided by HGNC Official Full Name SLAIN motif family member 2provided by HGNC Primary source HGNC:HGNC:29282 See related Ensembl:ENSG00000109171 MIM:610492; AllianceGenome:HGNC:29282 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 KIAA1458 Summary Involved in cytoplasmic microtubule organization; microtubule nucleation; and positive regulation of microtubule polymerization. Located in centrosome and cytosol. Colocalizes with microtubule plus-end. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 22.9), esophagus (RPKM 14.0) and 25 other tissues See more Orthologs mouse all
SLAMF1, Official Symbol SLAMF1provided by HGNC Official Full Name signaling lymphocytic activation molecule family member 1provided by HGNC Primary source HGNC:HGNC:10903 See related Ensembl:ENSG00000117090 MIM:603492; AllianceGenome:HGNC:10903 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 SLAM; CD150; CDw150 Summary Enables SH2 domain binding activity and identical protein binding activity. Involved in several processes, including negative regulation of CD40 signaling pathway; negative regulation of cytokine production; and positive regulation of MAPK cascade. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 8.7), appendix (RPKM 6.0) and 11 other tissues See more Orthologs mouse all
SLAMF6, Official Symbol SLAMF6provided by HGNC Official Full Name SLAM family member 6provided by HGNC Primary source HGNC:HGNC:21392 See related Ensembl:ENSG00000162739 MIM:606446; AllianceGenome:HGNC:21392 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 KALI; NTBA; CD352; KALIb; Ly108; NTB-A; SF2000 Summary The protein encoded by this gene is a type I transmembrane protein, belonging to the CD2 subfamily of the immunoglobulin superfamily. This encoded protein is expressed on Natural killer (NK), T, and B lymphocytes. It undergoes tyrosine phosphorylation and associates with the Src homology 2 domain-containing protein (SH2D1A) as well as with SH2 domain-containing phosphatases (SHPs). It functions as a coreceptor in the process of NK cell activation. It can also mediate inhibitory signals in NK cells from X-linked lymphoproliferative patients. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010] Expression Biased expression in lymph node (RPKM 29.2), spleen (RPKM 15.5) and 7 other tissues See more Orthologs mouse all
SLAMF6P1, Official Symbol SLAMF6P1provided by HGNC Official Full Name SLAM family member 6 pseudogene 1provided by HGNC Primary source HGNC:HGNC:32012 See related AllianceGenome:HGNC:32012 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SLAMF7, Official Symbol SLAMF7provided by HGNC Official Full Name SLAM family member 7provided by HGNC Primary source HGNC:HGNC:21394 See related Ensembl:ENSG00000026751 MIM:606625; AllianceGenome:HGNC:21394 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 19A; CS1; CD319; CRACC Summary Enables identical protein binding activity. Predicted to be involved in adaptive immune response. Predicted to act upstream of or within regulation of natural killer cell activation. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lymph node (RPKM 22.3), appendix (RPKM 19.3) and 13 other tissues See more Orthologs mouse all
SLAMF8, Official Symbol SLAMF8provided by HGNC Official Full Name SLAM family member 8provided by HGNC Primary source HGNC:HGNC:21391 See related Ensembl:ENSG00000158714 MIM:606620; AllianceGenome:HGNC:21391 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 BLAME; CD353; SBBI42 Summary This gene encodes a member of the CD2 family of cell surface proteins involved in lymphocyte activation. These proteins are characterized by Ig domains. This protein is expressed in lymphoid tissues, and studies of a similar protein in mouse suggest that it may function during B cell lineage commitment. The gene is found in a region of chromosome 1 containing many CD2 genes. [provided by RefSeq, Jul 2008] Expression Broad expression in appendix (RPKM 13.5), lymph node (RPKM 12.8) and 22 other tissues See more Orthologs mouse all
SLAMF9, Official Symbol SLAMF9provided by HGNC Official Full Name SLAM family member 9provided by HGNC Primary source HGNC:HGNC:18430 See related Ensembl:ENSG00000162723 MIM:608589; AllianceGenome:HGNC:18430 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 CD2F10; CD84H1; SF2001; CD2F-10; CD84-H1 Summary This gene encodes a member of the signaling lymphocytic activation molecule family. The encoded protein is a cell surface molecule that consists of two extracellular immunoglobulin domains, a transmembrane domain and a short cytoplasmic tail that lacks the signal transduction motifs found in other family members. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2009] Expression Biased expression in stomach (RPKM 3.8), small intestine (RPKM 2.6) and 7 other tissues See more Orthologs mouse all
SLBP, Official Symbol SLBPprovided by HGNC Official Full Name stem-loop histone mRNA binding proteinprovided by HGNC Primary source HGNC:HGNC:10904 See related Ensembl:ENSG00000163950 MIM:602422; AllianceGenome:HGNC:10904 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 HBP Summary This gene encodes a protein that binds to the stem-loop structure in replication-dependent histone mRNAs. Histone mRNAs do not contain introns or polyadenylation signals, and are processed by endonucleolytic cleavage. The stem-loop structure is essential for efficient processing but this structure also controls the transport, translation and stability of histone mRNAs. Expression of the protein is regulated during the cell cycle, increasing more than 10-fold during the latter part of G1. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 30.6), bone marrow (RPKM 27.2) and 25 other tissues See more Orthologs mouse all
SLC10A1, Official Symbol SLC10A1provided by HGNC Official Full Name solute carrier family 10 member 1provided by HGNC Primary source HGNC:HGNC:10905 See related Ensembl:ENSG00000100652 MIM:182396; AllianceGenome:HGNC:10905 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 NTCP; FHCA2 Summary The protein encoded by this gene belongs to the sodium/bile acid cotransporter family, which are integral membrane glycoproteins that participate in the enterohepatic circulation of bile acids. Two homologous transporters are involved in the reabsorption of bile acids; the ileal sodium/bile acid cotransporter with an apical cell localization that absorbs bile acids from the intestinal lumen, bile duct and kidney, and the liver-specific sodium/bile acid cotransporter, represented by this protein, that is found in the basolateral membranes of hepatocytes. Bile acids are the catabolic product of cholesterol metabolism, hence this protein is important for cholesterol homeostasis. [provided by RefSeq, Oct 2011] Expression Restricted expression toward liver (RPKM 124.7) See more Orthologs mouse all
SLC10A2, Official Symbol SLC10A2provided by HGNC Official Full Name solute carrier family 10 member 2provided by HGNC Primary source HGNC:HGNC:10906 See related Ensembl:ENSG00000125255 MIM:601295; AllianceGenome:HGNC:10906 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 ASBT; IBAT; ISBT; PBAM; NTCP2; PBAM1 Summary This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG). [provided by RefSeq, Mar 2010] Expression Biased expression in small intestine (RPKM 25.8), duodenum (RPKM 11.2) and 1 other tissue See more Orthologs mouse all
SLC10A3, Official Symbol SLC10A3provided by HGNC Official Full Name solute carrier family 10 member 3provided by HGNC Primary source HGNC:HGNC:22979 See related Ensembl:ENSG00000126903 MIM:312090; AllianceGenome:HGNC:22979 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 P3; DXS253E Summary This gene maps to a GC-rich region of the X chromosome and was identified by its proximity to a CpG island. It is thought to be a housekeeping gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Dec 2008] Expression Ubiquitous expression in placenta (RPKM 8.9), ovary (RPKM 8.2) and 25 other tissues See more Orthologs mouse all
SLC10A4, Official Symbol SLC10A4provided by HGNC Official Full Name solute carrier family 10 member 4provided by HGNC Primary source HGNC:HGNC:22980 See related Ensembl:ENSG00000145248 MIM:618563; AllianceGenome:HGNC:22980 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 P4 Summary Predicted to enable bile acid:sodium symporter activity. Predicted to be involved in bile acid and bile salt transport and regulation of neurotransmitter loading into synaptic vesicle. Predicted to act upstream of or within adult behavior and response to xenobiotic stimulus. Predicted to be located in plasma membrane. Predicted to be integral component of membrane. Predicted to be active in cholinergic synapse; dopaminergic synapse; and serotonergic synapse. Predicted to be integral component of synaptic vesicle membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in adrenal (RPKM 2.6), brain (RPKM 1.4) and 8 other tissues See more Orthologs mouse all
SLC10A5, Official Symbol SLC10A5provided by HGNC Official Full Name solute carrier family 10 member 5provided by HGNC Primary source HGNC:HGNC:22981 See related Ensembl:ENSG00000253598 MIM:618582; AllianceGenome:HGNC:22981 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 P5 Summary Predicted to enable bile acid:sodium symporter activity. Predicted to be involved in bile acid and bile salt transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
SLC10A5P1, Official Symbol SLC10A5P1provided by HGNC Official Full Name SLC10A5 pseudogene 1provided by HGNC Primary source HGNC:HGNC:48930 See related Ensembl:ENSG00000205184 AllianceGenome:HGNC:48930 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SLC10A6, Official Symbol SLC10A6provided by HGNC Official Full Name solute carrier family 10 member 6provided by HGNC Primary source HGNC:HGNC:30603 See related Ensembl:ENSG00000145283 MIM:613366; AllianceGenome:HGNC:30603 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 SOAT Summary Predicted to enable bile acid:sodium symporter activity. Predicted to be involved in bile acid and bile salt transport. Predicted to be located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 6.2), esophagus (RPKM 5.0) and 7 other tissues See more Orthologs mouse all
SLC10A7, Official Symbol SLC10A7provided by HGNC Official Full Name solute carrier family 10 member 7provided by HGNC Primary source HGNC:HGNC:23088 See related Ensembl:ENSG00000120519 MIM:611459; AllianceGenome:HGNC:23088 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 P7; SSASKS; C4orf13 Summary Enables bile acid transmembrane transporter activity. Involved in several processes, including cellular calcium ion homeostasis; glycoprotein transport; and heparin biosynthetic process. Located in Golgi apparatus and endoplasmic reticulum. Is intrinsic component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 1.0), stomach (RPKM 1.0) and 25 other tissues See more Orthologs mouse all
SLC11A1, Official Symbol SLC11A1provided by HGNC Official Full Name solute carrier family 11 member 1provided by HGNC Primary source HGNC:HGNC:10907 See related Ensembl:ENSG00000018280 MIM:600266; AllianceGenome:HGNC:10907 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 LSH; NRAMP; NRAMP1 Summary This gene is a member of the solute carrier family 11 (proton-coupled divalent metal ion transporters) family and encodes a multi-pass membrane protein. The protein functions as a divalent transition metal (iron and manganese) transporter involved in iron metabolism and host resistance to certain pathogens. Mutations in this gene have been associated with susceptibility to infectious diseases such as tuberculosis and leprosy, and inflammatory diseases such as rheumatoid arthritis and Crohn disease. Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in lung (RPKM 10.4), appendix (RPKM 8.8) and 7 other tissues See more Orthologs mouse all
SLC11A2, Official Symbol SLC11A2provided by HGNC Official Full Name solute carrier family 11 member 2provided by HGNC Primary source HGNC:HGNC:10908 See related Ensembl:ENSG00000110911 MIM:600523; AllianceGenome:HGNC:10908 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 DCT1; DMT1; AHMIO1; NRAMP2 Summary This gene encodes a member of the solute carrier family 11 protein family. The product of this gene transports divalent metals and is involved in iron absorption. Mutations in this gene are associated with hypochromic microcytic anemia with iron overload. A related solute carrier family 11 protein gene is located on chromosome 2. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2010] Expression Ubiquitous expression in duodenum (RPKM 12.8), thyroid (RPKM 12.7) and 25 other tissues See more Orthologs mouse all
SLC12A1, Official Symbol SLC12A1provided by HGNC Official Full Name solute carrier family 12 member 1provided by HGNC Primary source HGNC:HGNC:10910 See related Ensembl:ENSG00000074803 MIM:600839; AllianceGenome:HGNC:10910 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 BSC; BSC1; CCC2; BSC-1; NKCC2 Summary This gene encodes a kidney-specific sodium-potassium-chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter-like syndromes result from defects in this gene. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional splice variants have been described but their biological validity in humans has not been experimentally proven.[provided by RefSeq, May 2010] Expression Restricted expression toward kidney (RPKM 306.7) See more Orthologs mouse all