psui3905/ncbi_genes_summary huggingface dataset:
SPINK6, Official Symbol SPINK6provided by HGNC Official Full Name serine peptidase inhibitor Kazal type 6provided by HGNC Primary source HGNC:HGNC:29486 See related Ensembl:ENSG00000178172 MIM:615868; AllianceGenome:HGNC:29486 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 BUSI2; UNQ844 Summary The protein encoded by this gene is a Kazal-type serine protease inhibitor that acts on kallikrein-related peptidases in the skin. Two transcript variants the same protein have been found for this gene. [provided by RefSeq, Aug 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
SPINK7, Official Symbol SPINK7provided by HGNC Official Full Name serine peptidase inhibitor Kazal type 7provided by HGNC Primary source HGNC:HGNC:24643 See related Ensembl:ENSG00000145879 MIM:617288; AllianceGenome:HGNC:24643 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 ECG2; ECRG2 Summary Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward esophagus (RPKM 102.7) See more Orthologs mouse all
SPINK8, Official Symbol SPINK8provided by HGNC Official Full Name serine peptidase inhibitor Kazal type 8 (putative)provided by HGNC Primary source HGNC:HGNC:33160 See related Ensembl:ENSG00000229453 AllianceGenome:HGNC:33160 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 Summary Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SPINK9, Official Symbol SPINK9provided by HGNC Official Full Name serine peptidase inhibitor Kazal type 9provided by HGNC Primary source HGNC:HGNC:32951 See related Ensembl:ENSG00000204909 MIM:613511; AllianceGenome:HGNC:32951 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 LEKTI2 Summary The protein encoded by this gene is a Kazal-type serine protease inhibitor that appears to specifically target kallikrein-related peptidase 5 (KLK5) in the palmo-plantar epidermis. KLK5 is an important initiator of skin desquamation, so the encoded protease inhibitor may regulate skin differentiation in the palms of hands and soles of feet. This cationic protein has also been shown to promote keratinocyte migration by activation of the epidermal growth factor receptor (EGFR). [provided by RefSeq, Dec 2015] Expression Low expression observed in reference dataset See more Orthologs all
SPINT1, Official Symbol SPINT1provided by HGNC Official Full Name serine peptidase inhibitor, Kunitz type 1provided by HGNC Primary source HGNC:HGNC:11246 See related Ensembl:ENSG00000166145 MIM:605123; AllianceGenome:HGNC:11246 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 HAI; HAI1; MANSC2 Summary The protein encoded by this gene is a member of the Kunitz family of serine protease inhibitors. The protein is a potent inhibitor specific for HGF activator and is thought to be involved in the regulation of the proteolytic activation of HGF in injured tissues. Alternative splicing results in multiple variants encoding different isoforms. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 87.0), duodenum (RPKM 69.0) and 15 other tissues See more Orthologs mouse all
SPINT1-AS1, Official Symbol SPINT1-AS1provided by HGNC Official Full Name SPINT1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53162 See related Ensembl:ENSG00000261183 AllianceGenome:HGNC:53162 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 9.8), kidney (RPKM 8.3) and 16 other tissues See more
SPINT2, Official Symbol SPINT2provided by HGNC Official Full Name serine peptidase inhibitor, Kunitz type 2provided by HGNC Primary source HGNC:HGNC:11247 See related Ensembl:ENSG00000167642 MIM:605124; AllianceGenome:HGNC:11247 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 PB; Kop; HAI2; DIAR3; HAI-2 Summary This gene encodes a transmembrane protein with two extracellular Kunitz domains that inhibits a variety of serine proteases. The protein inhibits HGF activator which prevents the formation of active hepatocyte growth factor. This gene is a putative tumor suppressor, and mutations in this gene result in congenital sodium diarrhea. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] Expression Broad expression in colon (RPKM 172.2), thyroid (RPKM 135.2) and 22 other tissues See more Orthologs mouse all
SPINT3, Official Symbol SPINT3provided by HGNC Official Full Name serine peptidase inhibitor, Kunitz type 3provided by HGNC Primary source HGNC:HGNC:11248 See related Ensembl:ENSG00000101446 MIM:613941; AllianceGenome:HGNC:11248 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 HKIB9 Summary Predicted to enable receptor antagonist activity and transforming growth factor beta binding activity. Predicted to be involved in negative regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
SPINT4, Official Symbol SPINT4provided by HGNC Official Full Name serine peptidase inhibitor, Kunitz type 4provided by HGNC Primary source HGNC:HGNC:16130 See related Ensembl:ENSG00000149651 MIM:619430; AllianceGenome:HGNC:16130 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 SPINT3; C20orf137; dJ601O1.1 Summary Predicted to enable serine-type endopeptidase inhibitor activity. Predicted to be involved in negative regulation of endopeptidase activity. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs all
SPINT5P, Official Symbol SPINT5Pprovided by HGNC Official Full Name serine peptidase inhibitor, Kunitz type 5, pseudogeneprovided by HGNC Primary source HGNC:HGNC:16161 See related Ensembl:ENSG00000168630 AllianceGenome:HGNC:16161 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as C20orf168; dJ447F3.6
SPIRE1, Official Symbol SPIRE1provided by HGNC Official Full Name spire type actin nucleation factor 1provided by HGNC Primary source HGNC:HGNC:30622 See related Ensembl:ENSG00000134278 MIM:609216; AllianceGenome:HGNC:30622 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 Spir-1 Summary Spire proteins, such as SPIRE1, are highly conserved between species. They belong to the family of Wiskott-Aldrich homology region-2 (WH2) proteins, which are involved in actin organization (Kerkhoff et al., 2001 [PubMed 11747823]).[supplied by OMIM, Mar 2008] Expression Broad expression in brain (RPKM 20.7), testis (RPKM 14.2) and 22 other tissues See more Orthologs mouse all
SPIRE2, Official Symbol SPIRE2provided by HGNC Official Full Name spire type actin nucleation factor 2provided by HGNC Primary source HGNC:HGNC:30623 See related Ensembl:ENSG00000204991 MIM:609217; AllianceGenome:HGNC:30623 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 Spir-2 Summary Predicted to enable actin binding activity. Involved in establishment of meiotic spindle localization; formin-nucleated actin cable assembly; and positive regulation of double-strand break repair. Predicted to be located in cytoskeleton; cytosol; and plasma membrane. Predicted to be active in cell cortex and cytoplasmic vesicle membrane. Predicted to colocalize with cleavage furrow. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in stomach (RPKM 4.5), colon (RPKM 4.1) and 20 other tissues See more Orthologs mouse all
SPN, Official Symbol SPNprovided by HGNC Official Full Name sialophorinprovided by HGNC Primary source HGNC:HGNC:11249 See related Ensembl:ENSG00000197471 MIM:182160; AllianceGenome:HGNC:11249 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 LSN; CD43; GALGP; GPL115; LEU-22 Summary This gene encodes a highly sialylated glycoprotein that functions in antigen-specific activation of T cells, and is found on the surface of thymocytes, T lymphocytes, monocytes, granulocytes, and some B lymphocytes. It contains a mucin-like extracellular domain, a transmembrane region and a carboxy-terminal intracellular region. The extracellular domain has a high proportion of serine and threonine residues, allowing extensive O-glycosylation, and has one potential N-glycosylation site, while the carboxy-terminal region has potential phosphorylation sites that may mediate transduction of activation signals. Different glycoforms of this protein have been described. In stimulated immune cells, proteolytic cleavage of the extracellular domain occurs in some cell types, releasing a soluble extracellular fragment. Defects in expression of this gene are associated with Wiskott-Aldrich syndrome. [provided by RefSeq, Sep 2017] Expression Biased expression in bone marrow (RPKM 10.2), lymph node (RPKM 6.8) and 13 other tissues See more Orthologs mouse all
SPNS1, Official Symbol SPNS1provided by HGNC Official Full Name SPNS lysolipid transporter 1, lysophospholipidprovided by HGNC Primary source HGNC:HGNC:30621 See related Ensembl:ENSG00000169682 MIM:612583; AllianceGenome:HGNC:30621 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 LAT; nrs; SPIN1; SPINL; HSpin1; PP2030; SLC62A1; SLC63A1 Summary Predicted to enable transmembrane transporter activity. Predicted to be involved in lipid transport and transmembrane transport. Located in lysosomal membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in lung (RPKM 11.3), placenta (RPKM 11.2) and 25 other tissues See more Orthologs mouse all
SPNS2, Official Symbol SPNS2provided by HGNC Official Full Name SPNS lysolipid transporter 2, sphingosine-1-phosphateprovided by HGNC Primary source HGNC:HGNC:26992 See related Ensembl:ENSG00000183018 MIM:612584; AllianceGenome:HGNC:26992 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 DFNB115; SLC62A2; SLC63A2 Summary The protein encoded by this gene is a transporter of sphingosine 1-phosphate, a secreted lipid that is important in cardiovascular, immunological, and neural development. Defects in this gene are a cause of early onset progressive hearing loss. [provided by RefSeq, Jul 2016] Expression Ubiquitous expression in esophagus (RPKM 28.9), kidney (RPKM 26.3) and 23 other tissues See more Orthologs mouse all
SPNS3, Official Symbol SPNS3provided by HGNC Official Full Name SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative)provided by HGNC Primary source HGNC:HGNC:28433 See related Ensembl:ENSG00000182557 MIM:611701; AllianceGenome:HGNC:28433 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 SLC62A3; SLC63A3 Summary Predicted to enable transmembrane transporter activity. Predicted to be involved in lipid transport and transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in bone marrow (RPKM 8.7), spleen (RPKM 1.4) and 4 other tissues See more Orthologs mouse all
SPO11, Official Symbol SPO11provided by HGNC Official Full Name SPO11 initiator of meiotic double strand breaksprovided by HGNC Primary source HGNC:HGNC:11250 See related Ensembl:ENSG00000054796 MIM:605114; AllianceGenome:HGNC:11250 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 CT35; TOPVIA; SPATA43; TOPOVIA Summary Meiotic recombination and chromosome segregation require the formation of double-strand breaks (DSBs) in paired chromosome homologs. During meiosis in yeast, a meiotic recombination protein is covalently-linked to the 5' end of DSBs and is essential for the formation of DSBs. The protein encoded by this gene is similar in sequence and conserved features to the yeast meiotic recombination protein. The encoded protein belongs to the TOP6A protein family. Several transcript variants encoding different isoforms have been found for this gene, but the full-length nature of only two of them have been described. [provided by RefSeq, Jul 2008] Expression Restricted expression toward testis (RPKM 4.0) See more Orthologs mouse all
SPOCD1, Official Symbol SPOCD1provided by HGNC Official Full Name SPOC domain containing 1provided by HGNC Primary source HGNC:HGNC:26338 See related Ensembl:ENSG00000134668 MIM:619038; AllianceGenome:HGNC:26338 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 PPP1R146 Summary This gene encodes a protein that belongs to the TFIIS family of transcription factors. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013] Expression Biased expression in testis (RPKM 4.6), urinary bladder (RPKM 3.3) and 7 other tissues See more Orthologs mouse all
SPOCK1, Official Symbol SPOCK1provided by HGNC Official Full Name SPARC (osteonectin), cwcv and kazal like domains proteoglycan 1provided by HGNC Primary source HGNC:HGNC:11251 See related Ensembl:ENSG00000152377 MIM:602264; AllianceGenome:HGNC:11251 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 TIC1; SPOCK; TESTICAN Summary This gene encodes the protein core of a seminal plasma proteoglycan containing chondroitin- and heparan-sulfate chains. The protein's function is unknown, although similarity to thyropin-type cysteine protease-inhibitors suggests its function may be related to protease inhibition. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 74.1), prostate (RPKM 36.6) and 10 other tissues See more Orthologs mouse all
SPOCK2, Official Symbol SPOCK2provided by HGNC Official Full Name SPARC (osteonectin), cwcv and kazal like domains proteoglycan 2provided by HGNC Primary source HGNC:HGNC:13564 See related Ensembl:ENSG00000107742 MIM:607988; AllianceGenome:HGNC:13564 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 testican-2 Summary This gene encodes a protein which binds with glycosaminoglycans to form part of the extracellular matrix. The protein contains thyroglobulin type-1, follistatin-like, and calcium-binding domains, and has glycosaminoglycan attachment sites in the acidic C-terminal region. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011] Expression Biased expression in lung (RPKM 58.9), brain (RPKM 55.4) and 13 other tissues See more Orthologs mouse all
SPOCK3, Official Symbol SPOCK3provided by HGNC Official Full Name SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3provided by HGNC Primary source HGNC:HGNC:13565 See related Ensembl:ENSG00000196104 MIM:607989; AllianceGenome:HGNC:13565 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 TES-3; TICN3; HSAJ1454 Summary This gene encodes a member of a novel family of calcium-binding proteoglycan proteins that contain thyroglobulin type-1 and Kazal-like domains. The encoded protein and may play a role in adult T-cell leukemia by inhibiting the activity of membrane-type matrix metalloproteinases. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011] Expression Biased expression in brain (RPKM 28.5), prostate (RPKM 28.2) and 2 other tissues See more Orthologs mouse all
SPON1, Official Symbol SPON1provided by HGNC Official Full Name spondin 1provided by HGNC Primary source HGNC:HGNC:11252 See related Ensembl:ENSG00000262655 MIM:604989; AllianceGenome:HGNC:11252 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 f-spondin; VSGP/F-spondin Summary Predicted to be an extracellular matrix structural constituent. Predicted to be involved in cell adhesion. Predicted to act upstream of or within positive regulation of protein binding activity; positive regulation of protein processing; and regulation of amyloid precursor protein catabolic process. Located in extracellular space. Colocalizes with collagen-containing extracellular matrix. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in gall bladder (RPKM 73.6), urinary bladder (RPKM 33.9) and 16 other tissues See more Orthologs mouse all
SPON1-AS1, Official Symbol SPON1-AS1provided by HGNC Official Full Name SPON1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53117 See related AllianceGenome:HGNC:53117 Gene type ncRNA Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as L19.1; RP11-21 Annotation information not in current annotation release
SPON2, Official Symbol SPON2provided by HGNC Official Full Name spondin 2provided by HGNC Primary source HGNC:HGNC:11253 See related Ensembl:ENSG00000159674 MIM:605918; AllianceGenome:HGNC:11253 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 DIL1; DIL-1; MINDIN; M-SPONDIN Summary Predicted to enable antigen binding activity; lipopolysaccharide binding activity; and metal ion binding activity. Predicted to be involved in cell adhesion. Predicted to act upstream of or within several processes, including defense response to other organism; opsonization; and positive regulation of cytokine production. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in prostate (RPKM 48.4), endometrium (RPKM 37.2) and 18 other tissues See more Orthologs all
SPOP, Official Symbol SPOPprovided by HGNC Official Full Name speckle type BTB/POZ proteinprovided by HGNC Primary source HGNC:HGNC:11254 See related Ensembl:ENSG00000121067 MIM:602650; AllianceGenome:HGNC:11254 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 TEF2; BTBD32; NSDVS1; NSDVS2; NEDMACE; NEDMIDF Summary This gene encodes a protein that may modulate the transcriptional repression activities of death-associated protein 6 (DAXX), which interacts with histone deacetylase, core histones, and other histone-associated proteins. In mouse, the encoded protein binds to the putative leucine zipper domain of macroH2A1.2, a variant H2A histone that is enriched on inactivated X chromosomes. The BTB/POZ domain of this protein has been shown in other proteins to mediate transcriptional repression and to interact with components of histone deacetylase co-repressor complexes. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in prostate (RPKM 17.8), esophagus (RPKM 16.2) and 25 other tissues See more Orthologs mouse all
SPOPL, Official Symbol SPOPLprovided by HGNC Official Full Name speckle type BTB/POZ protein likeprovided by HGNC Primary source HGNC:HGNC:27934 See related Ensembl:ENSG00000144228 AllianceGenome:HGNC:27934 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 BTBD33 Summary Predicted to enable ubiquitin protein ligase binding activity. Involved in negative regulation of protein ubiquitination and proteasome-mediated ubiquitin-dependent protein catabolic process. Part of Cul3-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in appendix (RPKM 7.5), lymph node (RPKM 7.4) and 25 other tissues See more Orthologs mouse all
SPOUT1, Official Symbol SPOUT1provided by HGNC Official Full Name SPOUT domain containing methyltransferase 1provided by HGNC Primary source HGNC:HGNC:26933 See related Ensembl:ENSG00000198917 MIM:617614; AllianceGenome:HGNC:26933 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 CENP32; CENP-32; HSPC109; C9orf114 Summary Enables miRNA binding activity. Involved in maintenance of centrosome location and production of miRNAs involved in gene silencing by miRNA. Located in kinetochore; mitotic spindle; and spindle pole centrosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in prostate (RPKM 7.5), lymph node (RPKM 6.8) and 25 other tissues See more Orthologs mouse all
SPP1, Official Symbol SPP1provided by HGNC Official Full Name secreted phosphoprotein 1provided by HGNC Primary source HGNC:HGNC:11255 See related Ensembl:ENSG00000118785 MIM:166490; AllianceGenome:HGNC:11255 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 OPN; BNSP; BSPI; ETA-1 Summary The protein encoded by this gene is involved in the attachment of osteoclasts to the mineralized bone matrix. The encoded protein is secreted and binds hydroxyapatite with high affinity. The osteoclast vitronectin receptor is found in the cell membrane and may be involved in the binding to this protein. This protein is also a cytokine that upregulates expression of interferon-gamma and interleukin-12. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011] Expression Biased expression in placenta (RPKM 1043.5), gall bladder (RPKM 1025.4) and 3 other tissues See more Orthologs mouse all
SPP2, Official Symbol SPP2provided by HGNC Official Full Name secreted phosphoprotein 2provided by HGNC Primary source HGNC:HGNC:11256 See related Ensembl:ENSG00000072080 MIM:602637; AllianceGenome:HGNC:11256 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 SPP24; SPP-24 Summary This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily. [provided by RefSeq, Oct 2008] Expression Restricted expression toward liver (RPKM 29.9) See more Orthologs mouse all
SPPL2A, Official Symbol SPPL2Aprovided by HGNC Official Full Name signal peptide peptidase like 2Aprovided by HGNC Primary source HGNC:HGNC:30227 See related Ensembl:ENSG00000138600 MIM:608238; AllianceGenome:HGNC:30227 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 IMP3; PSL2; IMD86 Summary This gene encodes a member of the GXGD family of aspartic proteases, which are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions, as well as a member of the signal peptide peptidase-like protease (SPPL) family. This protein is expressed in all major adult human tissues and localizes to late endosomal compartments and lysosomal membranes. A pseudogene of this gene also lies on chromosome 15. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in colon (RPKM 15.8), duodenum (RPKM 10.9) and 25 other tissues See more Orthologs mouse all
SPPL2B, Official Symbol SPPL2Bprovided by HGNC Official Full Name signal peptide peptidase like 2Bprovided by HGNC Primary source HGNC:HGNC:30627 See related Ensembl:ENSG00000005206 MIM:608239; AllianceGenome:HGNC:30627 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 IMP4; PSH4; PSL1; IMP-4 Summary This gene encodes a member of the GXGD family of aspartic proteases. The GXGD proteases are transmembrane proteins with two conserved catalytic motifs localized within the membrane-spanning regions. This enzyme localizes to endosomes, lysosomes, and the plasma membrane. It cleaves the transmembrane domain of tumor necrosis factor alpha to release the intracellular domain, which triggers cytokine expression in the innate and adaptive immunity pathways. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 13.2), duodenum (RPKM 10.9) and 25 other tissues See more Orthologs mouse all
SPPL2C, Official Symbol SPPL2Cprovided by HGNC Official Full Name signal peptide peptidase like 2Cprovided by HGNC Primary source HGNC:HGNC:28902 See related Ensembl:ENSG00000185294 MIM:608284; AllianceGenome:HGNC:28902 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 IMP5 Summary Enables protein homodimerization activity. Predicted to be involved in membrane protein proteolysis. Located in endoplasmic reticulum membrane. Is integral component of cytoplasmic side of endoplasmic reticulum membrane and integral component of lumenal side of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Orthologs mouse all
SPPL3, Official Symbol SPPL3provided by HGNC Official Full Name signal peptide peptidase like 3provided by HGNC Primary source HGNC:HGNC:30424 See related Ensembl:ENSG00000157837 MIM:608240; AllianceGenome:HGNC:30424 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 IMP2; PSH1; PSL4; PRO4332; MDHV1887 Summary Enables aspartic endopeptidase activity, intramembrane cleaving and protein homodimerization activity. Involved in several processes, including T cell receptor signaling pathway; positive regulation of calcineurin-NFAT signaling cascade; and positive regulation of protein dephosphorylation. Located in Golgi-associated vesicle membrane; plasma membrane; and rough endoplasmic reticulum. Is integral component of cytoplasmic side of endoplasmic reticulum membrane and integral component of lumenal side of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 21.6), testis (RPKM 17.3) and 25 other tissues See more Orthologs mouse all
SPR, Official Symbol SPRprovided by HGNC Official Full Name sepiapterin reductaseprovided by HGNC Primary source HGNC:HGNC:11257 See related Ensembl:ENSG00000116096 MIM:182125; AllianceGenome:HGNC:11257 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 SDR38C1 Summary This gene encodes an aldo-keto reductase that catalyzes the NADPH-dependent reduction of pteridine derivatives and is important in the biosynthesis of tetrahydrobiopterin (BH4). Mutations in this gene result in DOPA-responsive dystonia due to sepiaterin reductase deficiency. A pseudogene has been identified on chromosome 1. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 23.8), colon (RPKM 21.8) and 24 other tissues See more Orthologs mouse all
SPRED1, Official Symbol SPRED1provided by HGNC Official Full Name sprouty related EVH1 domain containing 1provided by HGNC Primary source HGNC:HGNC:20249 See related Ensembl:ENSG00000166068 MIM:609291; AllianceGenome:HGNC:20249 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 LGSS; NFLS; hSpred1; spred-1; PPP1R147 Summary The protein encoded by this gene is a member of the Sprouty family of proteins and is phosphorylated by tyrosine kinase in response to several growth factors. The encoded protein can act as a homodimer or as a heterodimer with SPRED2 to regulate activation of the MAP kinase cascade. Defects in this gene are a cause of neurofibromatosis type 1-like syndrome (NFLS). [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 21.9), brain (RPKM 13.6) and 23 other tissues See more Orthologs mouse all
SPRED2, Official Symbol SPRED2provided by HGNC Official Full Name sprouty related EVH1 domain containing 2provided by HGNC Primary source HGNC:HGNC:17722 See related Ensembl:ENSG00000198369 MIM:609292; AllianceGenome:HGNC:17722 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 NS14; Spred-2 Summary SPRED2 is a member of the Sprouty (see SPRY1; MIM 602465)/SPRED family of proteins that regulate growth factor-induced activation of the MAP kinase cascade (see MAPK1; MIM 176948) (Nonami et al., 2004 [PubMed 15465815]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in brain (RPKM 9.3), fat (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
SPRED3, Official Symbol SPRED3provided by HGNC Official Full Name sprouty related EVH1 domain containing 3provided by HGNC Primary source HGNC:HGNC:31041 See related Ensembl:ENSG00000188766 MIM:609293; AllianceGenome:HGNC:31041 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 Eve-3; spred-3 Summary This gene encodes a protein with a C-terminal Sprouty-like cysteine-rich domain (SRY) and an N-terminal Ena/Vasodilator-stimulated phosphoprotein (VASP) homology-1 (EVH-1) domain. The encoded protein is a member of a family of proteins that negatively regulates mitogen-activated protein (MAP) kinase signaling, particularly during organogenesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012] Expression Broad expression in brain (RPKM 1.8), duodenum (RPKM 0.4) and 14 other tissues See more Orthologs mouse all
SPRING1, Official Symbol SPRING1provided by HGNC Official Full Name SREBF pathway regulator in golgi 1provided by HGNC Primary source HGNC:HGNC:26128 See related Ensembl:ENSG00000111412 AllianceGenome:HGNC:26128 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 LUR1; POST1; SPRING; C12orf49 Summary Involved in positive regulation of SREBP signaling pathway. Located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 43.0), lung (RPKM 18.5) and 21 other tissues See more Orthologs mouse all
SPRN, Official Symbol SPRNprovided by HGNC Official Full Name shadow of prion proteinprovided by HGNC Primary source HGNC:HGNC:16871 See related Ensembl:ENSG00000203772 MIM:610447; AllianceGenome:HGNC:16871 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 SHO; SHADOO; bA108K14.1 Summary Predicted to enable nucleic acid binding activity. Predicted to be involved in protein import into nucleus. Predicted to be located in membrane. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 10.6), duodenum (RPKM 4.2) and 25 other tissues See more Orthologs mouse all
SPRR1A, Official Symbol SPRR1Aprovided by HGNC Official Full Name small proline rich protein 1Aprovided by HGNC Primary source HGNC:HGNC:11259 See related Ensembl:ENSG00000169474 MIM:182265; AllianceGenome:HGNC:11259 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 SPRK Summary A structural constituent of skin epidermis. Involved in keratinocyte differentiation and peptide cross-linking. Located in cornified envelope. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward esophagus (RPKM 829.4) See more Orthologs all
SPRR1B, Official Symbol SPRR1Bprovided by HGNC Official Full Name small proline rich protein 1Bprovided by HGNC Primary source HGNC:HGNC:11260 See related Ensembl:ENSG00000169469 MIM:182266; AllianceGenome:HGNC:11260 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 SPRR1; GADD33; SPR-IB; CORNIFIN Summary The protein encoded by this gene is an envelope protein of keratinocytes. The encoded protein is crosslinked to membrane proteins by transglutaminase, forming an insoluble layer under the plasma membrane. This protein is proline-rich and contains several tandem amino acid repeats. [provided by RefSeq, Nov 2015] Expression Restricted expression toward esophagus (RPKM 644.6) See more Orthologs mouse all
SPRR2A, Official Symbol SPRR2Aprovided by HGNC Official Full Name small proline rich protein 2Aprovided by HGNC Primary source HGNC:HGNC:11261 See related Ensembl:ENSG00000241794 MIM:182267; AllianceGenome:HGNC:11261 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 Summary Predicted to be involved in keratinization. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward esophagus (RPKM 1789.3) See more Orthologs all
SPRR2B, Official Symbol SPRR2Bprovided by HGNC Official Full Name small proline rich protein 2Bprovided by HGNC Primary source HGNC:HGNC:11262 See related Ensembl:ENSG00000196805 MIM:182268; AllianceGenome:HGNC:11262 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 Summary Predicted to be involved in keratinization. Predicted to act upstream of or within response to estradiol. Predicted to be located in cornified envelope and cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward esophagus (RPKM 318.4) See more Orthologs all
SPRR2D, Official Symbol SPRR2Dprovided by HGNC Official Full Name small proline rich protein 2Dprovided by HGNC Primary source HGNC:HGNC:11264 See related Ensembl:ENSG00000163216 MIM:617587; AllianceGenome:HGNC:11264 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 Summary Predicted to be involved in keratinization. Predicted to act upstream of or within female gonad development and response to estradiol. Located in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward esophagus (RPKM 746.1) See more Orthologs all
SPRR2E, Official Symbol SPRR2Eprovided by HGNC Official Full Name small proline rich protein 2Eprovided by HGNC Primary source HGNC:HGNC:11265 See related Ensembl:ENSG00000203785 MIM:617588; AllianceGenome:HGNC:11265 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 encodes a member of a family of small proline-rich proteins clustered in the epidermal differentiation complex on chromosome 1q21. The encoded protein, along with other family members, is a component of the cornified cell envelope that forms beneath the plasma membrane in terminally differentiated stratified squamous epithelia. This envelope serves as a barrier against extracellular and environmental factors. The seven SPRR2 genes (A-G) appear to have been homogenized by gene conversion compared to others in the cluster that exhibit greater differences in protein structure. [provided by RefSeq, Feb 2014] Expression Restricted expression toward esophagus (RPKM 706.9) See more Orthologs all
SPRR2F, Official Symbol SPRR2Fprovided by HGNC Official Full Name small proline rich protein 2Fprovided by HGNC Primary source HGNC:HGNC:11266 See related Ensembl:ENSG00000244094 MIM:617589; AllianceGenome:HGNC:11266 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 Summary Predicted to be involved in keratinization. Predicted to act upstream of or within response to estradiol. Predicted to be located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in esophagus (RPKM 38.5) and ovary (RPKM 21.7) See more
SPRR2G, Official Symbol SPRR2Gprovided by HGNC Official Full Name small proline rich protein 2Gprovided by HGNC Primary source HGNC:HGNC:11267 See related Ensembl:ENSG00000159516 MIM:617590; AllianceGenome:HGNC:11267 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 Summary Predicted to be involved in keratinization. Predicted to be located in cornified envelope and cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in esophagus (RPKM 33.8) and skin (RPKM 27.5) See more Orthologs all
SPRR3, Official Symbol SPRR3provided by HGNC Official Full Name small proline rich protein 3provided by HGNC Primary source HGNC:HGNC:11268 See related Ensembl:ENSG00000163209 MIM:182271; AllianceGenome:HGNC:11268 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 Summary Predicted to enable structural molecule activity. Predicted to be involved in wound healing. Located in Golgi apparatus and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward esophagus (RPKM 6973.3) See more Orthologs all
SPRR4, Official Symbol SPRR4provided by HGNC Official Full Name small proline rich protein 4provided by HGNC Primary source HGNC:HGNC:23173 See related Ensembl:ENSG00000184148 MIM:616363; AllianceGenome:HGNC:23173 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 Summary Predicted to be involved in keratinization. Predicted to be located in cell cortex. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in skin (RPKM 6.2) and testis (RPKM 1.2) See more Orthologs mouse all
SPRR5, Official Symbol SPRR5provided by HGNC Official Full Name small proline rich protein 5provided by HGNC Primary source HGNC:HGNC:53428 See related Ensembl:ENSG00000283227 AllianceGenome:HGNC:53428 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 Orthologs all
SPRTN, Official Symbol SPRTNprovided by HGNC Official Full Name SprT-like N-terminal domainprovided by HGNC Primary source HGNC:HGNC:25356 See related Ensembl:ENSG00000010072 MIM:616086; AllianceGenome:HGNC:25356 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 DVC1; PRO4323; spartan; C1orf124 Summary The protein encoded by this gene may play a role in DNA repair during replication of damaged DNA. This protein recruits valosin containing protein (p97) to stalled DNA replication forks where it may prevent excessive translesional DNA synthesis and limit the number of DNA-damage induced mutations. It may also be involved in replication-related G2/M-checkpoint regulation. Deficiency of a similar protein in mouse causes chromosomal instability and progeroid phenotypes. Mutations in this gene have been associated with Ruijs-Aalfs syndrome (RJALS). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015] Expression Broad expression in testis (RPKM 6.8), bone marrow (RPKM 3.1) and 24 other tissues See more Orthologs mouse all
SPRY1, Official Symbol SPRY1provided by HGNC Official Full Name sprouty RTK signaling antagonist 1provided by HGNC Primary source HGNC:HGNC:11269 See related Ensembl:ENSG00000164056 MIM:602465; AllianceGenome:HGNC:11269 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 hSPRY1 Summary Involved in negative regulation of fibroblast growth factor receptor signaling pathway. Located in Golgi apparatus; cytosol; and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 30.2), gall bladder (RPKM 30.0) and 25 other tissues See more Orthologs mouse all
SPRY2, Official Symbol SPRY2provided by HGNC Official Full Name sprouty RTK signaling antagonist 2provided by HGNC Primary source HGNC:HGNC:11270 See related Ensembl:ENSG00000136158 MIM:602466; AllianceGenome:HGNC:11270 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 IGAN3; hSPRY2 Summary This gene encodes a protein belonging to the sprouty family. The encoded protein contains a carboxyl-terminal cysteine-rich domain essential for the inhibitory activity on receptor tyrosine kinase signaling proteins and is required for growth factor stimulated translocation of the protein to membrane ruffles. In primary dermal endothelial cells this gene is transiently upregulated in response to fibroblast growth factor two. This protein is indirectly involved in the non-cell autonomous inhibitory effect on fibroblast growth factor two signaling. The protein interacts with Cas-Br-M (murine) ectropic retroviral transforming sequence, and can function as a bimodal regulator of epidermal growth factor receptor/mitogen-activated protein kinase signaling. This protein may play a role in alveoli branching during lung development as shown by a similar mouse protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 17.3), gall bladder (RPKM 13.7) and 25 other tissues See more Orthologs mouse all