psui3905/ncbi_genes_summary huggingface dataset:
SPRY3, Official Symbol SPRY3provided by HGNC Official Full Name sprouty RTK signaling antagonist 3provided by HGNC Primary source HGNC:HGNC:11271 See related Ensembl:ENSG00000168939 MIM:300531; AllianceGenome:HGNC:11271 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 spry-3 Summary Involved in negative regulation of MAPK cascade. Predicted to be located in membrane. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Annotation category: partial on reference assembly Expression Low expression observed in reference dataset See more Orthologs mouse all
SPRY4, Official Symbol SPRY4provided by HGNC Official Full Name sprouty RTK signaling antagonist 4provided by HGNC Primary source HGNC:HGNC:15533 See related Ensembl:ENSG00000187678 MIM:607984; AllianceGenome:HGNC:15533 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 HH17 Summary This gene encodes a member of a family of cysteine- and proline-rich proteins. The encoded protein is an inhibitor of the receptor-transduced mitogen-activated protein kinase (MAPK) signaling pathway. Activity of this protein impairs the formation of active GTP-RAS. Nucleotide variation in this gene has been associated with hypogonadotropic hypogonadism 17 with or without anosmia. Alternative splicing results in a multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Broad expression in lung (RPKM 7.4), adrenal (RPKM 7.0) and 24 other tissues See more Orthologs mouse all
SPRY4-AS1, Official Symbol SPRY4-AS1provided by HGNC Official Full Name SPRY4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53465 See related Ensembl:ENSG00000231185 AllianceGenome:HGNC:53465 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 THCAT68 Expression Low expression observed in reference dataset See more
SPRYD3, Official Symbol SPRYD3provided by HGNC Official Full Name SPRY domain containing 3provided by HGNC Primary source HGNC:HGNC:25920 See related Ensembl:ENSG00000167778 AllianceGenome:HGNC:25920 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 cell surface receptor signaling pathway and cytoskeleton organization. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 58.3), fat (RPKM 38.7) and 24 other tissues See more Orthologs mouse all
SPRYD4, Official Symbol SPRYD4provided by HGNC Official Full Name SPRY domain containing 4provided by HGNC Primary source HGNC:HGNC:27468 See related Ensembl:ENSG00000176422 AllianceGenome:HGNC:27468 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 Located in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in liver (RPKM 19.9), kidney (RPKM 8.6) and 25 other tissues See more Orthologs mouse all
SPRYD7, Official Symbol SPRYD7provided by HGNC Official Full Name SPRY domain containing 7provided by HGNC Primary source HGNC:HGNC:14297 See related Ensembl:ENSG00000123178 MIM:607866; AllianceGenome:HGNC:14297 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 CLLD6; C13orf1 Expression Ubiquitous expression in lung (RPKM 5.0), brain (RPKM 4.9) and 25 other tissues See more Orthologs mouse all
SPRYD7P1, Official Symbol SPRYD7P1provided by HGNC Official Full Name SPRY domain containing 7 pseudogene 1provided by HGNC Primary source HGNC:HGNC:52300 See related Ensembl:ENSG00000234404 AllianceGenome:HGNC:52300 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SPSB1, Official Symbol SPSB1provided by HGNC Official Full Name splA/ryanodine receptor domain and SOCS box containing 1provided by HGNC Primary source HGNC:HGNC:30628 See related Ensembl:ENSG00000171621 MIM:611657; AllianceGenome:HGNC:30628 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 SSB1; SSB-1 Summary Enables ubiquitin ligase-substrate adaptor activity. Involved in protein ubiquitination and ubiquitin-dependent protein catabolic process. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 16.9), gall bladder (RPKM 15.1) and 24 other tissues See more Orthologs mouse all
SPSB2, Official Symbol SPSB2provided by HGNC Official Full Name splA/ryanodine receptor domain and SOCS box containing 2provided by HGNC Primary source HGNC:HGNC:29522 See related Ensembl:ENSG00000111671 MIM:611658; AllianceGenome:HGNC:29522 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 SSB2; GRCC9 Summary This gene encodes a member of a subfamily of proteins containing a central SPRY (repeats in splA and RyR) domain and a C-terminal suppressor of cytokine signaling (SOCS) box. This protein plays a role in cell signaling. This gene is present in a gene-rich cluster on chromosome 12p13 in the vicinity of the CD4 antigen and triosephosphate isomerase genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Broad expression in brain (RPKM 50.3), appendix (RPKM 44.2) and 19 other tissues See more Orthologs mouse all
SPSB3, Official Symbol SPSB3provided by HGNC Official Full Name splA/ryanodine receptor domain and SOCS box containing 3provided by HGNC Primary source HGNC:HGNC:30629 See related Ensembl:ENSG00000162032 MIM:611659; AllianceGenome:HGNC:30629 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 SSB3; C16orf31 Summary Predicted to be involved in proteasome-mediated ubiquitin-dependent protein catabolic process. Predicted to be located in cytosol. Predicted to be part of SCF ubiquitin ligase complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 23.4), spleen (RPKM 22.6) and 25 other tissues See more Orthologs mouse all
SPSB4, Official Symbol SPSB4provided by HGNC Official Full Name splA/ryanodine receptor domain and SOCS box containing 4provided by HGNC Primary source HGNC:HGNC:30630 See related Ensembl:ENSG00000175093 MIM:611660; AllianceGenome:HGNC:30630 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 SSB4; SSB-4 Summary Enables ubiquitin ligase-substrate adaptor activity. Involved in cellular protein metabolic process; positive regulation of protein polyubiquitination; and regulation of circadian rhythm. Located in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SPTA1, Official Symbol SPTA1provided by HGNC Official Full Name spectrin alpha, erythrocytic 1provided by HGNC Primary source HGNC:HGNC:11272 See related Ensembl:ENSG00000163554 MIM:182860; AllianceGenome:HGNC:11272 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 EL2; HPP; HS3; SPH3; SPTA Summary This gene encodes a member of a family of molecular scaffold proteins that link the plasma membrane to the actin cytoskeleton and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. It forms a component of the erythrocyte plasma membrane. Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis-2, pyropoikilocytosis, and spherocytosis, type 3. [provided by RefSeq, Aug 2017] Expression Restricted expression toward bone marrow (RPKM 32.4) See more Orthologs mouse all
SPTAN1, Official Symbol SPTAN1provided by HGNC Official Full Name spectrin alpha, non-erythrocytic 1provided by HGNC Primary source HGNC:HGNC:11273 See related Ensembl:ENSG00000197694 MIM:182810; AllianceGenome:HGNC:11273 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 DEE5; NEAS; EIEE5; SPTA2 Summary Spectrins are a family of filamentous cytoskeletal proteins that function as essential scaffold proteins that stabilize the plasma membrane and organize intracellular organelles. Spectrins are composed of alpha and beta dimers that associate to form tetramers linked in a head-to-head arrangement. This gene encodes an alpha spectrin that is specifically expressed in nonerythrocytic cells. The encoded protein has been implicated in other cellular functions including DNA repair and cell cycle regulation. Mutations in this gene are the cause of early infantile epileptic encephalopathy-5. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Sep 2010] Expression Ubiquitous expression in brain (RPKM 87.7), testis (RPKM 42.9) and 24 other tissues See more Orthologs mouse all
SPTB, Official Symbol SPTBprovided by HGNC Official Full Name spectrin beta, erythrocyticprovided by HGNC Primary source HGNC:HGNC:11274 See related Ensembl:ENSG00000070182 MIM:182870; AllianceGenome:HGNC:11274 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 EL3; HS2; SPH2; HSPTB1 Summary This locus encodes a member of the spectrin gene family. Spectrin proteins, along with ankyrin, play a role in cell membrane organization and stability. The protein encoded by this locus functions in stability of erythrocyte membranes, and mutations in this gene have been associated with spherocytosis type 2, hereditary elliptocytosis, and neonatal hemolytic anemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009] Expression Biased expression in bone marrow (RPKM 15.7), heart (RPKM 8.2) and 8 other tissues See more Orthologs mouse all
SPTBN1, Official Symbol SPTBN1provided by HGNC Official Full Name spectrin beta, non-erythrocytic 1provided by HGNC Primary source HGNC:HGNC:11275 See related Ensembl:ENSG00000115306 MIM:182790; AllianceGenome:HGNC:11275 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 ELF; SPTB2; DDISBA; HEL102; betaSpII Summary Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein contains an N-terminal actin-binding domain, and 17 spectrin repeats which are involved in dimer formation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 102.5), lung (RPKM 72.2) and 24 other tissues See more Orthologs mouse all
SPTBN2, Official Symbol SPTBN2provided by HGNC Official Full Name spectrin beta, non-erythrocytic 2provided by HGNC Primary source HGNC:HGNC:11276 See related Ensembl:ENSG00000173898 MIM:604985; AllianceGenome:HGNC:11276 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 SCA5; SCAR14; GTRAP41 Summary Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. [provided by RefSeq, Dec 2009] Expression Biased expression in skin (RPKM 16.1), testis (RPKM 12.4) and 8 other tissues See more Orthologs mouse all
SPTBN4, Official Symbol SPTBN4provided by HGNC Official Full Name spectrin beta, non-erythrocytic 4provided by HGNC Primary source HGNC:HGNC:14896 See related Ensembl:ENSG00000160460 MIM:606214; AllianceGenome:HGNC:14896 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 QV; CMND; SPNB4; NEDHND; SPTBN3 Summary Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. It is composed of two antiparallel dimers of alpha- and beta- subunits. This gene is one member of a family of beta-spectrin genes. The encoded protein localizes to the nuclear matrix, PML nuclear bodies, and cytoplasmic vesicles. A highly similar gene in the mouse is required for localization of specific membrane proteins in polarized regions of neurons. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 4.1), testis (RPKM 0.9) and 9 other tissues See more Orthologs mouse all
SPTBN5, Official Symbol SPTBN5provided by HGNC Official Full Name spectrin beta, non-erythrocytic 5provided by HGNC Primary source HGNC:HGNC:15680 See related Ensembl:ENSG00000137877 MIM:605916; AllianceGenome:HGNC:15680 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 BSPECV; HUSPECV; HUBSPECV Summary Enables several functions, including cytoskeletal protein binding activity; dynein intermediate chain binding activity; and identical protein binding activity. Acts upstream of or within Golgi organization and lysosomal transport. Located in cytoplasm; photoreceptor connecting cilium; and photoreceptor disc membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
SPTLC1, Official Symbol SPTLC1provided by HGNC Official Full Name serine palmitoyltransferase long chain base subunit 1provided by HGNC Primary source HGNC:HGNC:11277 See related Ensembl:ENSG00000090054 MIM:605712; AllianceGenome:HGNC:11277 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 HSN1; LBC1; LCB1; SPT1; SPTI; ALS27; HSAN1 Summary This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in thyroid (RPKM 21.8), esophagus (RPKM 19.8) and 25 other tissues See more Orthologs mouse all
SPTLC1P1, Official Symbol SPTLC1P1provided by HGNC Official Full Name serine palmitoyltransferase long chain base subunit 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:39668 See related Ensembl:ENSG00000230397 AllianceGenome:HGNC:39668 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SPTLC1P3, Official Symbol SPTLC1P3provided by HGNC Official Full Name serine palmitoyltransferase long chain base subunit 1 pseudogene 3provided by HGNC Primary source HGNC:HGNC:39670 See related Ensembl:ENSG00000219940 AllianceGenome:HGNC:39670 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SPTLC1P4, Official Symbol SPTLC1P4provided by HGNC Official Full Name serine palmitoyltransferase long chain base subunit 1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:39671 See related Ensembl:ENSG00000232678 AllianceGenome:HGNC:39671 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SPTLC1P5, Official Symbol SPTLC1P5provided by HGNC Official Full Name serine palmitoyltransferase long chain base subunit 1 pseudogene 5provided by HGNC Primary source HGNC:HGNC:39672 See related Ensembl:ENSG00000227922 AllianceGenome:HGNC:39672 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SPTLC2, Official Symbol SPTLC2provided by HGNC Official Full Name serine palmitoyltransferase long chain base subunit 2provided by HGNC Primary source HGNC:HGNC:11278 See related Ensembl:ENSG00000100596 MIM:605713; AllianceGenome:HGNC:11278 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 LCB2; SPT2; HSN1C; LCB2A; NSAN1C; hLCB2a Summary This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in esophagus (RPKM 11.7), colon (RPKM 11.4) and 25 other tissues See more Orthologs mouse all
SPTLC3, Official Symbol SPTLC3provided by HGNC Official Full Name serine palmitoyltransferase long chain base subunit 3provided by HGNC Primary source HGNC:HGNC:16253 See related Ensembl:ENSG00000172296 MIM:611120; AllianceGenome:HGNC:16253 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 LCB3; SPT3; LCB 3; LCB2B; SPT 3; hLCB2b; SPTLC2L; C20orf38; dJ718P11; dJ718P11.1 Summary This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases. [provided by RefSeq, Mar 2017] Expression Broad expression in placenta (RPKM 7.5), thyroid (RPKM 7.0) and 22 other tissues See more Orthologs mouse all
SPTSSA, Official Symbol SPTSSAprovided by HGNC Official Full Name serine palmitoyltransferase small subunit Aprovided by HGNC Primary source HGNC:HGNC:20361 See related Ensembl:ENSG00000165389 MIM:613540; AllianceGenome:HGNC:20361 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 SPG90A; SPG90B; SSSPTA; C14orf147 Summary Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTA is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010] Expression Ubiquitous expression in adrenal (RPKM 46.3), colon (RPKM 28.8) and 23 other tissues See more Orthologs mouse all
SPTSSB, Official Symbol SPTSSBprovided by HGNC Official Full Name serine palmitoyltransferase small subunit Bprovided by HGNC Primary source HGNC:HGNC:24045 See related Ensembl:ENSG00000196542 MIM:610412; AllianceGenome:HGNC:24045 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 ADMP; SSSPTB; C3orf57 Summary Serine palmitoyltransferase (SPT; EC 2.3.1.50) catalyzes the first committed and rate-limiting step in sphingolipid biosynthesis. SSSPTB is a small SPT subunit that stimulates SPT activity and confers acyl-CoA preference to the SPT catalytic heterodimer of SPTLC1 (MIM 605712) and either SPTLC2 (MIM 605713) or SPTLC3 (MIM 611120) (Han et al., 2009 [PubMed 19416851]).[supplied by OMIM, Nov 2010] Expression Biased expression in stomach (RPKM 17.1), skin (RPKM 13.9) and 5 other tissues See more Orthologs mouse all
SPTY2D1, Official Symbol SPTY2D1provided by HGNC Official Full Name SPT2 chromatin protein domain containing 1provided by HGNC Primary source HGNC:HGNC:26818 See related Ensembl:ENSG00000179119 AllianceGenome:HGNC:26818 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 Spt2 Summary Enables DNA binding activity and histone binding activity. Involved in nucleosome organization; regulation of chromatin assembly; and regulation of transcription, DNA-templated. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 18.4), gall bladder (RPKM 8.3) and 25 other tissues See more Orthologs mouse all
SPX, Official Symbol SPXprovided by HGNC Official Full Name spexin hormoneprovided by HGNC Primary source HGNC:HGNC:28139 See related Ensembl:ENSG00000134548 MIM:619246; AllianceGenome:HGNC:28139 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 SPX1; C12orf39 Summary The protein encoded by this gene is a hormone involved in modulation of cardiovascular and renal function. It has also been shown in rats to cause weight loss. Several transcript variants have been found for this gene. [provided by RefSeq, Feb 2016] Expression Biased expression in fat (RPKM 72.3), thyroid (RPKM 9.5) and 4 other tissues See more Orthologs mouse all
SPZ1, Official Symbol SPZ1provided by HGNC Official Full Name spermatogenic leucine zipper 1provided by HGNC Primary source HGNC:HGNC:30721 See related Ensembl:ENSG00000164299 MIM:618068; AllianceGenome:HGNC:30721 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 CILD38; NYD-TSP1; PPP1R148 Summary This gene encodes a bHLH-zip transcription factor which functions in the mitogen-activate protein kinase (MAPK) signaling pathway. Because of its role in the upregulation of cell proliferation and tumorigenesis, this gene may serve as a target for Ras-induced tumor treatments. [provided by RefSeq, Oct 2011] Orthologs mouse all
SQLE, Official Symbol SQLEprovided by HGNC Official Full Name squalene epoxidaseprovided by HGNC Primary source HGNC:HGNC:11279 See related Ensembl:ENSG00000104549 MIM:602019; AllianceGenome:HGNC:11279 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 Enables FAD binding activity and squalene monooxygenase activity. Involved in lipid droplet formation; regulation of cell population proliferation; and sterol biosynthetic process. Located in intracellular membrane-bounded organelle. Is integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 28.6), esophagus (RPKM 19.3) and 22 other tissues See more Orthologs mouse all
SQOR, Official Symbol SQORprovided by HGNC Official Full Name sulfide quinone oxidoreductaseprovided by HGNC Primary source HGNC:HGNC:20390 See related Ensembl:ENSG00000137767 MIM:617658; AllianceGenome:HGNC:20390 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 SQR; SQRDL; CGI-44; PRO1975 Summary The protein encoded by this gene may function in mitochondria to catalyze the conversion of sulfide to persulfides, thereby decreasing toxic concencrations of sulfide. Alternative splicing results in multiple transcript variants that encode the same protein. [provided by RefSeq, Sep 2012] Expression Broad expression in colon (RPKM 63.6), esophagus (RPKM 32.6) and 21 other tissues See more Orthologs mouse all
SQSTM1, Official Symbol SQSTM1provided by HGNC Official Full Name sequestosome 1provided by HGNC Primary source HGNC:HGNC:11280 See related Ensembl:ENSG00000161011 MIM:601530; AllianceGenome:HGNC:11280 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 p60; p62; A170; DMRV; OSIL; PDB3; ZIP3; p62B; NADGP; FTDALS3 Summary This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protein in concert with TNF receptor-associated factor 6 to mediate activation of NF-kB in response to upstream signals. Alternatively spliced transcript variants encoding either the same or different isoforms have been identified for this gene. Mutations in this gene result in sporadic and familial Paget disease of bone. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in thyroid (RPKM 57.3), gall bladder (RPKM 54.3) and 25 other tissues See more Orthologs mouse all
SQSTM1P1, Official Symbol SQSTM1P1provided by HGNC Official Full Name sequestosome 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49099 See related Ensembl:ENSG00000271465 AllianceGenome:HGNC:49099 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SRA1, Official Symbol SRA1provided by HGNC Official Full Name steroid receptor RNA activator 1provided by HGNC Primary source HGNC:HGNC:11281 See related Ensembl:ENSG00000213523 MIM:603819; AllianceGenome:HGNC:11281 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 SRA; SRAP; STRAA1; pp7684 Summary Both long non-coding and protein-coding RNAs are transcribed from this gene, and they represent alternatively spliced transcript variants. This gene was initially defined as a non-coding RNA, which is a coactivator for several nuclear receptors (NRs) and is associated with breast cancer. It has now been found that this gene is involved in the regulation of many NR and non-NR activities, including metabolism, adipogenesis and chromatin organization. The long non-coding RNA transcripts interact with a variety of proteins, including the protein encoded by this gene. The encoded protein acts as a transcriptional repressor by binding to the non-coding RNA. [provided by RefSeq, Mar 2012] Expression Ubiquitous expression in adrenal (RPKM 15.0), testis (RPKM 12.4) and 25 other tissues See more Orthologs mouse all
SRARP, Official Symbol SRARPprovided by HGNC Official Full Name steroid receptor associated and regulated proteinprovided by HGNC Primary source HGNC:HGNC:28339 See related Ensembl:ENSG00000183888 MIM:619448; AllianceGenome:HGNC:28339 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 ERRF; C1orf64 Summary Enables estrogen receptor binding activity. Involved in positive regulation of intracellular estrogen receptor signaling pathway. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in endometrium (RPKM 2.9), salivary gland (RPKM 2.4) and 4 other tissues See more Orthologs mouse all
SRBD1, Official Symbol SRBD1provided by HGNC Official Full Name S1 RNA binding domain 1provided by HGNC Primary source HGNC:HGNC:25521 See related Ensembl:ENSG00000068784 AllianceGenome:HGNC:25521 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 mRNA binding activity. Predicted to be a structural constituent of ribosome. Predicted to be involved in translation. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 5.6), testis (RPKM 5.3) and 25 other tissues See more Orthologs mouse all
SRC, Official Symbol SRCprovided by HGNC Official Full Name SRC proto-oncogene, non-receptor tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:11283 See related Ensembl:ENSG00000197122 MIM:190090; AllianceGenome:HGNC:11283 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 ASV; SRC1; THC6; c-SRC; p60-Src Summary This gene is highly similar to the v-src gene of Rous sarcoma virus. This proto-oncogene may play a role in the regulation of embryonic development and cell growth. The protein encoded by this gene is a tyrosine-protein kinase whose activity can be inhibited by phosphorylation by c-SRC kinase. Mutations in this gene could be involved in the malignant progression of colon cancer. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in stomach (RPKM 19.0), testis (RPKM 19.0) and 25 other tissues See more Orthologs mouse all
SRCAP, Official Symbol SRCAPprovided by HGNC Official Full Name Snf2 related CREBBP activator proteinprovided by HGNC Primary source HGNC:HGNC:16974 See related Ensembl:ENSG00000080603 MIM:611421; AllianceGenome:HGNC:16974 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 EAF1; FLHS; SWR1; DOMO1; DEHMBA Summary This gene encodes the core catalytic component of the multiprotein chromatin-remodeling SRCAP complex. The encoded protein is an ATPase that is necessary for the incorporation of the histone variant H2A.Z into nucleosomes. It can function as a transcriptional activator in Notch-mediated, CREB-mediated and steroid receptor-mediated transcription. Mutations in this gene cause Floating-Harbor syndrome, a rare disorder characterized by short stature, language deficits and dysmorphic facial features. [provided by RefSeq, Feb 2012] Expression Ubiquitous expression in testis (RPKM 12.4), spleen (RPKM 11.6) and 25 other tissues See more Orthologs mouse all
SRCIN1, Official Symbol SRCIN1provided by HGNC Official Full Name SRC kinase signaling inhibitor 1provided by HGNC Primary source HGNC:HGNC:29506 See related Ensembl:ENSG00000277363 MIM:610786; AllianceGenome:HGNC:29506 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 P140; SNIP Summary Enables protein kinase binding activity. Involved in several processes, including regulation of dendritic spine morphogenesis; regulation of protein tyrosine kinase activity; and substrate adhesion-dependent cell spreading. Located in actin cytoskeleton and cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 9.1), salivary gland (RPKM 1.2) and 2 other tissues See more Orthologs mouse all
SRD5A1, Official Symbol SRD5A1provided by HGNC Official Full Name steroid 5 alpha-reductase 1provided by HGNC Primary source HGNC:HGNC:11284 See related Ensembl:ENSG00000145545 MIM:184753; AllianceGenome:HGNC:11284 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 S5AR 1 Summary Steroid 5-alpha-reductase (EC 1.3.99.5) catalyzes the conversion of testosterone into the more potent androgen, dihydrotestosterone (DHT). Also see SRD5A2 (MIM 607306).[supplied by OMIM, Mar 2008] Expression Broad expression in esophagus (RPKM 13.2), skin (RPKM 10.7) and 24 other tissues See more Orthologs mouse all
SRD5A2, Official Symbol SRD5A2provided by HGNC Official Full Name steroid 5 alpha-reductase 2provided by HGNC Primary source HGNC:HGNC:11285 See related Ensembl:ENSG00000277893 MIM:607306; AllianceGenome:HGNC:11285 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 microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008] Expression Biased expression in liver (RPKM 13.3), prostate (RPKM 8.5) and 2 other tissues See more Orthologs mouse all
SRD5A2P1, Official Symbol SRD5A2P1provided by HGNC Official Full Name SRD5A2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:55160 See related Ensembl:ENSG00000230491 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SRD5A3, Official Symbol SRD5A3provided by HGNC Official Full Name steroid 5 alpha-reductase 3provided by HGNC Primary source HGNC:HGNC:25812 See related Ensembl:ENSG00000128039 MIM:611715; AllianceGenome:HGNC:25812 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 S5AR; CDG1P; CDG1Q; KRIZI; S5AR 3; SRD5A2L; SRD5A2L1 Summary The protein encoded by this gene belongs to the steroid 5-alpha reductase family, and polyprenol reductase subfamily. It is involved in the production of androgen 5-alpha-dihydrotestosterone (DHT) from testosterone, and maintenance of the androgen-androgen receptor activation pathway. This protein is also necessary for the conversion of polyprenol into dolichol, which is required for the synthesis of dolichol-linked monosaccharides and the oligosaccharide precursor used for N-linked glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type Iq. [provided by RefSeq, Mar 2011] Expression Ubiquitous expression in gall bladder (RPKM 7.7), endometrium (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
SRD5A3-AS1, Official Symbol SRD5A3-AS1provided by HGNC Official Full Name SRD5A3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44138 See related Ensembl:ENSG00000249700 AllianceGenome:HGNC:44138 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 Biased expression in testis (RPKM 4.9), spleen (RPKM 0.7) and 5 other tissues See more
SREBF1, Official Symbol SREBF1provided by HGNC Official Full Name sterol regulatory element binding transcription factor 1provided by HGNC Primary source HGNC:HGNC:11289 See related Ensembl:ENSG00000072310 MIM:184756; AllianceGenome:HGNC:11289 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 HMD; IFAP2; SREBP1; bHLHd1 Summary This gene encodes a basic helix-loop-helix-leucine zipper (bHLH-Zip) transcription factor that binds to the sterol regulatory element-1 (SRE1), which is a motif that is found in the promoter of the low density lipoprotein receptor gene and other genes involved in sterol biosynthesis. The encoded protein is synthesized as a precursor that is initially attached to the nuclear membrane and endoplasmic reticulum. Following cleavage, the mature protein translocates to the nucleus and activates transcription. This cleaveage is inhibited by sterols. This gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative promoter usage and splicing result in multiple transcript variants, including SREBP-1a and SREBP-1c, which correspond to RefSeq transcript variants 2 and 3, respectively. [provided by RefSeq, Nov 2017] Expression Ubiquitous expression in fat (RPKM 35.7), adrenal (RPKM 34.6) and 24 other tissues See more Orthologs mouse all
SREBF2, Official Symbol SREBF2provided by HGNC Official Full Name sterol regulatory element binding transcription factor 2provided by HGNC Primary source HGNC:HGNC:11290 See related Ensembl:ENSG00000198911 MIM:600481; AllianceGenome:HGNC:11290 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 SREBP2; bHLHd2; SREBP-2 Summary This gene encodes a member of the a ubiquitously expressed transcription factor that controls cholesterol homeostasis by regulating transcription of sterol-regulated genes. The encoded protein contains a basic helix-loop-helix-leucine zipper (bHLH-Zip) domain and binds the sterol regulatory element 1 motif. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in brain (RPKM 36.5), esophagus (RPKM 27.8) and 25 other tissues See more Orthologs mouse all
SREK1, Official Symbol SREK1provided by HGNC Official Full Name splicing regulatory glutamic acid and lysine rich protein 1provided by HGNC Primary source HGNC:HGNC:17882 See related Ensembl:ENSG00000153914 MIM:609268; AllianceGenome:HGNC:17882 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 SFRS12; SRrp86; SRrp508 Summary This gene encodes a member of a family of serine/arginine-rich (SR) splicing proteins containing RNA recognition motif (RRM) domains. The encoded protein interacts with other SR proteins to modulate splice site selection. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in bone marrow (RPKM 19.8), thyroid (RPKM 10.9) and 25 other tissues See more Orthologs mouse all
SREK1IP1, Official Symbol SREK1IP1provided by HGNC Official Full Name SREK1 interacting protein 1provided by HGNC Primary source HGNC:HGNC:26716 See related Ensembl:ENSG00000153006 AllianceGenome:HGNC:26716 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 P18SRP; SFRS12IP1 Summary Predicted to enable nucleic acid binding activity and zinc ion binding activity. Predicted to be involved in RNA splicing and mRNA processing. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 4.8), placenta (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
SREK1IP1P1, Official Symbol SREK1IP1P1provided by HGNC Official Full Name SREK1IP1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:54504 See related AllianceGenome:HGNC:54504 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SREK1IP1P2, Official Symbol SREK1IP1P2provided by HGNC Official Full Name SREK1IP1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:54505 See related Ensembl:ENSG00000271227 AllianceGenome:HGNC:54505 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SRF, Official Symbol SRFprovided by HGNC Official Full Name serum response factorprovided by HGNC Primary source HGNC:HGNC:11291 See related Ensembl:ENSG00000112658 MIM:600589; AllianceGenome:HGNC:11291 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 MCM1 Summary This gene encodes a ubiquitous nuclear protein that stimulates both cell proliferation and differentiation. It is a member of the MADS (MCM1, Agamous, Deficiens, and SRF) box superfamily of transcription factors. This protein binds to the serum response element (SRE) in the promoter region of target genes. This protein regulates the activity of many immediate-early genes, for example c-fos, and thereby participates in cell cycle regulation, apoptosis, cell growth, and cell differentiation. This gene is the downstream target of many pathways; for example, the mitogen-activated protein kinase pathway (MAPK) that acts through the ternary complex factors (TCFs). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014] Expression Ubiquitous expression in prostate (RPKM 20.2), heart (RPKM 19.8) and 25 other tissues See more Orthologs mouse all
SRFBP1, Official Symbol SRFBP1provided by HGNC Official Full Name serum response factor binding protein 1provided by HGNC Primary source HGNC:HGNC:26333 See related Ensembl:ENSG00000151304 MIM:610479; AllianceGenome:HGNC:26333 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 P49; Rlb1; BUD22; STRAP; p49/STRAP Summary Enables RNA binding activity. Predicted to be involved in maturation of SSU-rRNA. Predicted to be located in perinuclear region of cytoplasm. Predicted to be part of 90S preribosome. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 4.8), fat (RPKM 4.6) and 25 other tissues See more Orthologs mouse all
SRGAP1, Official Symbol SRGAP1provided by HGNC Official Full Name SLIT-ROBO Rho GTPase activating protein 1provided by HGNC Primary source HGNC:HGNC:17382 See related Ensembl:ENSG00000196935 MIM:606523; AllianceGenome:HGNC:17382 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 NMTC2; ARHGAP13 Summary The protein encoded by this gene is a GTPase activator, working with the GTPase CDC42 to negatively regulate neuronal migration. The encoded protein interacts with the transmembrane receptor ROBO1 to inactivate CDC42. [provided by RefSeq, Sep 2016] Expression Ubiquitous expression in testis (RPKM 2.6), thyroid (RPKM 2.5) and 24 other tissues See more Orthologs mouse all