psui3905/ncbi_genes_summary huggingface dataset:
GOLPH3, Official Symbol GOLPH3provided by HGNC Official Full Name golgi phosphoprotein 3provided by HGNC Primary source HGNC:HGNC:15452 See related Ensembl:ENSG00000113384 MIM:612207; AllianceGenome:HGNC:15452 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 GOPP1; GPP34; MIDAS; Vps74 Summary The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a peripheral membrane protein of the Golgi stack and may have a regulatory role in Golgi trafficking. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of these variants has not been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in gall bladder (RPKM 38.1), prostate (RPKM 32.0) and 25 other tissues See more Orthologs mouse all
GOLPH3L, Official Symbol GOLPH3Lprovided by HGNC Official Full Name golgi phosphoprotein 3 likeprovided by HGNC Primary source HGNC:HGNC:24882 See related Ensembl:ENSG00000143457 MIM:612208; AllianceGenome:HGNC:24882 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 GPP34R Summary The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is localized at the Golgi stack and may have a regulatory role in Golgi trafficking. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in colon (RPKM 16.0), thyroid (RPKM 15.0) and 25 other tissues See more Orthologs mouse all
GOLT1A, Official Symbol GOLT1Aprovided by HGNC Official Full Name golgi transport 1Aprovided by HGNC Primary source HGNC:HGNC:24766 See related Ensembl:ENSG00000174567 AllianceGenome:HGNC:24766 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 GOT1; hGOT1b; CGI-141; YMR292W; HMFN1187 Summary Predicted to be involved in endoplasmic reticulum to Golgi vesicle-mediated transport. Located in Golgi apparatus subcompartment; endoplasmic reticulum; and nuclear envelope. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 34.0), duodenum (RPKM 16.2) and 5 other tissues See more Orthologs mouse all
GOLT1B, Official Symbol GOLT1Bprovided by HGNC Official Full Name golgi transport 1Bprovided by HGNC Primary source HGNC:HGNC:20175 See related Ensembl:ENSG00000111711 MIM:615078; AllianceGenome:HGNC:20175 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 GCT2; GOT1; GOT1B; CGI-141; YMR292W Summary Involved in positive regulation of I-kappaB kinase/NF-kappaB signaling. Located in endoplasmic reticulum. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 8.4), adrenal (RPKM 8.0) and 25 other tissues See more Orthologs mouse all
GON4L, Official Symbol GON4Lprovided by HGNC Official Full Name gon-4 likeprovided by HGNC Primary source HGNC:HGNC:25973 See related Ensembl:ENSG00000116580 MIM:610393; AllianceGenome:HGNC:25973 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 GON4; YARP; GON-4 Summary Predicted to enable transcription coregulator activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to act upstream of or within B cell differentiation. Located in nuclear body. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 11.0), spleen (RPKM 8.9) and 25 other tissues See more Orthologs mouse all
GON7, Official Symbol GON7provided by HGNC Official Full Name GON7 subunit of KEOPS complexprovided by HGNC Primary source HGNC:HGNC:20356 See related Ensembl:ENSG00000170270 MIM:617436; AllianceGenome:HGNC:20356 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 PNAS-127; C14orf142 Summary Located in cytosol; nucleolus; and nucleoplasm. Part of EKC/KEOPS complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 9.4), kidney (RPKM 8.3) and 25 other tissues See more Orthologs all
GOPC, Official Symbol GOPCprovided by HGNC Official Full Name golgi associated PDZ and coiled-coil motif containingprovided by HGNC Primary source HGNC:HGNC:17643 See related Ensembl:ENSG00000047932 MIM:606845; AllianceGenome:HGNC:17643 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 CAL; FIG; PIST; GOPC1; dJ94G16.2 Summary This gene encodes a Golgi protein with a PDZ domain. The PDZ domain is globular and proteins which contain them bind other proteins through short motifs near the C-termini. Mice which are deficient in the orthologous protein have globozoospermia and are infertile. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] Expression Ubiquitous expression in thyroid (RPKM 17.5), endometrium (RPKM 15.4) and 25 other tissues See more Orthologs mouse all
GORAB, Official Symbol GORABprovided by HGNC Official Full Name golgin, RAB6 interactingprovided by HGNC Primary source HGNC:HGNC:25676 See related Ensembl:ENSG00000120370 MIM:607983; AllianceGenome:HGNC:25676 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 GO; NTKLBP1; SCYL1BP1 Summary This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009] Expression Ubiquitous expression in testis (RPKM 3.9), lymph node (RPKM 3.7) and 25 other tissues See more Orthologs mouse all
GORAB-AS1, Official Symbol GORAB-AS1provided by HGNC Official Full Name GORAB antisense RNA 1provided by HGNC Primary source HGNC:HGNC:54051 See related AllianceGenome:HGNC:54051 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 Low expression observed in reference dataset See more
GORASP1, Official Symbol GORASP1provided by HGNC Official Full Name golgi reassembly stacking protein 1provided by HGNC Primary source HGNC:HGNC:16769 See related Ensembl:ENSG00000114745 MIM:606867; AllianceGenome:HGNC:16769 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 P65; GOLPH5; GRASP65 Summary The Golgi complex plays a key role in the sorting and modification of proteins exported from the endoplasmic reticulum. The protein encoded by this gene is a membrane protein involved in establishing the stacked structure of the Golgi apparatus. It is a caspase-3 substrate, and cleavage of this encoded protein contributes to Golgi fragmentation in apoptosis. This encoded protein can form a complex with the Golgi matrix protein GOLGA2, and this complex binds to the vesicle docking protein p115. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013] Expression Ubiquitous expression in testis (RPKM 12.9), brain (RPKM 12.1) and 25 other tissues See more Orthologs mouse all
GORASP2, Official Symbol GORASP2provided by HGNC Official Full Name golgi reassembly stacking protein 2provided by HGNC Primary source HGNC:HGNC:17500 See related Ensembl:ENSG00000115806 MIM:608693; AllianceGenome:HGNC:17500 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 p59; GRS2; GOLPH6; GRASP55 Summary This gene encodes a member of the Golgi reassembly stacking protein family. These proteins may play a role in the stacking of Golgi cisternae and Golgi ribbon formation, as well as Golgi fragmentation during apoptosis or mitosis. The encoded protein also plays a role in the intracellular transport of transforming growth factor alpha and may function as a molecular chaperone. A pseudogene of this gene is located on the short arm of chromosome 2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in thyroid (RPKM 25.6), placenta (RPKM 23.9) and 25 other tissues See more Orthologs mouse all
GOSR1, Official Symbol GOSR1provided by HGNC Official Full Name golgi SNAP receptor complex member 1provided by HGNC Primary source HGNC:HGNC:4430 See related Ensembl:ENSG00000108587 MIM:604026; AllianceGenome:HGNC:4430 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 P28; GS28; GOS28; GOLIM2; GOS-28; GOS28/P28 Summary This gene encodes a trafficking membrane protein which transports proteins among the endoplasmic reticulum and the Golgi and between Golgi compartments. This protein is considered an essential component of the Golgi SNAP receptor (SNARE) complex. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 7.3), kidney (RPKM 5.6) and 25 other tissues See more Orthologs mouse all
GOSR2, Official Symbol GOSR2provided by HGNC Official Full Name golgi SNAP receptor complex member 2provided by HGNC Primary source HGNC:HGNC:4431 See related Ensembl:ENSG00000108433 MIM:604027; AllianceGenome:HGNC:4431 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 Bos1; EPM6; GS27; MYOS Summary This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its chromosomal location and trafficking function, this gene may be involved in familial essential hypertension. [provided by RefSeq, Mar 2016] Expression Ubiquitous expression in duodenum (RPKM 6.1), small intestine (RPKM 5.4) and 25 other tissues See more Orthologs mouse all
GOT1, Official Symbol GOT1provided by HGNC Official Full Name glutamic-oxaloacetic transaminase 1provided by HGNC Primary source HGNC:HGNC:4432 See related Ensembl:ENSG00000120053 MIM:138180; AllianceGenome:HGNC:4432 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 AST; AST1; SGOT; cCAT; GIG18; cAspAT; ASTQTL1 Summary Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. [provided by RefSeq, Jul 2008] Expression Broad expression in heart (RPKM 196.1), liver (RPKM 87.7) and 14 other tissues See more Orthologs mouse all
GOT1L1, Official Symbol GOT1L1provided by HGNC Official Full Name glutamic-oxaloacetic transaminase 1 like 1provided by HGNC Primary source HGNC:HGNC:28487 See related Ensembl:ENSG00000169154 AllianceGenome:HGNC:28487 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 L-aspartate:2-oxoglutarate aminotransferase activity. Predicted to be involved in aspartate biosynthetic process. Predicted to be active in cytosol. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 2.6) See more Orthologs mouse all
GOT2, Official Symbol GOT2provided by HGNC Official Full Name glutamic-oxaloacetic transaminase 2provided by HGNC Primary source HGNC:HGNC:4433 See related Ensembl:ENSG00000125166 MIM:138150; AllianceGenome:HGNC:4433 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 KAT4; DEE82; KATIV; KYAT4; mitAAT Summary Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013] Expression Broad expression in heart (RPKM 129.5), liver (RPKM 91.0) and 24 other tissues See more Orthologs mouse all
GOT2P1, Official Symbol GOT2P1provided by HGNC Official Full Name GOT2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:4434 See related Ensembl:ENSG00000231900 AllianceGenome:HGNC:4434 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 GOT2L1
GOT2P3, Official Symbol GOT2P3provided by HGNC Official Full Name GOT2 pseudogene 3provided by HGNC Primary source HGNC:HGNC:4436 See related Ensembl:ENSG00000233719 AllianceGenome:HGNC:4436 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 GOT2L3; GOT2L3P
GOT2P5, Official Symbol GOT2P5provided by HGNC Official Full Name GOT2 pseudogene 5provided by HGNC Primary source HGNC:HGNC:38439 See related Ensembl:ENSG00000233634 AllianceGenome:HGNC:38439 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 GOT2Y
GOT2P7, Official Symbol GOT2P7provided by HGNC Official Full Name GOT2 pseudogene 7provided by HGNC Primary source HGNC:HGNC:54892 See related Ensembl:ENSG00000232392 AllianceGenome:HGNC:54892 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GP1BA, Official Symbol GP1BAprovided by HGNC Official Full Name glycoprotein Ib platelet subunit alphaprovided by HGNC Primary source HGNC:HGNC:4439 See related Ensembl:ENSG00000185245 MIM:606672; AllianceGenome:HGNC:4439 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 BSS; GP1B; VWDP; CD42B; GPIbA; BDPLT1; BDPLT3; DBPLT3; GPIbalpha; CD42b-alpha Summary Glycoprotein Ib (GP Ib) is a platelet surface membrane glycoprotein composed of a heterodimer, an alpha chain and a beta chain, that is linked by disulfide bonds. The Gp Ib functions as a receptor for von Willebrand factor (VWF). The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX and platelet glycoprotein V. The binding of the GP Ib-IX-V complex to VWF facilitates initial platelet adhesion to vascular subendothelium after vascular injury, and also initiates signaling events within the platelet that lead to enhanced platelet activation, thrombosis, and hemostasis. This gene encodes the alpha subunit. Mutations in this gene result in Bernard-Soulier syndromes and platelet-type von Willebrand disease. The coding region of this gene is known to contain a polymophic variable number tandem repeat (VNTR) domain that is associated with susceptibility to nonarteritic anterior ischemic optic neuropathy. [provided by RefSeq, Oct 2013] Expression Biased expression in lymph node (RPKM 7.8), spleen (RPKM 2.5) and 9 other tissues See more Orthologs mouse all
GP1BB, Official Symbol GP1BBprovided by HGNC Official Full Name glycoprotein Ib platelet subunit betaprovided by HGNC Primary source HGNC:HGNC:4440 See related Ensembl:ENSG00000203618 MIM:138720; AllianceGenome:HGNC:4440 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 BS; CD42C; GPIBB; BDPLT1; GPIbbeta Summary Platelet glycoprotein Ib (GPIb) is a heterodimeric transmembrane protein consisting of a disulfide-linked 140 kD alpha chain and 22 kD beta chain. It is part of the GPIb-V-IX system that constitutes the receptor for von Willebrand factor (VWF), and mediates platelet adhesion in the arterial circulation. GPIb alpha chain provides the VWF binding site, and GPIb beta contributes to surface expression of the receptor and participates in transmembrane signaling through phosphorylation of its intracellular domain. Mutations in the GPIb beta subunit have been associated with Bernard-Soulier syndrome, velocardiofacial syndrome and giant platelet disorder. The 206 amino acid precursor of GPIb beta is synthesized from a 1.0 kb mRNA expressed in plateletes and megakaryocytes. A 411 amino acid protein arising from a longer, unspliced transcript in endothelial cells has been described; however, the authenticity of this product has been questioned. Yet another less abundant GPIb beta mRNA species of 3.5 kb, expressed in nonhematopoietic tissues such as endothelium, brain and heart, was shown to result from inefficient usage of a non-consensus polyA signal in the neighboring upstream gene (SEPT5, septin 5). In the absence of polyadenylation from its own imperfect site, the SEPT5 gene produces read-through transcripts that use the consensus polyA signal of this gene. [provided by RefSeq, Dec 2010] Expression Biased expression in brain (RPKM 9.9), skin (RPKM 3.4) and 10 other tissues See more Orthologs mouse all
GP2, Official Symbol GP2provided by HGNC Official Full Name glycoprotein 2provided by HGNC Primary source HGNC:HGNC:4441 See related Ensembl:ENSG00000169347 MIM:602977; AllianceGenome:HGNC:4441 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 ZAP75 Summary This gene encodes an integral membrane protein that is secreted from intracellular zymogen granules and associates with the plasma membrane via glycosylphosphatidylinositol (GPI) linkage. The encoded protein binds pathogens such as enterobacteria, thereby playing an important role in the innate immune response. The C-terminus of this protein is related to the C-terminus of the protein encoded by the neighboring gene, uromodulin (UMOD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015] Expression Restricted expression toward pancreas (RPKM 2558.6) See more Orthologs mouse all
GP5, Official Symbol GP5provided by HGNC Official Full Name glycoprotein V plateletprovided by HGNC Primary source HGNC:HGNC:4443 See related Ensembl:ENSG00000178732 MIM:173511; AllianceGenome:HGNC:4443 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 GPV; CD42d Summary Human platelet glycoprotein V (GP5) is a part of the Ib-V-IX system of surface glycoproteins that constitute the receptor for von Willebrand factor (VWF; MIM 613160) and mediate the adhesion of platelets to injured vascular surfaces in the arterial circulation, a critical initiating event in hemostasis. The main portion of the receptor is a heterodimer composed of 2 polypeptide chains, an alpha chain (GP1BA; MIM 606672) and a beta chain (GP1BB; MIM 138720), that are linked by disulfide bonds. The complete receptor complex includes noncovalent association of the alpha and beta subunits with platelet glycoprotein IX (GP9; MIM 173515) and GP5. Mutations in GP1BA, GP1BB, and GP9 have been shown to cause Bernard-Soulier syndrome (MIM 231200), a bleeding disorder (review by Lopez et al., 1998 [PubMed 9616133]).[supplied by OMIM, Nov 2010] Expression Low expression observed in reference dataset See more Orthologs mouse all
GP6, Official Symbol GP6provided by HGNC Official Full Name glycoprotein VI plateletprovided by HGNC Primary source HGNC:HGNC:14388 See related Ensembl:ENSG00000088053 MIM:605546; AllianceGenome:HGNC:14388 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 GPIV; GPVI; BDPLT11 Summary This gene encodes a platelet membrane glycoprotein of the immunoglobulin superfamily. The encoded protein is a receptor for collagen and plays a critical role in collagen-induced platelet aggregation and thrombus formation. The encoded protein forms a complex with the Fc receptor gamma-chain that initiates the platelet activation signaling cascade upon collagen binding. Mutations in this gene are a cause of platelet-type bleeding disorder-11 (BDPLT11). Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
GP9, Official Symbol GP9provided by HGNC Official Full Name glycoprotein IX plateletprovided by HGNC Primary source HGNC:HGNC:4444 See related Ensembl:ENSG00000169704 MIM:173515; AllianceGenome:HGNC:4444 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 GPIX; CD42a Summary This gene encodes a small membrane glycoprotein found on the surface of human platelets. It forms a 1-to-1 noncovalent complex with glycoprotein Ib, a platelet surface membrane glycoprotein complex that functions as a receptor for von Willebrand factor. The complete receptor complex includes noncovalent association of the alpha and beta subunits with the protein encoded by this gene and platelet glycoprotein V. Defects in this gene are a cause of Bernard-Soulier syndrome, also known as giant platelet disease. These patients have unusually large platelets and have a clinical bleeding tendency. [provided by RefSeq, Oct 2008] Expression Biased expression in bone marrow (RPKM 1.0), spleen (RPKM 0.7) and 4 other tissues See more Orthologs mouse all
GPA33, Official Symbol GPA33provided by HGNC Official Full Name glycoprotein A33provided by HGNC Primary source HGNC:HGNC:4445 See related Ensembl:ENSG00000143167 MIM:602171; AllianceGenome:HGNC:4445 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 A33 Summary The glycoprotein encoded by this gene is a cell surface antigen that is expressed in greater than 95% of human colon cancers. The open reading frame encodes a 319-amino acid polypeptide having a putative secretory signal sequence and 3 potential glycosylation sites. The predicted mature protein has a 213-amino acid extracellular region, a single transmembrane domain, and a 62-amino acid intracellular tail. The sequence of the extracellular region contains 2 domains characteristic of the CD2 subgroup of the immunoglobulin (Ig) superfamily. [provided by RefSeq, Jul 2008] Expression Biased expression in colon (RPKM 108.1), duodenum (RPKM 69.2) and 2 other tissues See more Orthologs mouse all
GPAA1, Official Symbol GPAA1provided by HGNC Official Full Name glycosylphosphatidylinositol anchor attachment 1provided by HGNC Primary source HGNC:HGNC:4446 See related Ensembl:ENSG00000197858 MIM:603048; AllianceGenome:HGNC:4446 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 GAA1; hGAA1; GPIBD15 Summary Posttranslational glycosylphosphatidylinositol (GPI) anchor attachment serves as a general mechanism for linking proteins to the cell surface membrane. The protein encoded by this gene presumably functions in GPI anchoring at the GPI transfer step. The mRNA transcript is ubiquitously expressed in both fetal and adult tissues. The anchor attachment protein 1 contains an N-terminal signal sequence, 1 cAMP- and cGMP-dependent protein kinase phosphorylation site, 1 leucine zipper pattern, 2 potential N-glycosylation sites, and 8 putative transmembrane domains. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 27.5), thyroid (RPKM 25.6) and 25 other tissues See more Orthologs mouse all
GPAA1P1, Official Symbol GPAA1P1provided by HGNC Official Full Name glycosylphosphatidylinositol anchor attachment 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:4447 See related Ensembl:ENSG00000240069 AllianceGenome:HGNC:4447 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GPAA1P2, Official Symbol GPAA1P2provided by HGNC Official Full Name glycosylphosphatidylinositol anchor attachment 1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:51484 See related Ensembl:ENSG00000230596 AllianceGenome:HGNC:51484 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GPALPP1, Official Symbol GPALPP1provided by HGNC Official Full Name GPALPP motifs containing 1provided by HGNC Primary source HGNC:HGNC:20298 See related Ensembl:ENSG00000133114 AllianceGenome:HGNC:20298 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 LSR7; AD029; KIAA1704; bA245H20.2 Expression Ubiquitous expression in endometrium (RPKM 5.8), thyroid (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
GPAM, Official Symbol GPAMprovided by HGNC Official Full Name glycerol-3-phosphate acyltransferase, mitochondrialprovided by HGNC Primary source HGNC:HGNC:24865 See related Ensembl:ENSG00000119927 MIM:602395; AllianceGenome:HGNC:24865 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 GPAT; GPAT1 Summary This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011] Expression Biased expression in fat (RPKM 277.9), liver (RPKM 26.0) and 1 other tissue See more Orthologs mouse all
GPANK1, Official Symbol GPANK1provided by HGNC Official Full Name G-patch domain and ankyrin repeats 1provided by HGNC Primary source HGNC:HGNC:13920 See related Ensembl:ENSG00000204438 MIM:142610; AllianceGenome:HGNC:13920 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 G5; BAT4; D6S54E; ANKRD59; GPATCH10 Summary This gene is located in a cluster of HLA-B-associated transcripts, which is included in the human major histocompatability complex III region. This gene encodes a protein which is thought to play a role in immunity. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in testis (RPKM 11.3), ovary (RPKM 5.1) and 25 other tissues See more Orthologs mouse all
GPAT2, Official Symbol GPAT2provided by HGNC Official Full Name glycerol-3-phosphate acyltransferase 2, mitochondrialprovided by HGNC Primary source HGNC:HGNC:27168 See related Ensembl:ENSG00000186281 MIM:616431; AllianceGenome:HGNC:27168 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 CT123 Summary Enables glycerol-3-phosphate O-acyltransferase activity. Predicted to be involved in several processes, including glycerol-3-phosphate metabolic process; glycerolipid biosynthetic process; and piRNA biosynthetic process. Predicted to be located in mitochondrial outer membrane. Predicted to be active in mitochondrial membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 7.1), spleen (RPKM 3.6) and 22 other tissues See more Orthologs mouse all
GPAT2P1, Official Symbol GPAT2P1provided by HGNC Official Full Name glycerol-3-phosphate acyltransferase 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:52330 See related Ensembl:ENSG00000237510 AllianceGenome:HGNC:52330 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GPAT3, Official Symbol GPAT3provided by HGNC Official Full Name glycerol-3-phosphate acyltransferase 3provided by HGNC Primary source HGNC:HGNC:28157 See related Ensembl:ENSG00000138678 MIM:610958; AllianceGenome:HGNC:28157 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 MAG1; AGPAT8; AGPAT9; AGPAT10; AGPAT 10; HMFN0839; LPAAT-theta Summary This gene encodes a member of the lysophosphatidic acid acyltransferase protein family. The encoded protein is an enzyme which catalyzes the conversion of glycerol-3-phosphate to lysophosphatidic acid in the synthesis of triacylglycerol. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2012] Expression Broad expression in kidney (RPKM 23.1), duodenum (RPKM 10.2) and 14 other tissues See more Orthologs mouse all
GPAT4, Official Symbol GPAT4provided by HGNC Official Full Name glycerol-3-phosphate acyltransferase 4provided by HGNC Primary source HGNC:HGNC:20880 See related Ensembl:ENSG00000158669 MIM:608143; AllianceGenome:HGNC:20880 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 AGPAT6; LPAATZ; TSARG7; 1-AGPAT 6; LPAAT-zeta Summary Lysophosphatidic acid acyltransferases (EC 2.3.1.51) catalyze the conversion of lysophosphatidic acid (LPA) to phosphatidic acid (PA). LPA and PA are involved in signal transduction and lipid biosynthesis.[supplied by OMIM, Apr 2004] Expression Ubiquitous expression in endometrium (RPKM 10.2), adrenal (RPKM 10.1) and 25 other tissues See more Orthologs mouse all
GPATCH1, Official Symbol GPATCH1provided by HGNC Official Full Name G-patch domain containing 1provided by HGNC Primary source HGNC:HGNC:24658 See related Ensembl:ENSG00000076650 AllianceGenome:HGNC:24658 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 ECGP; GPATC1 Summary Predicted to enable RNA binding activity. Predicted to be involved in mRNA splicing, via spliceosome. Part of catalytic step 2 spliceosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in ovary (RPKM 3.8), testis (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
GPATCH11, Official Symbol GPATCH11provided by HGNC Official Full Name G-patch domain containing 11provided by HGNC Primary source HGNC:HGNC:26768 See related Ensembl:ENSG00000152133 AllianceGenome:HGNC:26768 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 CENPY; CCDC75; CENP-Y Summary Predicted to enable nucleic acid binding activity. Located in kinetochore. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 17.4), testis (RPKM 7.9) and 23 other tissues See more Orthologs mouse all
GPATCH2, Official Symbol GPATCH2provided by HGNC Official Full Name G-patch domain containing 2provided by HGNC Primary source HGNC:HGNC:25499 See related Ensembl:ENSG00000092978 MIM:616836; AllianceGenome:HGNC:25499 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 Pfa1; CT110; GPATC2; PPP1R30 Summary The gene encodes a nuclear factor that may play a role in spermatogenesis and in tumor growth during breast cancer. The encoded protein contains a G-patch domain with an RNA binding motif. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017] Expression Ubiquitous expression in testis (RPKM 2.6), thyroid (RPKM 1.9) and 25 other tissues See more Orthologs mouse all
GPATCH2L, Official Symbol GPATCH2Lprovided by HGNC Official Full Name G-patch domain containing 2 likeprovided by HGNC Primary source HGNC:HGNC:20210 See related Ensembl:ENSG00000089916 AllianceGenome:HGNC:20210 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 C14orf118 Expression Ubiquitous expression in bone marrow (RPKM 2.9), testis (RPKM 2.4) and 25 other tissues See more Orthologs mouse all
GPATCH3, Official Symbol GPATCH3provided by HGNC Official Full Name G-patch domain containing 3provided by HGNC Primary source HGNC:HGNC:25720 See related Ensembl:ENSG00000198746 MIM:617486; AllianceGenome:HGNC:25720 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 GPATC3 Summary Predicted to enable nucleic acid binding activity. Involved in negative regulation of RIG-I signaling pathway; negative regulation of type I interferon production; and positive regulation of transcription, DNA-templated. Located in cytosol and nucleoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 7.1), testis (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
GPATCH4, Official Symbol GPATCH4provided by HGNC Official Full Name G-patch domain containing 4 (gene/pseudogene)provided by HGNC Primary source HGNC:HGNC:25982 See related Ensembl:ENSG00000160818 AllianceGenome:HGNC:25982 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 GPATC4 Summary Enables RNA binding activity. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Annotation category: suggests misassembly Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Ubiquitous expression in appendix (RPKM 11.6), brain (RPKM 10.3) and 25 other tissues See more Orthologs mouse all
GPATCH8, Official Symbol GPATCH8provided by HGNC Official Full Name G-patch domain containing 8provided by HGNC Primary source HGNC:HGNC:29066 See related Ensembl:ENSG00000186566 MIM:614396; AllianceGenome:HGNC:29066 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 GPATC8; KIAA0553 Summary The protein encoded by this gene contains an RNA-processing domain, a zinc finger domain, a lysine-rich region and a serine-rich region. A mutation in the serine-rich region of the protein is thought to be associated with hyperuricemia (PMID: 21594610). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Feb 2015] Expression Ubiquitous expression in testis (RPKM 2.5), ovary (RPKM 2.5) and 25 other tissues See more Orthologs mouse all
GPBAR1, Official Symbol GPBAR1provided by HGNC Official Full Name G protein-coupled bile acid receptor 1provided by HGNC Primary source HGNC:HGNC:19680 See related Ensembl:ENSG00000179921 MIM:610147; AllianceGenome:HGNC:19680 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 BG37; TGR5; M-BAR; GPCR19; GPR131 Summary This gene encodes a member of the G protein-coupled receptor (GPCR) superfamily. This enzyme functions as a cell surface receptor for bile acids. Treatment of cells expressing this GPCR with bile acids induces the production of intracellular cAMP, activation of a MAP kinase signaling pathway, and internalization of the receptor. The receptor is implicated in the suppression of macrophage functions and regulation of energy homeostasis by bile acids. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008] Expression Biased expression in gall bladder (RPKM 4.9), fat (RPKM 2.9) and 11 other tissues See more Orthologs mouse all
GPBP1, Official Symbol GPBP1provided by HGNC Official Full Name GC-rich promoter binding protein 1provided by HGNC Primary source HGNC:HGNC:29520 See related Ensembl:ENSG00000062194 MIM:608412; AllianceGenome:HGNC:29520 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 GPBP; SSH6; VASCULIN Summary This gene was originally isolated by subtractive hybridization of cDNAs expressed in atherosclerotic plaques with a thrombus, and was found to be expressed only in vascular smooth muscle cells. However, a shorter splice variant was found to be more ubiquitously expressed. This protein is suggested to play a role in the development of atherosclerosis. Studies in mice suggest that it may also function as a GC-rich promoter-specific trans-activating transcription factor. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Feb 2011] Expression Ubiquitous expression in testis (RPKM 33.9), ovary (RPKM 22.5) and 25 other tissues See more Orthologs mouse all
GPBP1L1, Official Symbol GPBP1L1provided by HGNC Official Full Name GC-rich promoter binding protein 1 like 1provided by HGNC Primary source HGNC:HGNC:28843 See related Ensembl:ENSG00000159592 AllianceGenome:HGNC:28843 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 SP192 Summary Predicted to enable DNA binding activity and RNA binding activity. Predicted to be involved in regulation of transcription, DNA-templated. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 44.4), thyroid (RPKM 35.1) and 25 other tissues See more Orthologs mouse all
GPC1, Official Symbol GPC1provided by HGNC Official Full Name glypican 1provided by HGNC Primary source HGNC:HGNC:4449 See related Ensembl:ENSG00000063660 MIM:600395; AllianceGenome:HGNC:4449 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 glypican Summary Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008] Expression Broad expression in skin (RPKM 51.0), testis (RPKM 21.8) and 19 other tissues See more Orthologs mouse all
GPC2, Official Symbol GPC2provided by HGNC Official Full Name glypican 2provided by HGNC Primary source HGNC:HGNC:4450 See related Ensembl:ENSG00000213420 MIM:618446; AllianceGenome:HGNC:4450 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 several processes, including positive regulation of neuron projection development; regulation of protein localization to membrane; and smoothened signaling pathway. Located in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in testis (RPKM 5.5), skin (RPKM 2.9) and 7 other tissues See more Orthologs mouse all
GPC3, Official Symbol GPC3provided by HGNC Official Full Name glypican 3provided by HGNC Primary source HGNC:HGNC:4451 See related Ensembl:ENSG00000147257 MIM:300037; AllianceGenome:HGNC:4451 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 SGB; DGSX; MXR7; SDYS; SGBS; OCI-5; SGBS1; GTR2-2 Summary Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The protein encoded by this gene can bind to and inhibit the dipeptidyl peptidase activity of CD26, and it can induce apoptosis in certain cell types. Deletion mutations in this gene are associated with Simpson-Golabi-Behmel syndrome, also known as Simpson dysmorphia syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009] Expression Biased expression in placenta (RPKM 205.3), lung (RPKM 44.2) and 3 other tissues See more Orthologs mouse all
GPC3-AS1, Official Symbol GPC3-AS1provided by HGNC Official Full Name GPC3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:52897 See related Ensembl:ENSG00000286096 AllianceGenome:HGNC:52897 Gene type ncRNA RefSeq status PROVISIONAL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
GPC4, Official Symbol GPC4provided by HGNC Official Full Name glypican 4provided by HGNC Primary source HGNC:HGNC:4452 See related Ensembl:ENSG00000076716 MIM:300168; AllianceGenome:HGNC:4452 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 KPTS; K-glypican Summary Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. The GPC4 gene is adjacent to the 3' end of GPC3 and may also play a role in Simpson-Golabi-Behmel syndrome. [provided by RefSeq, Jul 2008] Expression Broad expression in placenta (RPKM 22.5), kidney (RPKM 16.2) and 22 other tissues See more Orthologs mouse all