psui3905/ncbi_genes_summary huggingface dataset:
SLC45A3, Official Symbol SLC45A3provided by HGNC Official Full Name solute carrier family 45 member 3provided by HGNC Primary source HGNC:HGNC:8642 See related Ensembl:ENSG00000158715 MIM:605097; AllianceGenome:HGNC:8642 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 PRST; IPCA6; IPCA-2; IPCA-6; IPCA-8; PCANAP2; PCANAP6; PCANAP8 Summary Predicted to enable sucrose:proton symporter activity. Predicted to be involved in positive regulation of small molecule metabolic process; regulation of oligodendrocyte differentiation; and sucrose transport. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in prostate (RPKM 193.8) and stomach (RPKM 8.4) See more Orthologs mouse all
SLC45A4, Official Symbol SLC45A4provided by HGNC Official Full Name solute carrier family 45 member 4provided by HGNC Primary source HGNC:HGNC:29196 See related Ensembl:ENSG00000022567 MIM:619581; AllianceGenome:HGNC:29196 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 sucrose:proton symporter activity. Predicted to be involved in sucrose transport. Predicted to be integral component of membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 5.0), stomach (RPKM 3.0) and 24 other tissues See more Orthologs mouse all
SLC46A1, Official Symbol SLC46A1provided by HGNC Official Full Name solute carrier family 46 member 1provided by HGNC Primary source HGNC:HGNC:30521 See related Ensembl:ENSG00000076351 MIM:611672; AllianceGenome:HGNC:30521 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 G21; HCP1; PCFT; hPCFT; HsPCFT Summary This gene encodes a transmembrane proton-coupled folate transporter protein that facilitates the movement of folate and antifolate substrates across cell membranes, optimally in acidic pH environments. This protein is also expressed in the brain and choroid plexus where it transports folates into the central nervous system. This protein further functions as a heme transporter in duodenal enterocytes, and potentially in other tissues like liver and kidney. Its localization to the apical membrane or cytoplasm of intestinal cells is modulated by dietary iron levels. Mutations in this gene are associated with autosomal recessive hereditary folate malabsorption disease. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2013] Expression Ubiquitous expression in duodenum (RPKM 45.1), small intestine (RPKM 21.0) and 22 other tissues See more Orthologs mouse all
SLC46A2, Official Symbol SLC46A2provided by HGNC Official Full Name solute carrier family 46 member 2provided by HGNC Primary source HGNC:HGNC:16055 See related Ensembl:ENSG00000119457 MIM:608956; AllianceGenome:HGNC:16055 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 Ly110; TSCOT Summary Predicted to enable transmembrane transporter activity. Involved in positive regulation of nucleotide-binding activity oligomerization domain containing 1 signaling pathway. Predicted to be located in cell surface and plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in lung (RPKM 9.2), skin (RPKM 5.1) and 6 other tissues See more Orthologs mouse all
SLC46A3, Official Symbol SLC46A3provided by HGNC Official Full Name solute carrier family 46 member 3provided by HGNC Primary source HGNC:HGNC:27501 See related Ensembl:ENSG00000139508 MIM:616764; AllianceGenome:HGNC:27501 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 FKSG16 Summary The protein encoded by this gene is a member of a transmembrane protein family that transports small molecules across membranes. The encoded protein has been found in lysosomal membranes, where it can transport catabolites from the lysosomes to the cytoplasm. This protein has been shown to be an effective transporter of the cytotoxic drug maytansine, which is used in antibody-based targeting of cancer cells. [provided by RefSeq, Dec 2016] Expression Broad expression in small intestine (RPKM 41.0), duodenum (RPKM 24.5) and 21 other tissues See more Orthologs mouse all
SLC47A1, Official Symbol SLC47A1provided by HGNC Official Full Name solute carrier family 47 member 1provided by HGNC Primary source HGNC:HGNC:25588 See related Ensembl:ENSG00000142494 MIM:609832; AllianceGenome:HGNC:25588 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 MATE1 Summary This gene is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 59.0), kidney (RPKM 50.0) and 6 other tissues See more Orthologs all
SLC47A1P1, Official Symbol SLC47A1P1provided by HGNC Official Full Name SLC47A1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51849 See related Ensembl:ENSG00000290454 AllianceGenome:HGNC:51849 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SLC47A2, Official Symbol SLC47A2provided by HGNC Official Full Name solute carrier family 47 member 2provided by HGNC Primary source HGNC:HGNC:26439 See related Ensembl:ENSG00000180638 MIM:609833; AllianceGenome:HGNC:26439 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 MATE2; MATE2K; MATE2-B; MATE2-K Summary This gene encodes a protein belonging to a family of transporters involved in excretion of toxic electrolytes, both endogenous and exogenous, through urine and bile. This transporter family shares homology with the bacterial MATE (multidrug and toxin extrusion) protein family responsible for drug resistance. This gene is one of two members of the MATE transporter family located near each other on chromosome 17. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Restricted expression toward kidney (RPKM 17.1) See more Orthologs all
SLC48A1, Official Symbol SLC48A1provided by HGNC Official Full Name solute carrier family 48 member 1provided by HGNC Primary source HGNC:HGNC:26035 See related Ensembl:ENSG00000211584 MIM:612187; AllianceGenome:HGNC:26035 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 HRG; HRG1; HRG-1; hHRG-1 Summary Enables heme binding activity and heme transmembrane transporter activity. Involved in heme transport. Located in endosome membrane; lysosomal membrane; and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in brain (RPKM 18.5), thyroid (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
SLC49A3, Official Symbol SLC49A3provided by HGNC Official Full Name solute carrier family 49 member 3provided by HGNC Primary source HGNC:HGNC:26177 See related Ensembl:ENSG00000169026 MIM:620318; AllianceGenome:HGNC:26177 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 MFSD7; LP2561 Summary Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 3.9), lung (RPKM 2.5) and 25 other tissues See more Orthologs mouse all
SLC49A4, Official Symbol SLC49A4provided by HGNC Official Full Name solute carrier family 49 member 4provided by HGNC Primary source HGNC:HGNC:16628 See related Ensembl:ENSG00000138463 MIM:602773; AllianceGenome:HGNC:16628 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 RCC4; DIRC2 Summary This gene encodes a membrane-bound protein from the major facilitator superfamily of transporters. Disruption of this gene by translocation has been associated with haplo-insufficiency and renal cell carcinomas. Alternatively spliced transcript variants have been described, but their biological validity has not yet been determined. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 3.9), placenta (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
SLC4A1, Official Symbol SLC4A1provided by HGNC Official Full Name solute carrier family 4 member 1 (Diego blood group)provided by HGNC Primary source HGNC:HGNC:11027 See related Ensembl:ENSG00000004939 MIM:109270; AllianceGenome:HGNC:11027 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 DI; FR; SW; WD; WR; AE1; CHC; SAO; WD1; BND3; EPB3; SPH4; CD233; EMPB3; RTA1A Summary The protein encoded by this gene is part of the anion exchanger (AE) family and is expressed in the erythrocyte plasma membrane, where it functions as a chloride/bicarbonate exchanger involved in carbon dioxide transport from tissues to lungs. The protein comprises two domains that are structurally and functionally distinct. The N-terminal 40kDa domain is located in the cytoplasm and acts as an attachment site for the red cell skeleton by binding ankyrin. The glycosylated C-terminal membrane-associated domain contains 12-14 membrane spanning segments and carries out the stilbene disulphonate-sensitive exchange transport of anions. The cytoplasmic tail at the extreme C-terminus of the membrane domain binds carbonic anhydrase II. The encoded protein associates with the red cell membrane protein glycophorin A and this association promotes the correct folding and translocation of the exchanger. This protein is predominantly dimeric but forms tetramers in the presence of ankyrin. Many mutations in this gene are known in man, and these mutations can lead to two types of disease: destabilization of red cell membrane leading to hereditary spherocytosis, and defective kidney acid secretion leading to distal renal tubular acidosis. Other mutations that do not give rise to disease result in novel blood group antigens, which form the Diego blood group system. Southeast Asian ovalocytosis (SAO, Melanesian ovalocytosis) results from the heterozygous presence of a deletion in the encoded protein and is common in areas where Plasmodium falciparum malaria is endemic. One null mutation in this gene is known, resulting in very severe anemia and nephrocalcinosis. [provided by RefSeq, Jul 2008] Expression Restricted expression toward bone marrow (RPKM 157.0) See more Orthologs mouse all
SLC4A10, Official Symbol SLC4A10provided by HGNC Official Full Name solute carrier family 4 member 10provided by HGNC Primary source HGNC:HGNC:13811 See related Ensembl:ENSG00000144290 MIM:605556; AllianceGenome:HGNC:13811 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 NCBE; NBCn2 Summary This gene belongs to a small family of sodium-coupled bicarbonate transporters (NCBTs) that regulate the intracellular pH of neurons, the secretion of bicarbonate ions across the choroid plexus, and the pH of the brain extracellular fluid. The protein encoded by this gene was initially identified as a sodium-driven chloride bicarbonate exchanger (NCBE) though there is now evidence that its sodium/bicarbonate cotransport activity is independent of any chloride ion countertransport under physiological conditions. This gene is now classified as a member A10 of the SLC4 family of transmembrane solute carriers. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, May 2010] Expression Biased expression in brain (RPKM 21.0) and adrenal (RPKM 1.0) See more Orthologs mouse all
SLC4A11, Official Symbol SLC4A11provided by HGNC Official Full Name solute carrier family 4 member 11provided by HGNC Primary source HGNC:HGNC:16438 See related Ensembl:ENSG00000088836 MIM:610206; AllianceGenome:HGNC:16438 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 BTR1; CHED; CDPD1; CHED2; NABC1; dJ794I6.2 Summary This gene encodes a voltage-regulated, electrogenic sodium-coupled borate cotransporter that is essential for borate homeostasis, cell growth and cell proliferation. Mutations in this gene have been associated with a number of endothelial corneal dystrophies including recessive corneal endothelial dystrophy 2, corneal dystrophy and perceptive deafness, and Fuchs endothelial corneal dystrophy. Multiple transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2010] Expression Biased expression in thyroid (RPKM 6.2), kidney (RPKM 5.1) and 12 other tissues See more Orthologs mouse all
SLC4A1AP, Official Symbol SLC4A1APprovided by HGNC Official Full Name solute carrier family 4 member 1 adaptor proteinprovided by HGNC Primary source HGNC:HGNC:13813 See related Ensembl:ENSG00000163798 MIM:602655; AllianceGenome:HGNC:13813 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 HLC3 Summary Predicted to enable mRNA binding activity. Located in nucleoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 21.2), brain (RPKM 14.7) and 25 other tissues See more Orthologs mouse all
SLC4A1APP2, Official Symbol SLC4A1APP2provided by HGNC Official Full Name solute carrier family 4 member 1 adaptor protein pseudogene 2provided by HGNC Primary source HGNC:HGNC:49812 See related Ensembl:ENSG00000236401 AllianceGenome:HGNC:49812 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SLC4A2, Official Symbol SLC4A2provided by HGNC Official Full Name solute carrier family 4 member 2provided by HGNC Primary source HGNC:HGNC:11028 See related Ensembl:ENSG00000164889 MIM:109280; AllianceGenome:HGNC:11028 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 AE2; HKB3; BND3L; NBND3; OPTB9; EPB3L1 Summary This gene encodes a member of the anion exchanger family of membrane transport proteins. The encoded protein regulates intracellular pH, biliary bicarbonate secretion, and chloride uptake. Reduced expression of this gene may be associated with primary biliary cirrhosis (PBC) in human patients, while differential expression of this gene may be associated with malignant hepatocellular carcinoma, colon and gastric cancers. [provided by RefSeq, Nov 2016] Expression Ubiquitous expression in placenta (RPKM 16.3), stomach (RPKM 13.8) and 25 other tissues See more Orthologs mouse all
SLC4A3, Official Symbol SLC4A3provided by HGNC Official Full Name solute carrier family 4 member 3provided by HGNC Primary source HGNC:HGNC:11029 See related Ensembl:ENSG00000114923 MIM:106195; AllianceGenome:HGNC:11029 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 AE3; SQT7; SLC2C; CAE3/BAE3 Summary The protein encoded by this gene is a plasma membrane anion exchange protein. The encoded protein has been found in brain, heart, kidney, small intestine, and lung. [provided by RefSeq, May 2016] Expression Biased expression in heart (RPKM 53.3), ovary (RPKM 25.3) and 5 other tissues See more Orthologs mouse all
SLC4A4, Official Symbol SLC4A4provided by HGNC Official Full Name solute carrier family 4 member 4provided by HGNC Primary source HGNC:HGNC:11030 See related Ensembl:ENSG00000080493 MIM:603345; AllianceGenome:HGNC:11030 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 KNBC; NBC1; NBC2; pNBC; HNBC1; NBCe1; hhNMC; kNBC1; SLC4A5; NBCe1-A Summary This gene encodes a sodium bicarbonate cotransporter (NBC) involved in the regulation of bicarbonate secretion and absorption and intracellular pH. Mutations in this gene are associated with proximal renal tubular acidosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] Expression Biased expression in kidney (RPKM 56.0), pancreas (RPKM 31.5) and 12 other tissues See more Orthologs mouse all
SLC4A5, Official Symbol SLC4A5provided by HGNC Official Full Name solute carrier family 4 member 5provided by HGNC Primary source HGNC:HGNC:18168 See related Ensembl:ENSG00000188687 MIM:606757; AllianceGenome:HGNC:18168 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 NBC4; NBCe2 Summary This gene encodes a member of the sodium bicarbonate cotransporter (NBC) family, part of the bicarbonate transporter superfamily. Sodium bicarbonate cotransporters are involved in intracellular pH regulation and electroneural or electrogenic sodium bicarbonate transport. This protein is thought to be an integral membrane protein. Multiple transcript variants encoding different isoforms have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008] Expression Broad expression in thyroid (RPKM 9.5), testis (RPKM 8.1) and 14 other tissues See more Orthologs mouse all
SLC4A7, Official Symbol SLC4A7provided by HGNC Official Full Name solute carrier family 4 member 7provided by HGNC Primary source HGNC:HGNC:11033 See related Ensembl:ENSG00000033867 MIM:603353; AllianceGenome:HGNC:11033 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 NBC2; NBC3; SBC2; NBCN1; SLC4A6 Summary This locus encodes a sodium bicarbonate cotransporter. The encoded transmembrane protein appears to transport sodium and bicarbonate ions in a 1:1 ratio, and is thus considered an electroneutral cotransporter. The encoded protein likely plays a critical role in regulation of intracellular pH involved in visual and auditory sensory transmission. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012] Expression Ubiquitous expression in duodenum (RPKM 27.5), small intestine (RPKM 8.8) and 20 other tissues See more Orthologs mouse all
SLC4A8, Official Symbol SLC4A8provided by HGNC Official Full Name solute carrier family 4 member 8provided by HGNC Primary source HGNC:HGNC:11034 See related Ensembl:ENSG00000050438 MIM:605024; AllianceGenome:HGNC:11034 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 NBC3; NDCBE Summary The protein encoded by this gene is a membrane protein that functions to transport sodium and bicarbonate ions across the cell membrane. The encoded protein is important for pH regulation in neurons. The activity of this protein can be inhibited by 4,4'-Di-isothiocyanatostilbene-2,2'-disulfonic acid (DIDS). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Biased expression in testis (RPKM 5.0), brain (RPKM 4.6) and 9 other tissues See more Orthologs mouse all
SLC4A9, Official Symbol SLC4A9provided by HGNC Official Full Name solute carrier family 4 member 9provided by HGNC Primary source HGNC:HGNC:11035 See related Ensembl:ENSG00000113073 MIM:610207; AllianceGenome:HGNC:11035 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 AE4 Summary The protein encoded by this gene is a membrane protein involved in anion exchange. Expression of this gene is mostly limited to the kidney. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] Expression Biased expression in kidney (RPKM 5.2) and testis (RPKM 0.2) See more Orthologs mouse all
SLC50A1, Official Symbol SLC50A1provided by HGNC Official Full Name solute carrier family 50 member 1provided by HGNC Primary source HGNC:HGNC:30657 See related Ensembl:ENSG00000169241 MIM:613683; AllianceGenome:HGNC:30657 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 SCP; slv; SWEET1; RAG1AP1; HsSWEET1 Summary Enables glucoside transmembrane transporter activity. Predicted to be involved in carbohydrate transport. Located in Golgi apparatus and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 17.3), stomach (RPKM 15.0) and 25 other tissues See more Orthologs mouse all
SLC51A, Official Symbol SLC51Aprovided by HGNC Official Full Name solute carrier family 51 subunit alphaprovided by HGNC Primary source HGNC:HGNC:29955 See related Ensembl:ENSG00000163959 MIM:612084; AllianceGenome:HGNC:29955 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 OSTA; PFIC6; OSTalpha Summary Predicted to enable protein heterodimerization activity; protein homodimerization activity; and transmembrane transporter activity. Involved in bile acid secretion. Located in basolateral plasma membrane. Implicated in progressive familial intrahepatic cholestasis. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in small intestine (RPKM 36.5), liver (RPKM 24.2) and 6 other tissues See more Orthologs mouse all
SLC51B, Official Symbol SLC51Bprovided by HGNC Official Full Name solute carrier family 51 subunit betaprovided by HGNC Primary source HGNC:HGNC:29956 See related Ensembl:ENSG00000186198 MIM:612085; AllianceGenome:HGNC:29956 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 OSTB; PBAM2; OSTBETA Summary Predicted to enable protein heterodimerization activity and transmembrane transporter activity. Involved in bile acid secretion. Located in basolateral plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in small intestine (RPKM 39.7), duodenum (RPKM 31.2) and 4 other tissues See more Orthologs mouse all
SLC52A1, Official Symbol SLC52A1provided by HGNC Official Full Name solute carrier family 52 member 1provided by HGNC Primary source HGNC:HGNC:30225 See related Ensembl:ENSG00000132517 MIM:607883; AllianceGenome:HGNC:30225 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 PAR2; RFT1; RBFVD; RFVT1; hRFT1; GPCR42; GPR172B; huPAR-2 Summary Biological redox reactions require electron donors and acceptor. Vitamin B2 is the source for the flavin in flavin adenine dinucleotide (FAD) and flavin mononucleotide (FMN) which are common redox reagents. This gene encodes a member of the riboflavin (vitamin B2) transporter family. Haploinsufficiency of this protein can cause maternal riboflavin deficiency. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2013] Expression Biased expression in duodenum (RPKM 20.9), placenta (RPKM 16.1) and 2 other tissues See more Orthologs all
SLC52A2, Official Symbol SLC52A2provided by HGNC Official Full Name solute carrier family 52 member 2provided by HGNC Primary source HGNC:HGNC:30224 See related Ensembl:ENSG00000185803 MIM:607882; AllianceGenome:HGNC:30224 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 PAR1; RFT3; RFVT2; hRFT3; BVVLS2; GPCR41; GPR172A; HuPAR-1; D15Ertd747e Summary This gene encodes a membrane protein which belongs to the riboflavin transporter family. In humans, riboflavin must be obtained by intestinal absorption because it cannot be synthesized by the body. The water-soluble vitamin riboflavin is processed to the coenzymes flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) which then act as intermediaries in many cellular metabolic reactions. Paralogous members of the riboflavin transporter gene family are located on chromosomes 17 and 20. Unlike other members of this family, this gene has higher expression in brain tissue than small intestine. Alternative splicing of this gene results in multiple transcript variants encoding the same protein. Mutations in this gene have been associated with Brown-Vialetto-Van Laere syndrome 2 - an autosomal recessive progressive neurologic disorder characterized by deafness, bulbar dysfunction, and axial and limb hypotonia. [provided by RefSeq, Jul 2012] Expression Ubiquitous expression in colon (RPKM 10.9), stomach (RPKM 8.5) and 25 other tissues See more Orthologs mouse all
SLC52A3, Official Symbol SLC52A3provided by HGNC Official Full Name solute carrier family 52 member 3provided by HGNC Primary source HGNC:HGNC:16187 See related Ensembl:ENSG00000101276 MIM:613350; AllianceGenome:HGNC:16187 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 RFT2; BVVLS; RFVT3; hRFT2; BVVLS1; C20orf54; bA371L19.1 Summary This gene encodes a riboflavin transporter protein that is strongly expressed in the intestine and likely plays a role in intestinal absorption of riboflavin. The protein is predicted to have eleven transmembrane domains and a cell surface localization signal in the C-terminus. Mutations at this locus have been associated with Brown-Vialetto-Van Laere syndrome and Fazio-Londe disease. [provided by RefSeq, Mar 2012] Expression Biased expression in testis (RPKM 24.2), small intestine (RPKM 7.2) and 7 other tissues See more Orthologs mouse all
SLC5A1, Official Symbol SLC5A1provided by HGNC Official Full Name solute carrier family 5 member 1provided by HGNC Primary source HGNC:HGNC:11036 See related Ensembl:ENSG00000100170 MIM:182380; AllianceGenome:HGNC:11036 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 NAGT; SGLT1; SGLT-1; D22S675 Summary This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] Expression Biased expression in duodenum (RPKM 262.7), small intestine (RPKM 154.2) and 1 other tissue See more Orthologs mouse all
SLC5A10, Official Symbol SLC5A10provided by HGNC Official Full Name solute carrier family 5 member 10provided by HGNC Primary source HGNC:HGNC:23155 See related Ensembl:ENSG00000154025 MIM:618636; AllianceGenome:HGNC:23155 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 SGLT5; SGLT-5 Summary This gene is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012] Expression Biased expression in kidney (RPKM 27.8), skin (RPKM 6.0) and 1 other tissue See more Orthologs mouse all
SLC5A11, Official Symbol SLC5A11provided by HGNC Official Full Name solute carrier family 5 member 11provided by HGNC Primary source HGNC:HGNC:23091 See related Ensembl:ENSG00000158865 MIM:610238; AllianceGenome:HGNC:23091 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 KST1; RKST1; SGLT6; SMIT2 Summary Cotransporters, such as SLC5A11, represent a major class of proteins that make use of ion gradients to drive active transport for the cellular accumulation of nutrients, neurotransmitters, osmolytes, and ions Roll et al. (2002) [PubMed 12039040].[supplied by OMIM, Mar 2008] Expression Biased expression in small intestine (RPKM 3.6), brain (RPKM 1.7) and 2 other tissues See more Orthologs mouse all
SLC5A12, Official Symbol SLC5A12provided by HGNC Official Full Name solute carrier family 5 member 12provided by HGNC Primary source HGNC:HGNC:28750 See related Ensembl:ENSG00000148942 MIM:612455; AllianceGenome:HGNC:28750 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 SMCT2 Summary Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008] Expression Restricted expression toward kidney (RPKM 72.2) See more Orthologs mouse all
SLC5A2, Official Symbol SLC5A2provided by HGNC Official Full Name solute carrier family 5 member 2provided by HGNC Primary source HGNC:HGNC:11037 See related Ensembl:ENSG00000140675 MIM:182381; AllianceGenome:HGNC:11037 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 SGLT2 Summary This gene encodes a member of the sodium glucose cotransporter family which are sodium-dependent glucose transport proteins. The encoded protein is the major cotransporter involved in glucose reabsorption in the kidney. Mutations in this gene are associated with renal glucosuria. Two transcript variants, one protein-coding and one not, have been found for this gene. [provided by RefSeq, Feb 2015] Expression Broad expression in kidney (RPKM 31.7), ovary (RPKM 7.6) and 25 other tissues See more Orthologs mouse all
SLC5A3, Official Symbol SLC5A3provided by HGNC Official Full Name solute carrier family 5 member 3provided by HGNC Primary source HGNC:HGNC:11038 See related Ensembl:ENSG00000198743 MIM:600444; AllianceGenome:HGNC:11038 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 BCW2; SMIT; SMIT1; SMIT2 Summary Enables potassium channel regulator activity and transmembrane transporter binding activity. Predicted to be involved in inositol metabolic process; monosaccharide transmembrane transport; and myo-inositol import across plasma membrane. Predicted to act upstream of or within several processes, including peripheral nervous system development; positive regulation of reactive oxygen species biosynthetic process; and regulation of respiratory gaseous exchange. Located in plasma membrane. Part of perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 12.8), thyroid (RPKM 10.4) and 21 other tissues See more Orthologs mouse all
SLC5A4, Official Symbol SLC5A4provided by HGNC Official Full Name solute carrier family 5 member 4provided by HGNC Primary source HGNC:HGNC:11039 See related Ensembl:ENSG00000100191 MIM:618633; AllianceGenome:HGNC:11039 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 SAAT1; SGLT3; DJ90G24.4 Summary Predicted to enable glucose:sodium symporter activity and proton transmembrane transporter activity. Predicted to be involved in sodium ion transport. Predicted to act upstream of or within proton transmembrane transport. Predicted to be active in plasma membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in small intestine (RPKM 7.8), duodenum (RPKM 6.8) and 3 other tissues See more Orthologs all
SLC5A4-AS1, Official Symbol SLC5A4-AS1provided by HGNC Official Full Name SLC5A4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:53163 See related Ensembl:ENSG00000242082 AllianceGenome:HGNC:53163 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SLC5A4P1, Official Symbol SLC5A4P1provided by HGNC Official Full Name solute carrier family 5 member 4 pseudogene 1provided by HGNC Primary source HGNC:HGNC:45041 See related Ensembl:ENSG00000255116 AllianceGenome:HGNC:45041 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
SLC5A5, Official Symbol SLC5A5provided by HGNC Official Full Name solute carrier family 5 member 5provided by HGNC Primary source HGNC:HGNC:11040 See related Ensembl:ENSG00000105641 MIM:601843; AllianceGenome:HGNC:11040 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 NIS; TDH1 Summary This gene encodes a member of the sodium glucose cotransporter family. The encoded protein is responsible for the uptake of iodine in tissues such as the thyroid and lactating breast tissue. The iodine taken up by the thyroid is incorporated into the metabolic regulators triiodothyronine (T3) and tetraiodothyronine (T4). Mutations in this gene are associated with thyroid dyshormonogenesis 1.[provided by RefSeq, Sep 2009] Expression Biased expression in stomach (RPKM 21.5), salivary gland (RPKM 11.5) and 1 other tissue See more Orthologs mouse all
SLC5A6, Official Symbol SLC5A6provided by HGNC Official Full Name solute carrier family 5 member 6provided by HGNC Primary source HGNC:HGNC:11041 See related Ensembl:ENSG00000138074 MIM:604024; AllianceGenome:HGNC:11041 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 SMVT; COMNB; NERIB; SMVTD Summary Enables biotin transmembrane transporter activity and pantothenate transmembrane transporter activity. Involved in anion transmembrane transport and transport across blood-brain barrier. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 17.5), testis (RPKM 16.1) and 24 other tissues See more Orthologs mouse all
SLC5A7, Official Symbol SLC5A7provided by HGNC Official Full Name solute carrier family 5 member 7provided by HGNC Primary source HGNC:HGNC:14025 See related Ensembl:ENSG00000115665 MIM:608761; AllianceGenome:HGNC:14025 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 CHT; CHT1; CMS20; HMN7A; DHMNVP Summary This gene encodes a sodium ion- and chloride ion-dependent high-affinity transporter that mediates choline uptake for acetylcholine synthesis in cholinergic neurons. The protein transports choline from the extracellular space into presynaptic terminals for synthesis into acetylcholine. Increased choline uptake results from increased density of this protein in synaptosomal plasma membranes in response to depolarization of cholinergic terminals. Dysfunction of cholinergic signaling has been implicated in various disorders including depression, attention-deficit disorder, and schizophrenia. An allelic variant of this gene is associated with autosomal dominant distal hereditary motor neuronopathy type VIIA. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015] Expression Low expression observed in reference dataset See more Orthologs mouse all
SLC5A8, Official Symbol SLC5A8provided by HGNC Official Full Name solute carrier family 5 member 8provided by HGNC Primary source HGNC:HGNC:19119 See related Ensembl:ENSG00000256870 MIM:608044; AllianceGenome:HGNC:19119 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 AIT; SMCT; SMCT1 Summary SLC5A8 has been shown to transport iodide by a passive mechanism (Rodriguez et al., 2002 [PubMed 12107270]) and monocarboxylates and short-chain fatty acids by a sodium-coupled mechanism (Gopal et al., 2004 [PubMed 15322102]). In kidney, SLC5A8 functions as a high-affinity sodium-coupled lactate transporter involved in reabsorption of lactate and maintenance of blood lactate levels (Thangaraju et al., 2006 [PubMed 16873376]).[supplied by OMIM, Dec 2008] Expression Biased expression in thyroid (RPKM 19.8), kidney (RPKM 2.8) and 1 other tissue See more Orthologs mouse all
SLC5A9, Official Symbol SLC5A9provided by HGNC Official Full Name solute carrier family 5 member 9provided by HGNC Primary source HGNC:HGNC:22146 See related Ensembl:ENSG00000117834 MIM:620216; AllianceGenome:HGNC:22146 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 SGLT4 Summary Predicted to enable glucose:sodium symporter activity. Predicted to be involved in sodium ion transport. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in duodenum (RPKM 15.3), small intestine (RPKM 14.5) and 4 other tissues See more Orthologs mouse all
SLC66A1, Official Symbol SLC66A1provided by HGNC Official Full Name solute carrier family 66 member 1provided by HGNC Primary source HGNC:HGNC:26001 See related Ensembl:ENSG00000040487 MIM:614760; AllianceGenome:HGNC:26001 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 LAAT1; PQLC2; LAAT-1 Summary Enables L-arginine transmembrane transporter activity and L-lysine transmembrane transporter activity. Involved in L-arginine transmembrane transport; amino acid homeostasis; and lysine transport. Located in lysosomal membrane. Is integral component of organelle membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 2.3), adrenal (RPKM 1.8) and 25 other tissues See more Orthologs mouse all
SLC66A1L, Official Symbol SLC66A1Lprovided by HGNC Official Full Name solute carrier family 66 member 1 like (pseudogene)provided by HGNC Primary source HGNC:HGNC:25146 See related Ensembl:ENSG00000174899 AllianceGenome:HGNC:25146 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PQLC2L; C3orf55; SLC66A2L Summary Predicted to enable L-arginine transmembrane transporter activity and L-lysine transmembrane transporter activity. Predicted to be involved in L-arginine transmembrane transport and L-lysine transmembrane transport. Predicted to be active in lysosomal membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in fat (RPKM 5.2), thyroid (RPKM 2.0) and 4 other tissues See more Orthologs all
SLC66A2, Official Symbol SLC66A2provided by HGNC Official Full Name solute carrier family 66 member 2provided by HGNC Primary source HGNC:HGNC:26188 See related Ensembl:ENSG00000122490 AllianceGenome:HGNC:26188 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 PQLC1 Summary Predicted to be involved in phospholipid translocation and retrograde transport, endosome to Golgi. Predicted to be located in cytosol. Predicted to be integral component of membrane. Predicted to be active in endosome and trans-Golgi network. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in fat (RPKM 15.1), testis (RPKM 10.4) and 25 other tissues See more Orthologs mouse all
SLC66A3, Official Symbol SLC66A3provided by HGNC Official Full Name solute carrier family 66 member 3provided by HGNC Primary source HGNC:HGNC:28503 See related Ensembl:ENSG00000162976 AllianceGenome:HGNC:28503 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 PQLC3; C2orf22 Summary Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 9.0), gall bladder (RPKM 7.5) and 25 other tissues See more Orthologs mouse all
SLC6A1, Official Symbol SLC6A1provided by HGNC Official Full Name solute carrier family 6 member 1provided by HGNC Primary source HGNC:HGNC:11042 See related Ensembl:ENSG00000157103 MIM:137165; AllianceGenome:HGNC:11042 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 MAE; GAT1; GABATR; hGAT-1; GABATHG Summary The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017] Expression Biased expression in brain (RPKM 26.6), liver (RPKM 15.1) and 2 other tissues See more Orthologs mouse all
SLC6A1-AS1, Official Symbol SLC6A1-AS1provided by HGNC Official Full Name SLC6A1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40546 See related Ensembl:ENSG00000232287 AllianceGenome:HGNC:40546 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