psui3905/ncbi_genes_summary huggingface dataset:
SLC36A1, Official Symbol SLC36A1provided by HGNC Official Full Name solute carrier family 36 member 1provided by HGNC Primary source HGNC:HGNC:18761 See related Ensembl:ENSG00000123643 MIM:606561; AllianceGenome:HGNC:18761 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as Dct1; PAT1; LYAAT1; TRAMD3 Summary This gene encodes a member of the eukaryote-specific amino acid/auxin permease (AAAP) 1 transporter family. The encoded protein functions as a proton-dependent, small amino acid transporter. This gene is clustered with related family members on chromosome 5q33.1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015] Expression Broad expression in duodenum (RPKM 7.4), small intestine (RPKM 6.6) and 20 other tissues See more Orthologs all
SLC36A2, Official Symbol SLC36A2provided by HGNC Official Full Name solute carrier family 36 member 2provided by HGNC Primary source HGNC:HGNC:18762 See related Ensembl:ENSG00000186335 MIM:608331; AllianceGenome:HGNC:18762 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 PAT2; TRAMD1 Summary This gene encodes a pH-dependent proton-coupled amino acid transporter that belongs to the amino acid auxin permease 1 protein family. The encoded protein primarily transports small amino acids such as glycine, alanine and proline. Mutations in this gene are associated with iminoglycinuria and hyperglycinuria. [provided by RefSeq, Sep 2010] Expression Restricted expression toward kidney (RPKM 31.7) See more Orthologs mouse all
SLC36A3, Official Symbol SLC36A3provided by HGNC Official Full Name solute carrier family 36 member 3provided by HGNC Primary source HGNC:HGNC:19659 See related Ensembl:ENSG00000186334 MIM:608332; AllianceGenome:HGNC:19659 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 PAT3; TRAMD2; tramdorin2 Summary Predicted to enable amino acid transmembrane transporter activity. Predicted to be involved in amino acid transport and proton transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 4.0) See more Orthologs mouse all
SLC36A4, Official Symbol SLC36A4provided by HGNC Official Full Name solute carrier family 36 member 4provided by HGNC Primary source HGNC:HGNC:19660 See related Ensembl:ENSG00000180773 MIM:613760; AllianceGenome:HGNC:19660 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 PAT4 Summary SLC36A4 belongs to the SLC36 family of amino acid transporters based on sequence similarity with other family members (e.g., SLC36A1; MIM 606561). SLC36 proteins contain about 500 amino acids and have 9 to 11 transmembrane domains. Unlike other SLC36 family members, which are proton-coupled amino acid transporters, SLC36A4 is a high-affinity/low-capacity non-proton-coupled amino acid transporter (Pillai and Meredith, 2011 [PubMed 21097500]).[supplied by OMIM, Feb 2011] Expression Ubiquitous expression in brain (RPKM 3.7), bone marrow (RPKM 3.3) and 25 other tissues See more Orthologs mouse all
SLC37A1, Official Symbol SLC37A1provided by HGNC Official Full Name solute carrier family 37 member 1provided by HGNC Primary source HGNC:HGNC:11024 See related Ensembl:ENSG00000160190 MIM:608094; AllianceGenome:HGNC:11024 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 G3PP; SPX1 Summary The protein encoded by this gene localizes to the endoplasmic reticulum (ER) membrane. This protein translocates glucose-6-phosphate from the cytoplasm into the lumen of the ER for hydrolysis into glucose by another ER membrane protein. This gene is a member of the solute carrier 37 gene family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] Expression Broad expression in duodenum (RPKM 9.6), small intestine (RPKM 8.6) and 23 other tissues See more Orthologs mouse all
SLC37A2, Official Symbol SLC37A2provided by HGNC Official Full Name solute carrier family 37 member 2provided by HGNC Primary source HGNC:HGNC:20644 See related Ensembl:ENSG00000134955 MIM:619136; AllianceGenome:HGNC:20644 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 SPX2; pp11662 Summary Enables glucose 6-phosphate:inorganic phosphate antiporter activity. Involved in glucose-6-phosphate transport and phosphate ion transmembrane transport. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in adrenal (RPKM 13.0), salivary gland (RPKM 12.4) and 18 other tissues See more Orthologs mouse all
SLC37A3, Official Symbol SLC37A3provided by HGNC Official Full Name solute carrier family 37 member 3provided by HGNC Primary source HGNC:HGNC:20651 See related Ensembl:ENSG00000157800 MIM:619137; AllianceGenome:HGNC:20651 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 SPX3 Summary Predicted to enable transmembrane transporter activity. Predicted to be involved in carbohydrate transport and transmembrane transport. Is integral component of endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in endometrium (RPKM 19.0), thyroid (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
SLC37A4, Official Symbol SLC37A4provided by HGNC Official Full Name solute carrier family 37 member 4provided by HGNC Primary source HGNC:HGNC:4061 See related Ensembl:ENSG00000137700 MIM:602671; AllianceGenome:HGNC:4061 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 G6PT; SPX4; CDG2W; G6PT1; G6PT2; G6PT3; GSD1b; GSD1c; GSD1d; TRG19; TRG-19; PRO0685 Summary This gene regulates glucose-6-phosphate transport from the cytoplasm to the lumen of the endoplasmic reticulum, in order to maintain glucose homeostasis. It also plays a role in ATP-mediated calcium sequestration in the lumen of the endoplasmic reticulum. Mutations in this gene have been associated with various forms of glycogen storage disease. Alternative splicing in this gene results in multiple transcript variants.[provided by RefSeq, Aug 2009] Annotation information Annotation category: suggests misassembly Expression Broad expression in kidney (RPKM 40.6), duodenum (RPKM 31.3) and 24 other tissues See more Orthologs mouse all
SLC38A1, Official Symbol SLC38A1provided by HGNC Official Full Name solute carrier family 38 member 1provided by HGNC Primary source HGNC:HGNC:13447 See related Ensembl:ENSG00000111371 MIM:608490; AllianceGenome:HGNC:13447 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 ATA1; NAT2; SAT1; SNAT1 Summary Amino acid transporters play essential roles in the uptake of nutrients, production of energy, chemical metabolism, detoxification, and neurotransmitter cycling. SLC38A1 is an important transporter of glutamine, an intermediate in the detoxification of ammonia and the production of urea. Glutamine serves as a precursor for the synaptic transmitter, glutamate (Gu et al., 2001 [PubMed 11325958]).[supplied by OMIM, Mar 2008] Expression Broad expression in lymph node (RPKM 24.7), thyroid (RPKM 21.1) and 23 other tissues See more Orthologs mouse all
SLC38A10, Official Symbol SLC38A10provided by HGNC Official Full Name solute carrier family 38 member 10provided by HGNC Primary source HGNC:HGNC:28237 See related Ensembl:ENSG00000157637 MIM:616525; AllianceGenome:HGNC:28237 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 PP1744; SNAT10 Summary Predicted to enable amino acid transmembrane transporter activity. Predicted to be involved in amino acid transmembrane transport. Predicted to act upstream of or within bone development. Located in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in spleen (RPKM 17.0), placenta (RPKM 15.5) and 25 other tissues See more Orthologs mouse all
SLC38A11, Official Symbol SLC38A11provided by HGNC Official Full Name solute carrier family 38 member 11provided by HGNC Primary source HGNC:HGNC:26836 See related Ensembl:ENSG00000169507 MIM:616526; AllianceGenome:HGNC:26836 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 AVT2 Summary Predicted to enable amino acid transmembrane transporter activity. Predicted to be involved in amino acid transmembrane transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in gall bladder (RPKM 4.2), stomach (RPKM 2.0) and 14 other tissues See more Orthologs mouse all
SLC38A2, Official Symbol SLC38A2provided by HGNC Official Full Name solute carrier family 38 member 2provided by HGNC Primary source HGNC:HGNC:13448 See related Ensembl:ENSG00000134294 MIM:605180; AllianceGenome:HGNC:13448 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 ATA2; SAT2; SNAT2; PRO1068 Summary Enables neutral amino acid:sodium symporter activity. Involved in several processes, including amino acid transport; cellular response to arsenite(3-); and positive regulation of RNA splicing. Located in cytoplasm and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in skin (RPKM 105.3), liver (RPKM 101.3) and 25 other tissues See more Orthologs mouse all
SLC38A3, Official Symbol SLC38A3provided by HGNC Official Full Name solute carrier family 38 member 3provided by HGNC Primary source HGNC:HGNC:18044 See related Ensembl:ENSG00000188338 MIM:604437; AllianceGenome:HGNC:18044 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 G17; SN1; NAT1; SNAT3; DEE102 Summary Enables L-amino acid transmembrane transporter activity. Involved in amino acid transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in liver (RPKM 98.6) and brain (RPKM 9.7) See more Orthologs mouse all
SLC38A4, Official Symbol SLC38A4provided by HGNC Official Full Name solute carrier family 38 member 4provided by HGNC Primary source HGNC:HGNC:14679 See related Ensembl:ENSG00000139209 MIM:608065; AllianceGenome:HGNC:14679 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 ATA3; NAT3; PAAT; SNAT4 Summary SLC38A4 is found predominantly in liver and transports both cationic and neutral amino acids. The transport of cationic amino acids by SLC38A4 is Na(+) and pH independent, while the transport of neutral amino acids is Na(+) and pH dependent (Hatanaka et al., 2001 [PubMed 11342143]).[supplied by OMIM, Mar 2008] Expression Restricted expression toward liver (RPKM 138.1) See more Orthologs mouse all
SLC38A5, Official Symbol SLC38A5provided by HGNC Official Full Name solute carrier family 38 member 5provided by HGNC Primary source HGNC:HGNC:18070 See related Ensembl:ENSG00000017483 MIM:300649; AllianceGenome:HGNC:18070 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 SN2; JM24; SNAT5; pp7194 Summary The protein encoded by this gene is a system N sodium-coupled amino acid transporter. The encoded protein transports glutamine, asparagine, histidine, serine, alanine, and glycine across the cell membrane, but does not transport charged amino acids, imino acids, or N-alkylated amino acids. Alternative splicing results in multiple transcript variants, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Aug 2013] Expression Broad expression in pancreas (RPKM 19.9), bone marrow (RPKM 15.5) and 18 other tissues See more Orthologs mouse all
SLC38A6, Official Symbol SLC38A6provided by HGNC Official Full Name solute carrier family 38 member 6provided by HGNC Primary source HGNC:HGNC:19863 See related Ensembl:ENSG00000139974 MIM:616518; AllianceGenome:HGNC:19863 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 NAT-1; SNAT6 Summary Predicted to enable L-glutamine transmembrane transporter activity. Predicted to be involved in amino acid transmembrane transport and glutamine transport. Predicted to be located in plasma membrane. Predicted to be integral component of plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 2.1), gall bladder (RPKM 1.9) and 24 other tissues See more Orthologs mouse all
SLC38A7, Official Symbol SLC38A7provided by HGNC Official Full Name solute carrier family 38 member 7provided by HGNC Primary source HGNC:HGNC:25582 See related Ensembl:ENSG00000103042 MIM:614236; AllianceGenome:HGNC:25582 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 SNAT7 Summary Predicted to enable L-amino acid transmembrane transporter activity. Predicted to be involved in amino acid transmembrane transport and sodium ion transport. Predicted to be located in axon and neuronal cell body. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 12.2), brain (RPKM 4.6) and 23 other tissues See more Orthologs mouse all
SLC38A8, Official Symbol SLC38A8provided by HGNC Official Full Name solute carrier family 38 member 8provided by HGNC Primary source HGNC:HGNC:32434 See related Ensembl:ENSG00000166558 MIM:615585; AllianceGenome:HGNC:32434 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 FVH2; FHASD; SNAT8 Summary This gene encodes a putative sodium-dependent amino-acid/proton antiporter. The protein has eleven transmembrane domains, an extracellular N-terminus and an intracellular C-terminal tail. The protein is a member of the SLC38 sodium-coupled neutral amino acid transporter family of proteins. Mutations in this gene result in foveal hypoplasia with or without optic nerve misrouting and/or anterior segment dysgenesis. [provided by RefSeq, May 2014] Expression Low expression observed in reference dataset See more Orthologs mouse all
SLC38A9, Official Symbol SLC38A9provided by HGNC Official Full Name solute carrier family 38 member 9provided by HGNC Primary source HGNC:HGNC:26907 See related Ensembl:ENSG00000177058 MIM:616203; AllianceGenome:HGNC:26907 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 SNAT9; URLC11 Summary Enables L-arginine transmembrane transporter activity and L-leucine transmembrane transporter activity. Involved in amino acid transmembrane transport; cellular response to amino acid stimulus; and positive regulation of TOR signaling. Located in late endosome and lysosomal membrane. Is integral component of lysosomal membrane. Colocalizes with Ragulator complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in placenta (RPKM 15.1), testis (RPKM 7.5) and 22 other tissues See more Orthologs mouse all
SLC39A1, Official Symbol SLC39A1provided by HGNC Official Full Name solute carrier family 39 member 1provided by HGNC Primary source HGNC:HGNC:12876 See related Ensembl:ENSG00000143570 MIM:604740; AllianceGenome:HGNC:12876 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 ZIP1; ZIRTL Summary This gene encodes a member of the zinc-iron permease family. The encoded protein is localized to the cell membrane and acts as a zinc uptake transporter. This gene has been linked to prostate cancer, breast cancer, and Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012] Expression Ubiquitous expression in placenta (RPKM 41.2), lung (RPKM 24.3) and 25 other tissues See more Orthologs mouse all
SLC39A10, Official Symbol SLC39A10provided by HGNC Official Full Name solute carrier family 39 member 10provided by HGNC Primary source HGNC:HGNC:20861 See related Ensembl:ENSG00000196950 MIM:608733; AllianceGenome:HGNC:20861 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 ZIP10; LZT-Hs2 Summary Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A10 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008] Expression Broad expression in thyroid (RPKM 12.9), brain (RPKM 12.5) and 21 other tissues See more Orthologs mouse all
SLC39A11, Official Symbol SLC39A11provided by HGNC Official Full Name solute carrier family 39 member 11provided by HGNC Primary source HGNC:HGNC:14463 See related Ensembl:ENSG00000133195 MIM:616508; AllianceGenome:HGNC:14463 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 ZIP11; ZIP-11; C17orf26 Summary Predicted to enable zinc ion transmembrane transporter activity. Predicted to be involved in zinc ion transmembrane transport. Predicted to be located in Golgi apparatus; nucleus; and plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 5.6), stomach (RPKM 5.0) and 25 other tissues See more Orthologs mouse all
SLC39A12, Official Symbol SLC39A12provided by HGNC Official Full Name solute carrier family 39 member 12provided by HGNC Primary source HGNC:HGNC:20860 See related Ensembl:ENSG00000148482 MIM:608734; AllianceGenome:HGNC:20860 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 ZIP12; ZIP-12; LZT-Hs8; bA570F3.1 Summary Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Aug 2008] Expression Restricted expression toward brain (RPKM 9.2) See more Orthologs mouse all
SLC39A12-AS1, Official Symbol SLC39A12-AS1provided by HGNC Official Full Name SLC39A12 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:44881 See related Ensembl:ENSG00000226083 AllianceGenome:HGNC:44881 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
SLC39A13, Official Symbol SLC39A13provided by HGNC Official Full Name solute carrier family 39 member 13provided by HGNC Primary source HGNC:HGNC:20859 See related Ensembl:ENSG00000165915 MIM:608735; AllianceGenome:HGNC:20859 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 ZIP13; SCDEDS; EDSSPD3; LZT-Hs9 Summary This gene encodes a member of the LIV-1 subfamily of the ZIP transporter family. The encoded transmembrane protein functions as a zinc transporter. Mutations in this gene have been associated with the spondylocheiro dysplastic form of Ehlers-Danlos syndrome. Alternate transcript variants have been found for this gene. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in placenta (RPKM 19.2), testis (RPKM 13.3) and 25 other tissues See more Orthologs mouse all
SLC39A14, Official Symbol SLC39A14provided by HGNC Official Full Name solute carrier family 39 member 14provided by HGNC Primary source HGNC:HGNC:20858 See related Ensembl:ENSG00000104635 MIM:608736; AllianceGenome:HGNC:20858 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 HCIN; NET34; ZIP14; cig19; HMNDYT2; LZT-Hs4 Summary This gene encodes a member of the the SLC39A family of divalent metal transporters that mediates the cellular uptake of manganese, zinc, iron, and cadmium. The encoded protein contains eight transmembrane domains, a histidine-rich motif, and a metalloprotease motif, and is expressed on the plasma membrane and the endocytic vesicle membrane. It is an important transporter of nontransferrin-bound iron and a critical regulator of manganese homeostasis. Naturally occurring mutations in this gene are associated with neurodegeneration with brain iron accumulation and early-onset parkinsonism-dystonia with hypermanganesemia. [provided by RefSeq, May 2017] Expression Broad expression in liver (RPKM 83.2), duodenum (RPKM 51.4) and 20 other tissues See more Orthologs mouse all
SLC39A2, Official Symbol SLC39A2provided by HGNC Official Full Name solute carrier family 39 member 2provided by HGNC Primary source HGNC:HGNC:17127 See related Ensembl:ENSG00000165794 MIM:612166; AllianceGenome:HGNC:17127 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 6A1; ZIP2; ETI-1; ZIP-2 Summary This gene encodes a member of the ZIP family of metal ion transporters. The encoded protein functions as a zinc transporter. Mutations in this gene may be associated with susceptibility to carotid artery disease. Multiple transcript variants have been described. [provided by RefSeq, Mar 2010] Expression Biased expression in skin (RPKM 12.0), esophagus (RPKM 8.3) and 3 other tissues See more Orthologs mouse all
SLC39A3, Official Symbol SLC39A3provided by HGNC Official Full Name solute carrier family 39 member 3provided by HGNC Primary source HGNC:HGNC:17128 See related Ensembl:ENSG00000141873 MIM:612168; AllianceGenome:HGNC:17128 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 ZIP3; ZIP-3 Summary Predicted to enable zinc ion transmembrane transporter activity. Predicted to be involved in zinc ion transmembrane transport. Predicted to act upstream of or within several processes, including T cell homeostasis; chordate embryonic development; and zinc ion transport. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in testis (RPKM 7.9), brain (RPKM 4.5) and 25 other tissues See more Orthologs mouse all
SLC39A4, Official Symbol SLC39A4provided by HGNC Official Full Name solute carrier family 39 member 4provided by HGNC Primary source HGNC:HGNC:17129 See related Ensembl:ENSG00000147804 MIM:607059; AllianceGenome:HGNC:17129 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 AEZ; ZIP4; AWMS2 Summary This gene encodes a member of the zinc/iron-regulated transporter-like protein (ZIP) family. The encoded protein localizes to cell membranes and is required for zinc uptake in the intestine. Mutations in this gene result in acrodermatitis enteropathica. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2013] Expression Biased expression in duodenum (RPKM 47.9), small intestine (RPKM 33.9) and 3 other tissues See more Orthologs mouse all
SLC39A5, Official Symbol SLC39A5provided by HGNC Official Full Name solute carrier family 39 member 5provided by HGNC Primary source HGNC:HGNC:20502 See related Ensembl:ENSG00000139540 MIM:608730; AllianceGenome:HGNC:20502 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 ZIP5; MYP24; LZT-Hs7 Summary The protein encoded by this gene belongs to the ZIP family of zinc transporters that transport zinc into cells from outside, and play a crucial role in controlling intracellular zinc levels. Zinc is an essential cofactor for many enzymes and proteins involved in gene transcription, growth, development and differentiation. Mutations in this gene have been associated with autosomal dominant high myopia (MYP24). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2014] Expression Biased expression in duodenum (RPKM 78.5), small intestine (RPKM 76.3) and 4 other tissues See more Orthologs mouse all
SLC39A6, Official Symbol SLC39A6provided by HGNC Official Full Name solute carrier family 39 member 6provided by HGNC Primary source HGNC:HGNC:18607 See related Ensembl:ENSG00000141424 MIM:608731; AllianceGenome:HGNC:18607 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 LIV1; ZIP6; LIV-1 Summary Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A6 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).[supplied by OMIM, Mar 2008] Expression Broad expression in prostate (RPKM 62.4), endometrium (RPKM 31.1) and 24 other tissues See more Orthologs mouse all
SLC39A7, Official Symbol SLC39A7provided by HGNC Official Full Name solute carrier family 39 member 7provided by HGNC Primary source HGNC:HGNC:4927 See related Ensembl:ENSG00000112473 MIM:601416; AllianceGenome:HGNC:4927 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 KE4; AGM9; HKE4; ZIP7; RING5; H2-KE4; D6S115E; D6S2244E Summary The protein encoded by this gene transports zinc from the Golgi and endoplasmic reticulum to the cytoplasm. This transport may be important for activation of tyrosine kinases, some of which could be involved in cancer progression. Therefore, modulation of the encoded protein could be useful as a therapeutic agent against cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Expression Ubiquitous expression in prostate (RPKM 58.8), placenta (RPKM 52.4) and 25 other tissues See more Orthologs mouse all
SLC39A8, Official Symbol SLC39A8provided by HGNC Official Full Name solute carrier family 39 member 8provided by HGNC Primary source HGNC:HGNC:20862 See related Ensembl:ENSG00000138821 MIM:608732; AllianceGenome:HGNC:20862 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 ZIP8; CDG2N; PP3105; BIGM103; LZT-Hs6 Summary This gene encodes a member of the SLC39 family of solute-carrier genes, which show structural characteristics of zinc transporters. The encoded protein is glycosylated and found in the plasma membrane and mitochondria, and functions in the cellular import of zinc at the onset of inflammation. It is also thought to be the primary transporter of the toxic cation cadmium, which is found in cigarette smoke. Multiple transcript variants encoding different isoforms have been found for this gene. Additional alternatively spliced transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Oct 2008] Expression Biased expression in lung (RPKM 46.9), colon (RPKM 11.2) and 13 other tissues See more Orthologs mouse all
SLC39A9, Official Symbol SLC39A9provided by HGNC Official Full Name solute carrier family 39 member 9provided by HGNC Primary source HGNC:HGNC:20182 See related Ensembl:ENSG00000029364 MIM:619116; AllianceGenome:HGNC:20182 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 ZIP9; ZIP-9 Summary Predicted to enable metal ion transmembrane transporter activity. Predicted to be involved in transmembrane transport and zinc ion transport. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 15.0), kidney (RPKM 14.8) and 25 other tissues See more Orthologs mouse all
SLC3A1, Official Symbol SLC3A1provided by HGNC Official Full Name solute carrier family 3 member 1provided by HGNC Primary source HGNC:HGNC:11025 See related Ensembl:ENSG00000138079 MIM:104614; AllianceGenome:HGNC:11025 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 D2H; ATR1; NBAT; RBAT; CSNU1 Summary This gene encodes a type II membrane glycoprotein which is one of the components of the renal amino acid transporter which transports neutral and basic amino acids in the renal tubule and intestinal tract. Mutations and deletions in this gene are associated with cystinuria. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008] Expression Biased expression in kidney (RPKM 175.5), small intestine (RPKM 50.6) and 6 other tissues See more Orthologs mouse all
SLC3A2, Official Symbol SLC3A2provided by HGNC Official Full Name solute carrier family 3 member 2provided by HGNC Primary source HGNC:HGNC:11026 See related Ensembl:ENSG00000168003 MIM:158070; AllianceGenome:HGNC:11026 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 4F2; CD98; MDU1; 4F2HC; 4T2HC; NACAE; CD98HC Summary This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds to one of several possible light chains. The encoded transporter plays a role in regulation of intracellular calcium levels and transports L-type amino acids. Alternatively spliced transcript variants, encoding different isoforms, have been characterized. [provided by RefSeq, Nov 2010] Expression Ubiquitous expression in kidney (RPKM 68.6), bone marrow (RPKM 41.5) and 25 other tissues See more Orthologs mouse all
SLC40A1, Official Symbol SLC40A1provided by HGNC Official Full Name solute carrier family 40 member 1provided by HGNC Primary source HGNC:HGNC:10909 See related Ensembl:ENSG00000138449 MIM:604653; AllianceGenome:HGNC:10909 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 FPN; FPN1; HFE4; MTP1; IREG1; MST079; MSTP079; SLC11A3 Summary The protein encoded by this gene is a cell membrane protein that may be involved in iron export from duodenal epithelial cells. Defects in this gene are a cause of hemochromatosis type 4 (HFE4). [provided by RefSeq, Jul 2008] Expression Broad expression in spleen (RPKM 192.7), ovary (RPKM 171.6) and 22 other tissues See more Orthologs mouse all
SLC41A1, Official Symbol SLC41A1provided by HGNC Official Full Name solute carrier family 41 member 1provided by HGNC Primary source HGNC:HGNC:19429 See related Ensembl:ENSG00000133065 MIM:610801; AllianceGenome:HGNC:19429 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 MgtE; NPHPL2 Summary Enables magnesium ion transmembrane transporter activity and magnesium:sodium antiporter activity. Involved in cellular magnesium ion homeostasis; cellular response to magnesium ion; and magnesium ion transmembrane transport. Located in basolateral plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in heart (RPKM 55.1), testis (RPKM 27.0) and 20 other tissues See more Orthologs mouse all
SLC41A2, Official Symbol SLC41A2provided by HGNC Official Full Name solute carrier family 41 member 2provided by HGNC Primary source HGNC:HGNC:31045 See related Ensembl:ENSG00000136052 MIM:610802; AllianceGenome:HGNC:31045 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 SLC41A1-L1 Summary Predicted to enable inorganic cation transmembrane transporter activity. Predicted to be involved in magnesium ion transmembrane transport. Predicted to act upstream of or within metal ion transport. Predicted to be integral component of membrane. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in liver (RPKM 11.3), duodenum (RPKM 5.8) and 20 other tissues See more Orthologs mouse all
SLC41A3, Official Symbol SLC41A3provided by HGNC Official Full Name solute carrier family 41 member 3provided by HGNC Primary source HGNC:HGNC:31046 See related Ensembl:ENSG00000114544 MIM:610803; AllianceGenome:HGNC:31046 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 SLC41A1-L2 Summary Predicted to enable cation transmembrane transporter activity. Predicted to be involved in cation transmembrane transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in testis (RPKM 23.3), ovary (RPKM 19.3) and 25 other tissues See more Orthologs mouse all
SLC43A1, Official Symbol SLC43A1provided by HGNC Official Full Name solute carrier family 43 member 1provided by HGNC Primary source HGNC:HGNC:9225 See related Ensembl:ENSG00000149150 MIM:603733; AllianceGenome:HGNC:9225 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 LAT3; PB39; POV1; R00504 Summary SLC43A1 belongs to the system L family of plasma membrane carrier proteins that transports large neutral amino acids (Babu et al., 2003 [PubMed 12930836]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in pancreas (RPKM 25.5), liver (RPKM 24.1) and 24 other tissues See more Orthologs mouse all
SLC43A2, Official Symbol SLC43A2provided by HGNC Official Full Name solute carrier family 43 member 2provided by HGNC Primary source HGNC:HGNC:23087 See related Ensembl:ENSG00000167703 MIM:610791; AllianceGenome:HGNC:23087 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 LAT4 Summary This gene encodes a member of the L-amino acid transporter-3 or SLC43 family of transporters. The encoded protein mediates sodium-, chloride-, and pH-independent transport of L-isomers of neutral amino acids, including leucine, phenylalanine, valine and methionine. This protein may contribute to the transfer of amino acids across the placental membrane to the fetus. [provided by RefSeq, Mar 2016] Expression Broad expression in placenta (RPKM 24.5), kidney (RPKM 14.0) and 16 other tissues See more Orthologs mouse all
SLC43A3, Official Symbol SLC43A3provided by HGNC Official Full Name solute carrier family 43 member 3provided by HGNC Primary source HGNC:HGNC:17466 See related Ensembl:ENSG00000134802 MIM:618034; AllianceGenome:HGNC:17466 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 EEG1; ENBT1; FOAP-13; PRO1659; SEEEG-1 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 thyroid (RPKM 33.1), liver (RPKM 25.7) and 24 other tissues See more Orthologs mouse all
SLC44A1, Official Symbol SLC44A1provided by HGNC Official Full Name solute carrier family 44 member 1provided by HGNC Primary source HGNC:HGNC:18798 See related Ensembl:ENSG00000070214 MIM:606105; AllianceGenome:HGNC:18798 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 CD92; CTL1; CDW92; CHTL1; CONATOC Summary Enables choline transmembrane transporter activity. Involved in choline transport and transmembrane transport. Located in several cellular components, including cytosol; mitochondrion; and nucleoplasm. Implicated in high grade glioma. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in colon (RPKM 21.5), thyroid (RPKM 20.3) and 25 other tissues See more Orthologs mouse all
SLC44A2, Official Symbol SLC44A2provided by HGNC Official Full Name solute carrier family 44 member 2provided by HGNC Primary source HGNC:HGNC:17292 See related Ensembl:ENSG00000129353 MIM:606106; AllianceGenome:HGNC:17292 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 CTL2; PP1292 Summary Enables choline transmembrane transporter activity. Involved in choline transport and transmembrane transport. Located in mitochondrion and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in placenta (RPKM 82.0), spleen (RPKM 69.3) and 25 other tissues See more Orthologs mouse all
SLC44A3, Official Symbol SLC44A3provided by HGNC Official Full Name solute carrier family 44 member 3provided by HGNC Primary source HGNC:HGNC:28689 See related Ensembl:ENSG00000143036 MIM:620328; AllianceGenome:HGNC:28689 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 CTL3 Summary Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 8.6), colon (RPKM 8.5) and 20 other tissues See more Orthologs mouse all
SLC44A3-AS1, Official Symbol SLC44A3-AS1provided by HGNC Official Full Name SLC44A3 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49057 See related Ensembl:ENSG00000224081 AllianceGenome:HGNC:49057 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as LINC01057; XLOC_000303 Expression Broad expression in colon (RPKM 1.2), gall bladder (RPKM 1.0) and 21 other tissues See more
SLC44A4, Official Symbol SLC44A4provided by HGNC Official Full Name solute carrier family 44 member 4provided by HGNC Primary source HGNC:HGNC:13941 See related Ensembl:ENSG00000204385 MIM:606107; AllianceGenome:HGNC:13941 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 CTL4; NG22; TPPT; DFNA72; hTPPT1; C6orf29 Summary The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010] Expression Biased expression in colon (RPKM 98.7), stomach (RPKM 72.4) and 9 other tissues See more Orthologs mouse all
SLC44A5, Official Symbol SLC44A5provided by HGNC Official Full Name solute carrier family 44 member 5provided by HGNC Primary source HGNC:HGNC:28524 See related Ensembl:ENSG00000137968 MIM:620329; AllianceGenome:HGNC:28524 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 CTL5 Summary Predicted to enable transmembrane transporter activity. Predicted to be involved in transmembrane transport. Predicted to be located in plasma membrane. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in skin (RPKM 2.6), testis (RPKM 1.3) and 21 other tissues See more Orthologs mouse all
SLC45A1, Official Symbol SLC45A1provided by HGNC Official Full Name solute carrier family 45 member 1provided by HGNC Primary source HGNC:HGNC:17939 See related Ensembl:ENSG00000162426 MIM:605763; AllianceGenome:HGNC:17939 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 DNB5; IDDNPF; PAST-A Summary This gene was isolated initially from a region on chromosome 1p that is frequently deleted in human neuroblastoma, although no causal relationship has since been demonstrated. The encoded protein belongs to the glycoside-pentoside-hexuronide cation symporter transporter family and may play a role in glucose uptake. [provided by RefSeq, Mar 2014] Expression Broad expression in brain (RPKM 4.3), endometrium (RPKM 1.5) and 19 other tissues See more Orthologs mouse all
SLC45A2, Official Symbol SLC45A2provided by HGNC Official Full Name solute carrier family 45 member 2provided by HGNC Primary source HGNC:HGNC:16472 See related Ensembl:ENSG00000164175 MIM:606202; AllianceGenome:HGNC:16472 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 1A1; AIM1; MATP; OCA4; SHEP5 Summary This gene encodes a transporter protein that mediates melanin synthesis. The protein is expressed in a high percentage of melanoma cell lines. Mutations in this gene are a cause of oculocutaneous albinism type 4, and polymorphisms in this gene are associated with variations in skin and hair color. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009] Expression Low expression observed in reference dataset See more Orthologs mouse all