psui3905/ncbi_genes_summary huggingface dataset:
GAGE12E, Official Symbol GAGE12Eprovided by HGNC Official Full Name G antigen 12Eprovided by HGNC Primary source HGNC:HGNC:31905 See related Ensembl:ENSG00000216649 MIM:300729; AllianceGenome:HGNC:31905 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 GAGE-12B Expression Restricted expression toward testis (RPKM 129.9) See more
GAGE12F, Official Symbol GAGE12Fprovided by HGNC Official Full Name G antigen 12Fprovided by HGNC Primary source HGNC:HGNC:31906 See related Ensembl:ENSG00000236362 MIM:300730; AllianceGenome:HGNC:31906 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 AL4; CT4.7; GAGE7; GAGE-7; GAGE-8; GAGE7B; GAGE-7B Expression Restricted expression toward testis (RPKM 154.6) See more
GAGE12G, Official Symbol GAGE12Gprovided by HGNC Official Full Name G antigen 12Gprovided by HGNC Primary source HGNC:HGNC:31907 See related Ensembl:ENSG00000215269 MIM:300731; AllianceGenome:HGNC:31907 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 AL4; CT4.7; GAGE-12G Expression Restricted expression toward testis (RPKM 163.8) See more
GAGE12H, Official Symbol GAGE12Hprovided by HGNC Official Full Name G antigen 12Hprovided by HGNC Primary source HGNC:HGNC:31908 See related Ensembl:ENSG00000224902 MIM:300732; AllianceGenome:HGNC:31908 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 Expression Restricted expression toward testis (RPKM 125.0) See more
GAGE12J, Official Symbol GAGE12Jprovided by HGNC Official Full Name G antigen 12Jprovided by HGNC Primary source HGNC:HGNC:17778 See related Ensembl:ENSG00000224659 MIM:300733; AllianceGenome:HGNC:17778 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 GAGE11 Expression Restricted expression toward testis (RPKM 116.9) See more
GAGE13, Official Symbol GAGE13provided by HGNC Official Full Name G antigen 13provided by HGNC Primary source HGNC:HGNC:29081 See related Ensembl:ENSG00000274274 MIM:300734; AllianceGenome:HGNC:29081 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 GAGE-13; GAGE12A; GAGE-12A Expression Restricted expression toward testis (RPKM 122.7) See more
GAGE2A, Official Symbol GAGE2Aprovided by HGNC Official Full Name G antigen 2Aprovided by HGNC Primary source HGNC:HGNC:4099 See related Ensembl:ENSG00000189064 MIM:300720; AllianceGenome:HGNC:4099 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 CT4.2; GAGE2; GAGE-2; GAGE-2A Expression Restricted expression toward testis (RPKM 124.8) See more
GAGE2E, Official Symbol GAGE2Eprovided by HGNC Official Full Name G antigen 2Eprovided by HGNC Primary source HGNC:HGNC:31960 See related MIM:300736; AllianceGenome:HGNC:31960 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 GAGE8; GAGE-2E Annotation information not in current annotation release
GAK, Official Symbol GAKprovided by HGNC Official Full Name cyclin G associated kinaseprovided by HGNC Primary source HGNC:HGNC:4113 See related Ensembl:ENSG00000178950 MIM:602052; AllianceGenome:HGNC:4113 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 DNAJ26; DNAJC26 Summary In all eukaryotes, the cell cycle is governed by cyclin-dependent protein kinases (CDKs), whose activities are regulated by cyclins and CDK inhibitors in a diverse array of mechanisms that involve the control of phosphorylation and dephosphorylation of Ser, Thr or Tyr residues. Cyclins are molecules that possess a consensus domain called the 'cyclin box.' In mammalian cells, 9 cyclin species have been identified, and they are referred to as cyclins A through I. Cyclin G is a direct transcriptional target of the p53 tumor suppressor gene product and thus functions downstream of p53. GAK is an association partner of cyclin G and CDK5. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] Expression Ubiquitous expression in testis (RPKM 16.1), colon (RPKM 15.2) and 25 other tissues See more Orthologs mouse all
GAL, Official Symbol GALprovided by HGNC Official Full Name galanin and GMAP prepropeptideprovided by HGNC Primary source HGNC:HGNC:4114 See related Ensembl:ENSG00000069482 MIM:137035; AllianceGenome:HGNC:4114 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 ETL8; GALN; GLNN; GMAP; GAL-GMAP Summary This gene encodes a neuroendocrine peptide that is widely expressed in the central and peripheral nervous systems and also the gastrointestinal tract, pancreas, adrenal gland and urogenital tract. The encoded protein is a precursor that is proteolytically processed to generate two mature peptides: galanin and galanin message-associated peptide (GMAP). Galanin has diverse physiological functions including nociception, feeding and energy homeostasis, osmotic regulation and water balance. GMAP has been demonstrated to possess antifungal activity and hypothesized to be part of the innate immune system. [provided by RefSeq, Jul 2015] Expression Biased expression in appendix (RPKM 6.0), colon (RPKM 2.3) and 5 other tissues See more Orthologs mouse all
GAL3ST1, Official Symbol GAL3ST1provided by HGNC Official Full Name galactose-3-O-sulfotransferase 1provided by HGNC Primary source HGNC:HGNC:24240 See related Ensembl:ENSG00000128242 MIM:602300; AllianceGenome:HGNC:24240 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 CST Summary Sulfonation, an important step in the metabolism of many drugs, xenobiotics, hormones, and neurotransmitters, is catalyzed by sulfotransferases. This gene encodes galactosylceramide sulfotransferase, which catalyzes the sulfation of membrane glycolipids including the final step in the synthesis of sulfatide, a major lipid component of the myelin sheath. This gene exhibits elevated expression in ovarian epithelial carcinoma and the encoded enzyme exhibits elevated activity in renal cell carcinoma. Mutations in this gene may be associated with reduced insulin resistance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015] Expression Biased expression in kidney (RPKM 2.0), duodenum (RPKM 1.8) and 9 other tissues See more Orthologs mouse all
GAL3ST2, Official Symbol GAL3ST2provided by HGNC Official Full Name galactose-3-O-sulfotransferase 2provided by HGNC Primary source HGNC:HGNC:24869 See related Ensembl:ENSG00000154252 MIM:608237; AllianceGenome:HGNC:24869 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 GP3ST; GAL3ST-2 Summary This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the hydroxyl at C-3 of nonreducing beta-galactosyl residues, and it can act on both type 1 and type 2 (Galbeta 1-3/1-4GlcNAc-R) oligosaccharides with similar efficiencies, and on core 1 glycans. This enzyme has been implicated in tumor metastasis processes. This gene is different from the GAL3ST3 gene located on chromosome 11, which has also been referred to as GAL3ST2 and encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 2. [provided by RefSeq, Jul 2008] Expression Restricted expression toward colon (RPKM 8.9) See more Orthologs all
GAL3ST3, Official Symbol GAL3ST3provided by HGNC Official Full Name galactose-3-O-sulfotransferase 3provided by HGNC Primary source HGNC:HGNC:24144 See related Ensembl:ENSG00000175229 MIM:608234; AllianceGenome:HGNC:24144 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 GAL3ST2; GAL3ST-3 Summary This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate group to the 3' position of galactose in N-acetyllactosamine in both type 2 (Gal-beta-1-4GlcNAc-R) oligosaccharides and core-2-branched O-glycans, but not on type 1 or core-1-branched structures. This gene, which has also been referred to as GAL3ST2, is different from the GAL3ST2 gene located on chromosome 2 that encodes a related enzyme with distinct tissue distribution and substrate specificities, compared to galactose-3-O-sulfotransferase 3. [provided by RefSeq, Jul 2008] Expression Biased expression in thyroid (RPKM 2.2), endometrium (RPKM 2.0) and 5 other tissues See more Orthologs mouse all
GAL3ST4, Official Symbol GAL3ST4provided by HGNC Official Full Name galactose-3-O-sulfotransferase 4provided by HGNC Primary source HGNC:HGNC:24145 See related Ensembl:ENSG00000197093 MIM:608235; AllianceGenome:HGNC:24145 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 GAL3ST-4 Summary This gene encodes a member of the galactose-3-O-sulfotransferase protein family. The product of this gene catalyzes sulfonation by transferring a sulfate to the C-3' position of galactose residues in O-linked glycoproteins. This enzyme is highly specific for core 1 structures, with asialofetuin, Gal-beta-1,3-GalNAc and Gal-beta-1,3 (GlcNAc-beta-1,6)GalNAc being good substrates. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in skin (RPKM 11.3), salivary gland (RPKM 5.3) and 21 other tissues See more Orthologs mouse all
GALC, Official Symbol GALCprovided by HGNC Official Full Name galactosylceramidaseprovided by HGNC Primary source HGNC:HGNC:4115 See related Ensembl:ENSG00000054983 MIM:606890; AllianceGenome:HGNC:4115 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in small intestine (RPKM 14.9), duodenum (RPKM 14.2) and 25 other tissues See more Orthologs mouse all
GALE, Official Symbol GALEprovided by HGNC Official Full Name UDP-galactose-4-epimeraseprovided by HGNC Primary source HGNC:HGNC:4116 See related Ensembl:ENSG00000117308 MIM:606953; AllianceGenome:HGNC:4116 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 SDR1E1 Summary This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and cognitive disability, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008] Expression Broad expression in stomach (RPKM 46.3), duodenum (RPKM 23.9) and 19 other tissues See more Orthologs mouse all
GALK1, Official Symbol GALK1provided by HGNC Official Full Name galactokinase 1provided by HGNC Primary source HGNC:HGNC:4118 See related Ensembl:ENSG00000108479 MIM:604313; AllianceGenome:HGNC:4118 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 GK1; GALK; HEL-S-19 Summary Galactokinase is a major enzyme for the metabolism of galactose and its deficiency causes congenital cataracts during infancy and presenile cataracts in the adult population. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in kidney (RPKM 15.6), liver (RPKM 14.6) and 25 other tissues See more Orthologs mouse all
GALK2, Official Symbol GALK2provided by HGNC Official Full Name galactokinase 2provided by HGNC Primary source HGNC:HGNC:4119 See related Ensembl:ENSG00000156958 MIM:137028; AllianceGenome:HGNC:4119 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 GK2 Summary This gene encodes a highly efficient N-acetylgalactosamine (GalNAc) kinase, which has galactokinase activity when galactose is present at high concentrations. The encoded protein is a member of the GHMP kinase family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2017] Expression Ubiquitous expression in kidney (RPKM 4.3), duodenum (RPKM 3.4) and 25 other tissues See more Orthologs mouse all
GALM, Official Symbol GALMprovided by HGNC Official Full Name galactose mutarotaseprovided by HGNC Primary source HGNC:HGNC:24063 See related Ensembl:ENSG00000143891 MIM:137030; AllianceGenome:HGNC:24063 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 GLAT; IBD1; GALAC4; BLOCK25; HEL-S-63p Summary This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009] Expression Broad expression in kidney (RPKM 43.9), duodenum (RPKM 30.0) and 20 other tissues See more Orthologs mouse all
GALNS, Official Symbol GALNSprovided by HGNC Official Full Name galactosamine (N-acetyl)-6-sulfataseprovided by HGNC Primary source HGNC:HGNC:4122 See related Ensembl:ENSG00000141012 MIM:612222; AllianceGenome:HGNC:4122 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 GAS; MPS4A; GalN6S; GALNAC6S Summary This gene encodes N-acetylgalactosamine-6-sulfatase which is a lysosomal exohydrolase required for the degradation of the glycosaminoglycans, keratan sulfate, and chondroitin 6-sulfate. Sequence alterations including point, missense and nonsense mutations, as well as those that affect splicing, result in a deficiency of this enzyme. Deficiencies of this enzyme lead to Morquio A syndrome, a lysosomal storage disorder. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in bone marrow (RPKM 4.9), testis (RPKM 3.4) and 24 other tissues See more Orthologs mouse all
GALNT1, Official Symbol GALNT1provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 1provided by HGNC Primary source HGNC:HGNC:4123 See related Ensembl:ENSG00000141429 MIM:602273; AllianceGenome:HGNC:4123 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 GALNAC-T1 Summary This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. Transcript variants derived from this gene that utilize alternative polyA signals have been described in the literature. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in urinary bladder (RPKM 44.6), esophagus (RPKM 32.6) and 25 other tissues See more Orthologs mouse all
GALNT10, Official Symbol GALNT10provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 10provided by HGNC Primary source HGNC:HGNC:19873 See related Ensembl:ENSG00000164574 MIM:608043; AllianceGenome:HGNC:19873 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 GALNACT10; PPGALNACT10; PPGANTASE10 Summary This gene encodes a member of the GalNAc polypeptide N-acetylgalactosaminyltransferases. These enzymes catalyze the first step in the synthesis of mucin-type oligosaccharides. These proteins transfer GalNAc from UDP-GalNAc to either serine or threonine residues of polypeptide acceptors. The protein encoded by this locus may have increased catalytic activity toward glycosylated peptides compared to activity toward non-glycosylated peptides.[provided by RefSeq, Apr 2010] Expression Ubiquitous expression in ovary (RPKM 33.6), gall bladder (RPKM 12.6) and 23 other tissues See more Orthologs mouse all
GALNT11, Official Symbol GALNT11provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 11provided by HGNC Primary source HGNC:HGNC:19875 See related Ensembl:ENSG00000178234 MIM:615130; AllianceGenome:HGNC:19875 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 GALNACT11; GALNAC-T11 Summary Enables Notch binding activity and polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation via threonine. Predicted to be located in Golgi membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in kidney (RPKM 69.9), placenta (RPKM 22.3) and 24 other tissues See more Orthologs mouse all
GALNT12, Official Symbol GALNT12provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 12provided by HGNC Primary source HGNC:HGNC:19877 See related Ensembl:ENSG00000119514 MIM:610290; AllianceGenome:HGNC:19877 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 CRCS1; GalNAc-T12 Summary This gene encodes a member of a family of UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferases, which catalyze the transfer of N-acetylgalactosamine (GalNAc) from UDP-GalNAc to a serine or threonine residue on a polypeptide acceptor in the initial step of O-linked protein glycosylation. Mutations in this gene are associated with an increased susceptibility to colorectal cancer.[provided by RefSeq, Mar 2011] Expression Biased expression in colon (RPKM 24.5), stomach (RPKM 17.8) and 12 other tissues See more Orthologs mouse all
GALNT13, Official Symbol GALNT13provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 13provided by HGNC Primary source HGNC:HGNC:23242 See related Ensembl:ENSG00000144278 MIM:608369; AllianceGenome:HGNC:23242 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 LINC01850; GalNAc-T13 Summary The GALNT13 protein is a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAcT; EC 2.4.1.41) family, which initiate O-linked glycosylation of mucins (see MUC3A, MIM 158371) by the initial transfer of N-acetylgalactosamine (GalNAc) with an alpha-linkage to a serine or threonine residue.[supplied by OMIM, Apr 2004] Annotation information Note: This gene has been reviewed for its involvement in coronavirus biology, and is locus in the vicinity of disease-associated variant(s). Expression Biased expression in brain (RPKM 11.3), adrenal (RPKM 2.3) and 5 other tissues See more Orthologs mouse all
GALNT14, Official Symbol GALNT14provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 14provided by HGNC Primary source HGNC:HGNC:22946 See related Ensembl:ENSG00000158089 MIM:608225; AllianceGenome:HGNC:22946 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 GALNT15; GalNac-T10; GalNac-T14 Summary This gene encodes a Golgi protein which is a member of the polypeptide N-acetylgalactosaminyltransferase (ppGalNAc-Ts) protein family. These enzymes catalyze the transfer of N-acetyl-D-galactosamine (GalNAc) to the hydroxyl groups on serines and threonines in target peptides. The encoded protein has been shown to transfer GalNAc to large proteins like mucins. Alterations in this gene may play a role in cancer progression and response to chemotherapy. [provided by RefSeq, Jun 2016] Expression Biased expression in kidney (RPKM 5.0), esophagus (RPKM 0.7) and 7 other tissues See more Orthologs mouse all
GALNT15, Official Symbol GALNT15provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 15provided by HGNC Primary source HGNC:HGNC:21531 See related Ensembl:ENSG00000131386 MIM:615131; AllianceGenome:HGNC:21531 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 PIH5; GALNT7; GALNT13; GALNTL2; GALNACT15; pp-GalNAc-T15 Summary Predicted to enable polypeptide N-acetylgalactosaminyltransferase activity. Predicted to be involved in O-glycan processing. Located in transport vesicle. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in fat (RPKM 7.2), brain (RPKM 5.4) and 14 other tissues See more Orthologs mouse all
GALNT16, Official Symbol GALNT16provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 16provided by HGNC Primary source HGNC:HGNC:23233 See related Ensembl:ENSG00000100626 MIM:615132; AllianceGenome:HGNC:23233 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 GALNTL1; GALNACT16; GalNAc-T16 Summary Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation via serine and protein O-linked glycosylation via threonine. Predicted to be located in Golgi membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in brain (RPKM 7.7), heart (RPKM 6.0) and 21 other tissues See more Orthologs mouse all
GALNT17, Official Symbol GALNT17provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 17provided by HGNC Primary source HGNC:HGNC:16347 See related Ensembl:ENSG00000185274 MIM:615137; AllianceGenome:HGNC:16347 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 GALNT16; GALNT20; GALNTL3; WBSCR17; GALNACT17; GalNAc-T17; GalNAc-T19; GalNAc-T5L Summary This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013] Expression Biased expression in brain (RPKM 15.1), ovary (RPKM 6.4) and 12 other tissues See more Orthologs mouse all
GALNT18, Official Symbol GALNT18provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 18provided by HGNC Primary source HGNC:HGNC:30488 See related Ensembl:ENSG00000110328 MIM:615136; AllianceGenome:HGNC:30488 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 GALNT15; GALNTL4; GALNACT18; GalNAc-T15; GalNAc-T18 Summary Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation. Predicted to be located in Golgi membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in thyroid (RPKM 3.7), lung (RPKM 3.5) and 24 other tissues See more Orthologs mouse all
GALNT2, Official Symbol GALNT2provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 2provided by HGNC Primary source HGNC:HGNC:4124 See related Ensembl:ENSG00000143641 MIM:602274; AllianceGenome:HGNC:4124 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 CDG2T; GalNAc-T2 Summary This gene encodes a member of the glycosyltransferase 2 protein family. Members of this family initiate mucin-type O-glycoslation of peptides in the Golgi apparatus. The encoded protein may be involved in O-linked glycosylation of the immunoglobulin A1 hinge region. This gene may influence triglyceride levels, and may be involved Type 2 diabetes, as well as several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014] Expression Ubiquitous expression in ovary (RPKM 16.5), appendix (RPKM 14.3) and 25 other tissues See more Orthologs mouse all
GALNT3, Official Symbol GALNT3provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 3provided by HGNC Primary source HGNC:HGNC:4125 See related Ensembl:ENSG00000115339 MIM:601756; AllianceGenome:HGNC:4125 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 HHS; HFTC; HFTC1; GalNAc-T3 Summary This gene encodes UDP-GalNAc transferase 3, a member of the GalNAc-transferases family. This family transfers an N-acetyl galactosamine to the hydroxyl group of a serine or threonine residue in the first step of O-linked oligosaccharide biosynthesis. Individual GalNAc-transferases have distinct activities and initiation of O-glycosylation is regulated by a repertoire of GalNAc-transferases. The protein encoded by this gene is highly homologous to other family members, however the enzymes have different substrate specificities. [provided by RefSeq, Jul 2008] Expression Broad expression in stomach (RPKM 20.1), colon (RPKM 15.8) and 19 other tissues See more Orthologs mouse all
GALNT4, Official Symbol GALNT4provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 4provided by HGNC Primary source HGNC:HGNC:4126 See related Ensembl:ENSG00000257594 MIM:603565; AllianceGenome:HGNC:4126 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 GALNACT4; GALNAC-T4 Summary This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. In vitro, the encoded protein can complement other GalNAc-Ts in the complete O-glycosylation of the mucin-1 tandem repeat and can O-glycosylate the P-selectin glycoprotein ligand-1 molecule. The coding region of this gene is contained within a single exon. Fusion transcripts, which combine part of this gene with the 5' exons of the neighboring POC1B (POC1 centriolar protein homolog B) gene, also exist. [provided by RefSeq, Dec 2010] Orthologs mouse all
GALNT5, Official Symbol GALNT5provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 5provided by HGNC Primary source HGNC:HGNC:4127 See related Ensembl:ENSG00000136542 MIM:615129; AllianceGenome:HGNC:4127 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 GALNACT5; GALNAC-T5 Summary The protein encoded by this gene is a membrane-bound polypeptide N-acetylgalactosaminyltransferase that is found in the Golgi. The encoded protein catalyzes the first step in the mucin-type O-glycosylation of Golgi proteins, transfering an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. [provided by RefSeq, Aug 2016] Expression Biased expression in colon (RPKM 10.1), lung (RPKM 7.0) and 7 other tissues See more Orthologs mouse all
GALNT6, Official Symbol GALNT6provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 6provided by HGNC Primary source HGNC:HGNC:4128 See related Ensembl:ENSG00000139629 MIM:605148; AllianceGenome:HGNC:4128 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 GalNAcT6; GALNAC-T6 Summary This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. The encoded protein is capable of glycosylating fibronectin peptide in vitro and is expressed in a fibroblast cell line, indicating that it may be involved in the synthesis of oncofetal fibronectin. [provided by RefSeq, Jul 2008] Expression Broad expression in stomach (RPKM 18.9), small intestine (RPKM 7.1) and 16 other tissues See more Orthologs mouse all
GALNT7, Official Symbol GALNT7provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 7provided by HGNC Primary source HGNC:HGNC:4129 See related Ensembl:ENSG00000109586 MIM:605005; AllianceGenome:HGNC:4129 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 GalNAcT7; GALNAC-T7 Summary This gene encodes GalNAc transferase 7, a member of the GalNAc-transferase family. The enzyme encoded by this gene controls the initiation step of mucin-type O-linked protein glycosylation and transfer of N-acetylgalactosamine to serine and threonine amino acid residues. This enzyme is a type II transmembrane protein and shares common sequence motifs with other family members. Unlike other family members, this enzyme shows exclusive specificity for partially GalNAc-glycosylated acceptor substrates and shows no activity with non-glycosylated peptides. This protein may function as a follow-up enzyme in the initiation step of O-glycosylation. [provided by RefSeq, Jul 2008] Expression Broad expression in stomach (RPKM 19.2), colon (RPKM 18.8) and 23 other tissues See more Orthologs mouse all
GALNT8, Official Symbol GALNT8provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 8provided by HGNC Primary source HGNC:HGNC:4130 See related Ensembl:ENSG00000130035 MIM:606250; AllianceGenome:HGNC:4130 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 GALNAC-T8 Summary This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. [provided by RefSeq, Jul 2008] Expression Biased expression in colon (RPKM 8.3), small intestine (RPKM 6.0) and 3 other tissues See more Orthologs mouse all
GALNT9, Official Symbol GALNT9provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase 9provided by HGNC Primary source HGNC:HGNC:4131 See related Ensembl:ENSG00000182870 MIM:606251; AllianceGenome:HGNC:4131 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 GALNACT9; GALNAC-T9 Summary This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins. They are characterized by an N-terminal transmembrane domain, a stem region, a lumenal catalytic domain containing a GT1 motif and Gal/GalNAc transferase motif, and a C-terminal ricin/lectin-like domain. GalNAc-Ts have different, but overlapping, substrate specificities and patterns of expression. This gene is expressed specifically in the brain, with highest expression in the cerebellum. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Annotation information Annotation category: suggests misassembly Expression Biased expression in brain (RPKM 5.0), thyroid (RPKM 1.4) and 1 other tissue See more Orthologs mouse all
GALNTL5, Official Symbol GALNTL5provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase like 5provided by HGNC Primary source HGNC:HGNC:21725 See related Ensembl:ENSG00000106648 MIM:615133; AllianceGenome:HGNC:21725 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 GALNT15; GALNACT19; GalNAc-T5L Summary Predicted to enable metal ion binding activity and transferase activity. Involved in spermatid development. Predicted to be located in late endosome membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Restricted expression toward testis (RPKM 6.9) See more Orthologs mouse all
GALNTL6, Official Symbol GALNTL6provided by HGNC Official Full Name polypeptide N-acetylgalactosaminyltransferase like 6provided by HGNC Primary source HGNC:HGNC:33844 See related Ensembl:ENSG00000174473 MIM:615138; AllianceGenome:HGNC:33844 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 GALNT17; GALNACT20; GalNAc-T6L Summary Enables polypeptide N-acetylgalactosaminyltransferase activity. Involved in protein O-linked glycosylation via threonine. Predicted to be located in Golgi membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus. [provided by Alliance of Genome Resources, Apr 2022] Expression Low expression observed in reference dataset See more Orthologs mouse all
GALP, Official Symbol GALPprovided by HGNC Official Full Name galanin like peptideprovided by HGNC Primary source HGNC:HGNC:24840 See related Ensembl:ENSG00000197487 MIM:611178; AllianceGenome:HGNC:24840 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 GAL Summary This gene encodes a member of the galanin family of neuropeptides. The encoded protein binds galanin receptors 1, 2 and 3 with the highest affinity for galanin receptor 3 and has been implicated in biological processes involving the central nervous system including hypothalamic regulation of metabolism and reproduction. A peptide encoded by a splice variant of this gene, termed alarin, has vasoactive properties, displays antimicrobial activity against E. coli, and may serve as a marker for neuroblastic tumors.[provided by RefSeq, Nov 2014] Expression Low expression observed in reference dataset See more Orthologs mouse all
GALR1, Official Symbol GALR1provided by HGNC Official Full Name galanin receptor 1provided by HGNC Primary source HGNC:HGNC:4132 See related Ensembl:ENSG00000166573 MIM:600377; AllianceGenome:HGNC:4132 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 GALNR; GALNR1 Summary The neuropeptide galanin elicits a range of biological effects by interaction with specific G-protein-coupled receptors. Galanin receptors are seven-transmembrane proteins shown to activate a variety of intracellular second-messenger pathways. GALR1 inhibits adenylyl cyclase via a G protein of the Gi/Go family. GALR1 is widely expressed in the brain and spinal cord, as well as in peripheral sites such as the small intestine and heart. [provided by RefSeq, Jul 2008] Expression Biased expression in adrenal (RPKM 1.2), brain (RPKM 0.7) and 7 other tissues See more Orthologs mouse all
GALR2, Official Symbol GALR2provided by HGNC Official Full Name galanin receptor 2provided by HGNC Primary source HGNC:HGNC:4133 See related Ensembl:ENSG00000182687 MIM:603691; AllianceGenome:HGNC:4133 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 GAL2-R; GALNR2; GALR-2 Summary Galanin is an important neuromodulator present in the brain, gastrointestinal system, and hypothalamopituitary axis. It is a 30-amino acid non-C-terminally amidated peptide that potently stimulates growth hormone secretion, inhibits cardiac vagal slowing of heart rate, abolishes sinus arrhythmia, and inhibits postprandial gastrointestinal motility. The actions of galanin are mediated through interaction with specific membrane receptors that are members of the 7-transmembrane family of G protein-coupled receptors. GALR2 interacts with the N-terminal residues of the galanin peptide. The primary signaling mechanism for GALR2 is through the phospholipase C/protein kinase C pathway (via Gq), in contrast to GALR1, which communicates its intracellular signal by inhibition of adenylyl cyclase through Gi. However, it has been demonstrated that GALR2 couples efficiently to both the Gq and Gi proteins to simultaneously activate 2 independent signal transduction pathways. [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
GALR3, Official Symbol GALR3provided by HGNC Official Full Name galanin receptor 3provided by HGNC Primary source HGNC:HGNC:4134 See related Ensembl:ENSG00000128310 MIM:603692; AllianceGenome:HGNC:4134 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary The neuropeptide galanin modulates a variety of physiologic processes including cognition/memory, sensory/pain processing, hormone secretion, and feeding behavior. The human galanin receptors are G protein-coupled receptors that functionally couple to their intracellular effector through distinct signaling pathways. GALR3 is found in many tissues and may be expressed as 1.4-, 2.4-, and 5-kb transcripts [provided by RefSeq, Jul 2008] Expression Low expression observed in reference dataset See more Orthologs mouse all
GALT, Official Symbol GALTprovided by HGNC Official Full Name galactose-1-phosphate uridylyltransferaseprovided by HGNC Primary source HGNC:HGNC:4135 See related Ensembl:ENSG00000213930 MIM:606999; AllianceGenome:HGNC:4135 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] Expression Ubiquitous expression in duodenum (RPKM 23.8), liver (RPKM 21.4) and 25 other tissues See more Orthologs mouse all
GAMT, Official Symbol GAMTprovided by HGNC Official Full Name guanidinoacetate N-methyltransferaseprovided by HGNC Primary source HGNC:HGNC:4136 See related Ensembl:ENSG00000130005 MIM:601240; AllianceGenome:HGNC:4136 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 PIG2; CCDS2; TP53I2; HEL-S-20 Summary The protein encoded by this gene is a methyltransferase that converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in this gene have been implicated in neurologic syndromes and muscular hypotonia, probably due to creatine deficiency and accumulation of guanidinoacetate in the brain of affected individuals. Two transcript variants encoding different isoforms have been described for this gene. Pseudogenes of this gene are found on chromosomes 2 and 13. [provided by RefSeq, Feb 2012] Expression Broad expression in liver (RPKM 37.8), pancreas (RPKM 12.2) and 15 other tissues See more Orthologs mouse all
GAMTP2, Official Symbol GAMTP2provided by HGNC Official Full Name guanidinoacetate N-methyltransferase pseudogene 2provided by HGNC Primary source HGNC:HGNC:37697 See related Ensembl:ENSG00000231910 AllianceGenome:HGNC:37697 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo