psui3905/ncbi_genes_summary huggingface dataset:
AZGP1, Official Symbol AZGP1provided by HGNC Official Full Name alpha-2-glycoprotein 1, zinc-bindingprovided by HGNC Primary source HGNC:HGNC:910 See related Ensembl:ENSG00000160862 MIM:194460; AllianceGenome:HGNC:910 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 ZAG; ZA2G Summary Involved in cell adhesion and detection of chemical stimulus involved in sensory perception of bitter taste. Located in extracellular space. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in salivary gland (RPKM 748.1), liver (RPKM 688.6) and 5 other tissues See more Orthologs mouse all
AZGP1P1, Official Symbol AZGP1P1provided by HGNC Official Full Name AZGP1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:911 See related Ensembl:ENSG00000291148 AllianceGenome:HGNC:911 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in liver (RPKM 5.5), prostate (RPKM 3.4) and 4 other tissues See more
AZGP1P2, Official Symbol AZGP1P2provided by HGNC Official Full Name AZGP1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:912 See related Ensembl:ENSG00000214252 AllianceGenome:HGNC:912 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
AZI2, Official Symbol AZI2provided by HGNC Official Full Name 5-azacytidine induced 2provided by HGNC Primary source HGNC:HGNC:24002 See related Ensembl:ENSG00000163512 MIM:609916; AllianceGenome:HGNC:24002 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 AZ2; NAP1; TILP Summary AZI2, or NAP1, contributes to the activation of NFKB (see MIM 164011)-dependent gene expression by activating IKK-related kinases, such as NAK (TBK1; MIM 604834) (Fujita et al., 2003 [PubMed 14560022]).[supplied by OMIM, Mar 2008] Expression Ubiquitous expression in fat (RPKM 22.5), thyroid (RPKM 15.3) and 25 other tissues See more Orthologs mouse all
AZIN1, Official Symbol AZIN1provided by HGNC Official Full Name antizyme inhibitor 1provided by HGNC Primary source HGNC:HGNC:16432 See related Ensembl:ENSG00000155096 MIM:607909; AllianceGenome:HGNC:16432 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 AZI; AZI1; OAZI; AZIA1; OAZIN; ODC1L Summary The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 1, the first member of this gene family that is ubiquitously expressed, and is localized in the nucleus and cytoplasm. Overexpression of antizyme inhibitor 1 gene has been associated with increased proliferation, cellular transformation and tumorigenesis. Gene knockout studies showed that homozygous mutant mice lacking functional antizyme inhibitor 1 gene died at birth with abnormal liver morphology. RNA editing of this gene, predominantly in the liver tissue, has been linked to the progression of hepatocellular carcinoma. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014] Expression Ubiquitous expression in brain (RPKM 50.0), bone marrow (RPKM 45.4) and 25 other tissues See more Orthologs mouse all
AZIN2, Official Symbol AZIN2provided by HGNC Official Full Name antizyme inhibitor 2provided by HGNC Primary source HGNC:HGNC:29957 See related Ensembl:ENSG00000142920 MIM:608353; AllianceGenome:HGNC:29957 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 ADC; AZI2; ODCp; AZIB1; ODC-p; ODC1L Summary The protein encoded by this gene belongs to the antizyme inhibitor family, which plays a role in cell growth and proliferation by maintaining polyamine homeostasis within the cell. Antizyme inhibitors are homologs of ornithine decarboxylase (ODC, the key enzyme in polyamine biosynthesis) that have lost the ability to decarboxylase ornithine; however, retain the ability to bind to antizymes. Antizymes negatively regulate intracellular polyamine levels by binding to ODC and targeting it for degradation, as well as by inhibiting polyamine uptake. Antizyme inhibitors function as positive regulators of polyamine levels by sequestering antizymes and neutralizing their effect. This gene encodes antizyme inhibitor 2, the second member of this gene family. Like antizyme inhibitor 1, antizyme inhibitor 2 interacts with all 3 antizymes and stimulates ODC activity and polyamine uptake. However, unlike antizyme inhibitor 1, which is ubiquitously expressed and localized in the nucleus and cytoplasm, antizyme inhibitor 2 is predominantly expressed in the brain and testis and localized in the endoplasmic reticulum-golgi intermediate compartment. Recent studies indicate that antizyme inhibitor 2 is also expressed in specific cell types in ovaries, adrenal glands and pancreas, and in mast cells. The exact function of this gene is not known, however, available data suggest its role in cell growth, spermiogenesis, vesicular trafficking and secretion. Accumulation of antizyme inhibitor 2 has also been observed in brains of patients with Alzheimer's disease. There has been confusion in literature and databases over the nomenclature of this gene, stemming from an earlier report that a human cDNA clone (identical to ODCp/AZIN2) had arginine decarboxylase (ADC) activity (PMID:14738999). Subsequent studies in human and mouse showed that antizyme inhibitor 2 was devoid of arginine decarboxylase activity (PMID:19956990). Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Sep 2014] Expression Broad expression in testis (RPKM 8.2), brain (RPKM 4.1) and 15 other tissues See more Orthologs mouse all
AZU1, Official Symbol AZU1provided by HGNC Official Full Name azurocidin 1provided by HGNC Primary source HGNC:HGNC:913 See related Ensembl:ENSG00000172232 MIM:162815; AllianceGenome:HGNC:913 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 AZU; HBP; NAZC; hHBP; AZAMP; CAP37; HUMAZUR Summary Azurophil granules, specialized lysosomes of the neutrophil, contain at least 10 proteins implicated in the killing of microorganisms. This gene encodes a preproprotein that is proteolytically processed to generate a mature azurophil granule antibiotic protein, with monocyte chemotactic and antimicrobial activity. It is also an important multifunctional inflammatory mediator. This encoded protein is a member of the serine protease gene family but it is not a serine proteinase, because the active site serine and histidine residues are replaced. The genes encoding this protein, neutrophil elastase 2, and proteinase 3 are in a cluster located at chromosome 19pter. All 3 genes are expressed coordinately and their protein products are packaged together into azurophil granules during neutrophil differentiation. [provided by RefSeq, Nov 2015] Expression Restricted expression toward bone marrow (RPKM 1256.4) See more Orthologs all
AZU1P1, Official Symbol AZU1P1provided by HGNC Official Full Name azurocidin 1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:49098 See related Ensembl:ENSG00000270444 AllianceGenome:HGNC:49098 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
B2M, Official Symbol B2Mprovided by HGNC Official Full Name beta-2-microglobulinprovided by HGNC Primary source HGNC:HGNC:914 See related Ensembl:ENSG00000166710 MIM:109700; AllianceGenome:HGNC:914 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 IMD43 Summary This gene encodes a serum protein found in association with the major histocompatibility complex (MHC) class I heavy chain on the surface of nearly all nucleated cells. The protein has a predominantly beta-pleated sheet structure that can form amyloid fibrils in some pathological conditions. The encoded antimicrobial protein displays antibacterial activity in amniotic fluid. A mutation in this gene has been shown to result in hypercatabolic hypoproteinemia.[provided by RefSeq, Aug 2014] Expression Ubiquitous expression in spleen (RPKM 1527.0), lymph node (RPKM 1335.3) and 24 other tissues See more Orthologs mouse all
B3GALNT1, Official Symbol B3GALNT1provided by HGNC Official Full Name beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group)provided by HGNC Primary source HGNC:HGNC:918 See related Ensembl:ENSG00000169255 MIM:603094; AllianceGenome:HGNC:918 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 P1; GLOB; GLCT3; galT3; Gb4Cer; B3GALT3; B3GALANT1; beta3Gal-T3 Summary This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). The encoded protein of this gene does not use N-acetylglucosamine as an acceptor sugar at all. [provided by RefSeq, Mar 2017] Expression Broad expression in heart (RPKM 13.1), thyroid (RPKM 10.2) and 24 other tissues See more Orthologs mouse all
B3GALNT2, Official Symbol B3GALNT2provided by HGNC Official Full Name beta-1,3-N-acetylgalactosaminyltransferase 2provided by HGNC Primary source HGNC:HGNC:28596 See related Ensembl:ENSG00000162885 MIM:610194; AllianceGenome:HGNC:28596 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 MDDGA11; B3GalNAc-T2 Summary This gene encodes a member of the glycosyltransferase 31 family. The encoded protein synthesizes GalNAc:beta-1,3GlcNAc, a novel carbohydrate structure, on N- and O-glycans. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2013] Expression Ubiquitous expression in prostate (RPKM 6.9), esophagus (RPKM 6.9) and 25 other tissues See more Orthologs mouse all
B3GALNT2P1, Official Symbol B3GALNT2P1provided by HGNC Official Full Name beta-1,3-N-acetylgalactosaminyltransferase 2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51315 See related AllianceGenome:HGNC:51315 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
B3GALT1, Official Symbol B3GALT1provided by HGNC Official Full Name beta-1,3-galactosyltransferase 1provided by HGNC Primary source HGNC:HGNC:916 See related Ensembl:ENSG00000172318 MIM:603093; AllianceGenome:HGNC:916 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 beta3Gal-T1 Summary This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is expressed exclusively in the brain. The encoded protein shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008] Expression Biased expression in colon (RPKM 1.2), brain (RPKM 0.9) and 2 other tissues See more Orthologs mouse all
B3GALT1-AS1, Official Symbol B3GALT1-AS1provided by HGNC Official Full Name B3GALT1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40089 See related Ensembl:ENSG00000235335 AllianceGenome:HGNC:40089 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in colon (RPKM 3.5), brain (RPKM 2.8) and 1 other tissue See more
B3GALT2, Official Symbol B3GALT2provided by HGNC Official Full Name beta-1,3-galactosyltransferase 2provided by HGNC Primary source HGNC:HGNC:917 See related Ensembl:ENSG00000162630 MIM:603018; AllianceGenome:HGNC:917 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 GLCT2; BETA3GALT2; beta3Gal-T2 Summary This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene encodes a protein that functions in N-linked glycoprotein glycosylation and shows strict donor substrate specificity for UDP-galactose. [provided by RefSeq, Jul 2008] Expression Biased expression in gall bladder (RPKM 11.6), brain (RPKM 11.4) and 11 other tissues See more Orthologs mouse all
B3GALT4, Official Symbol B3GALT4provided by HGNC Official Full Name beta-1,3-galactosyltransferase 4provided by HGNC Primary source HGNC:HGNC:919 See related Ensembl:ENSG00000235863 MIM:603095; AllianceGenome:HGNC:919 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 GALT2; GALT4; BETA3GALT4 Summary This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and different acceptor sugars (N-acetylglucosamine, galactose, N-acetylgalactosamine). The beta3GalT genes are distantly related to the Drosophila Brainiac gene and have the protein coding sequence contained in a single exon. The beta3GalT proteins also contain conserved sequences not found in the beta4GalT or alpha3GalT proteins. The carbohydrate chains synthesized by these enzymes are designated as type 1, whereas beta4GalT enzymes synthesize type 2 carbohydrate chains. The ratio of type 1:type 2 chains changes during embryogenesis. By sequence similarity, the beta3GalT genes fall into at least two groups: beta3GalT4 and 4 other beta3GalT genes (beta3GalT1-3, beta3GalT5). This gene is oriented telomere to centromere in close proximity to the ribosomal protein S18 gene. The functionality of the encoded protein is limited to ganglioseries glycolipid biosynthesis. [provided by RefSeq, Jul 2008] Orthologs mouse all
B3GALT5, Official Symbol B3GALT5provided by HGNC Official Full Name beta-1,3-galactosyltransferase 5provided by HGNC Primary source HGNC:HGNC:920 See related Ensembl:ENSG00000183778 MIM:604066; AllianceGenome:HGNC:920 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 B3T5; GLCT5; B3GalTx; B3GalT-V; beta3Gal-T5; beta-3-Gx-T5; beta-1,3-GalTase 5 Summary This gene encodes a member of a family of membrane-bound glycoproteins. The encoded protein may synthesize type 1 Lewis antigens, which are elevated in gastrointestinal and pancreatic cancers. Alternatively spliced transcript variants using multiple alternate promoters have been observed for this gene. [provided by RefSeq, Sep 2017] Expression Biased expression in small intestine (RPKM 5.1), colon (RPKM 4.2) and 3 other tissues See more Orthologs mouse all
B3GALT6, Official Symbol B3GALT6provided by HGNC Official Full Name beta-1,3-galactosyltransferase 6provided by HGNC Primary source HGNC:HGNC:17978 See related Ensembl:ENSG00000176022 MIM:615291; AllianceGenome:HGNC:17978 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 ALGAZ; EDSP2; EDSSPD2; SEMDJL1; beta3GalT6 Summary The enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013] Orthologs mouse all
B3GALT9, Official Symbol B3GALT9provided by HGNC Official Full Name beta-1,3-galactosyltransferase 9provided by HGNC Primary source HGNC:HGNC:53652 See related Ensembl:ENSG00000214654 MIM:620239; AllianceGenome:HGNC:53652 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 B3GNT10 Summary Predicted to enable glycosyltransferase activity. Predicted to be involved in protein glycosylation. Predicted to be integral component of membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 2.0), testis (RPKM 1.7) and 25 other tissues See more Orthologs mouse all
B3GAT1, Official Symbol B3GAT1provided by HGNC Official Full Name beta-1,3-glucuronyltransferase 1provided by HGNC Primary source HGNC:HGNC:921 See related Ensembl:ENSG00000109956 MIM:151290; AllianceGenome:HGNC:921 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 NK1; CD57; HNK1; LEU7; NK-1; GLCATP; GLCUATP Summary The protein encoded by this gene is a member of the glucuronyltransferase gene family. These enzymes exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product functions as the key enzyme in a glucuronyl transfer reaction during the biosynthesis of the carbohydrate epitope HNK-1 (human natural killer-1, also known as CD57 and LEU7). Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 22.6), thyroid (RPKM 2.5) and 2 other tissues See more Orthologs mouse all
B3GAT1-DT, Official Symbol B3GAT1-DTprovided by HGNC Official Full Name B3GAT1 divergent transcriptprovided by HGNC Primary source HGNC:HGNC:27449 See related Ensembl:ENSG00000255545 AllianceGenome:HGNC:27449 Gene type ncRNA RefSeq status PREDICTED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Biased expression in kidney (RPKM 1.1), small intestine (RPKM 1.1) and 13 other tissues See more
B3GAT2, Official Symbol B3GAT2provided by HGNC Official Full Name beta-1,3-glucuronyltransferase 2provided by HGNC Primary source HGNC:HGNC:922 See related Ensembl:ENSG00000112309 MIM:607497; AllianceGenome:HGNC:922 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 GLCATS Summary The product of this gene is a transmembrane protein belonging to the glucuronyltransferase family, and catalyzes the transfer of a beta-1,3 linked glucuronic acid to a terminal galactose in different glycoproteins or glycolipids containing a Gal-beta-1-4GlcNAc or Gal-beta-1-3GlcNAc residue. The encoded protein is involved in the synthesis of the human natural killer-1 (HNK-1) carbohydrate epitope, a sulfated trisaccharide implicated in cellular migration and adhesion in the nervous system. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in brain (RPKM 8.3), duodenum (RPKM 3.6) and 25 other tissues See more Orthologs mouse all
B3GAT3, Official Symbol B3GAT3provided by HGNC Official Full Name beta-1,3-glucuronyltransferase 3provided by HGNC Primary source HGNC:HGNC:923 See related Ensembl:ENSG00000149541 MIM:606374; AllianceGenome:HGNC:923 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 JDSCD; GLCATI; glcUAT-I Summary The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013] Expression Ubiquitous expression in brain (RPKM 10.1), lymph node (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
B3GLCT, Official Symbol B3GLCTprovided by HGNC Official Full Name beta 3-glucosyltransferaseprovided by HGNC Primary source HGNC:HGNC:20207 See related Ensembl:ENSG00000187676 MIM:610308; AllianceGenome:HGNC:20207 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 B3GTL; Gal-T; B3GALTL; B3Glc-T; beta3Glc-T Summary The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009] Expression Ubiquitous expression in heart (RPKM 6.7), endometrium (RPKM 5.7) and 25 other tissues See more Orthologs mouse all
B3GNT2, Official Symbol B3GNT2provided by HGNC Official Full Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2provided by HGNC Primary source HGNC:HGNC:15629 See related Ensembl:ENSG00000170340 MIM:605581; AllianceGenome:HGNC:15629 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 B3GNT; BGNT2; B3GNT1; BGnT-2; beta-1; 3-Gn-T1; 3-Gn-T2; B3GN-T2; B3GNT-2; BETA3GNT; beta3Gn-T1; beta3Gn-T2 Summary This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein. It prefers the substrate of lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jan 2016] Expression Ubiquitous expression in bone marrow (RPKM 26.9), lung (RPKM 19.0) and 25 other tissues See more Orthologs mouse all
B3GNT3, Official Symbol B3GNT3provided by HGNC Official Full Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3provided by HGNC Primary source HGNC:HGNC:13528 See related Ensembl:ENSG00000179913 MIM:605863; AllianceGenome:HGNC:13528 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 TMEM3; B3GN-T3; B3GNT-3; HP10328; B3GAL-T8; beta3Gn-T3 Summary This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II transmembrane protein and contains a signal anchor that is not cleaved. It prefers the substrates of lacto-N-tetraose and lacto-N-neotetraose, and is involved in the biosynthesis of poly-N-acetyllactosamine chains and the biosynthesis of the backbone structure of dimeric sialyl Lewis a. It plays dominant roles in L-selectin ligand biosynthesis, lymphocyte homing and lymphocyte trafficking. [provided by RefSeq, Jul 2008] Expression Biased expression in colon (RPKM 28.2), stomach (RPKM 18.5) and 9 other tissues See more Orthologs mouse all
B3GNT4, Official Symbol B3GNT4provided by HGNC Official Full Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4provided by HGNC Primary source HGNC:HGNC:15683 See related Ensembl:ENSG00000176383 MIM:605864; AllianceGenome:HGNC:15683 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 B3GN-T4; beta3Gn-T4 Summary This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase protein family. The encoded enzyme is involved in the biosynthesis of poly-N-acetyllactosamine chains and prefers lacto-N-neotetraose as a substrate. It is a type II transmembrane protein. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 5.5), kidney (RPKM 3.8) and 25 other tissues See more Orthologs mouse all
B3GNT5, Official Symbol B3GNT5provided by HGNC Official Full Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5provided by HGNC Primary source HGNC:HGNC:15684 See related Ensembl:ENSG00000176597 MIM:615333; AllianceGenome:HGNC:15684 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 B3GN-T5; beta3Gn-T5 Summary This gene encodes a member of the beta-1,3-N-acetylglucosaminyltransferase family. This enzyme is a type II membrane protein. It exhibits strong activity to transfer GlcNAc to glycolipid substrates and is identified as the most likely candidate for lactotriaosylceramide synthase. This enzyme is essential for the expression of Lewis X epitopes on glycolipids. [provided by RefSeq, Jul 2008] Expression Broad expression in bone marrow (RPKM 17.8), small intestine (RPKM 13.8) and 20 other tissues See more Orthologs mouse all
B3GNT6, Official Symbol B3GNT6provided by HGNC Official Full Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6provided by HGNC Primary source HGNC:HGNC:24141 See related Ensembl:ENSG00000198488 MIM:615315; AllianceGenome:HGNC:24141 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 BGnT-6; B3Gn-T6; beta3Gn-T6; beta-1,3-Gn-T6 Summary The protein encoded by this gene is a beta-1,3-N-acetylglucosaminyltransferase that adds an N-acetylglucosamine moiety to N-acetylgalactosamine-modified serine or threonine. The encoded enzyme is responsible for creating the core 3 structure of O-glycans, which are important components of mucin-type glycoproteins. [provided by RefSeq, Dec 2016] Expression Biased expression in colon (RPKM 17.5), stomach (RPKM 11.9) and 4 other tissues See more Orthologs mouse all
B3GNT7, Official Symbol B3GNT7provided by HGNC Official Full Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7provided by HGNC Primary source HGNC:HGNC:18811 See related Ensembl:ENSG00000156966 MIM:615313; AllianceGenome:HGNC:18811 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 beta3GnT7 Summary Predicted to enable UDP-glycosyltransferase activity. Predicted to be involved in poly-N-acetyllactosamine biosynthetic process. Predicted to be integral component of membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in colon (RPKM 27.4), stomach (RPKM 7.8) and 8 other tissues See more Orthologs mouse all
B3GNT8, Official Symbol B3GNT8provided by HGNC Official Full Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8provided by HGNC Primary source HGNC:HGNC:24139 See related Ensembl:ENSG00000177191 MIM:615357; AllianceGenome:HGNC:24139 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 B3GALT7; BGALT15; beta3Gn-T8 Summary Enables protein N-acetylglucosaminyltransferase activity. Involved in poly-N-acetyllactosamine biosynthetic process. Located in extracellular exosome. [provided by Alliance of Genome Resources, Apr 2022] Expression Broad expression in small intestine (RPKM 4.8), duodenum (RPKM 4.7) and 15 other tissues See more Orthologs mouse all
B3GNT9, Official Symbol B3GNT9provided by HGNC Official Full Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9provided by HGNC Primary source HGNC:HGNC:28714 See related Ensembl:ENSG00000237172 AllianceGenome:HGNC:28714 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Predicted to enable UDP-glycosyltransferase activity. Predicted to be involved in poly-N-acetyllactosamine biosynthetic process. Predicted to be integral component of membrane. Predicted to be active in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 14.2), prostate (RPKM 9.2) and 25 other tissues See more Orthologs mouse all
B3GNTL1, Official Symbol B3GNTL1provided by HGNC Official Full Name UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1provided by HGNC Primary source HGNC:HGNC:21727 See related Ensembl:ENSG00000175711 MIM:615337; AllianceGenome:HGNC:21727 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 B3GNT8; BGnT-8; beta-1; 3-Gn-T8; beta3Gn-T8; beta3GnTL1 Summary Predicted to enable glycosyltransferase activity. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in bone marrow (RPKM 1.9), skin (RPKM 1.8) and 25 other tissues See more Orthologs mouse all
B3GNTL1P1, Official Symbol B3GNTL1P1provided by HGNC Official Full Name B3GNTL1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51317 See related Ensembl:ENSG00000251237 AllianceGenome:HGNC:51317 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
B3GNTL1P2, Official Symbol B3GNTL1P2provided by HGNC Official Full Name B3GNTL1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:51318 See related Ensembl:ENSG00000271328 AllianceGenome:HGNC:51318 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
B4GALNT1, Official Symbol B4GALNT1provided by HGNC Official Full Name beta-1,4-N-acetyl-galactosaminyltransferase 1provided by HGNC Primary source HGNC:HGNC:4117 See related Ensembl:ENSG00000135454 MIM:601873; AllianceGenome:HGNC:4117 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 GALGT; SPG26; GALNACT; GalNAc-T Summary GM2 and GD2 gangliosides are sialic acid-containing glycosphingolipids. GalNAc-T is the enzyme involved in the biosynthesis of G(M2) and G(D2) glycosphingolipids. GalNAc-T catalyzes the transfer of GalNAc into G(M3) and G(D3) by a beta-1,4 linkage, resulting in the synthesis of G(M2) and G(D2), respectively. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2013] Expression Broad expression in brain (RPKM 8.2), endometrium (RPKM 1.8) and 16 other tissues See more Orthologs mouse all
B4GALNT2, Official Symbol B4GALNT2provided by HGNC Official Full Name beta-1,4-N-acetyl-galactosaminyltransferase 2provided by HGNC Primary source HGNC:HGNC:24136 See related Ensembl:ENSG00000167080 MIM:111730; AllianceGenome:HGNC:24136 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 B4GALT; GALGT2 Summary B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]).[supplied by OMIM, Mar 2008] Expression Biased expression in colon (RPKM 11.5), kidney (RPKM 5.5) and 4 other tissues See more Orthologs mouse all
B4GALNT2P1, Official Symbol B4GALNT2P1provided by HGNC Official Full Name B4GALNT2 pseudogene 1provided by HGNC Primary source HGNC:HGNC:51319 See related Ensembl:ENSG00000248883 AllianceGenome:HGNC:51319 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
B4GALNT3, Official Symbol B4GALNT3provided by HGNC Official Full Name beta-1,4-N-acetyl-galactosaminyltransferase 3provided by HGNC Primary source HGNC:HGNC:24137 See related Ensembl:ENSG00000139044 MIM:612220; AllianceGenome:HGNC:24137 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary B4GALNT3 transfers N-acetylgalactosamine (GalNAc) onto glucosyl residues to form N,N-prime-diacetyllactosediamine (LacdiNAc, or LDN), a unique terminal structure of cell surface N-glycans (Ikehara et al., 2006 [PubMed 16728562]).[supplied by OMIM, Aug 2008] Expression Biased expression in stomach (RPKM 33.1), colon (RPKM 16.3) and 11 other tissues See more Orthologs mouse all
B4GALNT4, Official Symbol B4GALNT4provided by HGNC Official Full Name beta-1,4-N-acetyl-galactosaminyltransferase 4provided by HGNC Primary source HGNC:HGNC:26315 See related Ensembl:ENSG00000182272 MIM:618560; AllianceGenome:HGNC:26315 Gene type protein coding RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Summary Enables acetylgalactosaminyltransferase activity. Predicted to be located in Golgi cisterna membrane. Predicted to be integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in brain (RPKM 7.9), ovary (RPKM 4.2) and 5 other tissues See more Orthologs mouse all
B4GALT1, Official Symbol B4GALT1provided by HGNC Official Full Name beta-1,4-galactosyltransferase 1provided by HGNC Primary source HGNC:HGNC:924 See related Ensembl:ENSG00000086062 MIM:137060; AllianceGenome:HGNC:924 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 GT1; GTB; CDG2D; GGTB2; CLDLFIB; B4GAL-T1; beta4Gal-T1 Summary This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene is unique among the beta4GalT genes because it encodes an enzyme that participates both in glycoconjugate and lactose biosynthesis. For the first activity, the enzyme adds galactose to N-acetylglucosamine residues that are either monosaccharides or the nonreducing ends of glycoprotein carbohydrate chains. The second activity is restricted to lactating mammary tissues where the enzyme forms a heterodimer with alpha-lactalbumin to catalyze UDP-galactose + D-glucose <=> UDP + lactose. The two enzymatic forms result from alternate transcription initiation sites and post-translational processing. Two transcripts, which differ only at the 5' end, with approximate lengths of 4.1 kb and 3.9 kb encode the same protein. The longer transcript encodes the type II membrane-bound, trans-Golgi resident protein involved in glycoconjugate biosynthesis. The shorter transcript encodes a protein which is cleaved to form the soluble lactose synthase. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 45.3), gall bladder (RPKM 35.7) and 25 other tissues See more Orthologs mouse all
B4GALT1-AS1, Official Symbol B4GALT1-AS1provided by HGNC Official Full Name B4GALT1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:49910 See related AllianceGenome:HGNC:49910 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 Broad expression in testis (RPKM 7.8), fat (RPKM 3.3) and 22 other tissues See more
B4GALT2, Official Symbol B4GALT2provided by HGNC Official Full Name beta-1,4-galactosyltransferase 2provided by HGNC Primary source HGNC:HGNC:925 See related Ensembl:ENSG00000117411 MIM:604013; AllianceGenome:HGNC:925 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 B4Gal-T2; B4Gal-T3; beta4Gal-T2 Summary This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene synthesizes N-acetyllactosamine in glycolipids and glycoproteins. Its substrate specificity is affected by alpha-lactalbumin but it is not expressed in lactating mammary tissue. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2011] Expression Ubiquitous expression in brain (RPKM 14.6), fat (RPKM 11.8) and 25 other tissues See more Orthologs mouse all
B4GALT3, Official Symbol B4GALT3provided by HGNC Official Full Name beta-1,4-galactosyltransferase 3provided by HGNC Primary source HGNC:HGNC:926 See related Ensembl:ENSG00000158850 MIM:604014; AllianceGenome:HGNC:926 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 beta4Gal-T3 Summary This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. This gene encodes an enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010] Expression Ubiquitous expression in placenta (RPKM 11.2), testis (RPKM 11.2) and 25 other tissues See more Orthologs mouse all
B4GALT4, Official Symbol B4GALT4provided by HGNC Official Full Name beta-1,4-galactosyltransferase 4provided by HGNC Primary source HGNC:HGNC:927 See related Ensembl:ENSG00000121578 MIM:604015; AllianceGenome:HGNC:927 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 B4Gal-T4; beta4Gal-T4 Summary This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in gall bladder (RPKM 16.8), colon (RPKM 15.3) and 25 other tissues See more Orthologs mouse all
B4GALT4-AS1, Official Symbol B4GALT4-AS1provided by HGNC Official Full Name B4GALT4 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40090 See related Ensembl:ENSG00000240254 AllianceGenome:HGNC:40090 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 Ubiquitous expression in urinary bladder (RPKM 13.6), duodenum (RPKM 12.4) and 25 other tissues See more