psui3905/ncbi_genes_summary huggingface dataset:
ALDH1A2, Official Symbol ALDH1A2provided by HGNC Official Full Name aldehyde dehydrogenase 1 family member A2provided by HGNC Primary source HGNC:HGNC:15472 See related Ensembl:ENSG00000128918 MIM:603687; AllianceGenome:HGNC:15472 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 DIH4; RALDH2; RALDH2-T; RALDH(II) Summary This protein belongs to the aldehyde dehydrogenase family of proteins. The product of this gene is an enzyme that catalyzes the synthesis of retinoic acid (RA) from retinaldehyde. Retinoic acid, the active derivative of vitamin A (retinol), is a hormonal signaling molecule that functions in developing and adult tissues. The studies of a similar mouse gene suggest that this enzyme and the cytochrome CYP26A1, concurrently establish local embryonic retinoic acid levels which facilitate posterior organ development and prevent spina bifida. Four transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, May 2011] Expression Biased expression in endometrium (RPKM 50.6), testis (RPKM 38.7) and 8 other tissues See more Orthologs mouse all
ALDH1A3, Official Symbol ALDH1A3provided by HGNC Official Full Name aldehyde dehydrogenase 1 family member A3provided by HGNC Primary source HGNC:HGNC:409 See related Ensembl:ENSG00000184254 MIM:600463; AllianceGenome:HGNC:409 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 ALDH6; MCOP8; RALDH3; ALDH1A6 Summary This gene encodes an aldehyde dehydrogenase enzyme that uses retinal as a substrate. Mutations in this gene have been associated with microphthalmia, isolated 8, and expression changes have also been detected in tumor cells. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014] Expression Broad expression in prostate (RPKM 82.4), urinary bladder (RPKM 32.4) and 14 other tissues See more Orthologs mouse all
ALDH1B1, Official Symbol ALDH1B1provided by HGNC Official Full Name aldehyde dehydrogenase 1 family member B1provided by HGNC Primary source HGNC:HGNC:407 See related Ensembl:ENSG00000137124 MIM:100670; AllianceGenome:HGNC:407 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 ALDH5; ALDHX Summary This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008] Expression Broad expression in liver (RPKM 58.4), kidney (RPKM 38.9) and 19 other tissues See more Orthologs mouse all
ALDH1L1, Official Symbol ALDH1L1provided by HGNC Official Full Name aldehyde dehydrogenase 1 family member L1provided by HGNC Primary source HGNC:HGNC:3978 See related Ensembl:ENSG00000144908 MIM:600249; AllianceGenome:HGNC:3978 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 FDH; FTHFD; 10-fTHF; 10-FTHFDH Summary The protein encoded by this gene catalyzes the conversion of 10-formyltetrahydrofolate, nicotinamide adenine dinucleotide phosphate (NADP+), and water to tetrahydrofolate, NADPH, and carbon dioxide. The encoded protein belongs to the aldehyde dehydrogenase family. Loss of function or expression of this gene is associated with decreased apoptosis, increased cell motility, and cancer progression. There is an antisense transcript that overlaps on the opposite strand with this gene locus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2012] Expression Biased expression in liver (RPKM 99.3), kidney (RPKM 65.2) and 8 other tissues See more Orthologs mouse all
ALDH1L1-AS1, Official Symbol ALDH1L1-AS1provided by HGNC Official Full Name ALDH1L1 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:40244 See related Ensembl:ENSG00000250218 AllianceGenome:HGNC:40244 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 liver (RPKM 28.8), fat (RPKM 8.7) and 8 other tissues See more
ALDH1L1-AS2, Official Symbol ALDH1L1-AS2provided by HGNC Official Full Name ALDH1L1 antisense RNA 2provided by HGNC Primary source HGNC:HGNC:42446 See related Ensembl:ENSG00000246022 AllianceGenome:HGNC:42446 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 fat (RPKM 4.2), kidney (RPKM 2.9) and 9 other tissues See more
ALDH1L2, Official Symbol ALDH1L2provided by HGNC Official Full Name aldehyde dehydrogenase 1 family member L2provided by HGNC Primary source HGNC:HGNC:26777 See related Ensembl:ENSG00000136010 MIM:613584; AllianceGenome:HGNC:26777 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 mtFDH Summary This gene encodes a member of both the aldehyde dehydrogenase superfamily and the formyl transferase superfamily. This member is the mitochondrial form of 10-formyltetrahydrofolate dehydrogenase (FDH), which converts 10-formyltetrahydrofolate to tetrahydrofolate and CO2 in an NADP(+)-dependent reaction, and plays an essential role in the distribution of one-carbon groups between the cytosolic and mitochondrial compartments of the cell. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Oct 2010] Expression Ubiquitous expression in pancreas (RPKM 5.6), salivary gland (RPKM 2.9) and 22 other tissues See more Orthologs mouse all
ALDH2, Official Symbol ALDH2provided by HGNC Official Full Name aldehyde dehydrogenase 2 family memberprovided by HGNC Primary source HGNC:HGNC:404 See related Ensembl:ENSG00000111275 MIM:100650; AllianceGenome:HGNC:404 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 ALDM; ALDHI; ALDH-E2 Summary This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of East Asians have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among East Asians than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Nov 2016] Expression Broad expression in fat (RPKM 510.6), liver (RPKM 492.8) and 19 other tissues See more Orthologs mouse all
ALDH3A1, Official Symbol ALDH3A1provided by HGNC Official Full Name aldehyde dehydrogenase 3 family member A1provided by HGNC Primary source HGNC:HGNC:405 See related Ensembl:ENSG00000108602 MIM:100660; AllianceGenome:HGNC:405 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 ALDH3; ALDHIII Summary Aldehyde dehydrogenases oxidize various aldehydes to the corresponding acids. They are involved in the detoxification of alcohol-derived acetaldehyde and in the metabolism of corticosteroids, biogenic amines, neurotransmitters, and lipid peroxidation. The enzyme encoded by this gene forms a cytoplasmic homodimer that preferentially oxidizes aromatic and medium-chain (6 carbons or more) saturated and unsaturated aldehyde substrates. It is thought to promote resistance to UV and 4-hydroxy-2-nonenal-induced oxidative damage in the cornea. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2008] Expression Biased expression in esophagus (RPKM 74.7), stomach (RPKM 49.1) and 1 other tissue See more Orthologs mouse all
ALDH3A2, Official Symbol ALDH3A2provided by HGNC Official Full Name aldehyde dehydrogenase 3 family member A2provided by HGNC Primary source HGNC:HGNC:403 See related Ensembl:ENSG00000072210 MIM:609523; AllianceGenome:HGNC:403 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 SLS; FALDH; ALDH10 Summary Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutations in the gene cause Sjogren-Larsson syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] Expression Broad expression in skin (RPKM 108.4), adrenal (RPKM 94.0) and 22 other tissues See more Orthologs all
ALDH3B1, Official Symbol ALDH3B1provided by HGNC Official Full Name aldehyde dehydrogenase 3 family member B1provided by HGNC Primary source HGNC:HGNC:410 See related Ensembl:ENSG00000006534 MIM:600466; AllianceGenome:HGNC:410 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 ALDH4; ALDH7 Summary This gene encodes a member of the aldehyde dehydrogenase protein family. Aldehyde dehydrogenases are a family of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The encoded protein is able to oxidize long-chain fatty aldehydes in vitro, and may play a role in protection from oxidative stress. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014] Expression Broad expression in lung (RPKM 26.2), bone marrow (RPKM 14.3) and 17 other tissues See more Orthologs mouse all
ALDH3B2, Official Symbol ALDH3B2provided by HGNC Official Full Name aldehyde dehydrogenase 3 family member B2provided by HGNC Primary source HGNC:HGNC:411 See related Ensembl:ENSG00000132746 MIM:601917; AllianceGenome:HGNC:411 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 ALDH8 Summary This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10 kb in length. Altered methylation patterns at this locus have been observed in spermatozoa derived from patients exhibiting reduced fecundity. [provided by RefSeq, Aug 2017] Expression Biased expression in skin (RPKM 44.3), esophagus (RPKM 44.2) and 3 other tissues See more Orthologs all
ALDH4A1, Official Symbol ALDH4A1provided by HGNC Official Full Name aldehyde dehydrogenase 4 family member A1provided by HGNC Primary source HGNC:HGNC:406 See related Ensembl:ENSG00000159423 MIM:606811; AllianceGenome:HGNC:406 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 P5CD; ALDH4; P5CDh Summary This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009] Expression Biased expression in kidney (RPKM 122.2), liver (RPKM 68.8) and 8 other tissues See more Orthologs mouse all
ALDH5A1, Official Symbol ALDH5A1provided by HGNC Official Full Name aldehyde dehydrogenase 5 family member A1provided by HGNC Primary source HGNC:HGNC:408 See related Ensembl:ENSG00000112294 MIM:610045; AllianceGenome:HGNC:408 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 SSDH; SSADH Summary This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in liver (RPKM 26.0), brain (RPKM 18.3) and 23 other tissues See more Orthologs mouse all
ALDH6A1, Official Symbol ALDH6A1provided by HGNC Official Full Name aldehyde dehydrogenase 6 family member A1provided by HGNC Primary source HGNC:HGNC:7179 See related Ensembl:ENSG00000119711 MIM:603178; AllianceGenome:HGNC:7179 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 MMSDH; MMSADHA Summary This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013] Expression Biased expression in kidney (RPKM 142.3), liver (RPKM 67.8) and 11 other tissues See more Orthologs mouse all
ALDH7A1, Official Symbol ALDH7A1provided by HGNC Official Full Name aldehyde dehydrogenase 7 family member A1provided by HGNC Primary source HGNC:HGNC:877 See related Ensembl:ENSG00000164904 MIM:107323; AllianceGenome:HGNC:877 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 EPD; PDE; ATQ1 Summary The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011] Expression Ubiquitous expression in kidney (RPKM 27.7), liver (RPKM 24.1) and 24 other tissues See more Orthologs mouse all
ALDH7A1P1, Official Symbol ALDH7A1P1provided by HGNC Official Full Name aldehyde dehydrogenase 7 family member A1 pseudogene 1provided by HGNC Primary source HGNC:HGNC:878 See related Ensembl:ENSG00000251400 AllianceGenome:HGNC:878 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATQL1
ALDH7A1P2, Official Symbol ALDH7A1P2provided by HGNC Official Full Name aldehyde dehydrogenase 7 family member A1 pseudogene 2provided by HGNC Primary source HGNC:HGNC:879 See related Ensembl:ENSG00000232292 AllianceGenome:HGNC:879 Gene type pseudo RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATQL2
ALDH7A1P4, Official Symbol ALDH7A1P4provided by HGNC Official Full Name aldehyde dehydrogenase 7 family member A1 pseudogene 4provided by HGNC Primary source HGNC:HGNC:881 See related AllianceGenome:HGNC:881 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ATQL4
ALDH8A1, Official Symbol ALDH8A1provided by HGNC Official Full Name aldehyde dehydrogenase 8 family member A1provided by HGNC Primary source HGNC:HGNC:15471 See related Ensembl:ENSG00000118514 MIM:606467; AllianceGenome:HGNC:15471 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 ALDH12; DJ352A20.2 Summary This gene encodes a member of the aldehyde dehydrogenase family of proteins. The encoded protein has been implicated in the synthesis of 9-cis-retinoic acid and in the breakdown of the amino acid tryptophan. This enzyme converts 9-cis-retinal into the retinoid X receptor ligand 9-cis-retinoic acid, and has approximately 40-fold higher activity with 9-cis-retinal than with all-trans-retinal. In addition, this enzyme has been shown to catalyze the conversion of 2-aminomuconic semialdehyde to 2-aminomuconate in the kynurenine pathway of tryptophan catabolism. [provided by RefSeq, Jul 2018] Expression Biased expression in liver (RPKM 60.7) and kidney (RPKM 37.6) See more Orthologs mouse all
ALDH9A1, Official Symbol ALDH9A1provided by HGNC Official Full Name aldehyde dehydrogenase 9 family member A1provided by HGNC Primary source HGNC:HGNC:412 See related Ensembl:ENSG00000143149 MIM:602733; AllianceGenome:HGNC:412 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 E3; ALDH4; ALDH7; ALDH9; TMABADH; TMABA-DH; TMABALDH Summary This protein belongs to the aldehyde dehydrogenase family of proteins. It has a high activity for oxidation of gamma-aminobutyraldehyde and other amino aldehydes. The enzyme catalyzes the dehydrogenation of gamma-aminobutyraldehyde to gamma-aminobutyric acid (GABA). This isozyme is a tetramer of identical 54-kD subunits. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in fat (RPKM 90.6), thyroid (RPKM 83.5) and 25 other tissues See more Orthologs mouse all
ALDOA, Official Symbol ALDOAprovided by HGNC Official Full Name aldolase, fructose-bisphosphate Aprovided by HGNC Primary source HGNC:HGNC:414 See related Ensembl:ENSG00000149925 MIM:103850; AllianceGenome:HGNC:414 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 ALDA; GSD12; HEL-S-87p Summary This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are differentially expressed during development. Mutations in this gene have been associated with Glycogen Storage Disease XII, an autosomal recessive disorder associated with hemolytic anemia. Disruption of this gene also plays a role in the progression of multiple types of cancers. Related pseudogenes have been identified on chromosomes 3 and 10. [provided by RefSeq, Sep 2017] Expression Ubiquitous expression in heart (RPKM 290.3), esophagus (RPKM 221.3) and 25 other tissues See more Orthologs mouse all
ALDOB, Official Symbol ALDOBprovided by HGNC Official Full Name aldolase, fructose-bisphosphate Bprovided by HGNC Primary source HGNC:HGNC:417 See related Ensembl:ENSG00000136872 MIM:612724; AllianceGenome:HGNC:417 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 ALDB; ALDO2 Summary Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping' genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. [provided by RefSeq, Dec 2008] Expression Biased expression in kidney (RPKM 2378.7), small intestine (RPKM 1833.7) and 2 other tissues See more Orthologs mouse all
ALDOC, Official Symbol ALDOCprovided by HGNC Official Full Name aldolase, fructose-bisphosphate Cprovided by HGNC Primary source HGNC:HGNC:418 See related Ensembl:ENSG00000109107 MIM:103870; AllianceGenome:HGNC:418 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 ALDC Summary This gene encodes a member of the class I fructose-biphosphate aldolase gene family. Expressed specifically in the hippocampus and Purkinje cells of the brain, the encoded protein is a glycolytic enzyme that catalyzes the reversible aldol cleavage of fructose-1,6-biphosphate and fructose 1-phosphate to dihydroxyacetone phosphate and either glyceraldehyde-3-phosphate or glyceraldehyde, respectively. [provided by RefSeq, Jul 2008] Expression Biased expression in brain (RPKM 270.0), fat (RPKM 67.7) and 5 other tissues See more Orthologs mouse all
ALG1, Official Symbol ALG1provided by HGNC Official Full Name ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferaseprovided by HGNC Primary source HGNC:HGNC:18294 See related Ensembl:ENSG00000033011 MIM:605907; AllianceGenome:HGNC:18294 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 HMT1; MT-1; CDG1K; HMAT1; HMT-1; Mat-1; hMat-1 Summary The enzyme encoded by this gene catalyzes the first mannosylation step in the biosynthesis of lipid-linked oligosaccharides. This gene is mutated in congenital disorder of glycosylation type Ik. [provided by RefSeq, Dec 2008] Expression Ubiquitous expression in testis (RPKM 6.0), colon (RPKM 5.8) and 25 other tissues See more Orthologs mouse all
ALG10, Official Symbol ALG10provided by HGNC Official Full Name ALG10 alpha-1,2-glucosyltransferaseprovided by HGNC Primary source HGNC:HGNC:23162 See related Ensembl:ENSG00000139133 MIM:618355; AllianceGenome:HGNC:23162 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 DIE2; KCR1; ALG10A Summary This gene encodes a membrane-associated protein that adds the third glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation. That is, it transfers the terminal glucose from dolichyl phosphate glucose (Dol-P-Glc) onto the lipid-linked oligosaccharide Glc2Man9GlcNAc(2)-PP-Dol. The rat protein homolog was shown to specifically modulate the gating function of the rat neuronal ether-a-go-go (EAG) potassium ion channel. [provided by RefSeq, Jan 2010] Expression Ubiquitous expression in testis (RPKM 2.3), thyroid (RPKM 2.0) and 25 other tissues See more Orthologs mouse all
ALG10B, Official Symbol ALG10Bprovided by HGNC Official Full Name ALG10 alpha-1,2-glucosyltransferase Bprovided by HGNC Primary source HGNC:HGNC:31088 See related Ensembl:ENSG00000175548 MIM:603313; AllianceGenome:HGNC:31088 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 KCR1; ALG10 Summary Enables transferase activity. Involved in positive regulation of inward rectifier potassium channel activity; positive regulation of protein glycosylation; and protein glycosylation. Located in endoplasmic reticulum. Implicated in long QT syndrome 2. [provided by Alliance of Genome Resources, Apr 2022] Expression Ubiquitous expression in thyroid (RPKM 2.3), placenta (RPKM 2.2) and 25 other tissues See more Orthologs all
ALG11, Official Symbol ALG11provided by HGNC Official Full Name ALG11 alpha-1,2-mannosyltransferaseprovided by HGNC Primary source HGNC:HGNC:32456 See related Ensembl:ENSG00000253710 MIM:613666; AllianceGenome:HGNC:32456 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 GT8; CDG1P Summary This gene encodes a GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase which is localized to the cytosolic side of the endoplasmic reticulum (ER) and catalyzes the transfer of the fourth and fifth mannose residue from GDP-mannose (GDP-Man) to Man3GlcNAc2-PP-dolichol and Man4GlcNAc2-PP-dolichol resulting in the production of Man5GlcNAc2-PP-dolichol. Mutations in this gene are associated with congenital disorder of glycosylation type Ip (CDGIP). This gene overlaps but is distinct from the UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) gene. A pseudogene of the GDP-Man:Man3GlcNAc2-PP-dolichol-alpha1,2-mannosyltransferase has been identified on chromosome 19. [provided by RefSeq, Aug 2010] Expression Ubiquitous expression in thyroid (RPKM 12.1), kidney (RPKM 8.8) and 25 other tissues See more Orthologs mouse all
ALG12, Official Symbol ALG12provided by HGNC Official Full Name ALG12 alpha-1,6-mannosyltransferaseprovided by HGNC Primary source HGNC:HGNC:19358 See related Ensembl:ENSG00000182858 MIM:607144; AllianceGenome:HGNC:19358 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 CDG1G; ECM39; hALG12; PP14673 Summary This gene encodes a member of the glycosyltransferase 22 family. The encoded protein catalyzes the addition of the eighth mannose residue in an alpha-1,6 linkage onto the dolichol-PP-oligosaccharide precursor (dolichol-PP-Man(7)GlcNAc(2)) required for protein glycosylation. Mutations in this gene have been associated with congenital disorder of glycosylation type Ig (CDG-Ig)characterized by abnormal N-glycosylation. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in thyroid (RPKM 10.8), prostate (RPKM 8.3) and 25 other tissues See more Orthologs mouse all
ALG13, Official Symbol ALG13provided by HGNC Official Full Name ALG13 UDP-N-acetylglucosaminyltransferase subunitprovided by HGNC Primary source HGNC:HGNC:30881 See related Ensembl:ENSG00000101901 MIM:300776; AllianceGenome:HGNC:30881 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 CDG1S; DEE36; EIEE36; MDS031; TDRD13; CXorf45; GLT28D1; YGL047W Summary The protein encoded by this gene is a subunit of a bipartite UDP-N-acetylglucosamine transferase. It heterodimerizes with asparagine-linked glycosylation 14 homolog to form a functional UDP-GlcNAc glycosyltransferase that catalyzes the second sugar addition of the highly conserved oligosaccharide precursor in endoplasmic reticulum N-linked glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2009] Expression Ubiquitous expression in testis (RPKM 4.1), skin (RPKM 3.5) and 25 other tissues See more Orthologs mouse all
ALG14, Official Symbol ALG14provided by HGNC Official Full Name ALG14 UDP-N-acetylglucosaminyltransferase subunitprovided by HGNC Primary source HGNC:HGNC:28287 See related Ensembl:ENSG00000172339 MIM:612866; AllianceGenome:HGNC:28287 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 CMS15; MEPCA; IDDEBF Summary This gene is a member of the glycosyltransferase 1 family. The encoded protein and ALG13 are thought to be subunits of UDP-GlcNAc transferase, which catalyzes the first two committed steps in endoplasmic reticulum N-linked glycosylation. Mutations in this gene have been linked to congenital myasthenic syndrome (CMSWTA). Alternatively spliced transcript variants have been identified. [provided by RefSeq, Mar 2015] Expression Ubiquitous expression in adrenal (RPKM 2.5), thyroid (RPKM 2.5) and 25 other tissues See more Orthologs mouse all
ALG14-AS1, Official Symbol ALG14-AS1provided by HGNC Official Full Name ALG14 antisense RNA 1provided by HGNC Primary source HGNC:HGNC:41192 See related Ensembl:ENSG00000230427 AllianceGenome:HGNC:41192 Gene type ncRNA RefSeq status VALIDATED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Expression Low expression observed in reference dataset See more
ALG1L10P, Official Symbol ALG1L10Pprovided by HGNC Official Full Name ALG1 like 10, pseudogeneprovided by HGNC Primary source HGNC:HGNC:44379 See related Ensembl:ENSG00000254016 AllianceGenome:HGNC:44379 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ALG1L11P, Official Symbol ALG1L11Pprovided by HGNC Official Full Name ALG1 like 11, pseudogeneprovided by HGNC Primary source HGNC:HGNC:44380 See related Ensembl:ENSG00000249889 AllianceGenome:HGNC:44380 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ALG1L14P, Official Symbol ALG1L14Pprovided by HGNC Official Full Name ALG1 like 14, pseudogeneprovided by HGNC Primary source HGNC:HGNC:44383 See related AllianceGenome:HGNC:44383 Gene type pseudo RefSeq status MODEL Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ALG1L15P, Official Symbol ALG1L15Pprovided by HGNC Official Full Name ALG1 like 15, pseudogeneprovided by HGNC Primary source HGNC:HGNC:44384 See related AllianceGenome:HGNC:44384 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ALG1L2, Official Symbol ALG1L2provided by HGNC Official Full Name ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase like 2provided by HGNC Primary source HGNC:HGNC:37258 See related Ensembl:ENSG00000251287 AllianceGenome:HGNC:37258 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 mannosyltransferase activity. Predicted to be involved in protein glycosylation. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022] Annotation information Note: Genetic polymorphisms result in both protein coding and non-coding alleles of this gene. Expression Low expression observed in reference dataset See more Orthologs all
ALG1L3P, Official Symbol ALG1L3Pprovided by HGNC Official Full Name ALG1 like 3, pseudogeneprovided by HGNC Primary source HGNC:HGNC:44372 See related Ensembl:ENSG00000251087 AllianceGenome:HGNC:44372 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ALG1L5P, Official Symbol ALG1L5Pprovided by HGNC Official Full Name ALG1 like 5, pseudogeneprovided by HGNC Primary source HGNC:HGNC:44374 See related Ensembl:ENSG00000226943 AllianceGenome:HGNC:44374 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ALG1L7P, Official Symbol ALG1L7Pprovided by HGNC Official Full Name ALG1 like 7, pseudogeneprovided by HGNC Primary source HGNC:HGNC:44376 See related AllianceGenome:HGNC:44376 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ALG1L8P, Official Symbol ALG1L8Pprovided by HGNC Official Full Name ALG1 like 8, pseudogeneprovided by HGNC Primary source HGNC:HGNC:44377 See related Ensembl:ENSG00000227620 AllianceGenome:HGNC:44377 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ALG2, Official Symbol ALG2provided by HGNC Official Full Name ALG2 alpha-1,3/1,6-mannosyltransferaseprovided by HGNC Primary source HGNC:HGNC:23159 See related Ensembl:ENSG00000119523 MIM:607905; AllianceGenome:HGNC:23159 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 CDG1I; CDGIi; CMS14; NET38; CMSTA3; hALPG2 Summary This gene encodes a member of the glycosyltransferase 1 family. The encoded protein acts as an alpha 1,3 mannosyltransferase, mannosylating Man(2)GlcNAc(2)-dolichol diphosphate and Man(1)GlcNAc(2)-dolichol diphosphate to form Man(3)GlcNAc(2)-dolichol diphosphate. Defects in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ii). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2008] Annotation information Note: ALG2 (Gene ID: 85365) and PDCD6 (Gene ID: 10016) share the ALG2 symbol/alias in common. ALG2 is a widely used alternative name for programmed cell death 6 (PDCD6), whose synonym is apoptosis-linked gene-2. This can be confused with the official symbol for ALG2, alpha-1,3/1,6-mannosyltransferase (ALG2). [31 May 2018] Expression Ubiquitous expression in thyroid (RPKM 18.5), adrenal (RPKM 14.8) and 25 other tissues See more Orthologs mouse all
ALG3, Official Symbol ALG3provided by HGNC Official Full Name ALG3 alpha-1,3- mannosyltransferaseprovided by HGNC Primary source HGNC:HGNC:23056 See related Ensembl:ENSG00000214160 MIM:608750; AllianceGenome:HGNC:23056 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 not; CDG1D; CDGS4; CDGS6; Not56; NOT56L; D16Ertd36e Summary This gene encodes a member of the ALG3 family. The encoded protein catalyses the addition of the first dol-P-Man derived mannose in an alpha 1,3 linkage to Man5GlcNAc2-PP-Dol. Defects in this gene have been associated with congenital disorder of glycosylation type Id (CDG-Id) characterized by abnormal N-glycosylation. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Expression Ubiquitous expression in testis (RPKM 10.3), placenta (RPKM 9.7) and 25 other tissues See more Orthologs mouse all
ALG3P1, Official Symbol ALG3P1provided by HGNC Official Full Name ALG3 pseudogene 1provided by HGNC Primary source HGNC:HGNC:45159 See related Ensembl:ENSG00000251568 AllianceGenome:HGNC:45159 Gene type pseudo RefSeq status INFERRED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
ALG5, Official Symbol ALG5provided by HGNC Official Full Name ALG5 dolichyl-phosphate beta-glucosyltransferaseprovided by HGNC Primary source HGNC:HGNC:20266 See related Ensembl:ENSG00000120697 MIM:604565; AllianceGenome:HGNC:20266 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 PKD7; bA421P11.2 Summary This gene encodes a member of the glycosyltransferase 2 family. The encoded protein participates in glucosylation of the oligomannose core in N-linked glycosylation of proteins. The addition of glucose residues to the oligomannose core is necessary to ensure substrate recognition, and therefore, effectual transfer of the oligomannose core to the nascent glycoproteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2008] Expression Ubiquitous expression in thyroid (RPKM 27.6), colon (RPKM 17.5) and 25 other tissues See more Orthologs mouse all
ALG6, Official Symbol ALG6provided by HGNC Official Full Name ALG6 alpha-1,3-glucosyltransferaseprovided by HGNC Primary source HGNC:HGNC:23157 See related Ensembl:ENSG00000088035 MIM:604566; AllianceGenome:HGNC:23157 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 CDG1C Summary This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the first glucose residue to the growing lipid-linked oligosaccharide precursor of N-linked glycosylation. Mutations in this gene are associated with congenital disorders of glycosylation type Ic. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in lymph node (RPKM 4.0), appendix (RPKM 3.5) and 25 other tissues See more Orthologs mouse all
ALG8, Official Symbol ALG8provided by HGNC Official Full Name ALG8 alpha-1,3-glucosyltransferaseprovided by HGNC Primary source HGNC:HGNC:23161 See related Ensembl:ENSG00000159063 MIM:608103; AllianceGenome:HGNC:23161 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 CDG1H; PCLD3 Summary This gene encodes a member of the ALG6/ALG8 glucosyltransferase family. The encoded protein catalyzes the addition of the second glucose residue to the lipid-linked oligosaccharide precursor for N-linked glycosylation of proteins. Mutations in this gene have been associated with congenital disorder of glycosylation type Ih (CDG-Ih). Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008] Expression Ubiquitous expression in testis (RPKM 16.1), adrenal (RPKM 9.8) and 25 other tissues See more Orthologs mouse all
ALG9, Official Symbol ALG9provided by HGNC Official Full Name ALG9 alpha-1,2-mannosyltransferaseprovided by HGNC Primary source HGNC:HGNC:15672 See related Ensembl:ENSG00000086848 MIM:606941; AllianceGenome:HGNC:15672 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 CDG1L; DIBD1; GIKANIS; LOH11CR1J Summary This gene encodes an alpha-1,2-mannosyltransferase enzyme that functions in lipid-linked oligosaccharide assembly. Mutations in this gene result in congenital disorder of glycosylation type Il. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008] Expression Ubiquitous expression in testis (RPKM 3.4), thyroid (RPKM 3.0) and 25 other tissues See more Orthologs mouse all
ALK, Official Symbol ALKprovided by HGNC Official Full Name ALK receptor tyrosine kinaseprovided by HGNC Primary source HGNC:HGNC:427 See related Ensembl:ENSG00000171094 MIM:105590; AllianceGenome:HGNC:427 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 ALK1; CD246; NBLST3 Summary This gene encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. This protein comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or amplified in a series of tumours including anaplastic large cell lymphomas, neuroblastoma, and non-small cell lung cancer. The chromosomal rearrangements are the most common genetic alterations in this gene, which result in creation of multiple fusion genes in tumourigenesis, including ALK (chromosome 2)/EML4 (chromosome 2), ALK/RANBP2 (chromosome 2), ALK/ATIC (chromosome 2), ALK/TFG (chromosome 3), ALK/NPM1 (chromosome 5), ALK/SQSTM1 (chromosome 5), ALK/KIF5B (chromosome 10), ALK/CLTC (chromosome 17), ALK/TPM4 (chromosome 19), and ALK/MSN (chromosome X).[provided by RefSeq, Jan 2011] Expression Low expression observed in reference dataset See more Orthologs mouse all
ALKAL1, Official Symbol ALKAL1provided by HGNC Official Full Name ALK and LTK ligand 1provided by HGNC Primary source HGNC:HGNC:33775 See related Ensembl:ENSG00000196711 MIM:619670; AllianceGenome:HGNC:33775 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 AUGA; AUGB; FAM150A; UNQ9433 Summary Enables receptor signaling protein tyrosine kinase activator activity and receptor tyrosine kinase binding activity. Involved in positive regulation of ERK1 and ERK2 cascade; positive regulation of ERK5 cascade; and positive regulation of neuron projection development. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in gall bladder (RPKM 1.3), thyroid (RPKM 1.1) and 7 other tissues See more Orthologs mouse all
ALKAL2, Official Symbol ALKAL2provided by HGNC Official Full Name ALK and LTK ligand 2provided by HGNC Primary source HGNC:HGNC:27683 See related Ensembl:ENSG00000189292 MIM:619671; AllianceGenome:HGNC:27683 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 AUGA; FAM150B; PRO1097; RGPG542 Summary Enables receptor signaling protein tyrosine kinase activator activity and receptor tyrosine kinase binding activity. Involved in positive regulation of ERK1 and ERK2 cascade; positive regulation of ERK5 cascade; and positive regulation of neuron projection development. Predicted to be located in extracellular region. [provided by Alliance of Genome Resources, Apr 2022] Expression Biased expression in adrenal (RPKM 46.6), ovary (RPKM 14.2) and 6 other tissues See more Orthologs mouse all