ENSG00000167588
Homo sapiens | |
Features
| Gene ID: | ENSG00000167588 | | | | | Biological name : | GPD1 | | | | | Synonyms : | glycerol-3-phosphate dehydrogenase 1 / GPD1 / P21695 | | | | | Possible biological names infered from orthology : | | | | | | Species: | Homo sapiens | | | | | Chr. number: | 12 | | Strand: | 1 | | Band: | q13.12 | | Gene start: | 50103819 | | Gene end: | 50111319 | | | | | Corresponding Affymetrix probe sets: | 1563034_at (Human Genome U133 Plus 2.0 Array) 1563035_x_at (Human Genome U133 Plus 2.0 Array) 204997_at (Human Genome U133 Plus 2.0 Array) 213706_at (Human Genome U133 Plus 2.0 Array) | | | | | Cross references: | Ensembl peptide - ENSP00000448244
Ensembl peptide - ENSP00000301149
Ensembl peptide - ENSP00000446768
NCBI entrez gene - 2819
See in Manteia.
OMIM - 138420
RefSeq - NM_005276
RefSeq - NM_001257199
RefSeq Peptide - NP_001244128
RefSeq Peptide - NP_005267
swissprot - P21695
swissprot - A0A024R138
swissprot - F8VSE8
Ensembl - ENSG00000167588
| | | | | Related genetic diseases (OMIM): | 614480 - Hypertriglyceridemia, transient infantile, 614480 |
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed
Ortholog prediction (from Ensembl)
Paralog prediction (from Ensembl)
| GPD1L / Q8N335 / glycerol-3-phosphate dehydrogenase 1 like | ENSG00000152642 | 71 |
Protein motifs (from Interpro)
| IPR006109 | Glycerol-3-phosphate dehydrogenase, NAD-dependent, C-terminal | | IPR006168 | Glycerol-3-phosphate dehydrogenase, NAD-dependent | | IPR008927 | 6-phosphogluconate dehydrogenase-like, C-terminal domain superfamily | | IPR011128 | Glycerol-3-phosphate dehydrogenase, NAD-dependent, N-terminal | | IPR013328 | 6-phosphogluconate dehydrogenase, domain 2 | | IPR017751 | Glycerol-3-phosphate dehydrogenase, NAD-dependent, eukaryotic | | IPR036291 | NAD(P)-binding domain superfamily |
Gene Ontology (GO)
Pathways (from Reactome)
Phenotype (from MGI, Zfin or HPO)
| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
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| | HP:0001395 | Hepatic fibrosis | |
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| | HP:0001397 | Hepatic steatosis | |
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| | HP:0001744 | Splenomegaly | "An abnormal enlargement of the spleen." [HPO:curators] |
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| | HP:0002155 | Hypertriglyceridemia | |
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| | HP:0002240 | Hepatomegaly | "An abnormal enlargment of the liver." [HPO:curators] |
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| | HP:0002910 | Elevated transaminases | "Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage." [HPO:curators] |
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| | HP:0003593 | Early onset | |
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| | HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
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Interacting proteins (from Reactome)
| ENSG00000167588 | GPD1 / P21695 / glycerol-3-phosphate dehydrogenase 1 | / complex |
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