ENSG00000185000


Homo sapiens

Features
Gene ID: ENSG00000185000
  
Biological name :DGAT1
  
Synonyms : DGAT1 / diacylglycerol O-acyltransferase 1 / O75907
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 8
Strand: -1
Band: q24.3
Gene start: 144314584
Gene end: 144326910
  
Corresponding Affymetrix probe sets: 203669_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000332258
Ensembl peptide - ENSP00000482264
NCBI entrez gene - 8694     See in Manteia.
OMIM - 604900
RefSeq - NM_012079
RefSeq - XM_011517356
RefSeq Peptide - NP_036211
swissprot - A0A0A0MR74
swissprot - O75907
Ensembl - ENSG00000185000
  
Related genetic diseases (OMIM): 615863 - ?Diarrhea 7, 615863
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)
Ortholog nameID Species
 dgat1aENSDARG00000103503Danio rerio
 dgat1bENSDARG00000054914Danio rerio
 Dgat1ENSMUSG00000022555Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SOAT1 / P35610 / sterol O-acyltransferase 1ENSG0000005725221
SOAT2 / O75908 / sterol O-acyltransferase 2ENSG0000016778020


Protein motifs (from Interpro)
Interpro ID Name
 IPR004299  Membrane bound O-acyl transferase, MBOAT
 IPR014371  Sterol O-acyltransferase, ACAT/DAG/ARE types
 IPR027251  Diacylglycerol O-acyltransferase 1


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006641 triglyceride metabolic process TAS
 biological_processGO:0019432 triglyceride biosynthetic process IEA
 biological_processGO:0019915 lipid storage IEA
 biological_processGO:0034379 very-low-density lipoprotein particle assembly IMP
 biological_processGO:0035336 long-chain fatty-acyl-CoA metabolic process IEA
 biological_processGO:0036155 acylglycerol acyl-chain remodeling TAS
 biological_processGO:0042572 retinol metabolic process IEA
 biological_processGO:0043312 neutrophil degranulation TAS
 biological_processGO:0046339 diacylglycerol metabolic process IEA
 biological_processGO:0046486 glycerolipid metabolic process IEA
 biological_processGO:0055089 fatty acid homeostasis IEA
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0005789 endoplasmic reticulum membrane IBA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0035579 specific granule membrane TAS
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IEA
 molecular_functionGO:0003846 2-acylglycerol O-acyltransferase activity IEA
 molecular_functionGO:0004144 diacylglycerol O-acyltransferase activity IEA
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0008374 O-acyltransferase activity IEA
 molecular_functionGO:0016740 transferase activity IEA
 molecular_functionGO:0016746 transferase activity, transferring acyl groups TAS
 molecular_functionGO:0050252 retinol O-fatty-acyltransferase activity IEA


Pathways (from Reactome)
Pathway description
Acyl chain remodeling of DAG and TAG
Neutrophil degranulation
Triglyceride biosynthesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 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:0002013 Vomiting 
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 HP:0002014 Diarrhea 
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 HP:0002243 Protein-losing enteropathy 
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 HP:0003073 Hypoalbuminemia "Reduction in the concentration of albumin in the blood." [HPO:curators]
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 HP:0003077 Hyperlipidemia 
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 HP:0003124 Hypercholesterolemia 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000185000 DGAT1 / O75907 / diacylglycerol O-acyltransferase 1  / complex






 

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