DGAT1
Diacylglycerol O-acyltransferase 1
Also known as: ARGP1, DGAT, DGAT1_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- O75907
- Gene
- DGAT1
- Ensembl
- ENSG00000185000
- Chromosome
- 8
- Canonical length
- 488 aa
- Protein class
- Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted membrane proteins, Transporters
- Subcellular location
- Nucleoli,Nucleoli rim,Endoplasmic reticulum
- Quaternary structure
- Homotetramer
OverviewNCBI Gene
This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013]
Canonical amino-acid sequenceUniProt
488 residues, UniProt reviewed canonical sequence.
>O75907|DGAT1
1 MGDRGSSRRR RTGSRPSSHG GGGPAAAEEE VRDAAAGPDV GAAGDAPAPA PNKDGDAGVG
61 SGHWELRCHR LQDSLFSSDS GFSNYRGILN WCVVMLILSN ARLFLENLIK YGILVDPIQV
121 VSLFLKDPYS WPAPCLVIAA NVFAVAAFQV EKRLAVGALT EQAGLLLHVA NLATILCFPA
181 AVVLLVESIT PVGSLLALMA HTILFLKLFS YRDVNSWCRR ARAKAASAGK KASSAAAPHT
241 VSYPDNLTYR DLYYFLFAPT LCYELNFPRS PRIRKRFLLR RILEMLFFTQ LQVGLIQQWM
301 VPTIQNSMKP FKDMDYSRII ERLLKLAVPN HLIWLIFFYW LFHSCLNAVA ELMQFGDREF
361 YRDWWNSESV TYFWQNWNIP VHKWCIRHFY KPMLRRGSSK WMARTGVFLA SAFFHEYLVS
421 VPLRMFRLWA FTGMMAQIPL AWFVGRFFQG NYGNAAVWLS LIIGQPIAVL MYVHDYYVLN
481 YEAPAAEALocalizationUniProt · AlphaFold · HPA
Whether an antibody against DGAT1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Other membrane
- Secreted
- No
- Transmembrane segments
- 9
- Mean surface accessibility (rSASA)
- 0.37
- Highest tissue expression
- 42 nTPM
Expression across tissuesHPA
Tissue
- small intestine: 42 nTPM
- duodenum: 35 nTPM
- adrenal gland: 25 nTPM
- cerebellum: 24 nTPM
- liver: 18 nTPM
- testis: 18 nTPM
Single-cell type
- oligodendrocyte progenitor cells: 24 nCPM
- enterocytes: 21 nCPM
- adrenal cortex cells: 20 nCPM
- astrocytes: 19 nCPM
- brain excitatory neurons: 15 nCPM
- brain inhibitory neurons: 15 nCPM
Immune cell
- eosinophil: 0.7 nTPM
- myeloid DC: 0.5 nTPM
- neutrophil: 0.5 nTPM
- classical monocyte: 0.4 nTPM
- MAIT T-cell: 0.4 nTPM
- non-classical monocyte: 0.4 nTPM
Brain region
- cerebellum: 7.2 nTPM
- cerebral cortex: 5.7 nTPM
- midbrain: 5.7 nTPM
- hippocampal formation: 5.6 nTPM
- amygdala: 5.4 nTPM
- basal ganglia: 5.3 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about DGAT1.
Disease | AllUniProt
Conditions DGAT1 is implicated in, by any mechanism.
- Diarrhea 7, protein-losing enteropathy type (DIAR7) MIM:615863
Disease | GeneticClinVar
75 pathogenic / likely-pathogenic of 783 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Congenital diarrhea 7 with exudative enteropathy
- DGAT1-related disorder
- Inborn genetic diseases
- Clear cell carcinoma of kidney
- Colon adenocarcinoma
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 1.22
- gnomAD pLI
- 0
- gnomAD missense Z
- 1.04
- DepMap mean gene effect
- -0.02
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 12% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- diacylglycerol metabolic process
- fatty acid homeostasis
- lipid storage
- long-chain fatty-acyl-CoA metabolic process
- monoacylglycerol biosynthetic process
- triglyceride biosynthetic process
- triglyceride metabolic process
- very-low-density lipoprotein particle assembly
Molecular functions
- 2-acylglycerol O-acyltransferase activity
- acyltransferase activity
- diacylglycerol O-acyltransferase activity
- identical protein binding
- retinol O-fatty-acyltransferase activity
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Membrane bound O-acyl transferase, MBOAT
- Sterol O-acyltransferase, ACAT/DAG/ARE types
- MBOAT, membrane-bound O-acyltransferase family
- Diacylglycerol O-acyltransferase 1
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads DGAT1 as an antibody target. Whether an autoantibody or antibody against DGAT1 could matter depends on whether native DGAT1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
DGAT1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label DGAT1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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