MitoProteome Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins

MT000218

UniProt Annotations

Entry Information

Gene Name	acyl-CoA synthetase long-chain family member 4
Protein Entry	ACSL4_HUMAN
UniProt ID	O60488
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=2; Name=Long; IsoId=O60488-1; Sequence=Displayed; Name=Short; IsoId=O60488-2; Sequence=VSP_000238;
Catalytic Activity	ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA.
Cofactor	Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250};
Disease	Alport syndrome with mental retardation, midface hypoplasia and elliptocytosis (ATS-MR) [MIM:300194]: A X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, mental retardation, midface hypoplasia and elliptocytosis. Note=The gene represented in this entry may be involved in disease pathogenesis.
Disease	Mental retardation, X-linked 63 (MRX63) [MIM:300387]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. {ECO:0000269\|PubMed:11889465}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Preferentially uses arachidonate and eicosapentaenoate as substrates.
Similarity	Belongs to the ATP-dependent AMP-binding enzyme family. {ECO:0000305}.
Subcellular Location	Mitochondrion outer membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}. Peroxisome membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}. Microsome membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000250}; Single-pass type III membrane protein {ECO:0000250}.