InnateDB Protein
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IDBP-481215.4
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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ACSL4
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Protein Name
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acyl-CoA synthetase long-chain family member 4
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Synonyms
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ACS4; FACL4; LACS4; MRX63; MRX68;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000423077
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InnateDB Gene
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IDBG-82250 (ACSL4)
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Protein Structure
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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.
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Subcellular Localization |
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}.
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Disease Associations |
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:0000269PubMed:11889465}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
16
[view]
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Protein-Protein |
15
[view]
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Protein-DNA |
0
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Protein-RNA |
1
[view]
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
O60488
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PhosphoSite |
PhosphoSite-O60488
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
2182
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UniGene |
Hs.268785
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RefSeq |
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HUGO |
HGNC:3571
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OMIM |
300157
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CCDS |
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HPRD |
02152
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IMGT |
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EMBL |
AF030555
AK292070
BC034959
CH471120
Y12777
Y13058
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GenPept |
AAC17493
AAH34959
BAF84759
CAA73314
CAA73501
EAX02671
EAX02672
EAX02673
EAX02674
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