RBCC Red Blood Cell Collection

ACSL4_HUMAN

Source: PM19886704
PM23856902
BSc_CH
PM22954596
Marked as 'Integral membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: ACSL4 , ACS4, FACL4, LACS4
Protein names and data: ACSL4_HUMAN , Long-chain-fatty-acid--CoA ligase 4; 6.2.1.3 , Long-chain acyl-CoA synthetase 4; LACS 4 Lenght: 711 a.a.
Mass: 79188 Da
fasta formatted sequence
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.
Catalytic activity: ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA.
Disease: ( OMIM: 300157 300194 300387 ) 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. 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.
Cellular location: Mitochondrion outer membrane; Single-pass type III membrane protein (By similarity). Peroxisome membrane; Single-pass type III membrane protein (By similarity). Microsome membrane; Single-pass type III membrane protein (By similarity). Endoplasmic reticulum membrane; Single-pass type III membrane protein (By similarity).

Genetic variants

133 - 133 R -> C (in a colorectal cancer sample; somatic mutation). VAR_036376
570 - 570 R -> S (in MRX63). VAR_013180

Database cross-references

UniProt: O60488
Ensembl: ENST00000340800
Ensembl: ENST00000348502
Ensembl: ENST00000469796
Ensembl: ENST00000469857
MIM: 300157
MIM: 300194
MIM: 300387
neXtProt: NX_O60488
Antibodypedia: O60488 (may not find the protein thus also not any antibody)
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