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MT000879

UniProt Annotations

Entry Information

Gene Name	acyl-CoA synthetase long-chain family member 6
Protein Entry	ACSL6_HUMAN
UniProt ID	Q9UKU0
Species	Human

Comments

Comment type	Description
Alternative Products	Event=Alternative splicing; Named isoforms=9; Name=4; IsoId=Q9UKU0-4; Sequence=Displayed; Name=1; Synonyms=Long, v2; IsoId=Q9UKU0-1; Sequence=VSP_037819; Name=2; Synonyms=Short; IsoId=Q9UKU0-2; Sequence=VSP_021024, VSP_000241; Note=No experimental confirmation available.; Name=3; IsoId=Q9UKU0-3; Sequence=VSP_021024; Note=No experimental confirmation available.; Name=5; Synonyms=v4; IsoId=Q9UKU0-5; Sequence=VSP_037823; Name=6; Synonyms=v5; IsoId=Q9UKU0-6; Sequence=VSP_037821; Name=7; Synonyms=v3; IsoId=Q9UKU0-7; Sequence=VSP_037820, VSP_037822; Name=8; Synonyms=v1; IsoId=Q9UKU0-8; Sequence=VSP_037819, VSP_021024; Note=No experimental confirmation available.; Name=9; IsoId=Q9UKU0-9; Sequence=VSP_046954; Note=No experimental confirmation available.;
Catalytic Activity	ATP + a long-chain fatty acid + CoA = AMP + diphosphate + an acyl-CoA.
Cofactor	Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
Developmental Stage	Expression is low at earlier stages of erythroid development but is very high in reticulocytes.
Disease	Note=A chromosomal aberration involving ACSL6 may be a cause of acute eosinophilic leukemia (AEL). Translocation t(5;12)(q31;p13) with ETV6.
Disease	Note=A chromosomal aberration involving ACSL6 may be a cause of acute myelogenous leukemia with eosinophilia. Translocation t(5;12)(q31;p13) with ETV6.
Disease	Note=A chromosomal aberration involving ACSL6 may be a cause of myelodysplastic syndrome with basophilia. Translocation t(5;12)(q31;p13) with ETV6.
Function	Activation of long-chain fatty acids for both synthesis of cellular lipids, and degradation via beta-oxidation. Plays an important role in fatty acid metabolism in brain and the acyl-CoAs produced may be utilized exclusively for the synthesis of the brain lipid.
Sequence Caution	Sequence=AAH26161.1; Type=Erroneous termination; Positions=72; Note=Translated as Arg.; Evidence={ECO:0000305}; Sequence=BAA74860.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
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}.
Tissue Specificity	Expressed predominantly in erythrocyte precursors, in particular in reticulocytes, fetal blood cells derived from fetal liver, hemopoietic stem cells from cord blood, bone marrow and brain. {ECO:0000269\|PubMed:10548543}.