LIPID MAPS® Gene/Proteome Database (LMPD)

Introduction | Overview of Interfaces | Browse | Search | Download

LMPD Record

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
LMP006567

UniProt Annotations

Entry Information
Gene Namefatty acid 2-hydroxylase
Protein EntryFA2H_MOUSE
UniProt IDQ5MPP0
SpeciesMouse
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q5MPP0-1; Sequence=Displayed; Name=2; IsoId=Q5MPP0-2; Sequence=VSP_029838; Name=3; IsoId=Q5MPP0-3; Sequence=VSP_029837;
CofactorName=Fe cation; Xref=ChEBI:CHEBI:24875; Evidence={ECO:0000250};
Developmental StageLevels increase rapidly in brains from newborns, in parallel with myelination in the central nervous system. Present at very low levels in newborns. Levels are highest at 2 to 3 weeks, and then decrease slightly to reach an constant, intermediate level after 4 months. Constitutively expressed at an intermediate level throughout adult life. {ECO:0000269|PubMed:15658937, ECO:0000269|PubMed:16998236}.
DomainThe histidine box domains may contain the active site and/or be involved in metal ion binding.
FunctionRequired for alpha-hydroxylation of free fatty acids and the formation of alpha-hydroxylated sphingolipids. {ECO:0000269|PubMed:15658937, ECO:0000269|PubMed:16998236}.
Sequence CautionSequence=AAH46985.1; Type=Frameshift; Positions=34; Evidence={ECO:0000305}; Sequence=AAI11913.1; Type=Erroneous initiation; Evidence={ECO:0000305};
SimilarityBelongs to the sterol desaturase family. SCS7 subfamily. {ECO:0000305}.
SimilarityContains 1 cytochrome b5 heme-binding domain. {ECO:0000255|PROSITE-ProRule:PRU00279}.
Subcellular LocationEndoplasmic reticulum membrane {ECO:0000269|PubMed:15658937}; Multi-pass membrane protein {ECO:0000269|PubMed:15658937}. Microsome membrane {ECO:0000269|PubMed:15658937}; Multi-pass membrane protein {ECO:0000269|PubMed:15658937}.
Tissue SpecificityDetected in brain and skin (at protein level). Detected in brain white matter, cerebellum forebrain, stomach, kidney, skin and testis. Detected in oligodendrocytes. {ECO:0000269|PubMed:15658937, ECO:0000269|PubMed:16998236}.