Entity Details

Primary name ACBD5_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ5T8D3
EntryNameACBD5_HUMAN
FullNameAcyl-CoA-binding domain-containing protein 5
TaxID9606
Evidenceevidence at protein level
Length534
SequenceStatuscomplete
DateCreated2007-05-15
DateModified2021-06-02

Ontological Relatives

GenesACBD5

GO terms

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GOName
GO:0000062 fatty-acyl-CoA binding
GO:0005654 nucleoplasm
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005829 cytosol
GO:0008289 lipid binding
GO:0009062 fatty acid catabolic process
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030242 autophagy of peroxisome
GO:0045046 protein import into peroxisome membrane

Subcellular Location

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Subcellular Location
Peroxisome membrane

Domains

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DomainNameCategoryType
IPR000582 Acyl-CoA-binding protein, ACBPDomainDomain
IPR014352 FERM/acyl-CoA-binding protein superfamilyFamilyHomologous superfamily
IPR016347 Acyl-CoA-binding domain-containing protein 5FamilyFamily
IPR022408 Acyl-CoA-binding protein, ACBP, conserved siteSiteConserved site
IPR035984 Acyl-CoA binding protein superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618863 OMIMRetinal dystrophy with leukodystrophy (RDLKD)An autosomal recessive disorder characterized by progressive leukodystrophy associated with developmental delay, spastic paraparesis, ataxia, and retinal dystrophy. Patients may show facial dysmorphism. Laboratory investigations reveal an abnormal profile of very-long chain fatty acid in plasma. The disease is caused by variants affecting the gene represented in this entry.

Interactions

5 interactions