Entity Details

Primary name ABCD1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionP33897
EntryNameABCD1_HUMAN
FullNameATP-binding cassette sub-family D member 1
TaxID9606
Evidenceevidence at protein level
Length745
SequenceStatuscomplete
DateCreated1994-02-01
DateModified2021-06-02

Ontological Relatives

GenesABCD1

GO terms

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GOName
GO:0002082 regulation of oxidative phosphorylation
GO:0005324 long-chain fatty acid transporter activity
GO:0005524 ATP binding
GO:0005737 cytoplasm
GO:0005765 lysosomal membrane
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005779 integral component of peroxisomal membrane
GO:0005789 endoplasmic reticulum membrane
GO:0005829 cytosol
GO:0006635 fatty acid beta-oxidation
GO:0006869 lipid transport
GO:0007031 peroxisome organization
GO:0015607 ABC-type fatty-acyl-CoA transporter activity
GO:0015910 long-chain fatty acid import into peroxisome
GO:0015919 peroxisomal membrane transport
GO:0016020 membrane
GO:0016887 ATP hydrolysis activity
GO:0019899 enzyme binding
GO:0030497 fatty acid elongation
GO:0031966 mitochondrial membrane
GO:0031998 regulation of fatty acid beta-oxidation
GO:0032000 positive regulation of fatty acid beta-oxidation
GO:0033540 fatty acid beta-oxidation using acyl-CoA oxidase
GO:0036109 alpha-linolenic acid metabolic process
GO:0036113 very long-chain fatty-acyl-CoA catabolic process
GO:0042626 ATPase-coupled transmembrane transporter activity
GO:0042758 long-chain fatty acid catabolic process
GO:0042760 very long-chain fatty acid catabolic process
GO:0042802 identical protein binding
GO:0042803 protein homodimerization activity
GO:0043217 myelin maintenance
GO:0043531 ADP binding
GO:0043651 linoleic acid metabolic process
GO:0045046 protein import into peroxisome membrane
GO:0048471 perinuclear region of cytoplasm
GO:0051900 regulation of mitochondrial depolarization
GO:0055089 fatty acid homeostasis
GO:0055092 sterol homeostasis
GO:1900016 negative regulation of cytokine production involved in inflammatory response
GO:1900407 regulation of cellular response to oxidative stress
GO:1903427 negative regulation of reactive oxygen species biosynthetic process
GO:1990535 neuron projection maintenance
GO:2001280 positive regulation of unsaturated fatty acid biosynthetic process

Subcellular Location

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Subcellular Location
Endoplasmic reticulum membrane
Lysosome membrane
Mitochondrion membrane
Peroxisome membrane

Domains

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DomainNameCategoryType
IPR003439 ABC transporter-like, ATP-binding domainDomainDomain
IPR003593 AAA+ ATPase domainDomainDomain
IPR005283 Peroxysomal long chain fatty acyl transporterFamilyFamily
IPR011527 ABC transporter type 1, transmembrane domainDomainDomain
IPR017871 ABC transporter-like, conserved siteSiteConserved site
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR031237 ATP-binding cassette sub-family D member 1FamilyFamily
IPR036640 ABC transporter type 1, transmembrane domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
300100 OMIMAdrenoleukodystrophy (ALD)A peroxisomal metabolic disorder characterized by progressive multifocal demyelination of the central nervous system and by peripheral adrenal insufficiency (Addison disease). It results in mental deterioration, corticospinal tract dysfunction, and cortical blindness. Different clinical manifestations exist like: cerebral childhood ALD (CALD), adult cerebral ALD (ACALD), adrenomyeloneuropathy (AMN) and 'Addison disease only' (ADO) phenotype. The disease is caused by variants affecting the gene represented in this entry.