Entity Details

Primary name ABCD4_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionO14678
EntryNameABCD4_HUMAN
FullNameLysosomal cobalamin transporter ABCD4
TaxID9606
Evidenceevidence at protein level
Length606
SequenceStatuscomplete
DateCreated2000-05-30
DateModified2021-06-02

Ontological Relatives

GenesABCD4

GO terms

Show/Hide Table
GOName
GO:0005324 long-chain fatty acid transporter activity
GO:0005524 ATP binding
GO:0005765 lysosomal membrane
GO:0005777 peroxisome
GO:0005778 peroxisomal membrane
GO:0005789 endoplasmic reticulum membrane
GO:0006635 fatty acid beta-oxidation
GO:0007031 peroxisome organization
GO:0009235 cobalamin metabolic process
GO:0015910 long-chain fatty acid import into peroxisome
GO:0016021 integral component of membrane
GO:0016887 ATP hydrolysis activity
GO:0042626 ATPase-coupled transmembrane transporter activity
GO:0042760 very long-chain fatty acid catabolic process
GO:0043190 ATP-binding cassette (ABC) transporter complex
GO:0055085 transmembrane transport
GO:1990830 cellular response to leukemia inhibitory factor

Subcellular Location

Show/Hide Table
Subcellular Location
Endoplasmic reticulum membrane
Lysosome membrane

Domains

Show/Hide Table
DomainNameCategoryType
IPR003439 ABC transporter-like, ATP-binding domainDomainDomain
IPR003593 AAA+ ATPase domainDomainDomain
IPR011527 ABC transporter type 1, transmembrane domainDomainDomain
IPR017871 ABC transporter-like, conserved siteSiteConserved site
IPR027417 P-loop containing nucleoside triphosphate hydrolaseFamilyHomologous superfamily
IPR036640 ABC transporter type 1, transmembrane domain superfamilyFamilyHomologous superfamily

Diseases

Show/Hide Table
Disease IDSourceNameDescription
614857 OMIMMethylmalonic aciduria and homocystinuria type cblJ (MAHCJ)A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include feeding difficulties, poor growth, hypotonia, lethargy, anemia, and developmental delay. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions