InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCD4

Summary

InnateDB Protein

IDBP-11959.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ABCD4

Protein Name

ATP-binding cassette, sub-family D (ALD), member 4

Synonyms

ABC41; EST352188; MAHCJ; P70R; P79R; PMP69; PXMP1L;

Species

Homo sapiens

Ensembl Protein

ENSP00000349396

InnateDB Gene

IDBG-11957 (ABCD4)

Protein Structure

UniProt Annotation

Function

May be involved in intracellular processing of vitamin B12 (cobalamin). Could play a role in the lysosomal release of vitamin B12 into the cytoplasm. {ECO:0000269PubMed:22922874}.

Subcellular Localization

Peroxisome membrane; Multi-pass membrane protein.

Disease Associations

Methylmalonic aciduria and homocystinuria type cblJ (MAHCJ) [MIM:614857]: 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. {ECO:0000269PubMed:22922874}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Ubiquitous.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 4 experimentally validated interaction(s) in this database.

Experimentally validated
Total	4 [view]
Protein-Protein	4 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005524	ATP binding
GO:0016887	ATPase activity
GO:0042626	ATPase activity, coupled to transmembrane movement of substances

Biological Process

GO:0006200	ATP catabolic process
GO:0006810	transport
GO:0009235	cobalamin metabolic process
GO:0055085	transmembrane transport

Cellular Component

GO:0005777	peroxisome
GO:0005778	peroxisomal membrane
GO:0005789	endoplasmic reticulum membrane
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0043190	ATP-binding cassette (ABC) transporter complex

Protein Structure and Domains

PDB ID

InterPro

IPR003439 ABC transporter-like
IPR003593 AAA+ ATPase domain
IPR010509 Peroxisomal fatty acyl CoA transporter, transmembrane domain
IPR011527 ABC transporter type 1, transmembrane domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00005
PF06472

PRINTS

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O14678