InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ABCD3

Summary

InnateDB Gene

IDBG-100373.6

Last Modified

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

Gene Symbol

ABCD3

Gene Name

ATP-binding cassette, sub-family D (ALD), member 3

Synonyms

ABC43; PMP70; PXMP1; ZWS2

Species

Homo sapiens

Ensembl Gene

ENSG00000117528

Encoded Proteins

IDBP-100375

ATP-binding cassette, sub-family D (ALD), member 3

IDBP-100377

ATP-binding cassette, sub-family D (ALD), member 3

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. This peroxisomal membrane protein likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 1:94418455-94518666

Strand

Forward strand

Band

p21.3

Transcripts

ENST00000315713	ENSP00000326880
ENST00000370214	ENSP00000359233
ENST00000468860
ENST00000493416
ENST00000484213
ENST00000464165

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 48 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	48 [view]
Protein-Protein	48 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	2 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0016887	ATPase activity
GO:0042626	ATPase activity, coupled to transmembrane movement of substances
GO:0042803	protein homodimerization activity

Biological Process

GO:0006200	ATP catabolic process
GO:0006635	fatty acid beta-oxidation
GO:0006810	transport
GO:0007031	peroxisome organization
GO:0042760	very long-chain fatty acid catabolic process
GO:0055085	transmembrane transport

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0005777	peroxisome
GO:0005778	peroxisomal membrane
GO:0005782	peroxisomal matrix
GO:0005829	cytosol
GO:0016020	membrane
GO:0016021	integral component of membrane
GO:0043231	intracellular membrane-bounded organelle

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000028127

View Gene Order

ENSBTAG00000009698

Not yet available

Pathways

NETPATH

REACTOME

REACT_111158

ABCA transporters in lipid homeostasis pathway

REACT_15480

ABC-family proteins mediated transport pathway

REACT_15518

Transmembrane transport of small molecules pathway

KEGG

hsa02010

ABC transporters pathway

hsa04146

Peroxisome pathway

INOH

PID NCI

Cross-References

SwissProt

P28288

TrEMBL

F5GYC1

UniProt Splice Variant

Entrez Gene

5825

UniGene

Hs.700576 Hs.707396

RefSeq

NM_001122674 NM_002858 XM_005271088 XM_005271089 XM_006710802

HUGO

HGNC:67

OMIM

170995

CCDS

CCDS44175 CCDS749

HPRD

IMGT

EMBL

AC093117 AC118469 AL138758 BC009712 BC068509 BT006644 CH471097 M81182 X58528 X83467 X83468 X83469 X83470 X83471 X83472 X83473 X83474 X83475 X83476 X83477 X83478 X83479 X83480 X83481 X83482 X83483 X83484 X83485 X83486 X83487 X83488 X83489

GenPept

AAA60128 AAH09712 AAH68509 AAP35290 CAA41416 CAA58470 CAC15960 EAW73047 EAW73048 EAW73049 EAW73050

RNA Seq Atlas

5825