InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: ABCB7

Summary

InnateDB Gene

IDBG-77295.6

Last Modified

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

Gene Symbol

ABCB7

Gene Name

ATP-binding cassette, sub-family B (MDR/TAP), member 7

Synonyms

ABC7; ASAT; Atm1p; EST140535

Species

Homo sapiens

Ensembl Gene

ENSG00000131269

Encoded Proteins

IDBP-77297

ATP-binding cassette, sub-family B (MDR/TAP), member 7

IDBP-77299

ATP-binding cassette, sub-family B (MDR/TAP), member 7

IDBP-77301

ATP-binding cassette, sub-family B (MDR/TAP), member 7

IDBP-590746

ATP-binding cassette, sub-family B (MDR/TAP), member 7

IDBP-595971

ATP-binding cassette, sub-family B (MDR/TAP), member 7

IDBP-596579

ATP-binding cassette, sub-family B (MDR/TAP), member 7

IDBP-809893

ATP-binding cassette, sub-family B (MDR/TAP), member 7

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

The membrane-associated 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]

Gene Information

Type

Protein coding

Genomic Location

Chromosome X:75053172-75156732

Strand

Reverse strand

Band

q13.3

Transcripts

ENST00000253577	ENSP00000253577
ENST00000339447	ENSP00000343849
ENST00000373394	ENSP00000362492
ENST00000490858
ENST00000469368
ENST00000529949	ENSP00000436586
ENST00000534570
ENST00000534524	ENSP00000435521
ENST00000526404	ENSP00000432813
ENST00000620875	ENSP00000479985

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.

Experimentally validated
Total	12 [view]
Protein-Protein	12 [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:0005524	ATP binding
GO:0015232	heme transporter activity
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:0006879	cellular iron ion homeostasis
GO:0015886	heme transport
GO:0044281	small molecule metabolic process
GO:0055085	transmembrane transport

Cellular Component

GO:0005739	mitochondrion
GO:0005743	mitochondrial inner membrane
GO:0016021	integral component of membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000031333

View Gene Order

ENSBTAG00000011028

Not yet available

Pathways

NETPATH

REACTOME

REACT_111108

Mitochondrial ABC transporters pathway

REACT_15480

ABC-family proteins mediated transport pathway

REACT_160176

Cytosolic iron-sulfur cluster assembly pathway

REACT_15518

Transmembrane transport of small molecules pathway

REACT_111217

Metabolism pathway

KEGG

hsa02010

ABC transporters pathway

INOH

PID NCI

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

RefSeq

NM_001271696 NM_001271697 NM_001271698 NM_001271699 NM_004299

HUGO

OMIM

CCDS

CCDS14428 CCDS65290 CCDS65291 CCDS75994

HPRD

02137

IMGT

EMBL

GenPept

RNA Seq Atlas