InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ABCB7

Summary

InnateDB Protein

IDBP-77301.5

Last Modified

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

Gene Symbol

ABCB7

Protein Name

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

Synonyms

ABC7; ASAT; Atm1p; EST140535;

Species

Homo sapiens

Ensembl Protein

ENSP00000362492

InnateDB Gene

IDBG-77295 (ABCB7)

Protein Structure

UniProt Annotation

Function

Could be involved in the transport of heme from the mitochondria to the cytosol. Plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins.

Subcellular Localization

Mitochondrion inner membrane {ECO:0000305}; Multi-pass membrane protein {ECO:0000255PROSITE- ProRule:PRU00441}.

Disease Associations

Anemia, sideroblastic, spinocerebellar ataxia (ASAT) [MIM:301310]: A X-linked recessive disorder characterized by an infantile to early childhood onset of non-progressive cerebellar ataxia and mild anemia, with hypochromia and microcytosis. {ECO:0000269PubMed:10196363, ECO:0000269PubMed:11050011, ECO:0000269PubMed:11843825, ECO:0000269PubMed:22398176}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

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

Protein Structure and Domains

PDB ID

InterPro

IPR001140 ABC transporter, transmembrane domain
IPR003439 ABC transporter-like
IPR003593 AAA+ ATPase domain
IPR011527 ABC transporter type 1, transmembrane domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00664
PF13748
PF00005

PRINTS

PIRSF

SMART

SM00382

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

O75027