ABCB7

GENE INFORMATION

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Gene name

ABCB7 (HGNC Symbol)

Synonyms

ABC7, ASAT, Atm1p, EST140535

Description

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

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]

Chromosome

X (Chromosome progress)

Cytoband

q13.3

Chromosome location (bp)

74273115 - 74376567

Ensembl

ENSG00000131269 (version 73.37)

Entrez gene

22

UniProt

O75027 (UniProt - Evidence at protein level)

neXtProt

NX_O75027

Antibodypedia

ABCB7 antibodies
 

PROTEIN VIEW

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ABCB7-001
 
ABCB7-002
 
ABCB7-005
 
ABCB7-006
 
ABCB7-007
 
ABCB7-008
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

ABCB7-001 ENSP00000253577
ENST00000253577
O75027
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Show » Show » 753 82.8 No 8
ABCB7-002 ENSP00000362492
ENST00000373394
O75027
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Show » Show » 752 82.6 No 8
ABCB7-005 ENSP00000436586
ENST00000529949
B4DGL8
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Show » Show » 702 77.1 No 8
ABCB7-006 ENSP00000343849
ENST00000339447
G3XAC4
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Show » Show » 712 78.2 No 7
ABCB7-007 ENSP00000432813
ENST00000526404
E9PNQ5
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171 19 No 0
ABCB7-008 ENSP00000435521
ENST00000534524
E9PJR8
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Show » Show » 188 20.6 No 2