ABCB7

GENERAL INFORMATION

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Gene name

ABCB7

Gene description

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

Protein class

Disease related genes
Mitochondrial proteins
Plasma proteins
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Predicted localization

Intracellular,Membrane

Number of transcripts

7
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Distinct cytoplasmic and membranous expression in endothel and smooth muscle.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Uncertain based on 1 antibody.
HPA034982
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



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

Cytoband

q13.3

Chromosome location (bp)

75053172 - 75156732

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000131269 (version 78.38)

Entrez gene

22

UniProt

O75027 (UniProt - Evidence at protein level)

neXtProt

NX_O75027

Antibodypedia

ABCB7 antibodies


PROTEIN BROWSER

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ENST00000253577
 
ENST00000339447
 
ENST00000373394
 
ENST00000526404
 
ENST00000529949
 
ENST00000534524
 
ENST00000620875
 
 
 
 


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
Show all »
Show » Show » 753 82.8 No 8
ABCB7-002 ENSP00000362492
ENST00000373394
O75027
Show all »
Show » Show » 752 82.6 No 8
ABCB7-005 ENSP00000436586
ENST00000529949
B4DGL8
Show all »
Show » Show » 702 77.1 No 8
ABCB7-006 ENSP00000343849
ENST00000339447
O75027
Show all »
Show » Show » 712 78.2 No 7
ABCB7-007 ENSP00000432813
ENST00000526404
E9PNQ5
Show all »
Show » 171 19 No 0
ABCB7-008 ENSP00000435521
ENST00000534524
E9PJR8
Show all »
Show » Show » 188 20.6 No 2
ABCB7-201 ENSP00000479985
ENST00000620875
Show » Show » 713 78.3 No 7