Cell atlas - ABCB7 - The Human Protein Atlas

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ABCB7

TISSUE

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CELL

PATHOLOGY

CELL ATLAS RNA EXPRESSION HUMAN CELLS

GENE/PROTEIN

Antibody validation

Dictionary
	Mitochondria

Human cell
	Mitochondria

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GENERAL INFORMATION
Gene name	ABCB7
Gene description	ATP-binding cassette, sub-family B (MDR/TAP), member 7
Protein class	Disease related genes 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
Summary	Localized to the mitochondria.
RNA cell category	Expressed in all
Protein evidence	Evidence at protein level
Main location	Localized to the Mitochondria (supported)

DATA RELIABILITY
Reliability score	Supported based on 1 antibody. HPA034982
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ASSAYS

RNA EXPRESSION OVERVIEW
RNA cell line category: Expressed in all Organ Origin Category Expression Alphabetical Cell lines sorted after organ of phenotypic resemblance. Cell lines sorted after biological source for establishment. Cell lines sorted after the cell line category according to Cellosaurus. Cell lines sorted on descending RNA expression. Cell lines sorted alphabetically.

HUMAN CELLS

Summary

Localized to the mitochondria.

Main location

Mitochondria (supported)


	Toggle channels	Low High G1 S G2 M N/A

Thumbnail	Antibody	Cell line	Location	Single-cell variation	Cell cycle dependent variation
	HPA034982	A-431	Mitochondria
	HPA034982	U-2 OS	Mitochondria

GENE INFORMATION
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 83.38)
Entrez gene	22
UniProt	O75027 (UniProt - Evidence at protein level)
neXtProt	NX_O75027
Antibodypedia	ABCB7 antibodies

PROTEIN BROWSER

ABCB7-001	ABCB7-002	ABCB7-005	ABCB7-006	ABCB7-007	ABCB7-008	ABCB7-201

PROTEIN INFORMATION
Splice variant	UniProt	Protein class	Gene ontology	Length & mass	Signal peptide (predicted)	Transmembrane regions (predicted)
ABCB7-001 ENSP00000253577 ENST00000253577	O75027 [Direct mapping] ATP-binding cassette sub-family B member 7, mitochondrial Show all	Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 8TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014) Show all	GO:0005524 [ATP binding] GO:0005739 [mitochondrion] GO:0005743 [mitochondrial inner membrane] GO:0006810 [transport] GO:0006879 [cellular iron ion homeostasis] GO:0015232 [heme transporter activity] GO:0015886 [heme transport] GO:0016021 [integral component of membrane] GO:0016887 [ATPase activity] GO:0042626 [ATPase activity, coupled to transmembrane movement of substances] GO:0044281 [small molecule metabolic process] GO:0055085 [transmembrane transport] Show all	753 aa 82.8 kDa	No	8
ABCB7-002 ENSP00000362492 ENST00000373394	O75027 [Direct mapping] ATP-binding cassette sub-family B member 7, mitochondrial Show all	Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 8TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0005524 [ATP binding] GO:0005739 [mitochondrion] GO:0005743 [mitochondrial inner membrane] GO:0006810 [transport] GO:0006879 [cellular iron ion homeostasis] GO:0015232 [heme transporter activity] GO:0015886 [heme transport] GO:0016021 [integral component of membrane] GO:0016887 [ATPase activity] GO:0042626 [ATPase activity, coupled to transmembrane movement of substances] GO:0044281 [small molecule metabolic process] GO:0055085 [transmembrane transport] Show all	752 aa 82.6 kDa	No	8
ABCB7-005 ENSP00000436586 ENST00000529949	B4DGL8 [Direct mapping] ATP-binding cassette sub-family B member 7, mitochondrial; cDNA FLJ53391, highly similar to ATP-binding cassette sub-family B member 7, mitochondrial Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 8TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005524 [ATP binding] GO:0005739 [mitochondrion] GO:0006810 [transport] GO:0006879 [cellular iron ion homeostasis] GO:0008152 [metabolic process] GO:0016021 [integral component of membrane] GO:0016887 [ATPase activity] GO:0042626 [ATPase activity, coupled to transmembrane movement of substances] GO:0055085 [transmembrane transport] Show all	702 aa 77.1 kDa	No	8
ABCB7-006 ENSP00000343849 ENST00000339447	O75027 [Direct mapping] ATP-binding cassette sub-family B member 7, mitochondrial Show all	Transporters Primary Active Transporters Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 7TM proteins predicted by MDM Plasma proteins Disease related genes Potential drug targets Protein evidence (Ezkurdia et al 2014) Show all	GO:0005524 [ATP binding] GO:0005739 [mitochondrion] GO:0005743 [mitochondrial inner membrane] GO:0006810 [transport] GO:0006879 [cellular iron ion homeostasis] GO:0015232 [heme transporter activity] GO:0015886 [heme transport] GO:0016021 [integral component of membrane] GO:0016887 [ATPase activity] GO:0042626 [ATPase activity, coupled to transmembrane movement of substances] GO:0044281 [small molecule metabolic process] GO:0055085 [transmembrane transport] Show all	712 aa 78.2 kDa	No	7
ABCB7-007 ENSP00000432813 ENST00000526404	E9PNQ5 [Direct mapping] ATP-binding cassette sub-family B member 7, mitochondrial Show all	Predicted intracellular proteins Protein evidence (Ezkurdia et al 2014) Show all	GO:0005623 [cell] GO:0006879 [cellular iron ion homeostasis] GO:0016021 [integral component of membrane] GO:0055085 [transmembrane transport] Show all	171 aa 19 kDa	No	0
ABCB7-008 ENSP00000435521 ENST00000534524	E9PJR8 [Direct mapping] ATP-binding cassette sub-family B member 7, mitochondrial Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 2TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005524 [ATP binding] GO:0005623 [cell] GO:0006810 [transport] GO:0006879 [cellular iron ion homeostasis] GO:0016021 [integral component of membrane] GO:0042626 [ATPase activity, coupled to transmembrane movement of substances] GO:0055085 [transmembrane transport] Show all	188 aa 20.6 kDa	No	2
ABCB7-201 ENSP00000479985 ENST00000620875	A0A087WW65 [Direct mapping] ATP-binding cassette sub-family B member 7, mitochondrial Show all	Predicted membrane proteins Prediction method-based Membrane proteins predicted by MDM MEMSAT3 predicted membrane proteins MEMSAT-SVM predicted membrane proteins Phobius predicted membrane proteins SCAMPI predicted membrane proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins TMHMM predicted membrane proteins # TM segments-based 7TM proteins predicted by MDM Protein evidence (Ezkurdia et al 2014) Show all	GO:0005524 [ATP binding] GO:0005623 [cell] GO:0006810 [transport] GO:0006879 [cellular iron ion homeostasis] GO:0008152 [metabolic process] GO:0016021 [integral component of membrane] GO:0016887 [ATPase activity] GO:0042626 [ATPase activity, coupled to transmembrane movement of substances] GO:0055085 [transmembrane transport] Show all	713 aa 78.3 kDa	No	7

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The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.