ABCB8 - ATP binding cassette subfamily B member 8 Gene

Homo sapiens

Also known as MABC1; M-ABC1; MITOSUR; EST328128

Gene ID: 11194 | Gene type: protein coding

About ABCB8

Cytogenetic location: 7q36.1 Genomic coordinates (GRCh38): 7:151,028,450-151,047,782 (from NCBI)

This gene has 22 transcripts (splice variants), 201 orthologues and 10 paralogues. Ubiquitous expression in testis (RPKM 5.6), endometrium (RPKM 5.4) and 25 other tissues.

Summary

This nuclear gene encodes a multi-pass membrane protein that is targeted to the mitochondrial inner membrane. The encoded protein is an ATP-dependent transporter that may mediate the passage of organic and inorganic molecules out of the mitochondria. Loss of function of the related gene in mouse results in a disruption of iron homeostasis between the mitochondria and cytosol. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ABCB8 Products(4)

mRNA	Protein	Name
NM_001282291.2	NP_001269220.1	mitochondrial potassium channel ATP-binding subunit isoform a
NM_001282292.2	NP_001269221.1	mitochondrial potassium channel ATP-binding subunit isoform c
NM_001282293.2	NP_001269222.1	mitochondrial potassium channel ATP-binding subunit isoform d
NM_007188.5	NP_009119.2	mitochondrial potassium channel ATP-binding subunit isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables ATP binding	IDA IDA: Inferred from direct assay	31435016	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25063848	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cell volume homeostasis	IDA IDA: Inferred from direct assay	31435016	GOA
involved in mitochondrial potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	31435016	GOA
involved in potassium ion transmembrane transport	IDA IDA: Inferred from direct assay	31435016	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of mitochondrial ATP-gated potassium channel complex	IDA IDA: Inferred from direct assay	31435016	GOA
part of mitochondrial ATP-gated potassium channel complex	IPI IPI: Inferred from physical interaction	31435016	GOA
located in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	3145016	GOA
located in mitochondrial membrane	IDA IDA: Inferred from direct assay	9878413	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	22655043	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ABCB8 Protein Structure

ABC_membrane

ABC_tran

0
200
400
600
735 a.a.

Protein Preferred Names

Protein Names

mitochondrial potassium channel ATP-binding subunit

ATP-binding cassette sub-family B member 8, mitochondrial

ABCB8 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	ABCB8	Q9NUT2	CCDC51	Homo sapiens	Q96ER9	Anti Bait CoIP	31435016
Intra	ABCB8	Q9NUT2	CCDC51	Homo sapiens	Q96ER9	BN-PAGE	31435016

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Anemia, Sideroblastic, And Spinocerebellar Ataxia

X-Linked Sideroblastic Anemia With Ataxia	ASAT
X-Linked Sideroblastic Anemia And Ataxia	X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia
Anemia, Sideroblastic, With Ataxia	Anemia Sideroblastic And Spinocerebellar Ataxia
Pagon Bird Detter Syndrome	Pagon-Bird-Detter Syndrome
Xlsa-A	X-Linked Sideroblastic Anaemia And Ataxia
X-Linked Sideroblastic Anaemia With Ataxia	Sideroblastic Anemia With Spinocerebellar Ataxia
Xlsa/A	Anemia, Sideroblastic, Spinocerebellar Ataxia
Sideroblastic Anemia And Ataxia	Anemia Sideroblastic, And Spinocerebellar Ataxia

Acheiropody

Acheiropodia	ACHP
Acheiropody, Brazilian Type	Horn-Kolb Syndrome
Horn Kolb Syndrome	Acheiropody Brazilian Type

Tick Infestation

Tick Infestations

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00055	ABCB8 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	ABCB8	VGNC	VGNC:81284
Canis familiaris	ABCB8	VGNC	VGNC:37436
Felis catus	ABCB8	VGNC	VGNC:69336
Mus musculus	ABCB8	MGD	MGI:1351667
Rattus norvegicus	ABCB8	RGD	RGD:1307655
Bos taurus	ABCB8	VGNC	VGNC:25466

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