Homo sapiens Gene: ABCB8
Summary
InnateDB Gene IDBG-48655.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABCB8
Gene Name ATP-binding cassette, sub-family B (MDR/TAP), member 8
Synonyms EST328128; M-ABC1; MABC1;
Species Homo sapiens
Ensembl Gene ENSG00000197150
Encoded Proteins
ATP-binding cassette, sub-family B (MDR/TAP), member 8
ATP-binding cassette, sub-family B (MDR/TAP), member 8
ATP-binding cassette, sub-family B (MDR/TAP), member 8
ATP-binding cassette, sub-family B (MDR/TAP), member 8
ATP-binding cassette, sub-family B (MDR/TAP), member 8
ATP-binding cassette, sub-family B (MDR/TAP), member 8
ATP-binding cassette, sub-family B (MDR/TAP), member 8
ATP-binding cassette, sub-family B (MDR/TAP), member 8
ATP-binding cassette, sub-family B (MDR/TAP), member 8
ATP-binding cassette, sub-family B (MDR/TAP), member 8
ATP-binding cassette, sub-family B (MDR/TAP), member 8
ATP-binding cassette, sub-family B (MDR/TAP), member 8
ATP-binding cassette, sub-family B (MDR/TAP), member 8
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
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. The function of this half-transporter has not yet been determined; however, it may involve the compartmentalization and transport of heme, as well as peptides, from the mitochondria to the nucleus and cytosol. This protein may also play a role in the transport of phospholipids into mitochondrial membranes. [provided by RefSeq, Jul 2008]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:151028422-151047782
Strand Forward strand
Band q36.1
Transcripts
ENST00000358849 ENSP00000351717
ENST00000297504 ENSP00000297504
ENST00000461373 ENSP00000417563
ENST00000482309 ENSP00000419014
ENST00000488826
ENST00000489192 ENSP00000418970
ENST00000471796
ENST00000462605
ENST00000466956
ENST00000470645 ENSP00000420216
ENST00000466514 ENSP00000420631
ENST00000498578 ENSP00000418271
ENST00000477719 ENSP00000419891
ENST00000477092 ENSP00000419558
ENST00000472698
ENST00000488370
ENST00000488551 ENSP00000418316
ENST00000469410
ENST00000493338
ENST00000491920 ENSP00000420162
ENST00000482899
ENST00000542328 ENSP00000438776
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 12 experimentally validated interaction(s) in this database.
Experimentally validated
Total 12 [view]
Protein-Protein 10 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005215 transporter activity
GO:0005524 ATP binding
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:0055085 transmembrane transport
Cellular Component
GO:0005634 nucleus
GO:0005730 nucleolus
GO:0005739 mitochondrion
GO:0005740 mitochondrial envelope
GO:0005743 mitochondrial inner membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0043190 ATP-binding cassette (ABC) transporter complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transmembrane transport of small molecules pathway
ABC-family proteins mediated transport pathway
Mitochondrial ABC transporters pathway
KEGG
ABC transporters pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.647118 Hs.649700 Hs.735539
RefSeq NM_001282291 NM_001282292 NM_001282293 NM_007188
HUGO
OMIM
CCDS CCDS5913 CCDS64798 CCDS64799 CCDS64800
HPRD 10400
IMGT
EMBL
GenPept
RNA Seq Atlas