Homo sapiens Gene: ABCB6
Summary
InnateDB Gene IDBG-81345.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABCB6
Gene Name ATP-binding cassette, sub-family B (MDR/TAP), member 6
Synonyms ABC; ABC14; DUH3; LAN; MCOPCB7; MTABC3; PRP; umat
Species Homo sapiens
Ensembl Gene ENSG00000115657
Encoded Proteins
ATP-binding cassette, sub-family B (MDR/TAP), member 6
ATP-binding cassette, sub-family B (MDR/TAP), member 6
ATP-binding cassette, sub-family B (MDR/TAP), member 6
ATP-binding cassette, sub-family B (MDR/TAP), member 6
ATP-binding cassette, sub-family B (MDR/TAP), member 6
ATP-binding cassette, sub-family B (MDR/TAP), member 6
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. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]
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 half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for lethal neonatal metabolic syndrome, a disorder of mitochondrial function. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 2:219209768-219218990
Strand Reverse strand
Band q35
Transcripts
ENST00000265316 ENSP00000265316
ENST00000295750 ENSP00000295750
ENST00000443805 ENSP00000414646
ENST00000448398 ENSP00000404006
ENST00000417678 ENSP00000392988
ENST00000452545 ENSP00000401811
ENST00000487380
ENST00000485773
ENST00000497882
ENST00000492543
ENST00000494639
ENST00000496984
ENST00000492953
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 13 experimentally validated interaction(s) in this database.
Experimentally validated
Total 13 [view]
Protein-Protein 8 [view]
Protein-DNA 5 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005524 ATP binding
GO:0015232 heme transporter activity
GO:0015439 heme-transporting ATPase activity
GO:0015562 efflux transmembrane transporter activity
GO:0016887 ATPase activity
GO:0020037 heme binding
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
Biological Process
GO:0006200 ATP catabolic process
GO:0006779 porphyrin-containing compound biosynthetic process
GO:0006810 transport
GO:0006879 cellular iron ion homeostasis
GO:0007420 brain development
GO:0015886 heme transport
GO:0043588 skin development
GO:0055085 transmembrane transport
Cellular Component
GO:0005739 mitochondrion
GO:0005740 mitochondrial envelope
GO:0005741 mitochondrial outer membrane
GO:0005768 endosome
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0005886 plasma membrane
GO:0016021 integral component of membrane
GO:0031307 integral component of mitochondrial outer membrane
GO:0043190 ATP-binding cassette (ABC) transporter complex
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
Mitochondrial ABC transporters pathway
ABC-family proteins mediated transport pathway
Transmembrane transport of small molecules pathway
KEGG
ABC transporters pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.107911
RefSeq NM_005689
HUGO
OMIM
CCDS CCDS2436
HPRD 09261
IMGT
EMBL
GenPept
RNA Seq Atlas