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Abcb6
Gene Detail
 Symbol
Name
ID
Abcb6
ATP-binding cassette, sub-family B (MDR/TAP), member 6
MGI:1921354
Synonyms 1200005B17Rik
Feature Type protein coding gene
Genetic Map
Chromosome 1
38.62 cM, cytoband C3
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr1:75171717-75180392 bp, - strand
From VEGA annotation of GRCm38

  8676 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11375  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 chicken; 1 zebrafish

Protein SuperFamily: ATP-binding cassette sub-family B member 7, mitochondrial precurso
Gene Tree: Abcb6

Human
homologs
Human Homolog ABCB6, ATP-binding cassette, sub-family B (MDR/TAP), member 6
NCBI Gene ID 10058
neXtProt AC  NX_Q9NP58
Human Synonyms  ABC, ABC14, DUH3, LAN, MCOPCB7, MTABC3, PRP, umat
Human Chr (Location)  2q36; chr2:219209766-219218990 (-)  GRCh38
Disease Associations  (2) Diseases Associated with Human ABCB6
Alleles
and
phenotypes
All alleles(5) : Targeted(4) Gene trapped(1)
 
Mice homozygous for a null mutation display partial lethality, impaired stress erythropoiesis, and absence of ATP-dependent transport of Coproporphyrin III in mitochondria.
 
Gene Ontology
(GO)
classifications
All GO classifications: (31 annotations)
Process ATP catabolic process, brain development, ...
Component endoplasmic reticulum, endosome, ...
Function ATPase activity, ATPase activity, coupled to transmembrane movement of substances, ...
External Resources: FuncBase
Expression
Literature Summary: (4 records)
Data Summary: Results (171)    Tissues (125)    Images (38)
Theiler Stages: 19, 22, 23, 28
Assay TypeResults
RNA in situ 171
cDNA source data(79)
External Resources: Allen Institute   GENSAT   GEO   ArrayExpress
Molecular
reagents
All nucleic(79) cDNA(79)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000034720 (Evidence)
Ensembl Gene ModelENSMUSG00000026198 (Evidence)
Entrez Gene74104 (Evidence)
UniGene28663
DFCITC1576388, TC1659941
DoTSDT.101725997, DT.110907893, DT.533910, DT.99859064
NIA Mouse Gene IndexU021492
Consensus CDS ProjectCCDS15065.1
International Mouse Knockout Project StatusAbcb6
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034720 VEGA Gene Model | MGI Sequence Detail 8676 C57BL/6J ±  kb
transcript OTTMUST00000088204 VEGA | MGI Sequence Detail 2966 Not Applicable 
polypeptide OTTMUSP00000048059 VEGA | MGI Sequence Detail 842 Not Applicable 

For the selected sequences
All sequences(54) RefSeq(4) UniProt(3)
Polymorphisms SNPs within 2kb(89 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR003593 AAA+ ATPase domain
InterPro IPR017871 ABC transporter, conserved site
InterPro IPR003439 ABC transporter-like
InterPro IPR001140 ABC transporter, transmembrane domain
InterPro IPR011527 ABC transporter, transmembrane domain, type 1
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
Protein Ontology PR:000003551 ATP-binding cassette sub-family B member 6, mitochondrial
References (Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:205748 Zhang C, et al., Mutations in ABCB6 cause dyschromatosis universalis hereditaria. J Invest Dermatol. 2013 Sep;133(9):2221-8
All references(42)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
04/08/2014
MGI 5.17
The Jackson Laboratory