Gene

abcb6a

ID
ZDB-GENE-050517-9
Name
ATP-binding cassette, sub-family B (MDR/TAP), member 6a
Symbol
abcb6a Nomenclature History
Previous Names
  • abcb6
Type
protein_coding_gene
Location
Chr: 1 Mapping Details/Browsers
Description
Predicted to have ABC-type heme transporter activity and heme binding activity. Involved in iris morphogenesis and melanocyte proliferation. Predicted to localize to integral component of membrane and vacuolar membrane. Human ortholog(s) of this gene implicated in dyschromatosis universalis hereditaria. Orthologous to human ABCB6 (ATP binding cassette subfamily B member 6 (Langereis blood group)).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Wang et al., 2012
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
3 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With abcb6a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
dyschromatosis universalis hereditaria Alliance Dyschromatosis universalis hereditaria 3 615402
Microphthalmia, isolated, with coloboma 7 614497
Pseudohyperkalemia, familial, 2, due to red cell leak 609153
[Blood group, Langereis system] 111600
Associated With abcb6a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR017871 ABC transporter, conserved site
Domain IPR003439 ABC transporter-like
Domain IPR003593 AAA+ ATPase domain
Domain IPR011527 ABC transporter type 1, transmembrane domain
Domain IPR032410 Mitochondrial ABC-transporter, N-terminal five TM domain
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR036640 ABC transporter type 1, transmembrane domain superfamily
Domain Details Per Protein
Protein Length AAA+ ATPase domain ABC transporter, conserved site ABC transporter-like ABC transporter type 1, transmembrane domain ABC transporter type 1, transmembrane domain superfamily Mitochondrial ABC-transporter, N-terminal five TM domain P-loop containing nucleoside triphosphate hydrolase
UniProtKB:A0A2R8RXI2 800
UniProtKB:F1QCK2 851
UniProtKB:A9JTH5 805
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations