Gene

atp6v1ab

ID
ZDB-GENE-030131-9529
Name
ATPase H+ transporting V1 subunit Ab
Symbol
atp6v1ab Nomenclature History
Previous Names
  • atp6v1a
  • im:7154831
  • wu:fj85a05
Type
protein_coding_gene
Location
Chr: 24 Mapping Details/Browsers
Description
Predicted to have proton-transporting ATPase activity, rotational mechanism. Predicted to be involved in ATP metabolic process and proton transmembrane transport. Predicted to localize to apical plasma membrane and vacuolar membrane. Is expressed in several structures, including integument ionocyte; lateral line ganglion; neural crest; yolk; and yolk syncytial layer. Human ortholog(s) of this gene implicated in autosomal recessive cutis laxa type IID and childhood onset epileptic encephalopathy. Orthologous to human ATP6V1A (ATPase H+ transporting V1 subunit A).
Genome Resources
Note
None
Expression
All Expression Data
15 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With atp6v1ab Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal recessive cutis laxa type IID Alliance Cutis laxa, autosomal recessive, type IID 617403
Epileptic encephalopathy, infantile or early childhood, 3 618012
Associated With atp6v1ab Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Active_site IPR020003 ATPase, alpha/beta subunit, nucleotide-binding domain, active site
Domain IPR000194 ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain
Domain IPR004100 ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain
Domain IPR031686 ATPsynthase alpha/beta subunit, N-terminal extension
Family IPR005725 ATPase, V1 complex, subunit A
Family IPR022878 V-type ATP synthase catalytic alpha chain
Homologous_superfamily IPR023366 ATP synthase subunit alpha, N-terminal domain-like superfamily
Homologous_superfamily IPR024034 ATPase, F1/V1 complex, beta/alpha subunit, C-terminal
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
Homologous_superfamily IPR036121 ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain superfamily
Domain Details Per Protein
Protein Length ATPase, alpha/beta subunit, nucleotide-binding domain, active site ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain ATPase, F1/V1/A1 complex, alpha/beta subunit, N-terminal domain superfamily ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain ATPase, F1/V1 complex, beta/alpha subunit, C-terminal ATPase, V1 complex, subunit A ATPsynthase alpha/beta subunit, N-terminal extension ATP synthase subunit alpha, N-terminal domain-like superfamily P-loop containing nucleoside triphosphate hydrolase V-type ATP synthase catalytic alpha chain
UniProtKB:E7FCD8 617
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations