Gene

cacna1fa

ID
ZDB-GENE-091204-7
Name
calcium channel, voltage-dependent, L type, alpha 1F subunit a
Symbol
cacna1fa Nomenclature History
Previous Names
  • si:ch73-289n4.1
  • wait until dark (1)
  • wud (1)
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Predicted to have high voltage-gated calcium channel activity. Involved in synapse organization. Predicted to localize to voltage-gated calcium channel complex. Is expressed in heart; photoreceptor cell; and retina. Used to study congenital stationary night blindness. Human ortholog(s) of this gene implicated in Aland Island eye disease; X-linked cone-rod dystrophy 3; congenital stationary night blindness; and congenital stationary night blindness 2A. Orthologous to human CACNA1F (calcium voltage-gated channel subunit alpha1 F).
Genome Resources
Note
None
Expression
All Expression Data
7 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
9 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With cacna1fa Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Aland Island eye disease Alliance Aland Island eye disease 300600
congenital stationary night blindness 2A Alliance Night blindness, congenital stationary (incomplete), 2A, X-linked 300071
X-linked cone-rod dystrophy 3 Alliance Cone-rod dystrophy, X-linked, 3 300476
Associated With cacna1fa Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR005821 Ion transport domain
Family IPR002077 Voltage-dependent calcium channel, alpha-1 subunit
Family IPR005446 Voltage-dependent calcium channel, L-type, alpha-1 subunit
Homologous_superfamily IPR027359 Voltage-dependent channel domain superfamily
Domain Details Per Protein
Protein Length Ion transport domain Voltage-dependent calcium channel, alpha-1 subunit Voltage-dependent calcium channel, L-type, alpha-1 subunit Voltage-dependent channel domain superfamily
UniProtKB:A0A2R8Q2C7 303
UniProtKB:F1QGT9 659
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-cacna1fa polyclonal Rabbit
  • IHC
4
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations