Gene

cacna1fb

ID
ZDB-GENE-031104-1
Name
calcium channel, voltage-dependent, L type, alpha 1F subunit
Symbol
cacna1fb Nomenclature History
Previous Names
  • cacna1f
  • ZfCav1.4 (1)
Type
protein_coding_gene
Location
Chr: 8 Mapping Details/Browsers
Description
Predicted to enable high voltage-gated calcium channel activity. Predicted to be involved in calcium ion import across plasma membrane. Predicted to act upstream of or within calcium ion transmembrane transport and regulation of monoatomic ion transmembrane transport. Predicted to be located in membrane. Predicted to be part of voltage-gated calcium channel complex. Is expressed in atrium; cardiac ventricle; and retinal inner nuclear layer. 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
Comparative Information
Expression
All Expression Data
4 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
la026425TgTransgenic insertionUnknownUnknownDNA
sa1442Allele with one point mutationUnknownSplice SiteENU
sa10599Allele with one point mutationUnknownPremature StopENU
sa14371Allele with one point mutationUnknownSplice SiteENU
sa34385Allele with one point mutationUnknownPremature StopENU
sa41191Allele with one point mutationUnknownPremature StopENU
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Sequence Targeting Reagents
No data available
Human Disease
Associated With cacna1fb 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
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Associated With cacna1fb Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Binding_site IPR018247 EF-Hand 1, calcium-binding site
Domain IPR005821 Ion transport domain
Domain IPR014873 Voltage-dependent calcium channel, alpha-1 subunit, IQ domain
Domain IPR031649 Voltage-dependent L-type calcium channel, IQ-associated domain
Domain IPR031688 Voltage-gated calcium channel subunit alpha, C-terminal
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Domain Details Per Protein
Protein Length EF-Hand 1, calcium-binding site Ion transport domain Voltage-dependent calcium channel alpha-1 subunit Voltage-dependent calcium channel, alpha-1 subunit Voltage-dependent calcium channel, alpha-1 subunit, IQ domain Voltage-dependent calcium channel, L-type, alpha-1 subunit Voltage-dependent channel domain superfamily Voltage-dependent L-type calcium channel, IQ-associated domain Voltage-gated calcium channel subunit alpha, C-terminal
UniProtKB:F1QH36 2065
UniProtKB:A0A8M9PQW6 2068
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 8
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA cacna1fb-201 (1) Ensembl 7,710 nt
mRNA cacna1fb-202 (1) Ensembl 4,835 nt
mRNA cacna1fb-203 (1) Ensembl 1,032 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-157C18ZFIN Curated Data
Contained inBACDKEY-70P6
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanCACNA1FX
Amino acid sequence comparison (2)
Conserved genome location (synteny) (1)
MouseCacna1fX
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Citations
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