Gene

cavin1a

ID
ZDB-GENE-091204-151
Name
caveolae associated protein 1a
Symbol
cavin1a Nomenclature History
Previous Names
  • ptrfa
  • si:ch211-209d14.2
Type
protein_coding_gene
Location
Chr: 3 Mapping Details/Browsers
Description
A structural constituent of muscle. Predicted to be involved in termination of RNA polymerase I transcription and transcription initiation at RNA polymerase I promoter. Predicted to be located in membrane. Predicted to be active in caveola and cytoplasm. Is expressed in myotome. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 4. Orthologous to human CAVIN1 (caveolae associated protein 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
1 figure from Lo et al., 2015
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Lo et al., 2015
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
ka738Allele with one deletionUnknownUnknownCRISPR
uq10rpunknownUnknownUnknownCRISPR
1 - 2 of 2
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Sequence Targeting Reagents
1 - 4 of 4
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Human Disease
Associated With cavin1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
congenital generalized lipodystrophy type 4 Alliance Lipodystrophy, congenital generalized, type 4 613327
1 - 1 of 1
Associated With cavin1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR026752 Cavin family
1 - 1 of 1
Domain Details Per Protein
Protein Additional Resources Length Cavin family
UniProtKB:E7F0K3 InterPro 415
1 - 1 of 1
Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 3
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA cavin1a-201 (1) Ensembl 2,156 nt
1 - 1 of 1
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
Construct Regulatory Region Coding Sequence Species Tg Lines Citations
Tg(actc1b:cavin1a-mClover)
  • Danio rerio
1 (2)
1 - 1 of 1
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Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-209D14ZFIN Curated Data
Contained inBACCH211-222D3ZFIN Curated Data
1 - 2 of 2
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanCAVIN117
Amino acid sequence comparison (1)
Conserved genome location (synteny) (1)
Phylogenetic tree (1)
MouseCavin111
Conserved genome location (synteny) (1)
Amino acid sequence comparison (1)
Citations
1 - 8 of 8
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