Gene

actn1

ID
ZDB-GENE-081113-4
Name
actinin, alpha 1
Symbol
actn1 Nomenclature History
Previous Names
None
Type
protein_coding_gene
Location
Chr: 13 Mapping Details/Browsers
Description
Predicted to have actin filament binding activity and calcium ion binding activity. Predicted to be involved in actin crosslink formation and actin filament bundle assembly. Human ortholog(s) of this gene implicated in platelet-type bleeding disorder 15. Is expressed in several structures, including head muscle; intestine; nervous system; ovary; and ventral intermandibularis anterior. Orthologous to human ACTN1 (actinin alpha 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
5 figures from 2 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
Sequence Targeting Reagents
Human Disease
Associated With actn1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
platelet-type bleeding disorder 15 Alliance Bleeding disorder, platelet-type, 15 615193
Associated With actn1 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
Conserved_site IPR001589 Actinin-type actin-binding domain, conserved site
Domain IPR001715 Calponin homology domain
Domain IPR002048 EF-hand domain
Domain IPR014837 EF-hand, Ca insensitive
Homologous_superfamily IPR011992 EF-hand domain pair
Homologous_superfamily IPR036872 CH domain superfamily
Repeat IPR002017 Spectrin repeat
Repeat IPR018159 Spectrin/alpha-actinin
Domain Details Per Protein
Protein Length Actinin-type actin-binding domain, conserved site Calponin homology domain CH domain superfamily EF-Hand 1, calcium-binding site EF-hand, Ca insensitive EF-hand domain EF-hand domain pair Spectrin/alpha-actinin Spectrin repeat
UniProtKB:D1GJ54 883
UniProtKB:F1QER4 209
UniProtKB:B8JHU4 902
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