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

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

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:A0A8M3AZC5 InterPro	897
UniProtKB:A0A8M9QJP5 InterPro	654
UniProtKB:A0A8M2B3U1 InterPro	924
UniProtKB:A0A8M3B5E5 InterPro	897
UniProtKB:A0A8M3B867 InterPro	902
UniProtKB:B8JHU4 InterPro	902

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
aberrant processed transcript	actn1-202 (1) Ensembl	Havana	3658 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
aberrant processed transcript	actn1-203 (1) Ensembl	Havana	993 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	actn1-205 (1) Ensembl	Havana	3981 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	actn1-004 (1) Ensembl	Havana	932 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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