Gene

actc1b

ID

ZDB-GENE-000322-1

Name

actin alpha cardiac muscle 1b

Symbol

actc1b Nomenclature History

Previous Names

acta1
fa27h01
fb83f06
wu:fa27h01 (1)
wu:fb83f06 (1)

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Predicted to have ATP binding activity. Predicted to localize to actin cytoskeleton. Used to study nemaline myopathy. Human ortholog(s) of this gene implicated in atrial heart septal defect 5; dilated cardiomyopathy; dilated cardiomyopathy 1R; and hypertrophic cardiomyopathy 11. Is expressed in several structures, including EVL; mesoderm; musculature system; pericardial region; and trunk. Orthologous to human ACTC1 (actin alpha cardiac muscle 1).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

36 figures from 20 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

MGC:55618 (11 images)
eu184 (1 image)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 6 figures from 2 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With actc1b Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
atrial heart septal defect 5	Alliance	Atrial septal defect 5	612794
dilated cardiomyopathy 1R	Alliance	Cardiomyopathy, dilated, 1R	613424
dilated cardiomyopathy 1R	Alliance	Left ventricular noncompaction 4	613424
hypertrophic cardiomyopathy 11	Alliance	Cardiomyopathy, hypertrophic, 11	612098

Associated With actc1b Via Experimental Models

Human Disease	Fish	Conditions	Citations
nemaline myopathy	WT + MO1-actc1b	standard conditions	Sztal et al., 2015
nemaline myopathy	WT + MO2-actc1b	standard conditions	Sztal et al., 2015

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR004001	Actin, conserved site
Conserved_site	IPR020902	Actin/actin-like conserved site
Family	IPR004000	Actin family
Homologous_superfamily	IPR043129	ATPase, nucleotide binding domain

Domain Details Per Protein

Protein	Length	Actin/actin-like conserved site	Actin, conserved site	Actin family	ATPase, nucleotide binding domain
UniProtKB:Q9I8V1 InterPro	377

Transcripts

Genome Browsers

NCBI

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	actc1b-201 (1) Ensembl	Ensembl		1,246 nt	Select Tool ZFIN BLAST
mRNA	actc1b-202 (1) Ensembl	Ensembl		1,772 nt	Select Tool ZFIN BLAST

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