Gene

actb1

ID

ZDB-GENE-000329-1

Name

actin, beta 1

Symbol

actb1 Nomenclature History

Previous Names

bact
actine (1)
B-ACTZF
bactin1 (1)
wu:fd18f05 (1)

Type

protein_coding_gene

Location

Chr: 1 Mapping Details/Browsers

Description

Predicted to be a structural constituent of postsynaptic actin cytoskeleton. Predicted to be involved in synaptic vesicle endocytosis. Predicted to localize to several cellular components, including actin filament; dense body; and focal adhesion. Human ortholog(s) of this gene implicated in Baraitser-Winter syndrome and autosomal dominant nonsyndromic deafness 20. Is expressed in several structures, including eye; hematopoietic cell; liver; male organism; and pleuroperitoneal region. Orthologous to several human genes including ACTB (actin beta).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

36 figures from 33 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:55989 (1 image)

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 actb1 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Baraitser-Winter syndrome 1	Alliance	Baraitser-Winter syndrome 1	243310
		Becker nevus, syndromic or isolated, somatic mosaic	604919
		Congenital smooth muscle hamartoma with or without hemihypertrophy, somatic mosaic	620470
		Dystonia-deafness syndrome 1	607371
		Thrombocytopenia 8, with dysmorphic features and developmental delay	620475

Associated With actb1 Via Experimental Models

No data available

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:Q7ZVI7 InterPro	375

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	actb1-201 (1) Ensembl	Ensembl	1,788 nt	Select Tool ZFIN BLAST
mRNA	actb1-202 (1) Ensembl	Ensembl	1,019 nt	Select Tool ZFIN BLAST
mRNA	actb1-204 (1) Ensembl	Ensembl	796 nt	Select Tool ZFIN BLAST
mRNA	actb1-205 (1) Ensembl	Ensembl	924 nt	Select Tool ZFIN BLAST
mRNA	actb1-207 (1) Ensembl	Ensembl	1,215 nt	Select Tool ZFIN BLAST
ncRNA	actb1-003 (1) Ensembl	Ensembl	769 nt	Select Tool ZFIN BLAST
ncRNA	actb1-006 (1) Ensembl	Ensembl	856 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-actb1	polyclonal	actb1		Rabbit	IHC WB	AnaSpec	3

Plasmids

Addgene:ZP9 Actin

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations