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
34 figures from 31 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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 620479
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 375
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-actb1 polyclonal Rabbit
  • IHC
  • WB
AnaSpec
3
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations