ZFIN is now using GRCz12tu for Genomic Data
Gene
acta1a
- ID
- ZDB-GENE-050417-267
- Name
- actin alpha 1, skeletal muscle a
- Symbol
- acta1a Nomenclature History
- Previous Names
-
- hm:zeh0293
- zeh0293
- zgc:112098
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Acts upstream of or within skeletal muscle fiber development. Predicted to be located in cytoskeleton. Predicted to be active in actin cytoskeleton. Is expressed in several structures, including adaxial cell; fin; musculature system; pericardial region; and trunk. Human ortholog(s) of this gene implicated in congenital myopathy 2B; congenital myopathy 2C; and nemaline myopathy 3. Orthologous to human ACTA1 (actin alpha 1, skeletal muscle).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 23 figures from 11 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:112098 (17 images)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| sa9336 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa18713 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa19610 | Allele with one point mutation | Unknown | Splice Site | ENU | |
| zko1075a | Allele with one deletion | Unknown | Unknown | CRISPR | |
| zko1075b | Allele with one delins | Unknown | Unknown | CRISPR |
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| Targeting Reagent | Created Alleles | Citations |
|---|---|---|
| CRISPR1-acta1a | (2) | |
| CRISPR2-acta1a | (2) | |
| CRISPR3-acta1a | (2) | |
| CRISPR4-acta1a | Ding et al., 2022 |
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Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myopathy 2B | Alliance | Congenital myopathy 2B, severe infantile, autosomal recessive | 620265 |
| congenital myopathy 2C | Alliance | Congenital myopathy 2C, severe infantile, autosomal dominant | 620278 |
| nemaline myopathy 3 | Alliance | Congenital myopathy 2A, typical, autosomal dominant | 161800 |
| ?Myopathy, scapulohumeroperoneal | 616852 |
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Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Actin/actin-like conserved site | Actin, conserved site | Actin family | ATPase, nucleotide binding domain |
|---|---|---|---|---|---|---|
| UniProtKB:Q567E8 | InterPro | 377 | ||||
| UniProtKB:A0AB32TN73 | InterPro | 377 |
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| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
acta1a-201
(1)
|
Ensembl | 1,612 nt | ||
| ncRNA |
acta1a-002
(1)
|
Ensembl | 557 nt |
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Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-133L11 | ZFIN Curated Data | |
| Encodes | EST | fb19e10 | Rauch et al., 2003 | |
| Encodes | EST | zeh0293 | ||
| Encodes | cDNA | MGC:112098 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:191650 | ZFIN Curated Data |
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| Type | Accession # | Genome Assembly | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001017750 (1) | 1600 nt | ||
| Genomic | GenBank:AL929114 (1) | 180158 nt | ||
| Polypeptide | UniProtKB:A0AB32TN73 (1) | 377 aa |
No data available