| ZFIN ID: ZDB-GENE-030131-55 |
| Gene Name: | actin alpha 1, skeletal muscle b | |||||||||||||
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| Gene Symbol: | acta1b Nomenclature History |
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Attributions
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| Previous Names: | actc1, actc (1), cfk (1), cardiofunk, hm:zeh0631, zeh0631 | |||||||||||||
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| Gene Type: | protein_coding_gene | |||||||||||||
| Location: | Chr: 13 Mapping Details/Browsers | |||||||||||||
| Description: | Predicted to have ATP binding activity. Involved in embryonic heart tube development and skeletal muscle fiber development. Predicted to localize to actin cytoskeleton. Is expressed in several structures, including cardiovascular system; eye; fast muscle myoblast; segmental plate; and trunk. Human ortholog(s) of this gene implicated in nemaline myopathy 3. Orthologous to human ACTA1 (actin alpha 1, skeletal muscle). | |||||||||||||
| Genome Resources: | Alliance (1), Gene:407658 (1), Ensembl(GRCz11):ENSDARG00000055618 (2) | |||||||||||||
| All Expression Data: | 17 figures from 13 publications |
| Wild-type Stages, Structures: | Segmentation:5-9 somites (11.66h-14.0h) to Adult (90d-730d, breeding adult) |
MUTATIONS AND SEQUENCE TARGETING REAGENTS
| Allele | Type | Localization | Consequence | Mutagen | Suppliers |
|---|---|---|---|---|---|
| s11 | Point Mutation | Unknown | Unknown | ENU | |
| sa10892 | Point Mutation | Unknown | Premature Stop | ENU |
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| sa35480 | Point Mutation | Unknown | Premature Stop | ENU |
|
Sequence Targeting Reagents
| Targeting Reagent | Created Alleles | Publications |
|---|---|---|
| MO1-acta1b | N/A | 1 |
PHENOTYPE
| Data: | 2 figures from 2 publications |
| Observed in: |
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital fiber-type disproportion | Alliance | Myopathy, congenital, with fiber-type disproportion 1 | 255310 |
| nemaline myopathy 3 | Alliance | Myopathy, actin, congenital, with cores | 161800 |
| Myopathy, actin, congenital, with excess of thin myofilaments | 161800 | ||
| Nemaline myopathy 3, autosomal dominant or recessive | 161800 | ||
| ?Myopathy, scapulohumeroperoneal | 616852 |
GENE ONTOLOGY
| Ontology | GO Term |
|---|---|
| Biological Process | skeletal muscle fiber development (more) |
| Cellular Component | cytoplasm (more) |
| Molecular Function | ATP binding (more) |
| Type | Name | Length (nt) | Analysis | |
|---|---|---|---|---|
| mRNA |
acta1b-201
(1)
|
1542 |
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|
| Browsers: UCSC, NCBI, Ensembl, ZFIN |
INTERACTIONS AND PATHWAYS
ANTIBODIES
No data available
PLASMIDS
No data available
CONSTRUCTS WITH SEQUENCES FROM acta1b
No data available
MARKER RELATIONSHIPS
| acta1b Contained in: | [BAC] DKEY-162B3 (1) (order this) |
| acta1b Encodes: |
[EST]
zeh0631
[cDNA] MGC:110101 (1) |
| acta1b Has Artifact: | [EST] fc12a01 |
SEQUENCE INFORMATION
| Type | Accession # | Length (nt/aa) | Analysis |
|---|---|---|---|
| RNA | RefSeq:NM_214784 (1) | 1522 nt |
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| Genomic | GenBank:CR762497 (1) | 258636 nt | Blast at MegaBLAST |
| Polypeptide | UniProtKB:Q4KMI7 (1) | 377 aa |
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ORTHOLOGY for acta1b (
Chr:
13
)
CITATIONS (56)