Gene

smyhc1

ID
ZDB-GENE-030131-271
Name
slow myosin heavy chain 1
Symbol
smyhc1 Nomenclature History
Previous Names
  • smhc1 (1)
  • fb18g10
  • im:6897999
  • wu:fb18g10
Type
protein_coding_gene
Location
Chr: 24 Mapping Details/Browsers
Description
Predicted to enable actin filament binding activity and microfilament motor activity. Acts upstream of or within muscle cell development; notochord development; and slow-twitch skeletal muscle fiber contraction. Predicted to be part of myosin II complex. Predicted to be active in cytoplasm and myosin filament. Is expressed in cardiovascular system; musculature system; paraxial mesoderm; and somite. Used to study distal arthrogryposis and spondylocarpotarsal synostosis syndrome. Human ortholog(s) of this gene implicated in atrial heart septal defect (multiple); heart conduction disease (multiple); and intrinsic cardiomyopathy (multiple). Orthologous to human MYH6 (myosin heavy chain 6).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
110 figures from 52 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
27 figures from 6 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
kg179Allele with one delinsUnknownUnknownCRISPR
kg180Allele with one deletionUnknownUnknownCRISPR
mb16Allele with one deletionUnknownUnknownCRISPR
mb17Allele with one insertionUnknownUnknownCRISPR
mb18Allele with one delinsUnknownUnknownCRISPR
sa12384Allele with one point mutationUnknownPremature StopENU
sa24569Allele with one point mutationUnknownPremature StopENU
sa30154Allele with one point mutationUnknownPremature StopENU
sa30155Allele with one point mutationUnknownSplice SiteENU
sa30156Allele with one point mutationUnknownPremature StopENU
1 - 10 of 15
Show
Sequence Targeting Reagents
Human Disease
Associated With smyhc1 Human Ortholog
No data available
Associated With smyhc1 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR002928 Myosin tail
Domain IPR004009 Myosin, N-terminal, SH3-like
Homologous_superfamily IPR008989 Myosin S1 fragment, N-terminal
Homologous_superfamily IPR014751 DNA repair protein XRCC4-like, C-terminal
Homologous_superfamily IPR027417 P-loop containing nucleoside triphosphate hydrolase
1 - 5 of 6 Show all
Domain Details Per Protein
Protein Length DNA repair protein XRCC4-like, C-terminal Kinesin motor domain superfamily Myosin, N-terminal, SH3-like Myosin S1 fragment, N-terminal Myosin tail P-loop containing nucleoside triphosphate hydrolase
UniProtKB:Q508P8 1938
UniProtKB:A0A0R4INI3 1938
1 - 2 of 2
Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 24
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA smyhc1-201 (1) Ensembl 6,575 nt
mRNA smyhc1-202 (1) Ensembl 6,147 nt
ncRNA cu633479.5-201 (1) Ensembl 762 nt
1 - 3 of 3
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-24N20ZFIN Curated Data
EncodesESTfb18g10
EncodesESTIMAGE:6897999Thisse et al., 2004
EncodescDNAMGC:194801ZFIN Curated Data
1 - 4 of 4
Show
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
No data available
Citations
1 - 10 of 103
Show