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 have ATP binding activity; actin filament binding activity; and motor activity. Involved in skeletal muscle thin filament assembly; slow-twitch skeletal muscle fiber contraction; and striated muscle myosin thick filament assembly. Predicted to localize to myosin complex. Human ortholog(s) of this gene implicated in atrial heart septal defect (multiple); heart conduction disease (multiple); and intrinsic cardiomyopathy (multiple). Is expressed in cardiovascular system; musculature system; paraxial mesoderm; and somite. Orthologous to human MYH6 (myosin heavy chain 6).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

108 figures from 50 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:6897999 (37 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 22 figures from 5 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With smyhc1 Human Ortholog

No data available

Associated With smyhc1 Via Experimental Models

Human Disease	Fish	Conditions	Citations
spondylocarpotarsal synostosis syndrome	smyhc1^{stl582/stl582}	standard conditions	Whittle et al., 2020
distal arthrogryposis	smyhc1^{stl584/stl584}	standard conditions	Whittle et al., 2020
distal arthrogryposis	smyhc1^stl584/+	standard conditions	Whittle et al., 2020

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Binding_site	IPR000048	IQ motif, EF-hand binding site
Domain	IPR001609	Myosin head, motor domain
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
Homologous_superfamily	IPR036961	Kinesin motor domain superfamily

Domain Details Per Protein

Protein	Length	DNA repair protein XRCC4-like, C-terminal	IQ motif, EF-hand binding site	Kinesin motor domain superfamily	Myosin head, motor domain	Myosin, N-terminal, SH3-like	Myosin S1 fragment, N-terminal	Myosin tail	P-loop containing nucleoside triphosphate hydrolase
UniProtKB:Q508P8 InterPro	1938
UniProtKB:A0A0R4INI3 InterPro	1938

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	smyhc1-201 (1) Ensembl	Havana	6575 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	cu633479.5-201 (1) Ensembl	Havana	700 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations