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
-
- All Expression Data
- 110 figures from 52 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:6897999 (37 images)
Wild Type Expression Summary
- All Phenotype Data
- 27 figures from 6 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Allele | Type | Localization | Consequence | Mutagen | Supplier |
---|---|---|---|---|---|
kg179 | Allele with one delins | Unknown | Unknown | CRISPR | |
kg180 | Allele with one deletion | Unknown | Unknown | CRISPR | |
mb16 | Allele with one deletion | Unknown | Unknown | CRISPR | |
mb17 | Allele with one insertion | Unknown | Unknown | CRISPR | |
mb18 | Allele with one delins | Unknown | Unknown | CRISPR | |
sa12384 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa24569 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa30154 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
sa30155 | Allele with one point mutation | Unknown | Splice Site | ENU | |
sa30156 | Allele with one point mutation | Unknown | Premature Stop | ENU |
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Human Disease
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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 |
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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 |
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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 |
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Interactions and Pathways
No data available
Plasmids
Relationship | Marker Type | Marker | Accession Numbers | Citations |
---|---|---|---|---|
Contained in | BAC | CH211-24N20 | ZFIN Curated Data | |
Encodes | EST | fb18g10 | ||
Encodes | EST | IMAGE:6897999 | Thisse et al., 2004 | |
Encodes | cDNA | MGC:194801 | ZFIN Curated Data |
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Type | Accession # | Sequence | Length (nt/aa) | Analysis |
---|---|---|---|---|
RNA | RefSeq:NM_001020507 (1) | 5905 nt | ||
Genomic | GenBank:CU929259 (1) | 140786 nt | ||
Polypeptide | UniProtKB:A0A0R4INI3 (1) | 1938 aa |
No data available
- Nemoz-Billet, L., Balland, M., Gilquin, L., Gillet, B., Stévant, I., Guillon, E., Hughes, S., Carpentier, G., Vaganay, E., Sohm, F., Misiak, V., Gonzalez-Melo, M.J., Koch, M., Ghavi-Helm, Y., Bretaud, S., Ruggiero, F. (2024) Dual topologies of myotomal collagen XV and Tenascin C act in concert to guide and shape developing motor axons. Proceedings of the National Academy of Sciences of the United States of America. 121:e2314588121e2314588121
- Hau, H.A., Kelu, J.J., Ochala, J., Hughes, S.M. (2023) Slow myosin heavy chain 1 is required for slow myofibril and muscle fibre growth but not for myofibril initiation. Developmental Biology. 499:47-58
- Luckner, B., Essfeld, F., Ayobahan, S.U., Richling, E., Eilebrecht, E., Eilebrecht, S. (2023) Transcriptomic profiling of TLR-7-mediated immune-challenge in zebrafish embryos in the presence and absence of glucocorticoid-induced immunosuppression. Ecotoxicology and environmental safety. 266:115570115570
- Wesselman, H.M., Flores-Mireles, A.L., Bauer, A., Pei, L., Wingert, R.A. (2023) Esrrγa regulates nephron and ciliary development by controlling prostaglandin synthesis. Development (Cambridge, England). 150(10):
- Wesselman, H.M., Gatz, A.E., Pfaff, M.R., Arceri, L., Wingert, R.A. (2023) Estrogen Signaling Influences Nephron Segmentation of the Zebrafish Embryonic Kidney. Cells. 12(4):
- Lukowicz-Bedford, R.M., Farnsworth, D.R., Miller, A.C. (2022) Connexinplexity: The spatial and temporal expression of connexin genes during vertebrate organogenesis. G3 (Bethesda). 12(5):
- Zhou, C., Zhao, W., Zhang, S., Ma, J., Sultan, Y., Li, X. (2022) High-throughput transcriptome sequencing reveals the key stages of cardiovascular development in zebrafish embryos. BMC Genomics. 23:587
- Ghilardi, A., Diana, A., Bacchetta, R., Santo, N., Ascagni, M., Prosperi, L., Del Giacco, L. (2021) Inner Ear and Muscle Developmental Defects in Smpx-Deficient Zebrafish Embryos. International Journal of Molecular Sciences. 22(12):
- Hall, T.E., Martel, N., Ariotti, N., Xiong, Z., Lo, H.P., Ferguson, C., Rae, J., Lim, Y.W., Parton, R.G. (2020) In vivo cell biological screening identifies an endocytic capture mechanism for T-tubule formation. Nature communications. 11:3711
- Hromowyk, K.J., Talbot, J.C., Martin, B.L., Janssen, P.M.L., Amacher, S.L. (2020) Cell fusion is differentially regulated in zebrafish post-embryonic slow and fast muscle. Developmental Biology. 462(1):85-100
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