Gene
mybpc1
- ID
- ZDB-GENE-041114-196
- Name
- myosin binding protein C1
- Symbol
- mybpc1 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 4 Mapping Details/Browsers
- Description
- Acts upstream of or within skeletal muscle fiber development. Predicted to be active in M band. Is expressed in heart tube; slow muscle cell; and trunk. Used to study distal arthrogryposis. Human ortholog(s) of this gene implicated in congenital myopathy 16; distal arthrogryposis type 1B; and lethal congenital contracture syndrome 4. Orthologous to human MYBPC1 (myosin binding protein C1).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 8 figures from 6 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
| Allele | Type | Localization | Consequence | Mutagen | Supplier |
|---|---|---|---|---|---|
| la024461Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| la024462Tg | Transgenic insertion | Unknown | Unknown | DNA | |
| sa153 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa8977 | Allele with one point mutation | Unknown | Premature Stop | ENU | |
| sa20253 | Allele with one point mutation | Unknown | Splice Site | ENU |
1 - 5 of 5
Show
1 - 8 of 8
Show
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital myopathy 16 | Alliance | Congenital myopathy 16 | 618524 |
| distal arthrogryposis type 1B | Alliance | Arthrogryposis, distal, type 1B | 614335 |
| lethal congenital contracture syndrome 4 | Alliance | Lethal congenital contracture syndrome 4 | 614915 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| distal arthrogryposis | WT + MO1-mybpc1 | standard conditions | Ha et al., 2013 |
| distal arthrogryposis | WT + MO2-mybpc1 | standard conditions | Ha et al., 2013 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003598 | Immunoglobulin subtype 2 |
| Domain | IPR003599 | Immunoglobulin domain subtype |
| Domain | IPR003961 | Fibronectin type III |
| Domain | IPR007110 | Immunoglobulin-like domain |
| Domain | IPR013098 | Immunoglobulin I-set |
| Domain | IPR040849 | MyBP-C, tri-helix bundle domain |
| Family | IPR050964 | Striated Muscle Structural and Regulatory Protein |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
| Homologous_superfamily | IPR036179 | Immunoglobulin-like domain superfamily |
Domain Details Per Protein
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
mybpc1-201
(1)
|
Ensembl | 3,504 nt | ||
| mRNA |
mybpc1-202
(1)
|
Ensembl | 4,088 nt | ||
| mRNA |
mybpc1-203
(1)
|
Ensembl | 314 nt | ||
| ncRNA |
mybpc1-003
(1)
|
Ensembl | 569 nt |
Interactions and Pathways
No data available
Plasmids
No data available
No data available
| Relationship | Marker Type | Marker | Accession Numbers | Citations |
|---|---|---|---|---|
| Contained in | BAC | CH211-234F20 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-11K24 | ZFIN Curated Data | |
| Contained in | BAC | DKEY-257I7 | ZFIN Curated Data | |
| Encodes | cDNA | MGC:92073 | ZFIN Curated Data |
1 - 4 of 4
Show
| Type | Accession # | Sequence | Length (nt/aa) | Analysis |
|---|---|---|---|---|
| RNA | RefSeq:NM_001007322 (1) | 4177 nt | ||
| Genomic | GenBank:BX890572 (1) | 166208 nt | ||
| Polypeptide | UniProtKB:A0A8M3AYR3 (1) | 1294 aa |
- Cahill, T., Chan, S., Overton, I.M., Hardiman, G. (2023) Transcriptome Profiling Reveals Enhanced Mitochondrial Activity as a Cold Adaptive Strategy to Hypothermia in Zebrafish Muscle. Cells. 12(10):
- Da'as, S.I., Hasan, W., Salem, R., Younes, N., Abdelrahman, D., Mohamed, I.A., Aldaalis, A., Temanni, R., Mathew, L.S., Lorenz, S., Yacoub, M., Nomikos, M., Nasrallah, G.K., Fakhro, K.A. (2022) Transcriptome Profile Identifies Actin as an Essential Regulator of Cardiac Myosin Binding Protein C3 Hypertrophic Cardiomyopathy in a Zebrafish Model. International Journal of Molecular Sciences. 23(16)
- Suresh, S., Rabbie, R., Garg, M., Lumaquin, D., Huang, T.H., Montal, E., Ma, Y., Cruz, N.M., Tang, X., Nsengimana, J., Newton-Bishop, J., Hunter, M.V., Zhu, Y., Chen, K., de Stanchina, E., Adams, D.J., White, R.M. (2022) Identifying the transcriptional drivers of metastasis embedded within localized melanoma. Cancer discovery. 13(1):194-215
- In Ka, H., Seo, H., Choi, Y., Kim, J., Cho, M., Choi, S.Y., Park, S., Han, S., An, J., Chung, H.S., Yang, Y., Kim, M.J. (2021) Loss of splicing factor IK impairs normal skeletal muscle development. BMC Biology. 19:44
- Ganassi, M., Badodi, S., Wanders, K., Zammit, P.S., Hughes, S.M. (2020) Myogenin is an essential regulator of adult myofibre growth and muscle stem cell homeostasis. eLIFE. 9:
- Li, M., Andersson-Lendahl, M., Sejersen, T., Arner, A. (2016) Knockdown of fast skeletal myosin-binding protein C in zebrafish results in a severe skeletal myopathy. The Journal of general physiology. 147:309-22
- Elkon, R., Milon, B., Morrison, L., Shah, M., Vijayakumar, S., Racherla, M., Leitch, C.C., Silipino, L., Hadi, S., Weiss-Gayet, M., Barras, E., Schmid, C.D., Ait-Lounis, A., Barnes, A., Song, Y., Eisenman, D.J., Eliyahu, E., Frolenkov, G.I., Strome, S.E., Durand, B., Zaghloul, N.A., Jones, S.M., Reith, W., Hertzano, R. (2015) RFX transcription factors are essential for hearing in mice. Nature communications. 6:8549
- van der Vaart, M., Korbee, C.J., Lamers, G.E., Tengeler, A.C., Hosseini, R., Haks, M.C., Ottenhoff, T.H., Spaink, H.P., Meijer, A.H. (2014) The DNA Damage-Regulated Autophagy Modulator DRAM1 Links Mycobacterial Recognition via TLR-MYD88 to Autophagic Defense. Cell Host & Microbe. 15(6):753-767
- Ha, K., Buchan, J.G., Alvarado, D.M., McCall, K., Vydyanath, A., Luther, P.K., Goldsmith, M.I., Dobbs, M.B., and Gurnett, C.A. (2013) MYBPC1 mutations impair skeletal muscle function in zebrafish models of arthrogryposis. Human molecular genetics. 22(24):4967-77
- Varshney, G.K., Lu, J., Gildea, D., Huang, H., Pei, W., Yang, Z., Huang, S.C., Schoenfeld, D.S., Pho, N., Casero, D., Hirase, T., Mosbrook-Davis, D.M., Zhang, S., Jao, L.E., Zhang, B., Woods, I.G., Zimmerman, S., Schier, A.F., Wolfsberg, T., Pellegrini, M., Burgess, S.M., and Lin, S. (2013) A large-scale zebrafish gene knockout resource for the genome-wide study of gene function. Genome research. 23(4):727-735
1 - 10 of 16
Show