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
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
| Protein | Length | Fibronectin type III | Fibronectin type III superfamily | Immunoglobulin domain subtype | Immunoglobulin I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype 2 | MyBP-C, tri-helix bundle domain | Striated Muscle Structural and Regulatory Protein |
|---|---|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M3ARD8
|
1185 | ||||||||||
|
UniProtKB:A0A8M3AYR3
|
1294 | ||||||||||
|
UniProtKB:A0A8M9PH70
|
1291 | ||||||||||
|
UniProtKB:A0A8M9PH75
|
1202 | ||||||||||
|
UniProtKB:A0A8M3ARM2
|
1162 | ||||||||||
|
UniProtKB:A0A8M6YZH4
|
1263 | ||||||||||
|
UniProtKB:A0A8M2BC30
|
1140 | ||||||||||
|
UniProtKB:A0A8M9Q0F0
|
1288 | ||||||||||
|
UniProtKB:Q5U3B1
|
1168 | ||||||||||
|
UniProtKB:A0A8M9QB63
|
1272 | ||||||||||
|
UniProtKB:A0A8M6Z5B5
|
1291 | ||||||||||
|
UniProtKB:A0A8M9PUD7
|
1288 | ||||||||||
|
UniProtKB:A0A8M3B8Y2
|
1185 | ||||||||||
|
UniProtKB:A0A8M6YXZ0
|
1277 | ||||||||||
|
UniProtKB:A0A8M9Q5V6
|
1269 |
| 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