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
- Involved in skeletal muscle fiber development. Used to study distal arthrogryposis. Human ortholog(s) of this gene implicated in distal arthrogryposis type 1B and lethal congenital contracture syndrome 4. Is expressed in heart tube; slow muscle cell; and trunk. 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 subtype |
Domain | IPR003961 | Fibronectin type III |
Domain | IPR007110 | Immunoglobulin-like domain |
Domain | IPR013098 | Immunoglobulin I-set |
Domain | IPR040849 | MyBP-C, tri-helix bundle domain |
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 I-set | Immunoglobulin-like domain | Immunoglobulin-like domain superfamily | Immunoglobulin-like fold | Immunoglobulin subtype | Immunoglobulin subtype 2 | MyBP-C, tri-helix bundle domain |
---|---|---|---|---|---|---|---|---|---|---|
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 | Length (nt) | Analysis |
---|---|---|---|---|
mRNA |
mybpc1-201
(1)
|
Ensembl | 3504 nt | |
mRNA |
mybpc1-202
(1)
|
Havana | 4088 nt | |
mRNA |
mybpc1-203
(1)
|
Havana | 314 nt | |
ncRNA |
mybpc1-003
(1)
|
Havana | 569 nt |
Interactions and Pathways
No data available
Plasmids
No data available