Gene

mybpc1

ID
ZDB-GENE-041114-196
Name
myosin binding protein C1
Symbol
mybpc1 Nomenclature History
Previous Names
  • smbpc (1)
  • zgc:92073 (1)
Type
protein_coding_gene
Location
Chr: 4 Mapping Details/Browsers
Description
Involved in skeletal muscle fiber development. Is expressed in heart tube; slow muscle cell; and trunk. Used to study distal arthrogryposis. Human ortholog(s) of this gene implicated in distal arthrogryposis type 1B and lethal congenital contracture syndrome 4. Orthologous to human MYBPC1 (myosin binding protein C1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
7 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mybpc1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
distal arthrogryposis Alliance Arthrogryposis, distal, type 1B 614335
distal arthrogryposis type 1B Alliance Arthrogryposis, distal, type 1B 614335
Lethal congenital contracture syndrome 4 614915
Myopathy, congenital, with tremor 618524
Associated With mybpc1 Via Experimental Models
Gene Ontology
Protein Domains
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:F1R530 105
UniProtKB:Q5U3B1 1168
UniProtKB:F1Q545 1167
UniProtKB:A5WWB7 1147
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations