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. 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
Expression
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
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
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
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: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
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