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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

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

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

Gene Ontology

Protein Domains

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 InterPro	1185
UniProtKB:A0A8M3AYR3 InterPro	1294
UniProtKB:A0A8M9PH70 InterPro	1291
UniProtKB:A0A8M9PH75 InterPro	1202
UniProtKB:A0A8M3ARM2 InterPro	1162
UniProtKB:A0A8M6YZH4 InterPro	1263
UniProtKB:A0A8M2BC30 InterPro	1140
UniProtKB:A0A8M9Q0F0 InterPro	1288
UniProtKB:Q5U3B1 InterPro	1168
UniProtKB:A0A8M9QB63 InterPro	1272
UniProtKB:A0A8M6Z5B5 InterPro	1291
UniProtKB:A0A8M9PUD7 InterPro	1288
UniProtKB:A0A8M3B8Y2 InterPro	1185
UniProtKB:A0A8M6YXZ0 InterPro	1277
UniProtKB:A0A8M9Q5V6 InterPro	1269

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	mybpc1-201 (1) Ensembl	Ensembl	3,504 nt	Select Tool ZFIN BLAST
mRNA	mybpc1-202 (1) Ensembl	Ensembl	4,088 nt	Select Tool
mRNA	mybpc1-203 (1) Ensembl	Ensembl	314 nt	Select Tool
ncRNA	mybpc1-003 (1) Ensembl	Ensembl	569 nt	Select Tool

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