Gene

jph1a

ID
ZDB-GENE-040724-233
Name
junctophilin 1a
Symbol
jph1a Nomenclature History
Previous Names
  • jph1 (1)
  • si:rp71-1m12.3
Type
protein_coding_gene
Location
Chr: 24 Mapping Details/Browsers
Description
Predicted to localize to several cellular components, including endoplasmic reticulum membrane; junctional membrane complex; and sarcoplasmic reticulum. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2K. Orthologous to human JPH1 (junctophilin 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
No data available
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With jph1a Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Charcot-Marie-Tooth disease axonal type 2K Alliance ?Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2K 607831
Associated With jph1a Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR017191 Junctophilin
Repeat IPR003409 MORN motif
Domain Details Per Protein
Protein Length Junctophilin MORN motif
UniProtKB:Q7T140 380
UniProtKB:F1R2C3 683
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