ZFIN ID: ZDB-GENE-040724-233
Gene Name: junctophilin 1a
Gene Symbol: jph1a    Nomenclature History

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Previous Names: jph1 (1), si:rp71-1m12.3

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 24 Mapping Details/Browsers
Description: Predicted to have calcium-release channel activity. Predicted to localize to several cellular components, including the endoplasmic reticulum; endoplasmic reticulum membrane; and junctional membrane complex. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2K. Orthologous to human JPH1 (junctophilin 1).
Genome Resources: Alliance (1),  Ensembl(GRCz11):ENSDARG00000058603 (2)
GENE EXPRESSION No data available
PHENOTYPE No data available
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
DISEASE ASSOCIATED WITH jph1a VIA EXPERIMENTAL MODELS No data available
GENE ONTOLOGY
Ontology GO Term
Cellular Component endoplasmic reticulum (more)
GO Terms (all 6)
PROTEIN FAMILIES, DOMAINS AND SITES
Type InterPro ID Name
Family IPR017191 Junctophilin
Repeat IPR003409 MORN motif
TRANSCRIPTS
Type Name Length (nt) Analysis
mRNA jph1a-201 (1)    Ensembl 1147
Browsers: EnsemblZFIN
INTERACTIONS AND PATHWAYS
ANTIBODIES No data available
PLASMIDS No data available
CONSTRUCTS WITH SEQUENCES FROM jph1a No data available
MARKER RELATIONSHIPS
jph1a Contained in: [BAC] RP71-1M12
SEQUENCE INFORMATION
Type Accession # Length (nt/aa) Analysis
Genomic GenBank:AL627168 (1) 180922 nt
Select Tool
Polypeptide UniProtKB:F1R2C3 (1) 683 aa
Sequence Information (all 4)
ORTHOLOGY for jph1a ( Chr: 24 )
CITATIONS (20)