junctophilin 1, isoform CRA_f [Homo sapiens]

Run BLAST
Find regions of similarity between this sequence and other sequences using BLAST.
Identify Conserved Domains
View conserved domains detected in this protein sequence using CD-search.
Show in Genome Data Viewer
Opens the Genome Data Viewer, NCBI's genome browser, at the genomic location at which this sequence is annotated. View this sequence in the context of other features annotated at the same location and browse to other genome regions.

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement. [J Med Genet. 2024]
Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.
Johari M, Topf A, Folland C, Duff J, Dofash L, Marti P, Robertson T, Vilchez J, Cairns A, Harris E, et al. J Med Genet. 2024 Sep 24; 61(10):992-998. Epub 2024 Sep 24.
Muscle calcium stress cleaves junctophilin1, unleashing a gene regulatory program predicted to correct glucose dysregulation. [Elife. 2023]
Muscle calcium stress cleaves junctophilin1, unleashing a gene regulatory program predicted to correct glucose dysregulation.
Tammineni ER, Figueroa L, Manno C, Varma D, Kraeva N, Ibarra CA, Klip A, Riazi S, Rios E. Elife. 2023 Feb 1; 12. Epub 2023 Feb 1.
[Ryanodine receptor and junctional membrane structure]. [Nihon Yakurigaku Zasshi. 2003]
[Ryanodine receptor and junctional membrane structure].
Takeshima H. Nihon Yakurigaku Zasshi. 2003 Apr; 121(4):203-10.

RefSeq genomic sequence
See the genomic reference sequence for the JPH1 gene (NG_046331.1).
RefSeq protein isoforms
See 6 reference sequence protein isoforms for the JPH1 gene.

BioProject
Proteins related to BioProjects
Nucleotide
Nucleotide sequence from coding region
PubMed
PubMed articles cited by protein sequence record
Taxonomy
Taxonomy sequences associated with protein record
BioSystems
BioSystems
CDD Search Results
Display conserved domains within a protein
Conserved Domains (Concise)
Link to a concise list of conserved domains in a protein
Conserved Domains (Full)
Link to conserved domains within a protein
Domain Relatives
Display proteins with similar conserved domain architecture
Gene
Link to related Genes
Genome
Genome record encoding protein sequence
OMIM
OMIM records associated with protein sequence
PubMed (Weighted)
Links to pubmed

Your browsing activity is empty.

Activity recording is turned off.

Protein