InnateDB Protein
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IDBP-163216.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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Jph4
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Protein Name
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junctophilin 4
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Synonyms
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Species
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Mus musculus
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Ensembl Protein
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ENSMUSP00000022819
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InnateDB Gene
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IDBG-163214 (Jph4)
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Protein Structure
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Function |
Junctophilins contribute to the formation of junctional membrane complexes (JMCs) which link the plasma membrane with the endoplasmic or sarcoplasmic reticulum in excitable cells. Provides a structural foundation for functional cross-talk between the cell surface and intracellular calcium release channels. JPH4 is brain- specific and appears to have an active role in certain neurons involved in motor coordination and memory. {ECO:0000269PubMed:16809425}.
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Subcellular Localization |
Cell membrane {ECO:0000250}; Peripheral membrane protein {ECO:0000250}. Endoplasmic reticulum membrane {ECO:0000269PubMed:16809425}; Single-pass type IV membrane protein {ECO:0000269PubMed:16809425}. Note=Localized predominantly on the plasma membrane. The transmembrane domain is anchored in endoplasmic reticulum membrane, while the N-terminal part associates with the plasma membrane (By similarity). {ECO:0000250}.
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Disease Associations |
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Tissue Specificity |
Specifically expressed in brain. Highest levels in the olfactory tubercle, caudate putamen, nucleus accumbens, hippocampal formation, piriform cortex and cerebellar cortex. Expressed in disctete neurons sites. In hippocampal formation, expressed in dendrites of hippocampal pyramidal and denate granule cells. In cerebellum, it is highly expressed in Purkinje cells, while it is weakly expressed in granular cells. {ECO:0000269PubMed:14559359, ECO:0000269PubMed:16809425}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
MGI:2443113
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InterPro |
IPR003409
MORN motif
IPR017191
Junctophilin
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PFAM |
PF02493
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PRINTS |
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PIRSF |
PIRSF037387
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SMART |
SM00698
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TIGRFAMs |
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Modification |
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SwissProt |
Q80WT0
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PhosphoSite |
PhosphoSite-Q80WT0
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
319984
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UniGene |
Mm.486015
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RefSeq |
NP_796023
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MGI ID |
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MGI Symbol |
Jph4
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OMIM |
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CCDS |
CCDS27109
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HPRD |
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IMGT |
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EMBL |
AB099712
AK031092
AK148135
AY341261
BC052049
BC052376
BC052722
CH466535
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GenPept |
AAH52049
AAH52376
AAH52722
AAR08903
BAC27249
BAD01498
BAE28365
EDL36304
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