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General Information
- Evidence
- Gene
- mRNA
- CDS
- Protein
- PTM
- Enzyme
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- Pathway
- Structural
- Domain
- Ontology
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Evidence Information
| Pubmed ID | Year | Sample Information | Techniques | Mechanism | Fold Change | Remark |
|---|---|---|---|---|---|---|
| 9242220 | 1997 | Cell line : - Source : Imperial Cancer Research Fund Colorectal Cancer Unit at St Mark's Hospital. Sample Type : CRC tumor and normal tissue No. of Sample : 70 Stage : - | Genotyping, PCR | Allele loss | - | Mutations at the putative Cowden Disease/JP1 locus may therefore be important in sporadic colorectal cancer and fine mapping of allele loss on l0q in sporadic colon cancers. Frequencies of allele loss of about 35% were found close to this locus, whereas low frequencies of allele loss were found elsewhere on 10q. |
| 22968445 | 2012 | Cell line : - Source : Department of Pathology of Wrocaw Medical University. Sample Type : CRC tumor and normal tissue No. of Sample : 8 Stage : - | Laser capture microdissection,FF E-FASP,SAX fractionation,LC MSMS,Label-free quantitation. | Up-regulation | - | - |
Gene Details
| Gene Type | protein coding |
|---|---|
| Gene Family | - |
| Description | Junctional complexes between the plasma membrane and endoplasmic/sarcoplasmic reticulum are a common feature of all excitable cell types and mediate cross talk between cell surface and intracellular ion channels. The protein encoded by this gene is a component of junctional complexes and is composed of a C-terminal hydrophobic segment spanning the endoplasmic/sarcoplasmic reticulum membrane and a remaining cytoplasmic domain that shows specific affinity for the plasma membrane. This gene is a member of the junctophilin gene family. [provided by RefSeq, Jul 2008] |
| Chromosome | 8 |
| Location | 8q21 |
| Start | 74234700 |
| End | 74321500 |
| Strand | - |
| Gene Sequence | Download Select all |
| Length | 86801 |
| OMIM ID | 605266 |
| HGNC ID | HGNC:14201 |
| Unigene ID | Hs.657367 |
| Ensembl ID | ENSG00000104369 |
| PharmGKB ID | - |
mRNA Information
| mRNA ID | XM_005251274.2 |
|---|---|
| Exon | join(1..592,5881..6640,61998..62116,76326..76972, 84198..84293,84892..86801) | mRNA Sequence | Download Select all |
| Length | 4124 |
CDS Information
| Location | join(214..592,5881..6640,61998..62116,76326..76972, 84198..84278) |
|---|---|
| CDS Sequence | Download Select all |
| CCDS ID | CCDS6217.1 |
Protein Information
| Protein ID | NP_065698.1 |
|---|---|
| Protein Name | Junctophilin 1 |
| Molecular Wt. (Da) | 71555 |
| Protein Sequence | Download Select all |
| Length | 661 |
| Uniprot ID | P22455 |
| Ensembl Protein ID | ENSP00000292408 |
Post-translational Modification Information (Source : HPRD)
| Residue | Type | site |
|---|---|---|
| S | Phosphorylation | 473;- |
| S | Phosphorylation | 479;- |
| S | Phosphorylation | 573;- |
| S | Phosphorylation | 577;- |
| S | Phosphorylation | 585;- |
| S | Phosphorylation | 592;- |
| T | Phosphorylation | 448;- |
| S | Phosphorylation | 452;- |
| S | Phosphorylation | 157 |
| S | Phosphorylation | 216 |
| S | Phosphorylation | 220 |
| T | Phosphorylation | 460 |
| S | Phosphorylation | 465 |
| S | Phosphorylation | 469 |
| T | Phosphorylation | 461 |
| S | Phosphorylation | 625 |
| S | Phosphorylation | 475 |
| S | Phosphorylation | 162 |
| S | Phosphorylation | 478 |
Enzyme Information
No matching records could be found.
PPi Information
(Click to view network : Source STRING) View
No matching records from HPRD source could be found.
Pathway Information
No matching records could be found.
Structure Information
No matching records could be found.
Domain Information
| ID | Location | Description |
|---|---|---|
| pfam02493 | 304-326 | MORN |
| cl23524 | 304-326 | MORN superfamily |
| pfam02493 | 106-128 | MORN |
| cl23524 | 106-128 | MORN superfamily |
| smart00698 | 303-323 | MORN |
| cl23356 | 303-323 | MORN superfamily |
| PLN03185 | 4-143 | PLN03185 |
| PLN03185 | 38-150 | PLN03185 |
| PLN03185 | 106-325 | PLN03185 |
| PLN03185 | 280-332 | PLN03185 |
| COG0810 | 434-528 | TonB |
| PHA03247 | 405-571 | PHA03247 |
| PLN03185 | 280-335 | PLN03185 |
| PLN03185 | 279-331 | PLN03185 |
| COG4642 | 38-146 | COG4642 |
| PLN03185 | 55-142 | PLN03185 |
| PRK10819 | 435-493 | PRK10819 |
| pfam05110 | 441-639 | AF-4 |
| PHA03247 | 407-637 | PHA03247 |
| PLN03185 | Jan-57 | PLN03185 |
| COG4642 | Mar-89 | COG4642 |
Ontology Information
| HPRD ID | 4026 |
|---|---|
| Molecular Class | Cell junction protein |
| Molecular Function | Protein binding (GO:0005515) |
| Biological Process | Regulation of nucleobase, nucleoside, nucleotide and nucleic acid metabolism (GO:0019219) |
Drug Information
No matching records could be found.