JPH1 |
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Identifiers |
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Aliases | JPH1, JP-1, JP1, CMT2K, junctophilin 1 |
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External IDs | OMIM: 605266; MGI: 1891495; HomoloGene: 10761; GeneCards: JPH1; OMA:JPH1 - orthologs |
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Gene location (Human) |
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![Chromosome 8 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/6/60/Ideogram_human_chromosome_8.svg/300px-Ideogram_human_chromosome_8.svg.png) | Chr. | Chromosome 8 (human)[1] |
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| Band | 8q21.11 | Start | 74,234,700 bp[1] |
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End | 74,321,540 bp[1] |
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Gene location (Mouse) |
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![Chromosome 1 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/f/fb/Ideogram_house_mouse_chromosome_1.svg/260px-Ideogram_house_mouse_chromosome_1.svg.png) | Chr. | Chromosome 1 (mouse)[2] |
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| Band | 1|1 A3 | Start | 17,034,784 bp[2] |
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End | 17,168,113 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - quadriceps femoris muscle
- vastus lateralis muscle
- tibialis anterior muscle
- Skeletal muscle tissue of biceps brachii
- deltoid muscle
- Skeletal muscle tissue of rectus abdominis
- gastrocnemius muscle
- muscle of thigh
- body of tongue
- endothelial cell
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| Top expressed in | - triceps brachii muscle
- sternocleidomastoid muscle
- temporal muscle
- digastric muscle
- ankle
- muscle of thigh
- intercostal muscle
- soleus muscle
- skeletal muscle tissue
- medial head of gastrocnemius muscle
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| More reference expression data |
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BioGPS | ![](//upload.wikimedia.org/wikipedia/commons/thumb/b/b2/PBB_GE_JPH1_gnf1h05714_at_fs.png/250px-PBB_GE_JPH1_gnf1h05714_at_fs.png) | More reference expression data |
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Gene ontology |
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Molecular function | - structural constituent of muscle
- molecular function
- calcium-release channel activity
| Cellular component | - sarcoplasmic reticulum membrane
- endoplasmic reticulum membrane
- plasma membrane
- membrane
- sarcoplasmic reticulum
- junctional sarcoplasmic reticulum membrane
- integral component of membrane
- junctional membrane complex
- endoplasmic reticulum
- Z discdkac
- nucleus
- nucleoplasm
| Biological process | - regulation of ryanodine-sensitive calcium-release channel activity
- muscle organ development
- calcium ion transport into cytosol
- release of sequestered calcium ion into cytosol
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_020647 NM_001317830 NM_001363050 NM_001363051 |
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RefSeq (protein) | |
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NP_001304759 NP_065698 NP_001349979 NP_001349980 NP_065698.1 |
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Location (UCSC) | Chr 8: 74.23 – 74.32 Mb | Chr 1: 17.03 – 17.17 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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