Property Summary

NCBI Gene PubMed Count 15
PubMed Score 52.95
PubTator Score 5.58

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
posterior fossa group A ependymoma 1511 1.34478849439914E-14
lung adenocarcinoma 2714 1.16663550508416E-8
medulloblastoma 1524 3.07343239266174E-8
atypical teratoid / rhabdoid tumor 4369 4.52571224565131E-8
primitive neuroectodermal tumor 3031 1.63919065311573E-6
adult high grade glioma 2148 9.56371956279033E-5
pilocytic astrocytoma 3086 1.09843573684198E-4
interstitial cystitis 2299 1.33979317041471E-4
urothelial carcinoma 318 2.99410632082574E-4
glioblastoma 5572 4.35230374287008E-4
medulloblastoma, large-cell 6234 7.41253656586677E-4
astrocytic glioma 2241 0.00101279170370432
oligodendroglioma 2849 0.00310658481666723
active Crohn's disease 918 0.00707089534008242
active ulcerative colitis 477 0.0080194243324217
interstitial lung disease 292 0.0286464817304949
subependymal giant cell astrocytoma 2287 0.0327126592013851
invasive ductal carcinoma 2950 0.0436303466532143
Disease Target Count Z-score Confidence
Carcinoma 2147 0.0 1.0

Expression

Synonym

Accession Q9HDC5 B2RTZ0 JP-1
Symbols JP1
JP-1
CMT2K

Gene

  Ortholog (9)

Species Source
Chimp OMA EggNOG
Mouse OMA Inparanoid
Rat OMA Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Pig OMA EggNOG
Opossum OMA EggNOG Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA Inparanoid

Pathway (1)

Gene RIF (5)

PMID Text
25168384 Results show that JPH1 and GDAP1 share a common pathway and depend on each other; therefore, JPH1 can contribute to the phenotypical consequences of GDAP1 mutations.
24954085 This study suggests that genetic variants of JPH1 may modulate the effect of smoking on carotid plaque burden.
23148318 This study demonstrates that both JP1 and JP2 in skeletal muscle undergo Ca2+-dependent proteolysis by endogenous proteases when the intracellular Ca2+ is raised within the physiological range for a sustained period
22020936 JP1 and JP2 can facilitate the assembly of DHPR with other proteins of the excitation-contraction coupling machinery
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

AA Sequence

MTGGRFDFDDGGTYCGGWEEGKAHGHGICTGPKGQGEYSGSWSHGFEVVGGYTWPSGNTYQGYWAQGKRH      1 - 70
GLGVETKGKWMYRGEWSHGFKGRYGVRQSLCTPARYEGTWSNGLQDGYGVETYGDGGTYQGQWAGGMRHG     71 - 140
YGVRQSVPYGMATVIRSPLRTSLASLRSEQSNGSVLHDAAAAADSPAGTRGGFVLNFHADAELAGKKKGG    141 - 210
LFRRGSLLGSMKLRKSESKSSISSKRSSVRSDAAMSRISSSDANSTISFGDVDCDFCPVEDHVDATTTET    211 - 280
YMGEWKNDKRNGFGVSERSNGMKYEGEWANNKRHGYGCTVFPDGSKEEGKYKNNILVRGIRKQLIPIRHT    281 - 350
KTREKVDRAIEGAQRAAAMARTKVEIANSRTAHARAKADAADQAALAARQECDIARAVARELSPDFYQPG    351 - 420
PDYVKQRFQEGVDAKENPEEKVPEKPPTPKESPHFYRKGTTPPRSPEASPKHSHSPASSPKPLKKQNPSS    421 - 490
GARLNQDKRSVADEQVTAIVNKPLMSKAPTKEAGAVVPQSKYSGRHHIPNPSNGELHSQYHGYYVKLNAP    491 - 560
QHPPVDVEDGDGSSQSSSALVHKPSANKWSPSKSVTKPVAKESKAEPKAKKSELAIPKNPASNDSCPALE    561 - 630
KEANSGPNSIMIVLVMLLNIGLAILFVHFLT                                           631 - 661
//

Text Mined References (20)

PMID Year Title
25168384 2015 Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.
24954085 2014 Novel genetic variants modify the effect of smoking on carotid plaque burden in Hispanics.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23148318 2013 Ca2+-dependent proteolysis of junctophilin-1 and junctophilin-2 in skeletal and cardiac muscle.
22020936 2011 Junctophilin 1 and 2 proteins interact with the L-type Ca2+ channel dihydropyridine receptors (DHPRs) in skeletal muscle.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
21269460 2011 Initial characterization of the human central proteome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19095005 2009 New molecular components supporting ryanodine receptor-mediated Ca(2+) release: roles of junctophilin and TRIC channel in embryonic cardiomyocytes.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
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