Property Summary

NCBI Gene PubMed Count 15
PubMed Score 52.95
PubTator Score 5.58

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (18)

Disease log2 FC p
interstitial lung disease -1.200 2.9e-02
urothelial carcinoma -2.100 3.0e-04
astrocytic glioma -2.600 1.0e-03
posterior fossa group A ependymoma -3.300 1.3e-14
oligodendroglioma -2.600 3.1e-03
glioblastoma -2.700 4.4e-04
medulloblastoma -3.400 3.1e-08
atypical teratoid / rhabdoid tumor -3.500 4.5e-08
medulloblastoma, large-cell -2.000 7.4e-04
primitive neuroectodermal tumor -2.800 1.6e-06
active Crohn's disease 1.670 7.1e-03
active ulcerative colitis 1.409 8.0e-03
interstitial cystitis -1.700 1.3e-04
lung adenocarcinoma -1.100 1.2e-08
adult high grade glioma -2.700 9.6e-05
pilocytic astrocytoma -1.900 1.1e-04
subependymal giant cell astrocytoma -2.040 3.3e-02
invasive ductal carcinoma 1.300 4.4e-02

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.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16421571 2006 DNA sequence and analysis of human chromosome 8.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
12777839 2003 Ryanodine receptor and junctional membrane structure.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12135771 2002 Deficiency of triad formation in developing skeletal muscle cells lacking junctophilin type 1.
10949023 2000 Junctophilins: a novel family of junctional membrane complex proteins.
10891348 2000 Characterization of human junctophilin subtype genes.