Property Summary

NCBI Gene PubMed Count 106
Grant Count 69
R01 Count 14
Funding $7,011,976.89
PubMed Score 260.44
PubTator Score 209.59

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession Q6P1J9 A6NLZ8 B2RBR2 Q6PK51 Q96A07 Q9H245 Q9H5L7
Symbols HYX
FIHP
HPTJT
HRPT1
HRPT2
C1orf28

Gene

Gene RIF (81)

PMID Text
26232434 Parafibromin interacted with JAK1/2, promoted the interactions of JAK1-JAK2 and JAK1/2-STAT1, and promoted tyrosine phosphorylation of STAT1 by JAKs after IFN-gamma stimulation.
26124004 These findings suggest that downregulated expression of parafibromin protein plays an important role in the pathogenesis, differentiation, and metastasis of head and neck squamous cell carcinomas
25388829 targets and destabilizes p53 mRNA to control p53-mediated apoptosis
25113791 Data report a novel mutation in the CDC73 gene that may underlie HPT-JT syndrome.
24889687 gene expression profiling experiments suggest that upregulated FGFR1 expression appears to be associated with parathyroid carcinoma in HPT-JT syndrome due to an HRPT2 splicing mutation
24823466 A previously unreported intragenic deletion of exons 1 to 10 of CDC73 was detected in a three-generation family with familial primary hyperparathyroidism with parathyroid carcinoma.
24716902 3 unrelated Chinese families with familial isolated primary hyperparathyroidism and 1 with hyperparathyroidism-jaw tumour syndrome were described; genetic analysis revealed 4 germline mutations that were responsible for the 4 kindreds including 2 novel point mutations, 1 recurrent point mutation and 1 deletion mutation
24340015 Mutations within the nucleolar localisation signals of the CDC73 gene led to instability either of the corresponding mutated protein or mRNA or both.
24257751 Data indicate that overexpression of Wilms tumor 1 gene (WT1) decreased CDC73 levels and promoted proliferation of oral squamous cell carcinoma (OSCC) cells.
24121387 We present three siblings with familial isolated hyperparathyroidism due to solitary parathyroid adenoma and favorable evolution post-parathyroidectomy. Genetic tests revealed HRPT2 mutation.
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AA Sequence

MADVLSVLRQYNIQKKEIVVKGDEVIFGEFSWPKNVKTNYVVWGTGKEGQPREYYTLDSILFLLNNVHLS      1 - 70
HPVYVRRAATENIPVVRRPDRKDLLGYLNGEASTSASIDRSAPLEIGLQRSTQVKRAADEVLAEAKKPRI     71 - 140
EDEECVRLDKERLAARLEGHKEGIVQTEQIRSLSEAMSVEKIAAIKAKIMAKKRSTIKTDLDDDITALKQ    141 - 210
RSFVDAEVDVTRDIVSRERVWRTRTTILQSTGKNFSKNIFAILQSVKAREEGRAPEQRPAPNAAPVDPTL    211 - 280
RTKQPIPAAYNRYDQERFKGKEETEGFKIDTMGTYHGMTLKSVTEGASARKTQTPAAQPVPRPVSQARPP    281 - 350
PNQKKGSRTPIIIIPAATTSLITMLNAKDLLQDLKFVPSDEKKKQGCQRENETLIQRRKDQMQPGGTAIS    351 - 420
VTVPYRVVDQPLKLMPQDWDRVVAVFVQGPAWQFKGWPWLLPDGSPVDIFAKIKAFHLKYDEVRLDPNVQ    421 - 490
KWDVTVLELSYHKRHLDRPVFLRFWETLDRYMVKHKSHLRF                                 491 - 531
//

Text Mined References (114)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26742426 2016 Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26232434 2015 Parafibromin Is a Component of IFN-?-Triggered Signaling Pathways That Facilitates JAK1/2-Mediated Tyrosine Phosphorylation of STAT1.
26124004 2015 The clinicopathological significances and biological functions of parafibromin expression in head and neck squamous cell carcinomas.
25416956 2014 A proteome-scale map of the human interactome network.
25388829 2014 Cytoplasmic parafibromin/hCdc73 targets and destabilizes p53 mRNA to control p53-mediated apoptosis.
25218447 2014 Uncovering global SUMOylation signaling networks in a site-specific manner.
25113791 2014 A novel CDC73 gene mutation in an Italian family with hyperparathyroidism-jaw tumour (HPT-JT) syndrome.
24889687 2014 Upregulation of FGFR1 expression is associated with parathyroid carcinogenesis in HPT-JT syndrome due to an HRPT2 splicing mutation.
More...