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Tbio Phosphoribosyltransferase domain-containing protein 1

Has low, barely detectable phosphoribosyltransferase activity (in vitro). Binds GMP, IMP and alpha-D-5-phosphoribosyl 1-pyrophosphate (PRPP). Is not expected to contribute to purine metabolism or GMP salvage.

 Comments

Property Summary

NCBI Gene PubMed Count 13
Grant Count 2
Funding $184,078.5
PubMed Score 6.26
PubTator Score 4.87

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (16)

Disease Z-score Confidence
Lesch-Nyhan syndrome 12 4.77 2.4
Breast cancer 3,094
Mouth Neoplasms 42
Squamous cell carcinoma 94
acute myeloid leukemia 780
gastric cancer 430
invasive ductal carcinoma 2,950
lung carcinoma 2,844
non-small cell lung cancer 2,798
oligodendroglioma 2,849
ovarian neoplasm 97
pancreatic cancer 2,300
pancreatic carcinoma 567
pilocytic astrocytoma 3,086
post-traumatic stress disorder 45
posterior fossa group B ependymoma 1,530

Expression

  Differential Expression (11)

Disease log2 FC p
gastric cancer 1.200 0.010
pancreatic cancer 1.500 0.003
oligodendroglioma 1.100 0.000
posterior fossa group B ependymoma 1.400 0.000
non-small cell lung cancer 1.013 0.000
pilocytic astrocytoma 1.200 0.000
pancreatic carcinoma 1.500 0.003
invasive ductal carcinoma -1.700 0.000
lung carcinoma 1.900 0.000
Breast cancer -1.400 0.002
acute myeloid leukemia -2.200 0.044

Synonym

Accession Q9NRG1 B7Z1Z3 Q53HA7 Q59EL9 Q5VV18 Q5VV20
Symbols HHGP

Gene

PRTFDC1

PANTHER Protein Class (2)

 Grant Application (2)

PDB

2JBH  

 GO Function (3)

 GO Component (1)

 GO Process (1)

 Compartment GO Term (8)

 GWAS Trait (4)

 UniProt Keyword (8)

Gene RIF (4)

PMID Text
25456346 We found evidence for PRTFDC1 as a potential novel PTSD gene, a finding that awaits further replication.
21818316 These results demonstrate that PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.
21054786 The PRTFDC1 structure has been determined at 1.7 A resolution with bound GMP. The overall structure and GMP binding mode are very similar to that observed for HPRT.
17599052 epigenetic silencing of PRTFDC1 by hypermethylation of the CpG island leads to a loss of PRTFDC1 function, which might be involved in squamous cell oral carcinogenesis.

AA Sequence 

MAGSSEEAPDYGRGVVIMDDWPGYDLNLFTYPQHYYGDLEYVLIPHGIIVDRIERLAKDIMKDIGYSDIM      1 - 70
VLCVLKGGYKFCADLVEHLKNISRNSDRFVSMKVDFIRLKSYRNDQSMGEMQIIGGDDLSTLAGKNVLIV     71 - 140
EDVVGTGRTMKALLSNIEKYKPNMIKVASLLVKRTSRSDGFRPDYAGFEIPNLFVVGYALDYNEYFRDLN    141 - 210
HICVINEHGKEKYRV                                                           211 - 225
//

Text Mined References (17)

PMID Year Title
25456346 2015 Genomic predictors of combat stress vulnerability and resilience in U.S. Marines: A genome-wide association study across multiple ancestries implicates PRTFDC1 as a potential PTSD gene.
25416956 2014 A proteome-scale map of the human interactome network.
23934736 2013 Genome-wide association study of a heart failure related metabolomic profile among African Americans in the Atherosclerosis Risk in Communities (ARIC) study.
23251661 2012 Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
21818316 2011 PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse.
21054786 2010 Structural and functional studies of the human phosphoribosyltransferase domain containing protein 1.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
17599052 2007 PRTFDC1, a possible tumor-suppressor gene, is frequently silenced in oral squamous-cell carcinomas by aberrant promoter hypermethylation.
17207965 2007 hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes.
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