Property Summary

NCBI Gene PubMed Count 98
Grant Count 33
R01 Count 23
Funding $1,883,300.87
PubMed Score 186.22
PubTator Score 630.21

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (19)

Disease log2 FC p
malignant mesothelioma -2.100 0.000
astrocytic glioma -2.900 0.010
posterior fossa group B ependymoma -3.700 0.000
oligodendroglioma -2.400 0.016
glioblastoma multiforme -1.500 0.000
group 4 medulloblastoma -3.500 0.003
atypical teratoid / rhabdoid tumor -3.300 0.001
lung cancer 5.400 0.000
active Crohn's disease 5.656 0.000
Parkinson's disease -1.200 0.030
pancreatic cancer -1.600 0.012
fibroadenoma 1.300 0.000
interstitial cystitis 5.000 0.000
lung carcinoma 6.300 0.000
Alzheimer's disease -2.300 0.027
Pick disease -1.900 0.015
ulcerative colitis 3.200 0.000
Down syndrome -1.700 0.005
psoriasis 2.600 0.000

Gene RIF (72)

PMID Text
26345846 these common variants in PCSK1 and POMC were not the major cause of obesity in the Thai subjects sampled. However, variants in PCSK1 did affect cholesterol level, LDL-C level, and waist circumference.
26229104 Mechanism of Fine-tuning pH Sensors in Proprotein Convertases: IDENTIFICATION OF A pH-SENSING HISTIDINE PAIR IN THE PROPEPTIDE OF PROPROTEIN CONVERTASE 1/3.
26207343 Data show that prohormone convertase 1/3 (PC1/3) endoplasmic reticulum-retained mutants induce endoplasmic reticulum stress.
25784503 we demonstrate evidence that common gene variation in PCSK1 contributes to BMI variation and susceptibility to common obesity in the largest known meta-analysis published to date in genetic epidemiology.
25355447 SNPs rs6232, rs6234, and rs6235 associated with obesity in Caucasians [review]
25272002 conclude that the N309K enzyme is able to cleave its own propeptide but is catalytically inert against in trans substrates, and that this variant accounts for the enteric and systemic endocrinopathies seen in the consanguineous kindred studied
25189249 FTO-rs9939609, TMEM18-rs6548238 and PCSK1-rs6234 polymorphisms are significantly associated with body mass index in a southern Chinese population.
25031086 rs6232 associated with body mass index
24964673 Thais carrying SNPs rs6234-5 are at increased risk of obesity, and the risk of severe obesity increases when carrying both rs6234-5 and rs3811951, but not with rs271939. Patients with genetic variations at rs3811951 are at risk of having low HDL-C levels.
24932808 PC1/3(S357G) exhibited a lower calcium dependence; a higher pH optimum.
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AA Sequence

MERRAWSLQCTAFVLFCAWCALNSAKAKRQFVNEWAAEIPGGPEAASAIAEELGYDLLGQIGSLENHYLF      1 - 70
KHKNHPRRSRRSAFHITKRLSDDDRVIWAEQQYEKERSKRSALRDSALNLFNDPMWNQQWYLQDTRMTAA     71 - 140
LPKLDLHVIPVWQKGITGKGVVITVLDDGLEWNHTDIYANYDPEASYDFNDNDHDPFPRYDPTNENKHGT    141 - 210
RCAGEIAMQANNHKCGVGVAYNSKVGGIRMLDGIVTDAIEASSIGFNPGHVDIYSASWGPNDDGKTVEGP    211 - 280
GRLAQKAFEYGVKQGRQGKGSIFVWASGNGGRQGDNCDCDGYTDSIYTISISSASQQGLSPWYAEKCSST    281 - 350
LATSYSSGDYTDQRITSADLHNDCTETHTGTSASAPLAAGIFALALEANPNLTWRDMQHLVVWTSEYDPL    351 - 420
ANNPGWKKNGAGLMVNSRFGFGLLNAKALVDLADPRTWRSVPEKKECVVKDNDFEPRALKANGEVIIEIP    421 - 490
TRACEGQENAIKSLEHVQFEATIEYSRRGDLHVTLTSAAGTSTVLLAERERDTSPNGFKNWDFMSVHTWG    491 - 560
ENPIGTWTLRITDMSGRIQNEGRIVNWKLILHGTSSQPEHMKQPRVYTSYNTVQNDRRGVEKMVDPGEEQ    561 - 630
PTQENPKENTLVSKSPSSSSVGGRRDELEEGAPSQAMLRLLQSAFSKNSPPKQSPKKSPSAKLNIPYENF    631 - 700
YEALEKLNKPSQLKDSEDSLYNDYVDVFYNTKPYKHRDDRLLQALVDILNEEN                     701 - 753
//

Text Mined References (101)

PMID Year Title
26345846 2015 Association between rs155971 in the PCSK1 gene and the lipid profile of obese Thai children: a family-based study.
26229104 2015 Mechanism of Fine-tuning pH Sensors in Proprotein Convertases: IDENTIFICATION OF A pH-SENSING HISTIDINE PAIR IN THE PROPEPTIDE OF PROPROTEIN CONVERTASE 1/3.
26207343 2015 Revisiting PC1/3 Mutants: Dominant-Negative Effect of Endoplasmic Reticulum-Retained Mutants.
25784503 2015 Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systematic review and meta-analysis with evidence from up to 331 175 individuals.
25355447 2014 The association of common variants in PCSK1 with obesity: a HuGE review and meta-analysis.
25272002 2014 A novel familial mutation in the PCSK1 gene that alters the oxyanion hole residue of proprotein convertase 1/3 and impairs its enzymatic activity.
25231870 2014 Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
25189249 2014 Polymorphisms in FTO, TMEM18 and PCSK1 are associated with BMI in southern Chinese population.
25031086 2015 Common variants in PCSK1 influence blood pressure and body mass index.
24964673 2014 Effects of PCSK1 genetic variants on obesity among Thai children and their family members: in relation to health risk, and biochemical and anthropometric parameters.
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