Property Summary

NCBI Gene PubMed Count 40
PubMed Score 75.82
PubTator Score 85.08

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (16)

Disease log2 FC p
astrocytic glioma -2.800 4.0e-02
posterior fossa group A ependymoma -3.800 6.8e-10
glioblastoma -1.700 1.4e-02
oligodendroglioma -1.900 3.8e-08
osteosarcoma 1.255 1.3e-02
group 3 medulloblastoma -4.200 1.4e-03
atypical teratoid/rhabdoid tumor -2.900 1.9e-05
medulloblastoma, large-cell -1.800 4.7e-02
primitive neuroectodermal tumor -2.300 1.8e-02
pancreatic ductal adenocarcinoma liver m... -1.936 6.5e-03
pediatric high grade glioma -2.400 1.6e-03
pilocytic astrocytoma -3.400 1.0e-05
subependymal giant cell astrocytoma -5.466 3.6e-03
progressive supranuclear palsy -1.400 1.6e-02
ovarian cancer 1.100 2.8e-09
psoriasis -2.300 4.3e-35

Gene RIF (39)

PMID Text
26439389 Data shows that higher carnosine content in human skeletal muscle is positively associated with insulin resistance and fasting metabolic preference for glucose.
26206726 CNDP1 and CARNS are expressed in glomeruli and tubular cells; TauT is expressed in renal epithelial cells; CDNP1 may have a role in diabetic neuropathy
25898255 In gastrointestinal cancer, reduced plasma levels of CNDP1 associate with signs of catabolism and poor outcome.
24566305 Alterations of serum carnosinase (CN1) activity has been associated with several pathological conditions, such as neurological disorders, chronic diseases and cancer
23402577 This meta-analysis confirms that the carnosinase D18S880 microsatellite polymorphism is associated with daibetic nephropathy susceptibility, especially in the type 2 DM and the Caucasian population.
23342076 Rs12604675-A in CNDP1 may confer susceptibility to overt proteinuria in Japanese women with type 2 diabetes.
23029420 Plasma levels of FLT and S100A9 proteins are up-regulated and CNDP1 levels are down-regulated in patients with glioblastoma.
22706107 In this review, correlations between serum carnosine and carnosinase activity and polymorphism in CNDP1 gene are analyzed. The role of CNDP1 gene polymorphism the development of diabetic nephropathy and non-diabetic chronic kidney disease is discussed.
21573905 Common variants in CNDP1 and CNDP2 play a role in susceptibility to kidney disease in patients with type 2 diabetes.
21393041 These findings provide nominal evidence supporting a role between CNDP1 variants and diabetic kidney disease.
20979941 CTG polymorphism of the CNDP1 gene does not affect survival of Chinese peritoneal dialysis subjects.
20979941 Observational study of gene-disease association. (HuGE Navigator)
20971102 Serum histidine dipeptide concentrations are not correlated to serum carnosinase activity
20971102 Observational study of gene-disease association. (HuGE Navigator)
20865290 neither CNDP1 genotype nor the normal variation in circulating testosterone levels affects the muscular carnosine content
20865290 Observational study of gene-disease association. (HuGE Navigator)
20851293 Observational study of gene-disease association. (HuGE Navigator)
20711718 CNDP1 polymorphism predicts progression to ESRD in patients with diabetic nephropathies, but only late after baseline measurements.
20711718 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20460427 Hyperglycemia enhances CNDP1 secretion and enzyme activity; data suggest that poor blood glucose control in diabetic patients might result in an increased enzyme secretion even in the presence of the (CTG)(5) allele.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20332346 Association between the CNDP1 gene and diabetic nephropathy is sex specific and independent of susceptibility for type 2 diabetes.
20332346 Observational study of gene-disease association. (HuGE Navigator)
20299368 Observational study of gene-disease association. (HuGE Navigator)
19929986 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19577318 South Asian Surinamese have a lower frequency of the 5/5 homozygous genotype, which was associated with lower carnosinase activity and genetic risk for developing diabetic nephropathy.
19373489 Observational study of gene-disease association. (HuGE Navigator)
18753673 Our large, comprehensive study did not find an association between the D18S880 microsatellite or any other polymorphisms in the CNDP2-CNDP1 genomic region and susceptibility for diabetic nephropathy in type 1 diabetes
18753673 Observational study of gene-disease association. (HuGE Navigator)
17601992 CN1-dependent susceptibility to diabetic nephropathy may at least in part be mediated by altered glucose metabolism in type 2 diabetic patients.
17601991 Diabetic patients homozygous for CNDP1 are protected against diabetic nephropathy.
17205963 Observational study of gene-disease association. (HuGE Navigator)
17205963 This replicates the CNDP1 gene association with diabetic nephropathy (DN) that was initially detected in European Caucasians and in Arabs, and further demonstrates that the CNDP1 gene and carnosine pathway appear to play a role in susceptibility to DN.
17121880 CPGL-B may be associated with cell growth and metastasis of HCC.
16965804 Observational study of gene-disease association. (HuGE Navigator)
16965804 no difference in allele or genotype frequency between centenarians & controls or between cardiovascular patients & controls; the recently identified functional carnosinase variant does not contribute to longevity or protect against coronary heart disease
16046297 Observational study of gene-disease association. (HuGE Navigator)
16046297 diabetic patients with the carnosinase CNDP1 gene Mannheim variant are less susceptible for nephropathy
14560319 GCP II mRNA was detected in glial cells. Glial-rich regions, specifically the DLPFC and ERC white matter and the molecular and polymorphic layers in the hippocampus, express high levels of GCP II mRNA.

AA Sequence

MDPKLGRMAASLLAVLLLLLERGMFSSPSPPPALLEKVFQYIDLHQDEFVQTLKEWVAIESDSVQPVPRF      1 - 70
RQELFRMMAVAADTLQRLGARVASVDMGPQQLPDGQSLPIPPIILAELGSDPTKGTVCFYGHLDVQPADR     71 - 140
GDGWLTDPYVLTEVDGKLYGRGATDNKGPVLAWINAVSAFRALEQDLPVNIKFIIEGMEEAGSVALEELV    141 - 210
EKEKDRFFSGVDYIVISDNLWISQRKPAITYGTRGNSYFMVEVKCRDQDFHSGTFGGILHEPMADLVALL    211 - 280
GSLVDSSGHILVPGIYDEVVPLTEEEINTYKAIHLDLEEYRNSSRVEKFLFDTKEEILMHLWRYPSLSIH    281 - 350
GIEGAFDEPGTKTVIPGRVIGKFSIRLVPHMNVSAVEKQVTRHLEDVFSKRNSSNKMVVSMTLGLHPWIA    351 - 420
NIDDTQYLAAKRAIRTVFGTEPDMIRDGSTIPIAKMFQEIVHKSVVLIPLGAVDDGEHSQNEKINRWNYI    421 - 490
EGTKLFAAFFLEMAQLH                                                         491 - 507
//

Text Mined References (41)

PMID Year Title
26439389 2015 Muscle Carnosine Is Associated with Cardiometabolic Risk Factors in Humans.
26206726 2015 Intrinsic carnosine metabolism in the human kidney.
25898255 2015 Circulating carnosine dipeptidase 1 associates with weight loss and poor prognosis in gastrointestinal cancer.
24891507 2014 Metabolite proofreading in carnosine and homocarnosine synthesis: molecular identification of PM20D2 as ?-alanyl-lysine dipeptidase.
24566305 2014 Carnosinases, their substrates and diseases.
23402577 2013 D18S880 microsatellite polymorphism of carnosinase gene and diabetic nephropathy: a meta-analysis.
23342076 2013 The influence of a single nucleotide polymorphism within CNDP1 on susceptibility to diabetic nephropathy in Japanese women with type 2 diabetes.
23029420 2012 Proteins with altered levels in plasma from glioblastoma patients as revealed by iTRAQ-based quantitative proteomic analysis.
22706107 2012 [Carnosine, carnosinase and kidney diseases].
21573905 2011 Common variants in CNDP1 and CNDP2, and risk of nephropathy in type 2 diabetes.
21393041 2011 Association of variants in the carnosine peptidase 1 gene (CNDP1) with diabetic nephropathy in American Indians.
20979941 2010 Relationship between carnosinase gene CNDP1 leucine repeat polymorphism and the clinical outcome of Chinese PD patients.
20971102 2011 Anserine inhibits carnosine degradation but in human serum carnosinase (CN1) is not correlated with histidine dipeptide concentration.
20865290 2011 Vegetarianism, female gender and increasing age, but not CNDP1 genotype, are associated with reduced muscle carnosine levels in humans.
20851293 2010 Is carnosinase 1 gene (CNDP1) polymorphism associated with chronic kidney disease progression in children and young adults? results of a family-based study.
20711718 2010 A polymorphism in the gene encoding carnosinase (CNDP1) as a predictor of mortality and progression from nephropathy to end-stage renal disease in type 1 diabetes mellitus.
20460427 2010 N-glycosylation of carnosinase influences protein secretion and enzyme activity: implications for hyperglycemia.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20332346 2010 Association between CNDP1 genotype and diabetic nephropathy is sex specific.
20299368 2010 Examination of association with candidate genes for diabetic nephropathy in a Mexican American population.
19929986 2009 Genome-wide SNP genotyping study using pooled DNA to identify candidate markers mediating susceptibility to end-stage renal disease attributed to Type 1 diabetes.
19577318 2009 Lower frequency of the 5/5 homozygous CNDP1 genotype in South Asian Surinamese.
19373489 2009 The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-Americans.
18753673 2008 Exclusion of polymorphisms in carnosinase genes (CNDP1 and CNDP2) as a cause of diabetic nephropathy in type 1 diabetes: results of large case-control and follow-up studies.
17601992 2007 L-carnosine, a substrate of carnosinase-1, influences glucose metabolism.
17601991 2007 A CTG polymorphism in the CNDP1 gene determines the secretion of serum carnosinase in Cos-7 transfected cells.
17205963 2007 A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans.
17121880 2006 Identification of carboxypeptidase of glutamate like-B as a candidate suppressor in cell growth and metastasis in human hepatocellular carcinoma.
16965804 2006 Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease.
16335952 Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry.
16177791 2005 DNA sequence and analysis of human chromosome 18.
16046297 2005 Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14560319 2004 Glutamate carboxypeptidase II gene expression in the human frontal and temporal lobe in schizophrenia.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12473676 2003 Sequence identification and characterization of human carnosinase and a closely related non-specific dipeptidase.
11329013 2001 Creation of genome-wide protein expression libraries using random activation of gene expression.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
7116644 1982 Human serum carnosinase: characterization, distinction from cellular carnosinase, and activation by cadmium.
6616870 1983 Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine.