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Aliases for CNDP1 Gene

Aliases for CNDP1 Gene

  • Carnosine Dipeptidase 1 (Metallopeptidase M20 Family) 2 3
  • Glutamate Carboxypeptidase-Like Protein 2 2 3 4
  • CN1 3 4 6
  • CNDP Dipeptidase 1 3 4
  • Serum Carnosinase 3 4
  • Carnosinase 1 2 3
  • CPGL2 3 4
  • Beta-Ala-His Dipeptidase 3
  • Carnosine Dipeptidase 1 4
  • EC 3.4.13.20 4
  • HsT2308 3

External Ids for CNDP1 Gene

Summaries for CNDP1 Gene

Entrez Gene Summary for CNDP1 Gene

  • This gene encodes a member of the M20 metalloprotease family. The encoded protein is specifically expressed in the brain, is a homodimeric dipeptidase which was identified as human carnosinase. This gene contains trinucleotide (CTG) repeat length polymorphism in the coding region. [provided by RefSeq, Jul 2008]

GeneCards Summary for CNDP1 Gene

CNDP1 (Carnosine Dipeptidase 1 (Metallopeptidase M20 Family)) is a Protein Coding gene. Diseases associated with CNDP1 include homocarnosinosis. Among its related pathways are Arginine and proline metabolism and Metabolism. GO annotations related to this gene include metallopeptidase activity and dipeptidase activity. An important paralog of this gene is CNDP2.

Gene Wiki entry for CNDP1 Gene

No data available for UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNDP1 Gene

Genomics for CNDP1 Gene

Genomic Location for CNDP1 Gene

Start:
74,534,440 bp from pter
End:
74,587,212 bp from pter
Size:
52,773 bases
Orientation:
Plus strand

Genomic View for CNDP1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CNDP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNDP1 Gene

Regulatory Elements for CNDP1 Gene

Proteins for CNDP1 Gene

  • Protein details for CNDP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KN2-CNDP1_HUMAN
    Recommended name:
    Beta-Ala-His dipeptidase
    Protein Accession:
    Q96KN2
    Secondary Accessions:
    • Q14D40
    • Q17S05
    • Q2TBG0
    • Q6UWK2
    • Q9BT98

    Protein attributes for CNDP1 Gene

    Size:
    507 amino acids
    Molecular mass:
    56706 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 2 Zn(2+) ions per subunit.;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for CNDP1 Gene

neXtProt entry for CNDP1 Gene

Proteomics data for CNDP1 Gene at MOPED

Post-translational modifications for CNDP1 Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn322 and Asn382

Other Protein References for CNDP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CNDP1 Gene

Domains for CNDP1 Gene

UniProtKB/Swiss-Prot:

CNDP1_HUMAN
Family:
  • Belongs to the peptidase M20A family.:
    • Q96KN2
genes like me logo Genes that share domains with CNDP1: view

Function for CNDP1 Gene

Molecular function for CNDP1 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=1.27 uM for carnosine (at 30 degrees Celsius and in the absence of cadmium ions) {ECO:0000269 PubMed:12473676}; KM=11.00 uM for carnosine (at 30 degrees Celsius and in the presence of 200 uM cadmium ions) {ECO:0000269 PubMed:12473676}; KM=0.20 uM for homocarnosine (at 30 degrees Celsius and in the absence of cadmium ions) {ECO:0000269 PubMed:12473676}; KM=1.0 uM for homocarnosine (at 30 degrees Celsius and in the presence of 200 uM cadmium ions) {ECO:0000269 PubMed:12473676}; Note=1 hour incubation in 50 mM Tris-HCl, pH 7.5.; pH dependence: Optimum pH is 8.5. {ECO:0000269 PubMed:12473676};
UniProtKB/Swiss-Prot CatalyticActivity: Preferential hydrolysis of the beta-Ala- -His dipeptide (carnosine), and also anserine, Xaa- -His dipeptides and other dipeptides including homocarnosine.
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by the metal chelator 1,10-o-phenantrolin. The inhibitory concentration 50% (IC(50)) is 5 uM

Enzyme Numbers (IUBMB) for CNDP1 Gene

Gene Ontology (GO) - Molecular Function for CNDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004180 carboxypeptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity --
GO:0016805 dipeptidase activity IEA --
GO:0034701 tripeptidase activity IEA --
genes like me logo Genes that share ontologies with CNDP1: view

Phenotypes for CNDP1 Gene

GenomeRNAi human phenotypes for CNDP1:
genes like me logo Genes that share phenotypes with CNDP1: view

miRNA for CNDP1 Gene

miRTarBase miRNAs that target CNDP1

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for CNDP1 Gene

Localization for CNDP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNDP1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CNDP1 Gene COMPARTMENTS Subcellular localization image for CNDP1 gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CNDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
genes like me logo Genes that share ontologies with CNDP1: view

Pathways for CNDP1 Gene

genes like me logo Genes that share pathways with CNDP1: view

Pathways by source for CNDP1 Gene

1 GeneGo (Thomson Reuters Life Sciences Research) pathway for CNDP1 Gene

Interacting Proteins for CNDP1 Gene

Gene Ontology (GO) - Biological Process for CNDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with CNDP1: view

Compounds for CNDP1 Gene

(10) HMDB Compounds for CNDP1 Gene

Compound Synonyms Cas Number PubMed IDs
1-Methylhistidine
  • 1 methylhistidine
332-80-9
3-Methylhistidine
  • 3-methyl-L-histidine
368-16-1
Anserine
  • Anserine
584-85-0
Beta-Alanine
  • 2-Carboxyethylamine
107-95-9
Cadmium
  • Cd
7440-43-9

(1) Novoseek inferred chemical compound relationships for CNDP1 Gene

Compound -log(P) Hits PubMed IDs
carnosine 89.7 5
genes like me logo Genes that share compounds with CNDP1: view

Transcripts for CNDP1 Gene

Unigene Clusters for CNDP1 Gene

Carnosine dipeptidase 1 (metallopeptidase M20 family):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CNDP1 Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b
SP1: - - -
SP2: - - -
SP3: - - - -
SP4: - -
SP5: -
SP6:

Relevant External Links for CNDP1 Gene

GeneLoc Exon Structure for
CNDP1
ECgene alternative splicing isoforms for
CNDP1

Expression for CNDP1 Gene

mRNA expression in normal human tissues for CNDP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNDP1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (11.3), Brain - Substantia nigra (8.8), Brain - Putamen (basal ganglia) (5.3), Brain - Hippocampus (5.1), and Brain - Hypothalamus (4.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CNDP1 Gene

SOURCE GeneReport for Unigene cluster for CNDP1 Gene Hs.400613

mRNA Expression by UniProt/SwissProt for CNDP1 Gene

Q96KN2-CNDP1_HUMAN
Tissue specificity: Found in serum and adult nervous central system. Absent in serum from patients with homocarnosinosis.
genes like me logo Genes that share expressions with CNDP1: view

Orthologs for CNDP1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CNDP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNDP1 36
  • 98.69 (n)
  • 97.44 (a)
CNDP1 37
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CNDP1 36
  • 80.54 (n)
  • 79.88 (a)
CNDP1 37
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CNDP1 36
  • 84.52 (n)
  • 86.36 (a)
CNDP1 37
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cndp1 36
  • 80.77 (n)
  • 81.54 (a)
Cndp1 16
Cndp1 37
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CNDP1 37
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNDP1 37
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cndp1 36
  • 81.28 (n)
  • 82.46 (a)
chicken
(Gallus gallus)
Aves CNDP1 36
  • 67.57 (n)
  • 66.53 (a)
CNDP1 37
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNDP1 37
  • 62 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia MGC68563 36
tropical clawed frog
(Silurana tropicalis)
Amphibia cndp1 36
  • 64.18 (n)
  • 63.83 (a)
zebrafish
(Danio rerio)
Actinopterygii CNDP1 37
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17337 37
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pes-9 37
  • 47 (a)
ManyToMany
Y71H2AM.11 37
  • 45 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DUG1 37
  • 44 (a)
OneToMany
DUG2 39
Species with no ortholog for CNDP1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNDP1 Gene

ENSEMBL:
Gene Tree for CNDP1 (if available)
TreeFam:
Gene Tree for CNDP1 (if available)

Paralogs for CNDP1 Gene

Paralogs for CNDP1 Gene

Selected SIMAP similar genes for CNDP1 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with CNDP1: view

Variants for CNDP1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CNDP1 Gene

Q96KN2-CNDP1_HUMAN
The number of trinucleotide (CTG) repeat varies among different alleles leading to insertion of Leu residues in the signal peptide. The allele with 5 leucines (as shown in the reference entry) is known as the Mannheim allele. Diabetic patients with the CNDP1 Mannheim allele are less susceptible for nephropathy

Sequence variations from dbSNP and Humsavar for CNDP1 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs2887 -- 74,584,901(-) CAAAC(C/T)GGAGT utr-variant-3-prime
rs733686 -- 74,555,980(-) TAAGG(C/T)AGAAC intron-variant
rs890332 -- 74,533,065(-) GTCCC(A/G)GGGCT upstream-variant-2KB
rs890333 -- 74,532,858(-) AGGGC(C/G)GGGCC upstream-variant-2KB
rs1004453 -- 74,541,040(-) AACGC(C/T)GCTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CNDP1 Gene

Variant ID Type Subtype PubMed ID
nsv909919 CNV Gain 21882294
nsv909920 CNV Gain 21882294
nsv909921 CNV Gain 21882294

Relevant External Links for CNDP1 Gene

HapMap Linkage Disequilibrium report
CNDP1
Human Gene Mutation Database (HGMD)
CNDP1

Disorders for CNDP1 Gene

(1) MalaCards Diseases for CNDP1 Gene

Search for CNDP1 Gene in MalaCards »

(1) University of Copenhagen DISEASES for CNDP1 Gene

(4) Novoseek inferred disease relationships for CNDP1 Gene

Disease -log(P) Hits PubMed IDs
diabetic nephropathies 79.1 16
renal disease 41.8 5
renal failure chronic 40.3 1
diabetes mellitus 13 1

Relevant External Links for CNDP1

Genetic Association Database (GAD)
CNDP1
Human Genome Epidemiology (HuGE) Navigator
CNDP1
genes like me logo Genes that share disorders with CNDP1: view

No data available for UniProtKB/Swiss-Prot for CNDP1 Gene

Publications for CNDP1 Gene

  1. Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1. (PMID: 16046297) Janssen B. … van der Woude F.J. (Diabetes 2005) 3 4 23 49
  2. Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease. (PMID: 16965804) Zschocke J. … Schreiber S. (Mech. Ageing Dev. 2006) 3 23 49
  3. A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans. (PMID: 17205963) Freedman B.I. … Bowden D.W. (Nephrol. Dial. Transplant. 2007) 3 23 49
  4. 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. (PMID: 18753673) Wanic K. … Krolewski A.S. (Diabetes 2008) 3 23 49
  5. The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-Americans. (PMID: 19373489) McDonough C.W. … Bowden D.W. (Hum. Genet. 2009) 3 23 49

Products for CNDP1 Gene

  • Addgene plasmids for CNDP1

Sources for CNDP1 Gene

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