Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CNDP1 contributors: mct - updated : 13-07-2010
HGNC name carnosine dipeptidase 1 (metallopeptidase M20 family)
HGNC id 20675
Location 18q22.3      Physical location : 72.201.691 - 72.252.259
Synonym name
  • carnosinase 1
  • glutamate carboxypeptidase-like protein 2
  • CNDP dipeptidase 1
  • serum carnosinase
  • beta-Ala-His dipeptidase
    • Synonym symbol(s) MGC10825, CN1, CPGL2, HsT2308, MGC102737, MGC142072
    EC.number 3.4.13.20
    DNA
    TYPE functioning gene
    STRUCTURE 50.57 kb     12 Exon(s)
    motif repetitive sequence   triplet
    text structure trinucleotide (CTG) repeat length polymorphism in the coding region
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    12 - 2211 - 507 - -
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrain   specific
     nerve    
    Skin/Tegumentskin    
    Visualeye    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    conjugated GlycoP
    mono polymer homomer , dimer
    HOMOLOGY
    interspecies homolog to murine Cndp1 (81.7pc)
    homolog to rattus Cndp1 (82.5pc)
    Homologene
    FAMILY
  • M20 metalloprotease family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION extracellular
        intracellular
    intracellular,cytoplasm
    basic FUNCTION
  • potential neuroprotective and neurotransmitter functions, degrading carnosine, homocarnosine and other related peptides (Teufel 2003)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • homodimeric peptidase
    • INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • binding two Zn2+ ions per subunit
    • protein
    cell & other
    REGULATION
    inhibited by the metal chelator phenantrolin
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility to diabetic nephropathy, may at least be mediated by altered glucose metabolism in type 2 diabetic patients (Sauerhöfer 2007)
    Variant & Polymorphism repeat
  • trinucleotide repeat in exon 2, coding for a leucine repeat in the leader peptide of the carnosinase-1 precursor, was associated with diabetic nephropathy
  • diabetic patients with the Mannheim allele (5 Leucines) are less susceptible to nephropathy (Janssen 2005)
    • Candidate gene
  • deficiency of CNDP1 may cause homocarcinosis
  • association between the CNDP1 gene and diabetic nephropathy is ex specific (Mooyaart 2010)
    • Marker
    Therapy target
  • CNDP1 secretion is significantly higher in cells expressing variants with more than 5 leucines in the signal peptide, it might explain why patients with homozygous 5L allele have low serum carnosinase activity and are protected against diabetic nephropathy (Riedl 2007)
    • ANIMAL & CELL MODELS