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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CNDP1 Gene

protein-coding   GIFtS: 65
GCID: GC18P072201

Carnosine Dipeptidase 1 (Metallopeptidase M20 Family)

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Carnosine Dipeptidase 1 (Metallopeptidase M20 Family)1 2     CNDP Dipeptidase 12 3
Glutamate Carboxypeptidase-Like Protein 21 2 3     HsT23082
CN12 3 5     Beta-Ala-His Dipeptidase2
Carnosinase 11 2     EC 3.4.13.203
Serum Carnosinase2 3     Carnosine Dipeptidase 13
CPGL22 3     

External Ids:    HGNC: 206751   Entrez Gene: 847352   Ensembl: ENSG000001506567   OMIM: 6090645   UniProtKB: Q96KN23   

Export aliases for CNDP1 gene to outside databases

Previous GC identifers: GC18P070351 GC18P070352 GC18P068933


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and end stage renal failure, and among its related super-pathways are Beta-alanine 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.2  NT_025028.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CNDP1 gene promoter:
         FOXD3   CUTL1   HNF-4alpha2   LCR-F1   HNF-4alpha1   AREB6   HOXA5   ARP-1   STAT3   ZID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNDP1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CNDP1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CNDP1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 18q22.3   Ensembl cytogenetic band:  18q22.3   HGNC cytogenetic band: 18q22.3

CNDP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNDP1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P072201:  view genomic region     (about GC identifiers)

Start:
72,201,675 bp from pter      End:
72,254,448 bp from pter
Size:
52,774 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CNDP1_HUMAN, Q96KN2 (See protein sequence)
Recommended Name: Beta-Ala-His dipeptidase precursor  
Size: 507 amino acids; 56706 Da
Cofactor: Binds 2 zinc ions per subunit
Subunit: Homodimer
Subcellular location: Secreted
1 PDB 3D structure from and Proteopedia for CNDP1:
3DLJ (3D)    
Secondary accessions: Q14D40 Q17S05 Q2TBG0 Q6UWK2 Q9BT98

Explore the universe of human proteins at neXtProt for CNDP1: NX_Q96KN2

Explore proteomics data for CNDP1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q96KN2

  • CNDP1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CNDP1 Protein Expression
    REFSEQ proteins: NP_116038.4  
    ENSEMBL proteins: 
     ENSP00000351682   ENSP00000462096   ENSP00000463807  

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    Sino Biological Recombinant Protein for CNDP1
    Sino Biological Cell Lysate for CNDP1 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CNDP1 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    CNDP1 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: Carnosine dipeptidase 1 (metallopeptidase M20 family) 
    Metallocarboxypeptidases

    4 InterPro protein domains:
     IPR017153 GSH_degradosome_DUG1
     IPR011650 Peptidase_M20_dimer
     IPR001261 ArgE/DapE_CS
     IPR002933 Peptidase_M20

    Graphical View of Domain Structure for InterPro Entry Q96KN2

    ProtoNet protein and cluster: Q96KN2

    2 Blocks protein domains:
    IPB001261 ArgE/dapE/ACY1/CPG2/yscS
    IPB011650 Peptidase dimerisation


    UniProtKB/Swiss-Prot: CNDP1_HUMAN, Q96KN2
    Similarity: Belongs to the peptidase M20A family


    CNDP1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CNDP1_HUMAN, Q96KN2
    Catalytic activity: Preferential hydrolysis of the beta-Ala- -His dipeptide (carnosine), and also anserine, Xaa-
    -His dipeptides and other dipeptides including homocarnosine
    Enzyme regulation: Inhibited by the metal chelator 1,10-o-phenantrolin. The inhibitory concentration 50% (IC(50))
    is 5 uM
    Biophysicochemical properties: Kinetic parameters: KM=1.27 uM for carnosine (at 30 degrees Celsius and in the
    absence of cadmium ions); KM=11.00 uM for carnosine (at 30 degrees Celsius and in the presence of 200 uM cadmium
    ions); KM=0.20 uM for homocarnosine (at 30 degrees Celsius and in the absence of cadmium ions); KM=1.0 uM for
    homocarnosine (at 30 degrees Celsius and in the presence of 200 uM cadmium ions); Note=1 hour incubation in 50 mM
    Tris-HCl, pH 7.5; pH dependence: Optimum pH is 8.5;

         Enzyme Number (IUBMB): EC 3.4.13.201

         Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004180carboxypeptidase activity IEA--
    GO:0008237metallopeptidase activity IEA--
    GO:0016787hydrolase activity ----
    GO:0016805dipeptidase activity IEA--
    GO:0034701tripeptidase activity IEA--
         
    CNDP1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CNDP1:
     Decreased viability with pacli 

         1 MGI phenotypic allele for Cndp1 (no phenotypes)

    CNDP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cndp1tm1Lex for CNDP1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CNDP1 
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    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNDP1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CNDP1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Beta-alanine metabolism
    Beta-alanine metabolism0.90
    2Metabolism
    Metabolic pathways0.40
    3Arginine and proline metabolism
    Arginine and proline metabolism0.35
    4beta-Alanine metabolism
    beta-Alanine metabolism
    5Histidine metabolism
    Histidine metabolism

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CNDP1
        Beta-alanine metabolism


    1 GeneGo (Thomson Reuters) Pathway for CNDP1
        Beta-alanine metabolism



    4         Kegg Pathways  (Kegg details for CNDP1):
        Arginine and proline metabolism
    Histidine metabolism
    beta-Alanine metabolism
    Metabolic pathways


    CNDP1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CNDP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/27 Interacting proteins for CNDP1 (ENSP000003516824) via UniProtKB, MINT, STRING, and/or I2D (see all 27)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CARNS1ENSP000003082684STRING: ENSP00000308268
    GAD2ENSP000002592714STRING: ENSP00000259271
    HALENSP000002612084STRING: ENSP00000261208
    HDCENSP000002678454STRING: ENSP00000267845
    ABATENSP000002682514STRING: ENSP00000268251
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis IEA--
    GO:0008152metabolic process ----

    CNDP1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CNDP1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CNDP1

    10 HMDB Compounds for CNDP1    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Methylhistidine1 methylhistidine (see all 9)332-80-97375183
    3-Methylhistidine3-methyl-L-histidine (see all 13)368-16-1--
    AnserineAnserine (see all 7)584-85-0--
    Beta-Alanine2-Carboxyethylamine (see all 21)107-95-9--
    CadmiumCd (see all 6)7440-43-9--
    CarnosineBeta-Alanyl-L-histidine (see all 14)305-84-0--
    Citric acid2-Hydroxy-1,2,3-propanetricarboxylate (see all 20)77-92-9--
    HomocarnosineHomocarnosine (see all 8)3650-73-5--
    L-Histidine(S)-1H-Imidazole-4-alanine (see all 20)71-00-1--
    WaterDihydrogen oxide (see all 2)7732-18-5--

    1 Novoseek inferred chemical compound relationship for CNDP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    carnosine 89.7 8 19915793 (2), 16965804 (1), 17205963 (1), 19368810 (1)

    Search CenterWatch for drugs/clinical trials and news about CNDP1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CNDP1 gene: 
    NM_032649.5  

    Unigene Cluster for CNDP1:

    Carnosine dipeptidase 1 (metallopeptidase M20 family)
    Hs.400613  [show with all ESTs]
    Unigene Representative Sequence: AK131263
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000358821(uc002llq.3) ENST00000585136 ENST00000582365 ENST00000584316
    ENST00000584004(uc002lls.3) ENST00000578498 ENST00000582461
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    2 QIAGEN miScript miRNA Assays for microRNAs that regulate CNDP1:
    hsa-miR-641 hsa-miR-3617
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    Inhib. RNA
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    Additional mRNA sequence: 

    AJ417564.1 AK098369.1 AK131263.1 AK289916.1 AK303708.1 AK308716.1 AK314572.1 AY358756.1 
    BC110295.1 BC113512.1 BC117122.1 

    8 DOTS entries:

    DT.40230611  DT.405005  DT.121096529  DT.97797211  DT.121096558  DT.121096564  DT.95181016  DT.95181018 

    24/81 AceView cDNA sequences (see all 81):

    AV725146 AI361251 CR610360 AI939620 BI489508 AW026198 BX453730 BI821574 
    AJ417564 BP349556 BI600248 BM698797 BX422768 AI422476 AI498527 AK098369 
    BX432016 BM669584 BX110726 BE386438 BE386547 BQ338465 BM920701 AK131263 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for CNDP1 (see all 6)    About this scheme

    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:              -                                                                                                   


    ECgene alternative splicing isoforms for CNDP1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CNDP1 expression in normal human tissues (normalized intensities)      CNDP1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTCTAGGAC
    CNDP1 Expression
    About this image


    CNDP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Kidney (Urinary System)
             Metanephros
     
     Eye (Sensory Organs)
             sensory organ/eye/cornea   
     
     Colon (Gastrointestinal Tract)
             colon ; peripheral nerve/ganglion   

    See CNDP1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CNDP1

    SOURCE GeneReport for Unigene cluster: Hs.400613

    UniProtKB/Swiss-Prot: CNDP1_HUMAN, Q96KN2
    Tissue specificity: Found in serum and adult nervous central system. Absent in serum from patients with
    homocarnosinosis

        SABiosciences Expression via Pathway-Focused PCR Array including CNDP1: 
              Amino Acid Metabolism II in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNDP1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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

    Orthologs for CNDP1 gene from 8/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cndp11 , 5 carnosine dipeptidase 1 (metallopeptidase M20 family)1, 5 80.77(n)1
    81.54(a)1
      18 (57.53 cM)5
    3384031  NM_177450.41  NP_803233.21 
     846105095 
    chicken
    (Gallus gallus)
    Aves CNDP11 carnosine dipeptidase 1 (metallopeptidase M20 family) 67.94(n)
    66.95(a)
      421012  XM_419098.3  XP_419098.3 
    lizard
    (Anolis carolinensis)
    Reptilia CNDP16
    --
    Uncharacterized protein
    62(a)
    51(a)
    1 ↔ 1
    possible ortholog
    4(49231635-49258162)
    AAWZ02036536(8178-24816)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC685632 hypothetical protein MGC68563 73.16(n)    BC060450.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CNDP16
    carnosine dipeptidase 1 (metallopeptidase M20 fami...
    37(a)
    1 ↔ 1
    16(58528721-58552743)
    fruit fly
    (Drosophila melanogaster)
    Insecta CG173376
    --
    49(a)
    1 → many
    2R(1585359-1587717)
    worm
    (Caenorhabditis elegans)
    Secernentea pes-96
    Y71H2AM.116
    Protein Y71H2AM.11
    47(a)
    45(a)
    many ↔ many
    many ↔ many
    V(14595268-14597067)
    III(2718158-2725092)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DUG2(YBR281C)4 Probable di- and tri-peptidase; forms a complex with more   --   2(767606-764970) 852584  NP_009840.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CNDP1 gene
    CNDP22  
    2 SIMAP similar genes for CNDP1 using alignment to 3 protein entries:     CNDP1_HUMAN (see all proteins):
    FLJ00064    CNDP2

    CNDP1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: CNDP1_HUMAN, Q96KN2
    Polymorphism: 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


    10/1397 SNPs in CNDP1 are shown (see all 1397)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0271494
    ----see VAR_0271492 I V mis40--------
    rs786637271,2
    C--68932563(+) ATCTTA/TAGATA 1 -- us2k10--------
    rs560198001,2
    C--68969567(+) ATAAT-/AATAATA 1 -- int10--------
    rs559404521,2
    C--68983504(+) CAAAT-/GTT   
      T
    /TGTT
    ATTTA
    1 -- int10--------
    rs1399110571,2
    --72053337(+) CGCCCA/GTGCGC 1 -- us2k10--------
    rs1858856441,2
    --72053383(+) GGCAAG/TGTTTT 1 -- us2k10--------
    rs765461091,2
    C,F--72053397(+) CTGATG/AACTGC 1 -- us2k11Minor allele frequency- A:0.19WA 118
    rs1898097531,2
    --72053478(+) TCCAGC/TCCTCG 1 -- us2k10--------
    rs1417899521,2
    --72053632(+) AGAGAC/TGCAGC 1 -- us2k10--------
    rs581345551,2
    C,F--72053647(+) GGAGAC/TGCTGC 1 -- us2k11Minor allele frequency- T:0.19WA 118

    HapMap Linkage Disequilibrium report for CNDP1 (72201675 - 72254448 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CNDP1:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv909921CNV Gain21882294
    nsv909920CNV Gain21882294
    nsv909919CNV Gain21882294


    Human Gene Mutation Database (HGMD): CNDP1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CNDP1
    DNA2.0 Custom Variant and Variant Library Synthesis for CNDP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 609064    OMIM disorders: --

    13 diseases for CNDP1:    About MalaCards
    homocarnosinosis    end stage renal failure    type 1 diabetes    type 1 diabetes mellitus
    hyperglycemia    diabetes mellitus    coronary heart disease    kidney disease
    pneumonia    tuberculosis    schizophrenia    hepatocellular carcinoma
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for CNDP1:
    Homocarnosinosis

    CNDP1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    4 Novoseek inferred disease relationships for CNDP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    diabetic nephropathies 79.1 17 20332346 (3), 18753673 (3), 19373489 (3), 17601992 (1) (see all 10)
    renal disease 41.8 6 16046297 (3), 17205963 (2)
    renal failure chronic 40.3 1 17205963 (1)
    diabetes mellitus 13 1 17205963 (1)

    Genetic Association Database (GAD): CNDP1
    Human Genome Epidemiology (HuGE) Navigator: CNDP1 (18 documents)

    Export disorders for CNDP1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CNDP1 gene, integrated from 9 sources (see all 47):
    (articles sorted by number of sources associating them with CNDP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1. (PubMed id 16046297)1, 2, 4, 9 Janssen B.... van der Woude F.J. (2005)
    2. Sequence identification and characterization of human carnosinase and a closely related non-specific dipeptidase. (PubMed id 12473676)1, 2, 3 Teufel M....Smirnova T. (2003)
    3. A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans. (PubMed id 17205963)1, 4, 9 Freedman B.I....Bowden D.W. (2007)
    4. Association between CNDP1 genotype and diabetic nephr opathy is sex-specific. (PubMed id 20332346)1, 4, 9 Mooyaart A.L....De Heer E. (2010)
    5. The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-Americans. (PubMed id 19373489)1, 4, 9 McDonough C.W....Bowden D.W. (2009)
    6. Lower frequency of the 5/5 homozygous CNDP1 genotype in South Asian Surinamese. (PubMed id 19577318)1, 4, 9 Mooyaart A.L....de Heer E. (2009)
    7. Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease. (PubMed id 16965804)1, 4, 9 Zschocke J....Schreiber S. (2006)
    8. 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. (PubMed id 18753673)1, 4, 9 Wanic K....Krolewski A.S. (2008)
    9. Anserine inhibits carnosine degradation but in human serum carnosinase (CN1) is not correlated with histidine dipeptide concentratio n. (PubMed id 20971102)1, 4 Peters V....KAPppel H. (2011)
    10. Examination of Association with Candidate Genes for D iabetic Nephropathy in a Mexican American Population. (PubMed id 20299368)1, 4 Kim S....Adler S.G. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 84735 HGNC: 20675 AceView: CNDP1 Ensembl:ENSG00000150656 euGenes: HUgn84735
    ECgene: CNDP1 Kegg: 84735 H-InvDB: CNDP1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CNDP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CNDP1 gene:
    Search GeneIP for patents involving CNDP1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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