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    CNDP1 carnosine dipeptidase 1 [ Homo sapiens (human) ]

    Gene ID: 84735, updated on 5-Mar-2024

    Summary

    Official Symbol
    CNDP1provided by HGNC
    Official Full Name
    carnosine dipeptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:20675
    See related
    Ensembl:ENSG00000150656 MIM:609064; AllianceGenome:HGNC:20675
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CN1; CPGL2; HsT2308
    Summary
    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]
    Expression
    Biased expression in brain (RPKM 44.8), liver (RPKM 24.2) and 1 other tissue See more
    Orthologs
    NEW
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    Genomic context

    Location:
    18q22.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (74534500..74587212)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (74761868..74814586)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (72201735..72254448)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72112405-72112906 Neighboring gene CRISPRi-validated cis-regulatory element chr18.1476 Neighboring gene divergent protein kinase domain 1C Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13496 Neighboring gene H3K27ac hESC enhancer GRCh37_chr18:72163711-72164223 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13497 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13499 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13498 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72177239-72177740 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72177741-72178240 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr18:72208118-72208618 Neighboring gene carnosine dipeptidase 2 Neighboring gene uncharacterized LOC124904324 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13501 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 9545 Neighboring gene ZNF407 antisense RNA 1 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr18:72345358-72346557 Neighboring gene VISTA enhancer hs378 Neighboring gene zinc finger protein 407 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13502 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13503 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr18:72517901-72519100 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 13504 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:72531111-72531933 Neighboring gene VISTA enhancer hs824 Neighboring gene uncharacterized LOC124904323 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:72632804-72633403 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:72633404-72634002 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr18:72640049-72640868 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr18:72641053-72642252

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • MGC10825, MGC102737, MGC142072

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables carboxypeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables dipeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dipeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metallodipeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in proteolysis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    acts_upstream_of_or_within regulation of protein metabolic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    beta-Ala-His dipeptidase
    Names
    CNDP dipeptidase 1
    carnosinase 1
    carnosine dipeptidase 1 (metallopeptidase M20 family)
    glutamate carboxypeptidase-like protein 2
    serum carnosinase
    NP_116038.4

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_033025.2 RefSeqGene

      Range
      5002..57714
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_032649.6NP_116038.4  beta-Ala-His dipeptidase precursor

      See identical proteins and their annotated locations for NP_116038.4

      Status: REVIEWED

      Source sequence(s)
      AK098369, AY358756, BG202268, BM662490, FP565322, H41544
      Consensus CDS
      CCDS12007.1
      UniProtKB/Swiss-Prot
      Q14D40, Q17S05, Q2TBG0, Q6UWK2, Q96KN2, Q9BT98
      UniProtKB/TrEMBL
      A8K1K1
      Related
      ENSP00000351682.3, ENST00000358821.8
      Conserved Domains (2) summary
      PRK08201
      Location:34506
      PRK08201; hypothetical protein; Provisional
      cd05676
      Location:38506
      M20_dipept_like_CNDP; M20 cytosolic nonspecific dipeptidases including anserinase and serum carnosinase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

      Range
      74534500..74587212
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060942.1 Alternate T2T-CHM13v2.0

      Range
      74761868..74814586
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)