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CNDP1 carnosine dipeptidase 1 [ Homo sapiens (human) ]

Gene ID: 84735, updated on 19-Sep-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
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Genomic context

See CNDP1 in Genome Data Viewer
Location:
18q22.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (74534500..74587212)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (74761868..74814586)
RS_2024_09 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 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
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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)

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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_2024_08

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)