CNDP1 carnosine dipeptidase 1 [Homo sapiens (human)] - Gene

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: mouse all
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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_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Exploring the structural and dynamic differences between human carnosinase I (CN1) and II (CN2).
Title: Exploring the structural and dynamic differences between human carnosinase I (CN1) and II (CN2).
Correlation between serum carnosinase concentration and renal damage in diabetic nephropathy patients.
Title: Correlation between serum carnosinase concentration and renal damage in diabetic nephropathy patients.
Human carnosinase 1 overexpression aggravates diabetes and renal impairment in BTBR(Ob/Ob) mice.
Title: Human carnosinase 1 overexpression aggravates diabetes and renal impairment in BTBR(Ob/Ob) mice.
Genotype Distribution of CNDP1 Polymorphisms in the Healthy Chinese Han Population: Association with HbA1c and Fasting Blood Glucose.
Title: Genotype Distribution of CNDP1 Polymorphisms in the Healthy Chinese Han Population: Association with HbA1c and Fasting Blood Glucose.
2 SNPs (rs7244647 in CNDP1 and rs4891558 in CNDP2) were associated with obesity risk. In addition, these associations were observed only in the group with high carbohydrate and low carotene intake but not in the group with low carbohydrate and high carotene intake.
Title: The Combined Effects of Genetic Variation in the CNDP1 and CNDP2 Genes and Dietary Carbohydrate and Carotene Intake on Obesity Risk.
Lower serum CNDP1 concentrations correlated with impaired renal function and to a lesser extend with the CNDP1 genotype in patients with type 2 diabetes.
Title: Carnosinase concentration, activity, and CNDP1 genotype in patients with type 2 diabetes with and without nephropathy.
The CNDP2 rs6566810 (A/A genotype) is overrepresented in endurance athletes, but only in international-level endurance athletes. Three SNPs (CNDP2 rs3764509, CNDP2-CNDP1 rs2346061, and CNDP1 rs2887) were overrepresented in power athletes compared with nonathletes.
Title: Single Nucleotide Polymorphisms in Carnosinase Genes (CNDP1 and CNDP2) are Associated With Power Athletic Status.
The distribution of the (CTG)5 homozygous genotype in the no-diabetic nephropathy (DN) and clinical-DN patients was comparable, a lower frequency was found in the biopsy proven-DN patients, particularly in females. We observed a significant trend towards high frequencies of the (CTG)5 homozygous genotype with increased time on dialysis.
Title: The CNDP1 (CTG)(5) Polymorphism Is Associated with Biopsy-Proven Diabetic Nephropathy, Time on Hemodialysis, and Diabetes Duration.
Compared to healthy individuals and those with diabetes but no kidney disease, patients with diabetic nephropathy exhibited lower frequencies of 5L-5L genotype and 5L allele of CNDP1 gene, suggesting that this allele might confer protection against development of kidney disease in this population.
Title: Association of CTG repeat polymorphism in carnosine dipeptidase 1 (CNDP1) gene with diabetic nephropathy in north Indians.
Considering that approximately 40 per cent of the population are homozygous for the 5L allele of (CTG) n repeat polymorphism in CNDP1 gene and seem to be less prone to develop DN, it is needed to evaluate whether the majority of diabetic patients (who do not have the 5L-5L genotype) would be benefited from supplementation with carnosine or with a more intensive monitoring
Title: The (CTG)(n) repeat polymorphism in CNDP1 gene: New insights into an old molecule.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D18S880 (e-PCR)
- UniSTS:14895

WI-15225 (e-PCR)
- UniSTS:14402

D18S1161 (e-PCR), detects polymorphism
- UniSTS:57215

NoName (e-PCR)
- UniSTS:486370

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

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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

EC 3.4.13.20

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

NG_033025.2 RefSeqGene

Range

5002..57714

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_032649.6 → NP_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:34 → 506

PRK08201; hypothetical protein; Provisional

cd05676
Location:38 → 506

M20_dipept_like_CNDP; M20 cytosolic nonspecific dipeptidases including anserinase and serum carnosinase