Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CNDP1 Gene

Aliases for CNDP1 Gene

  • Carnosine Dipeptidase 1 2 3 4 5
  • Glutamate Carboxypeptidase-Like Protein 2 2 3 4
  • Carnosine Dipeptidase 1 (Metallopeptidase M20 Family) 2 3
  • Beta-Ala-His Dipeptidase 2 3
  • CNDP Dipeptidase 1 3 4
  • Serum Carnosinase 3 4
  • Carnosinase 1 2 3
  • CPGL2 3 4
  • CN1 3 4
  • EC 3.4.13.20 4
  • HsT2308 3

External Ids for CNDP1 Gene

Previous GeneCards Identifiers for CNDP1 Gene

  • GC18P070351
  • GC18P070352
  • GC18P072201
  • GC18P068933

Summaries for CNDP1 Gene

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) is a Protein Coding gene. Diseases associated with CNDP1 include Homocarnosinosis and Gamma-Amino Butyric Acid Metabolism Disorder. Among its related pathways are Arginine and proline metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity and carboxypeptidase activity. An important paralog of this gene is CNDP2.

Gene Wiki entry for CNDP1 Gene

Additional gene information for CNDP1 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CNDP1 Gene

Genomics for CNDP1 Gene

GeneHancer (GH) Regulatory Elements for CNDP1 Gene

Promoters and enhancers for CNDP1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH18J074535 Promoter/Enhancer 0.8 EPDnew dbSUPER 650.7 +0.0 41 0.1 MITF CNDP1 ENSG00000264340
GH18J074534 Promoter/Enhancer 0.8 EPDnew dbSUPER 650.7 +0.1 143 0.1 MITF CNDP1 ENSG00000264340
GH18J074495 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.9 -35.4 -35429 7.2 HDGF FOXA2 PKNOX1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B CNDP2 CNDP1 ZNF407 ENSG00000276934
GH18J074540 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 11.4 +8.0 7998 4 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 ATF7 FOS CNDP1 FAM69C ENSG00000264340
GH18J074505 Enhancer 0.8 ENCODE dbSUPER 12.5 -26.6 -26596 4.4 SOX6 TAL1 MAFG CBFA2T3 TCF12 MAFF ZNF316 CBFA2T2 MAFK EMSY GC18P074507 CNDP2 CNDP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CNDP1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CNDP1 gene promoter:

Genomic Locations for CNDP1 Gene

Genomic Locations for CNDP1 Gene
chr18:74,534,440-74,587,212
(GRCh38/hg38)
Size:
52,773 bases
Orientation:
Plus strand
chr18:72,201,675-72,254,448
(GRCh37/hg19)

Genomic View for CNDP1 Gene

Genes around CNDP1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CNDP1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CNDP1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CNDP1 Gene

Proteins for CNDP1 Gene

  • Protein details for CNDP1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96KN2-CNDP1_HUMAN
    Recommended name:
    Beta-Ala-His dipeptidase
    Protein Accession:
    Q96KN2
    Secondary Accessions:
    • Q14D40
    • Q17S05
    • Q2TBG0
    • Q6UWK2
    • Q9BT98

    Protein attributes for CNDP1 Gene

    Size:
    507 amino acids
    Molecular mass:
    56706 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for CNDP1 Gene

neXtProt entry for CNDP1 Gene

Post-translational modifications for CNDP1 Gene

  • Glycosylation at posLast=382382 and posLast=322322
  • Modification sites at PhosphoSitePlus

Other Protein References for CNDP1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CNDP1 Gene

Domains & Families for CNDP1 Gene

Gene Families for CNDP1 Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for CNDP1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96KN2

UniProtKB/Swiss-Prot:

CNDP1_HUMAN :
  • Belongs to the peptidase M20A family.
Family:
  • Belongs to the peptidase M20A family.
genes like me logo Genes that share domains with CNDP1: view

Function for CNDP1 Gene

Molecular function for CNDP1 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Preferential hydrolysis of the beta-Ala- -His dipeptide (carnosine), and also anserine, Xaa- -His dipeptides and other dipeptides including homocarnosine.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by the metal chelator 1,10-o-phenantrolin. The inhibitory concentration 50% (IC(50)) is 5 uM.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.27 uM for carnosine (at 30 degrees Celsius and in the absence of cadmium ions) {ECO:0000269 PubMed:12473676}; KM=11.00 uM for carnosine (at 30 degrees Celsius and in the presence of 200 uM cadmium ions) {ECO:0000269 PubMed:12473676}; KM=0.20 uM for homocarnosine (at 30 degrees Celsius and in the absence of cadmium ions) {ECO:0000269 PubMed:12473676}; KM=1.0 uM for homocarnosine (at 30 degrees Celsius and in the presence of 200 uM cadmium ions) {ECO:0000269 PubMed:12473676}; Note=1 hour incubation in 50 mM Tris-HCl, pH 7.5.; pH dependence: Optimum pH is 8.5. {ECO:0000269 PubMed:12473676};

Enzyme Numbers (IUBMB) for CNDP1 Gene

Phenotypes From GWAS Catalog for CNDP1 Gene

Gene Ontology (GO) - Molecular Function for CNDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004180 carboxypeptidase activity IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0016805 dipeptidase activity IEA,IDA 24891507
genes like me logo Genes that share ontologies with CNDP1: view
genes like me logo Genes that share phenotypes with CNDP1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNDP1

Clone Products

  • Addgene plasmids for CNDP1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CNDP1 Gene

Localization for CNDP1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CNDP1 Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CNDP1 gene
Compartment Confidence
extracellular 5
cytosol 5
endoplasmic reticulum 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CNDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005829 cytosol IDA 24891507
genes like me logo Genes that share ontologies with CNDP1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNDP1 Gene

Pathways & Interactions for CNDP1 Gene

genes like me logo Genes that share pathways with CNDP1: view

Pathways by source for CNDP1 Gene

1 GeneGo (Thomson Reuters) pathway for CNDP1 Gene

Gene Ontology (GO) - Biological Process for CNDP1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IDA,IEA 24891507
GO:0008152 metabolic process IEA --
GO:0032268 regulation of cellular protein metabolic process IDA 24891507
genes like me logo Genes that share ontologies with CNDP1: view

No data available for SIGNOR curated interactions for CNDP1 Gene

Drugs & Compounds for CNDP1 Gene

(5) Drugs for CNDP1 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Citric Acid Approved, Vet_approved Nutra Agonist, Activator 1243
Histidine Approved Nutra 50
beta-Alanine Experimental Pharma Full agonist, Agonist Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) 0
Carnosine Investigational Pharma 0

(5) Additional Compounds for CNDP1 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Methylhistidine
  • (2S)-2-amino-3-(1-Methyl-1H-imidazol-4-yl)propanoic acid
  • 1-Methylhistidine
  • Pi-methylhistidine
  • (2S)-2-amino-3-(1-Methyl-1H-imidazol-4-yl)propanoate
  • 1 Methylhistidine
332-80-9
3-Methylhistidine
  • (2S)-2-amino-3-(1-Methyl-1H-imidazol-5-yl)propanoic acid
  • 3-Methyl-L-histidine
  • N(Pai)-methyl-L-histidine
  • N-pros-Methyl-L-histidine
  • Tau-methylhistidine
368-16-1
anserine
  • beta-Alanyl-3-methyl-L-histidine
  • beta-Alanyl-N(pai)-methyl-L-histidine
  • b-Alanyl-3-methyl-L-histidine
  • β-alanyl-3-methyl-L-histidine
  • b-Alanyl-N(pai)-methyl-L-histidine
584-85-0
cadmium
  • CADMIUM ion
  • Cadmium, ion (CD2+)
  • CD(2+)
  • CD2+
  • Cadmium atom
7440-43-9
homocarnosine
  • (2S)-Homocarnosine
  • (S)-Homocarnosine
  • gamma-Aminobutyryl-L-his
  • N-(4-Aminobutanoyl)-(S)-histidine
  • N-(4-Aminobutyryl)-L-histidine
3650-73-5
genes like me logo Genes that share compounds with CNDP1: view

Transcripts for CNDP1 Gene

mRNA/cDNA for CNDP1 Gene

Unigene Clusters for CNDP1 Gene

Carnosine dipeptidase 1 (metallopeptidase M20 family):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNDP1

Clone Products

  • Addgene plasmids for CNDP1

Alternative Splicing Database (ASD) splice patterns (SP) for CNDP1 Gene

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: -
SP6:

Relevant External Links for CNDP1 Gene

GeneLoc Exon Structure for
CNDP1
ECgene alternative splicing isoforms for
CNDP1

Expression for CNDP1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CNDP1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CNDP1 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x11.3), Brain - Substantia nigra (x8.8), Brain - Putamen (basal ganglia) (x5.3), Brain - Hippocampus (x5.1), and Brain - Hypothalamus (x4.3).

Protein differential expression in normal tissues from HIPED for CNDP1 Gene

This gene is overexpressed in Cerebrospinal fluid (25.4), Serum (21.2), Plasma (9.8), and Vitreous humor (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CNDP1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CNDP1 Gene:

CNDP1

SOURCE GeneReport for Unigene cluster for CNDP1 Gene:

Hs.400613

mRNA Expression by UniProt/SwissProt for CNDP1 Gene:

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

Evidence on tissue expression from TISSUES for CNDP1 Gene

  • Nervous system(4.9)
  • Bone marrow(4)
  • Skin(4)
genes like me logo Genes that share expression patterns with CNDP1: view

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for CNDP1 Gene

Orthologs for CNDP1 Gene

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

Orthologs for CNDP1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CNDP1 34 33
  • 98.69 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CNDP1 34 33
  • 84.52 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cndp1 33
  • 81.28 (n)
mouse
(Mus musculus)
Mammalia Cndp1 16 34 33
  • 80.77 (n)
cow
(Bos Taurus)
Mammalia CNDP1 34 33
  • 80.54 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CNDP1 34
  • 74 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CNDP1 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves CNDP1 34 33
  • 67.57 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CNDP1 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cndp1 33
  • 64.18 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC68563 33
zebrafish
(Danio rerio)
Actinopterygii CNDP1 34
  • 50 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG17337 34
  • 49 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea pes-9 34
  • 47 (a)
ManyToMany
Y71H2AM.11 34
  • 45 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DUG1 34
  • 44 (a)
OneToMany
DUG2 36
Species where no ortholog for CNDP1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CNDP1 Gene

ENSEMBL:
Gene Tree for CNDP1 (if available)
TreeFam:
Gene Tree for CNDP1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CNDP1: view image

Paralogs for CNDP1 Gene

Paralogs for CNDP1 Gene

(2) SIMAP similar genes for CNDP1 Gene using alignment to 3 proteins:

  • CNDP1_HUMAN
  • J3KRP0_HUMAN
  • J3QQM7_HUMAN
genes like me logo Genes that share paralogs with CNDP1: view

Variants for CNDP1 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CNDP1 Gene

CNDP1_HUMAN-Q96KN2
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.

Sequence variations from dbSNP and Humsavar for CNDP1 Gene

SNP ID Clin Chr 18 pos Variation AA Info Type
rs1000045621 -- 74,572,824(+) G/A intron_variant
rs1000082871 -- 74,585,500(+) C/T downstream_transcript_variant
rs1000110430 -- 74,534,369(+) G/A upstream_transcript_variant
rs1000178913 -- 74,534,186(+) C/T upstream_transcript_variant
rs1000249759 -- 74,571,860(+) T/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CNDP1 Gene

Variant ID Type Subtype PubMed ID
esv3643117 CNV loss 21293372
esv3643118 CNV gain 21293372
esv3643121 CNV gain 21293372
nsv1057441 CNV gain 25217958
nsv473018 CNV novel sequence insertion 20440878
nsv577656 CNV gain 21841781

Variation tolerance for CNDP1 Gene

Residual Variation Intolerance Score: 61.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.72; 78.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CNDP1 Gene

Human Gene Mutation Database (HGMD)
CNDP1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CNDP1

SNP Genotyping and Copy Number Assay Products

Disorders for CNDP1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CNDP1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
homocarnosinosis
  • homocarnosinase deficiency
gamma-amino butyric acid metabolism disorder
microvascular complications of diabetes 3
  • end-stage renal disease, diabetic
chronic kidney failure
  • chronic kidney disease
- elite association - COSMIC cancer census association via MalaCards
Search CNDP1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CNDP1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CNDP1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CNDP1 Gene

Publications for CNDP1 Gene

  1. Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1. (PMID: 16046297) Janssen B … van der Woude FJ (Diabetes 2005) 3 4 22 44 58
  2. Association between CNDP1 genotype and diabetic nephropathy is sex specific. (PMID: 20332346) Mooyaart AL … De Heer E (Diabetes 2010) 3 22 44 58
  3. The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-Americans. (PMID: 19373489) McDonough CW … Bowden DW (Human genetics 2009) 3 22 44 58
  4. Lower frequency of the 5/5 homozygous CNDP1 genotype in South Asian Surinamese. (PMID: 19577318) Mooyaart AL … de Heer E (Diabetes research and clinical practice 2009) 3 22 44 58
  5. 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. (PMID: 18753673) Wanic K … Krolewski AS (Diabetes 2008) 3 22 44 58

Products for CNDP1 Gene

Sources for CNDP1 Gene

Content
Loading form....