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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] See more...
Aliases for CNDP1 Gene
Aliases for CNDP1 Gene
External Ids for CNDP1 Gene
- HGNC: 20675
- NCBI Entrez Gene: 84735
- Ensembl: ENSG00000150656
- OMIM®: 609064
- UniProtKB/Swiss-Prot: Q96KN2
Previous GeneCards Identifiers for CNDP1 Gene
- GC18P070351
- GC18P070352
- GC18P072201
- GC18P068933
Summaries 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 Chronic Kidney Disease. Among its related pathways are Metabolism and beta-Alanine metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include hydrolase activity and carboxypeptidase activity. An important paralog of this gene is CNDP2.
Additional gene information for CNDP1 Gene
- HGNC (20675)
- NCBI Entrez Gene (84735)
- Ensembl (ENSG00000150656)
- OMIM® (609064)
- UniProtKB/Swiss-Prot (Q96KN2)
- Open Targets Platform(ENSG00000150656)
- Monarch Initiative
- Search for CNDP1 at DataMed
- Search for CNDP1 at HumanCyc
No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CNDP1 Gene
Genomics for CNDP1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for CNDP1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around CNDP1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CNDP1
- Top Transcription factor binding sites by QIAGEN in the CNDP1 gene promoter:
-
- AREB6
- ARP-1
- CUTL1
- FOXD3
- HNF-4alpha1
- HNF-4alpha2
- HOXA5
- LCR-F1
- STAT3
- ZID
Genomic Locations for CNDP1 Gene
Latest Assembly
- chr18:74,534,500-74,587,212
- (GRCh38/hg38)
- Size:
- 52,713 bases
- Orientation:
- Plus strand
Previous Assembly
- chr18:72,201,735-72,254,448
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 52,714 bases
- Orientation:
- Plus strand
- chr18:72,201,675-72,254,448
- (GRCh37/hg19 by Ensembl)
- Size:
- 52,774 bases
- Orientation:
- Plus strand
Genomic View for CNDP1 Gene
Genes around CNDP1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q22.3 by HGNC
- 18q22.3 by Entrez Gene
- 18q22.3 by Ensembl
CNDP1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for CNDP1 Gene
Post-translational modifications for CNDP1 Gene
Other Protein References for CNDP1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- Novus Biologicals Antibodies for CNDP1
- Invitrogen Antibodies for CNDP1 (AFLGC-CNDP1)
-
Boster Bio Antibodies for CNDP1
- Sino Biological Antibodies for CNDP1
Protein products for research
- G Biosciences Human Carnosine Dipeptidase 1/CNDP1, Liquid
- Search Origene for MassSpec and Protein Over-expression Lysates for CNDP1
- Origene Custom Protein Services for CNDP1
- Sino Biological Recombinant Proteins for CNDP1
- Sino Biological Cell Lysates for CNDP1
- ProSpec Recombinant Proteins for CNDP1
-
ProSci Proteins for CNDP1
-
Abcam proteins for CNDP1
Assay products for research
- RayBiotech Human Carnosine Dipeptidase-1/CNDP1 ELISA
-
Custom Assay ServicesOriGene ELISA Kits for CNDP1
- antibodies-online: Show 20 available CNDP1 Elisa Kits ranked by validation data
- Compare Top CNDP1 Elisa Kits
-
Quality Products:
-
Boster Bio ELISA Kits for CNDP1
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
Protein Domains for CNDP1 Gene
- InterPro:
- Blocks:
-
- ArgE/dapE/ACY1/CPG2/yscS
- Peptidase dimerisation
- ProtoNet:
Suggested Antigen Peptide Sequences for CNDP1 Gene
- GenScript: Design optimal peptide antigens:
-
- Serum carnosinase (CNDP1_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q96KN2- Family:
-
- Belongs to the peptidase M20A family.
Function for CNDP1 Gene
Molecular function for CNDP1 Gene
- UniProtKB/Swiss-Prot CatalyticActivity:
- Reaction=Preferential hydrolysis of the beta-Ala-|-His dipeptide (carnosine), and also anserine, Xaa-|-His dipeptides and other dipeptides including homocarnosine.; EC=3.4.13.20; Evidence={ECO:0000269|PubMed:12473676, ECO:0000269|PubMed:7116644};.
- 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};
- UniProtKB/Swiss-Prot EnzymeRegulation:
- Inhibited by the metal chelator 1,10-o-phenantrolin. The inhibitory concentration 50% (IC(50)) is 5 uM.
Enzyme Numbers (IUBMB) for CNDP1 Gene
Phenotypes From GWAS Catalog for CNDP1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004180 | carboxypeptidase activity | IEA | -- |
| GO:0008233 | peptidase activity | IBA | 21873635 |
| GO:0008237 | metallopeptidase activity | IEA | -- |
| GO:0016787 | hydrolase activity | IEA | -- |
| GO:0016805 | dipeptidase activity | IDA | 24891507 |
Phenotypes for CNDP1 Gene
- GenomeRNAi human phenotypes for CNDP1:
-
- Increased vaccinia virus (VACV) infection
- Decreased hepcidin::fluc mRNA expression
- Decreased viability
- no effect
- Decreased ionizing radiation sensitivity
- Decreased vaccinia virus (VACV) infection
- Resistant to vaccinia virus (VACV-A4L) infection
- Decreased viability with paclitaxel
- Strongly decreased CFP-tsO45G cell surface transport
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
Animal Models for research
-
Taconic Biosciences Mouse Models for CNDP1
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CNDP1 - Starting at $85 >
- * CNDP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CNDP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNDP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNDP1
miRNA for CNDP1 Gene
- miRTarBase miRNAs that target CNDP1
-
- hsa-miR-335-5p (MIRT018796)
- hsa-miR-5698 (MIRT669769)
- hsa-miR-653-3p (MIRT669770)
- hsa-miR-4420 (MIRT669771)
- hsa-miR-181b-3p (MIRT669772)
- hsa-miR-181b-2-3p (MIRT669773)
- hsa-miR-143-5p (MIRT669774)
- hsa-miR-4430 (MIRT669775)
- hsa-miR-3652 (MIRT669776)
- hsa-miR-3622b-5p (MIRT669777)
- hsa-miR-122-5p (MIRT669778)
- hsa-miR-504-3p (MIRT669779)
- hsa-miR-3135b (MIRT669780)
- hsa-miR-6499-3p (MIRT669781)
- hsa-miR-5693 (MIRT669782)
- hsa-miR-718 (MIRT688726)
- hsa-miR-498 (MIRT688727)
- hsa-miR-4279 (MIRT688728)
- hsa-miR-6783-3p (MIRT688729)
- hsa-miR-1343-3p (MIRT688730)
- hsa-miR-6084 (MIRT688731)
- hsa-miR-23b-5p (MIRT688732)
- hsa-miR-23a-5p (MIRT688733)
- hsa-miR-6829-3p (MIRT688734)
- hsa-miR-6791-3p (MIRT688735)
- hsa-miR-891b (MIRT688736)
- hsa-miR-4772-3p (MIRT688737)
- hsa-miR-1976 (MIRT688738)
- hsa-miR-3653-5p (MIRT688739)
- hsa-miR-1281 (MIRT688740)
- hsa-miR-6742-3p (MIRT688741)
- hsa-miR-6852-5p (MIRT688742)
- hsa-miR-939-3p (MIRT688743)
- hsa-miR-6747-3p (MIRT688744)
- hsa-miR-6727-3p (MIRT688745)
- hsa-miR-4722-3p (MIRT688746)
- hsa-miR-660-3p (MIRT688747)
- hsa-miR-4485-5p (MIRT688748)
- hsa-miR-1270 (MIRT783274)
- hsa-miR-129-5p (MIRT783468)
- hsa-miR-1304-3p (MIRT783671)
- hsa-miR-139-3p (MIRT783776)
- hsa-miR-3664-5p (MIRT785074)
- hsa-miR-4294 (MIRT785607)
- hsa-miR-4531 (MIRT786176)
- hsa-miR-4639-3p (MIRT786251)
- hsa-miR-620 (MIRT788121)
- hsa-miR-6794-3p (MIRT788763)
- hsa-miR-7850-5p (MIRT789567)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNDP1
- Browse OriGene Inhibitory RNA Products For CNDP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNDP1
Clone products for research
- Applied Biological Materials (abm): Clones for CNDP1 - Starting at $45 >
- * CNDP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CNDP1
- Addgene plasmids for CNDP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNDP1
Cell Lines for research
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| cytosol | 5 |
| endoplasmic reticulum | 2 |
| plasma membrane | 1 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| lysosome | 1 |
| peroxisome | 0 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | IEA | -- |
| GO:0005829 | cytosol | IDA | 24891507 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for CNDP1 Gene
Pathways & Interactions for CNDP1 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Arginine and proline metabolism | ||
| 2 | beta-Alanine metabolism (KEGG) | ||
| 3 | Histidine metabolism | ||
| 4 | Metabolism | ||
| 5 | Beta-alanine metabolism (TR) |
Beta-alanine metabolism
.30
|
|
Pathways by source for CNDP1 Gene
4 KEGG pathways for CNDP1 Gene
1 GeneGo (Thomson Reuters) pathway for CNDP1 Gene
- Beta-alanine metabolism
Interacting Proteins for CNDP1 Gene
GPS-Prot Interaction Network for CNDP1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006508 | proteolysis | IEA,IDA | 24891507 |
| GO:0032268 | regulation of cellular protein metabolic process | IDA | 24891507 |
No data available for SIGNOR curated interactions for CNDP1 Gene
Drugs & Compounds for CNDP1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| Water | Approved | Pharma | 0 | |||
| Citric acid | Approved, Vet_approved | Nutra | 1584 | |||
| 1-Methylhistidine | Experimental | Pharma | 0 | |||
| beta-Alanine | Experimental | Pharma | Endogenous glycine agonist, more selective than taurine (Cat. No. 0209) | 0 | ||
| Cadmium | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 3-Methylhistidine |
|
368-16-1 |
|
|||
| anserine |
|
584-85-0 |
|
|||
| homocarnosine |
|
3650-73-5 |
|
Drug products for research
- G Biosciences Human Carnosine Dipeptidase 1/CNDP1, Liquid
Transcripts for CNDP1 Gene
mRNA/cDNA for CNDP1 Gene
- 1 REFSEQ mRNAs :
- 16 NCBI additional mRNA sequence :
- 7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000358821 4342 nts (view in UCSC)
- ENST00000578498 485 nts (view in UCSC)
- ENST00000582365 4111 nts (view in UCSC)
- ENST00000582461 3641 nts (view in UCSC)
- ENST00000584004 1511 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for CNDP1 - Starting at $85 >
- * CNDP1 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for CNDP1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CNDP1
-
Santa Cruz Biotechnology (SCBT) CRISPR for CNDP1
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for CNDP1
- Browse OriGene Inhibitory RNA Products For CNDP1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CNDP1
Clone products for research
- Applied Biological Materials (abm): Clones for CNDP1 - Starting at $45 >
- * CNDP1 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for CNDP1
- Addgene plasmids for CNDP1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CNDP1
| 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
Expression 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).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CNDP1
SOURCE GeneReport for Unigene cluster for CNDP1 Gene:
Hs.400613mRNA 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)
- Skin(4.2)
- Bone marrow(4)
- Liver(2.4)
- Blood(2.2)
Primer products for research
-
OriGene qPCR primer pairs for CNDP1
-
OriGene qPCR primer pairs and template standards for CNDP1
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | CNDP1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | CNDP1 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Cndp1 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | Cndp1 30 17 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | CNDP1 30 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | CNDP1 31 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | CNDP1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | CNDP1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | CNDP1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | cndp1 30 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | MGC68563 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | CNDP1 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | CG17337 31 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | pes-9 31 |
|
ManyToMany | |
| Y71H2AM.11 31 |
|
ManyToMany | |||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | DUG1 31 |
|
OneToMany | |
| DUG2 33 |
|
|
- Species where no ortholog for CNDP1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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
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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CNDP1 Gene
| SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs111779843 | Benign: not provided | 74,583,647(+) |
G/T NM_032649.6(CNDP1):c.1396G>T (p.Val466Leu) |
MISSENSE | |
| rs140836083 | Benign: not provided | 74,567,390(+) |
C/T NM_032649.6(CNDP1):c.713C>T (p.Ala238Val) |
MISSENSE | |
| rs142187241 | Benign: not provided | 74,578,223(+) |
G/A NM_032649.6(CNDP1):c.1063G>A (p.Ala355Thr) |
MISSENSE | |
| rs145240287 | Benign: not provided | 74,580,262(+) |
A/G NM_032649.6(CNDP1):c.1300A>G (p.Ile434Val) |
MISSENSE | |
| rs201503578 | Benign: not provided | 74,571,177(+) |
ACT/A NM_032649.6(CNDP1):c.757-6_757-5del |
INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
Disorders for CNDP1 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| homocarnosinosis |
|
|
| chronic kidney disease |
|
|
| gamma-amino butyric acid metabolism disorder |
|
|
| hypotrichosis 4 |
|
|
| kidney disease |
|
|
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
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for CNDP1 Gene
Publications for CNDP1 Gene
- 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 23 41
- Association between CNDP1 genotype and diabetic nephropathy is sex specific. (PMID: 20332346) Mooyaart AL … De Heer E (Diabetes 2010) 3 23 41
- The influence of carnosinase gene polymorphisms on diabetic nephropathy risk in African-Americans. (PMID: 19373489) McDonough CW … Bowden DW (Human genetics 2009) 3 23 41
- 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 23 41
- 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 23 41
ExternalLinks
Products for CNDP1 Gene
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