CNDP1 (carnosine dipeptidase 1)

Gene

• Entrez ID: 84735
• Gene name: Carnosine dipeptidase 1
• Gene symbol: CNDP1
• Synonyms (NCBI Gene): CN1, CPGL2, HsT2308
• Chromosome: 18
• Chromosome location: 18q22.3
• 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 polymorp

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018796	hsa-miR-335-5p	Microarray	18185580
MIRT688748	hsa-miR-4485-5p	HITS-CLIP	23313552
MIRT688747	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT688746	hsa-miR-4722-3p	HITS-CLIP	23313552
MIRT688745	hsa-miR-6727-3p	HITS-CLIP	23313552
MIRT688744	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT688743	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT688742	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT688741	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT688740	hsa-miR-1281	HITS-CLIP	23313552
MIRT688739	hsa-miR-3653-5p	HITS-CLIP	23313552
MIRT688738	hsa-miR-1976	HITS-CLIP	23313552
MIRT688737	hsa-miR-4772-3p	HITS-CLIP	23313552
MIRT688736	hsa-miR-891b	HITS-CLIP	23313552
MIRT688735	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT688734	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT688733	hsa-miR-23a-5p	HITS-CLIP	23313552
MIRT688732	hsa-miR-23b-5p	HITS-CLIP	23313552
MIRT688731	hsa-miR-6084	HITS-CLIP	23313552
MIRT688730	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT688729	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT688728	hsa-miR-4279	HITS-CLIP	23313552
MIRT688727	hsa-miR-498	HITS-CLIP	23313552
MIRT688726	hsa-miR-718	HITS-CLIP	23313552
MIRT669782	hsa-miR-5693	HITS-CLIP	23824327
MIRT669781	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT669780	hsa-miR-3135b	HITS-CLIP	23824327
MIRT669779	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT669778	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT669777	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT669776	hsa-miR-3652	HITS-CLIP	23824327
MIRT669775	hsa-miR-4430	HITS-CLIP	23824327
MIRT669774	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT669769	hsa-miR-5698	HITS-CLIP	23824327
MIRT669782	hsa-miR-5693	HITS-CLIP	23824327
MIRT669781	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT669780	hsa-miR-3135b	HITS-CLIP	23824327
MIRT669779	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT669778	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT669777	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT669776	hsa-miR-3652	HITS-CLIP	23824327
MIRT669775	hsa-miR-4430	HITS-CLIP	23824327
MIRT669774	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT669773	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT669772	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT669771	hsa-miR-4420	HITS-CLIP	23824327
MIRT669770	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT669769	hsa-miR-5698	HITS-CLIP	23824327
MIRT688748	hsa-miR-4485-5p	HITS-CLIP	23313552
MIRT688747	hsa-miR-660-3p	HITS-CLIP	23313552
MIRT688746	hsa-miR-4722-3p	HITS-CLIP	23313552
MIRT688745	hsa-miR-6727-3p	HITS-CLIP	23313552
MIRT688744	hsa-miR-6747-3p	HITS-CLIP	23313552
MIRT688743	hsa-miR-939-3p	HITS-CLIP	23313552
MIRT688742	hsa-miR-6852-5p	HITS-CLIP	23313552
MIRT688741	hsa-miR-6742-3p	HITS-CLIP	23313552
MIRT688740	hsa-miR-1281	HITS-CLIP	23313552
MIRT688739	hsa-miR-3653-5p	HITS-CLIP	23313552
MIRT688738	hsa-miR-1976	HITS-CLIP	23313552
MIRT688737	hsa-miR-4772-3p	HITS-CLIP	23313552
MIRT688736	hsa-miR-891b	HITS-CLIP	23313552
MIRT688735	hsa-miR-6791-3p	HITS-CLIP	23313552
MIRT688734	hsa-miR-6829-3p	HITS-CLIP	23313552
MIRT688733	hsa-miR-23a-5p	HITS-CLIP	23313552
MIRT688732	hsa-miR-23b-5p	HITS-CLIP	23313552
MIRT688731	hsa-miR-6084	HITS-CLIP	23313552
MIRT688730	hsa-miR-1343-3p	HITS-CLIP	23313552
MIRT688729	hsa-miR-6783-3p	HITS-CLIP	23313552
MIRT688728	hsa-miR-4279	HITS-CLIP	23313552
MIRT688727	hsa-miR-498	HITS-CLIP	23313552
MIRT688726	hsa-miR-718	HITS-CLIP	23313552
MIRT669782	hsa-miR-5693	HITS-CLIP	23824327
MIRT669781	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT669780	hsa-miR-3135b	HITS-CLIP	23824327
MIRT669779	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT669778	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT669777	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT669776	hsa-miR-3652	HITS-CLIP	23824327
MIRT669775	hsa-miR-4430	HITS-CLIP	23824327
MIRT669774	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT669769	hsa-miR-5698	HITS-CLIP	23824327
MIRT669782	hsa-miR-5693	HITS-CLIP	23824327
MIRT669781	hsa-miR-6499-3p	HITS-CLIP	23824327
MIRT669780	hsa-miR-3135b	HITS-CLIP	23824327
MIRT669779	hsa-miR-504-3p	HITS-CLIP	23824327
MIRT669778	hsa-miR-122-5p	HITS-CLIP	23824327
MIRT669777	hsa-miR-3622b-5p	HITS-CLIP	23824327
MIRT669776	hsa-miR-3652	HITS-CLIP	23824327
MIRT669775	hsa-miR-4430	HITS-CLIP	23824327
MIRT669774	hsa-miR-143-5p	HITS-CLIP	23824327
MIRT669773	hsa-miR-181b-2-3p	HITS-CLIP	23824327
MIRT669772	hsa-miR-181b-3p	HITS-CLIP	23824327
MIRT669771	hsa-miR-4420	HITS-CLIP	23824327
MIRT669770	hsa-miR-653-3p	HITS-CLIP	23824327
MIRT669769	hsa-miR-5698	HITS-CLIP	23824327
MIRT899363	hsa-miR-1343	CLIP-seq
MIRT899364	hsa-miR-25	CLIP-seq
MIRT899365	hsa-miR-32	CLIP-seq
MIRT899366	hsa-miR-363	CLIP-seq
MIRT899367	hsa-miR-367	CLIP-seq
MIRT899368	hsa-miR-4283	CLIP-seq
MIRT899369	hsa-miR-4489	CLIP-seq
MIRT899370	hsa-miR-4700-3p	CLIP-seq
MIRT899371	hsa-miR-92a	CLIP-seq
MIRT899372	hsa-miR-92b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004180	Function	Carboxypeptidase activity	IEA
GO:0005515	Function	Protein binding	IPI	33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	24891507
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IDA	24891507
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016805	Function	Dipeptidase activity	IBA
GO:0016805	Function	Dipeptidase activity	IDA	24891507
GO:0046872	Function	Metal ion binding	IEA
GO:0051246	Process	Regulation of protein metabolic process	IDA	24891507
GO:0070573	Function	Metallodipeptidase activity	IEA

Other IDs

• MIM: 609064
• HGNC: 20675
• e!Ensembl: ENSG00000150656

Protein

• UniProt ID: Q96KN2
• Protein name: Beta-Ala-His dipeptidase (EC 3.4.13.20) (CNDP dipeptidase 1) (Carnosine dipeptidase 1) (Glutamate carboxypeptidase-like protein 2) (Serum carnosinase)
• Protein function: Catalyzes the peptide bond hydrolysis in Xaa-His dipeptides, displaying the highest activity toward carnosine (beta-alanyl-L-histidine) and anserine (beta-alanyl-3-methyl-histidine).
• PDB: 3DLJ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01546	Peptidase_M20	128 → 502	Peptidase family M20/M25/M40	Family
  PF07687	M20_dimer	241 → 402	Peptidase dimerisation domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Found in serum and adult nervous central system. Absent in serum from patients with homocarnosinosis. {ECO:0000269|PubMed:12473676, ECO:0000269|PubMed:6616870}.
• Sequence:

  MDPKLGRMAASLLAVLLLLLERGMFSSPSPPPALLEKVFQYIDLHQDEFVQTLKEWVAIE
  SDSVQPVPRFRQELFRMMAVAADTLQRLGARVASVDMGPQQLPDGQSLPIPPIILAELGS
  DPTKGTVCFYGHLDVQPADRGDGWLTDPYVLTEVDGKLYGRGATDNKGPVLAWINAVSAF
  RALEQDLPVNIKFIIEGMEEAGSVALEELVEKEKDRFFSGVDYIVISDNLWISQRKPAIT
  YGTRGNSYFMVEVKCRDQDFHSGTFGGILHEPMADLVALLGSLVDSSGHILVPGIYDEVV
  PLTEEEINTYKAIHLDLEEYRNSSRVEKFLFDTKEEILMHLWRYPSLSIHGIEGAFDEPG
  TKTVIPGRVIGKFSIRLVPHMNVSAVEKQVTRHLEDVFSKRNSSNKMVVSMTLGLHPWIA
  NIDDTQYLAAKRAIRTVFGTEPDMIRDGSTIPIAKMFQEIVHKSVVLIPLGAVDDGEHSQ
  NEKINRWNYIEGTKLFAAFFLEMAQLH

• Sequence length: 507

Pathways

KEGG:

Arginine and proline metabolism
Histidine metabolism
beta-Alanine metabolism
Metabolic pathways

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNOSINASE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARNOSINEMIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CNDP1-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHIES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETIC NEPHROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLOMERULONEPHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DISABILITY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autism Spectrum Disorder	Autism	Pubtator	37407249	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39195217	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	20979941		★☆☆☆☆ Found in Text Mining only
Carnosinemia	Carnosinemia	BEFREE	29027595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carnosinemia	Carnosinemia	CTD_human_DG	4172777		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic kidney disease stage 5	Kidney Disease	BEFREE	17205963, 20711718, 23342076, 26799971		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	20851293, 27278783, 29027595		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	16965804		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	16965804		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	16965804		★☆☆☆☆ Found in Text Mining only
Cyclic neutropenia	Cyclic Neutropenia	BEFREE	22710376		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	26081982, 28553654, 28776438, 29961141		★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32111749	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	32326243	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17205963, 26081982, 28553654, 28776438, 29961141		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	26389600, 28553654, 31950064	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	20711718	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23342076, 28553654	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32326243	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	18753673, 20711718		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20332346, 20711718, 21127830, 21573905, 23342076, 24756973, 28776438, 29027595, 29961141, 30610469		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	19373489, 20299368, 20332346, 20711718, 21393041, 22496410, 23342076, 26206726, 27834323, 28553654, 32733966, 33811534, 34946941	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	16046297, 17205963, 17418689, 17601991, 17942768, 18753673, 19373489, 19577318, 20299368, 20332346, 20711718, 21393041, 21573905, 21833769, 22496410, 23342076, 23402577, 24756973, 26081982, 27278783, 27834323, 28776438, 29922921, 29961141, 30610469, 30914013, 31073745		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	17205963, 17601991, 17601992, 18753673		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathy	Diabetic Nephropathy	CTD_human_DG	17942768, 21393041, 21573905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fabry Disease	Fabry disease	Pubtator	25619383	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	23029420		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	23029420	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	BEFREE	29027595		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Homocarnosinase deficiency	Homocarnosinase Deficiency	CTD_human_DG	4172777		★☆☆☆☆ Found in Text Mining only
Homocarnosinosis	Homocarnosinosis	CTD_human_DG	4172777		★☆☆☆☆ Found in Text Mining only
Hyperbilirubinemia	Hyperbilirubinemia	BEFREE	9639672		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	20460427		★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	28553654	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	CTD_human_DG	4673339, 4718759		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	16046297, 17205963, 20711718, 21573905, 23342076, 27278783, 27834323, 28281693, 30610469		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	20711718, 24551085	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	26389600	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	17205963, 26799971, 27278783		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	19373489, 20711718	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	17205963, 20711718, 23342076, 26799971		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	32974084	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	23029420, 24566305		★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	4673339, 4718759		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	19373489	Associate	★☆☆☆☆ Found in Text Mining only
Nephritis, Interstitial	Nephritis	BEFREE	20851293		★☆☆☆☆ Found in Text Mining only
Nephritis, Tubulointerstitial	Nephritis	BEFREE	20851293		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	24566305		★☆☆☆☆ Found in Text Mining only
Nodular glomerulosclerosis	Glomerulosclerosis	CTD_human_DG	17942768, 21393041, 21573905		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29402779		★☆☆☆☆ Found in Text Mining only
PARKINSON DISEASE, LATE-ONSET	Parkinson disease	BEFREE	20979941		★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	4673339, 4718759		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	23342076	Associate	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	20851293		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	40141250	Associate	★☆☆☆☆ Found in Text Mining only