Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84735
Gene name	Carnosine dipeptidase 1
Gene symbol	CNDP1
Synonyms (NCBI Gene)	CN1CPGL2HsT2308
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

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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

Show/Hide all (16)

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

MIM	HGNC	e!Ensembl
609064	20675	ENSG00000150656

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

Interactions

View interactions

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

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Clear cell carcinoma of kidney	Benign	rs145240287	RCV005903841
CNDP1-related disorder	Likely benign	rs532358622	RCV003909325
Gastric cancer	Benign	rs145240287	RCV005903842
Thyroid cancer, nonmedullary, 1	Benign	rs145240287	RCV005903843

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Albuminuria	Associate	31950064
Alcohol fetopathy	Associate	32326243
Autism Spectrum Disorder	Associate	37407249
Breast Neoplasms	Inhibit	39195217
Diabetes Gestational	Associate	32111749
Diabetes Gestational	Stimulate	32326243
Diabetes Mellitus	Associate	26389600, 28553654, 31950064
Diabetes Mellitus Type 1	Associate	20711718
Diabetes Mellitus Type 2	Associate	23342076, 28553654
Diabetes Mellitus Type 2	Stimulate	32326243
Diabetic Nephropathies	Associate	19373489, 20299368, 20332346, 20711718, 21393041, 22496410, 23342076, 26206726, 27834323, 28553654, 32733966, 33811534, 34946941
Fabry Disease	Associate	25619383
Glioma	Associate	23029420
Hypotension	Associate	28553654
Kidney Diseases	Associate	20711718, 24551085
Kidney Diseases	Inhibit	26389600
Kidney Failure Chronic	Associate	19373489, 20711718
Macular Degeneration	Associate	32974084
Myotonic Dystrophy	Associate	19373489
Neoplasms	Associate	21898641
Proteinuria	Associate	23342076
Renal Insufficiency Chronic	Associate	31950064
Reticular dysgenesis	Inhibit	32974084
Ventricular Dysfunction Left	Associate	40141250

CNDP1 (carnosine dipeptidase 1)