Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84735
Gene name Gene Name - the full gene name approved by the HGNC.
Carnosine dipeptidase 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CNDP1
Synonyms (NCBI Gene) Gene synonyms aliases
CN1, CPGL2, HsT2308
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CN1
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q22.3
Summary Summary of gene provided in NCBI Entrez 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 polymorp
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0004180 Function Carboxypeptidase activity IEA
GO:0005576 Component Extracellular region IEA
GO:0005829 Component Cytosol IBA 21873635
GO:0005829 Component Cytosol IDA 24891507
GO:0006508 Process Proteolysis IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609064 20675 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
TKTVIPGRVIGKFSIRLVPHMNVSAVEKQVTRHLEDVFSKRN
SSNKMVVSMTLGLHPWIA
NIDDTQYLAAKRAIRTVFGTEPDMIRDGSTIPIAKMFQEIVHKSVVLIPLGAVDDGEHSQ
NEKINRWNYIEGTKLFAAFFLE
MAQLH
Sequence length 507
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Arginine and proline metabolism
Histidine metabolism
beta-Alanine metabolism
Metabolic pathways
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Mental retardation Profound Mental Retardation, Mental deficiency, Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
4673339, 4718759
Associations from Text Mining
Disease Name Relationship Type References
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