• Gene id: 84735

Gene Summary

• Gene Symbol: CNDP1   Gene   UCSC   Ensembl
• Aliases: CN1, CPGL2, HsT2308
• Gene name: carnosine dipeptidase 1
• Alternate names: beta-Ala-His dipeptidase, CNDP dipeptidase 1, carnosinase 1, carnosine dipeptidase 1 (metallopeptidase M20 family), glutamate carboxypeptidase-like protein 2, serum carnosinase,
• Gene location: 18q22.3 (74534499: 74587211)     Exons: 12     NC_000018.10
• Gene summary(Entrez): 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
• OMIM: 609064

Protein Summary

• Protein general information: Q96KN2  
  • Name: Beta Ala His dipeptidase (EC 3.4.13.20) (CNDP dipeptidase 1) (Carnosine dipeptidase 1) (Glutamate carboxypeptidase like protein 2) (Serum carnosinase)
  • Length: 507  
  • Mass: 56706
  • Tissue specificity: Found in serum and adult nervous central system. Absent in serum from patients with homocarnosinosis. {ECO
• Sequence:

  MDPKLGRMAASLLAVLLLLLERGMFSSPSPPPALLEKVFQYIDLHQDEFVQTLKEWVAIESDSVQPVPRFRQELF
  RMMAVAADTLQRLGARVASVDMGPQQLPDGQSLPIPPIILAELGSDPTKGTVCFYGHLDVQPADRGDGWLTDPYV
  LTEVDGKLYGRGATDNKGPVLAWINAVSAFRALEQDLPVNIKFIIEGMEEAGSVALEELVEKEKDRFFSGVDYIV
  ISDNLWISQRKPAITYGTRGNSYFMVEVKCRDQDFHSGTFGGILHEPMADLVALLGSLVDSSGHILVPGIYDEVV
  PLTEEEINTYKAIHLDLEEYRNSSRVEKFLFDTKEEILMHLWRYPSLSIHGIEGAFDEPGTKTVIPGRVIGKFSI
  RLVPHMNVSAVEKQVTRHLEDVFSKRNSSNKMVVSMTLGLHPWIANIDDTQYLAAKRAIRTVFGTEPDMIRDGST
  IPIAKMFQEIVHKSVVLIPLGAVDDGEHSQNEKINRWNYIEGTKLFAAFFLEMAQLH

• Structural information:
  • Interpro: IPR001261  IPR017153  IPR002933  IPR011650  
  • Prosite: PS00759
  • PDB: 3DLJ
  • PDBsum: 3DLJ
  • STRING: ENSP00000351682
• Other Databases: GeneCards:  CNDP1  Malacards:  CNDP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0006508	proteolysis	IBA	biological process
GO:0008233	peptidase activity	IBA	molecular function
GO:0016805	dipeptidase activity	IBA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0016805	dipeptidase activity	IEA	molecular function
GO:0004180	carboxypeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0032268	regulation of cellular protein metabolic process	IDA	biological process
GO:0016805	dipeptidase activity	IDA	molecular function
GO:0005576	extracellular region	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00330	Arginine and proline metabolism
hsa00410	beta-Alanine metabolism
hsa00340	Histidine metabolism

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq