CNDP1

CNDP1
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3DLJ
Identifiers
Aliases	CNDP1 , CN1, CPGL2, HsT2308, carnosine dipeptidase 1 (metallopeptidase M20 family), carnosine dipeptidase 1
External IDs	OMIM: 609064; MGI: 2451097; HomoloGene: 57178; GeneCards: CNDP1; OMA:CNDP1 - orthologs
Gene location (Human) Chr. Chromosome 18 (human) [1] Band 18q22.3 Start 74,534,500 bp [1] End 74,587,212 bp [1]
Gene location (Mouse) Chr. Chromosome 18 (mouse) [2] Band 18|18 E4 Start 84,628,634 bp [2] End 84,668,220 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in inferior ganglion of vagus nerve endothelial cell C1 segment medulla oblongata corpus callosum pons superior vestibular nucleus ventral tegmental area subthalamic nucleus substantia nigra Top expressed in vestibular membrane of cochlear duct proximal tubule right kidney human kidney primary oocyte Epithelium of choroid plexus secondary oocyte efferent ductule jejunum renal pelvis More reference expression data BioGPS More reference expression data
Gene ontology Molecular function carboxypeptidase activity hydrolase activity peptidase activity metallopeptidase activity metal ion binding dipeptidase activity Cellular component extracellular region cytosol Biological process metabolism proteolysis regulation of cellular protein metabolic process Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 84735 338403 Ensembl ENSG00000150656 ENSMUSG00000056162 UniProt Q96KN2 Q8BUG2 RefSeq (mRNA) NM_032649 NM_177450 RefSeq (protein) NP_116038 NP_803233 Location (UCSC) Chr 18: 74.53 – 74.59 Mb Chr 18: 84.63 – 84.67 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Beta-Ala-His dipeptidase is an enzyme that in humans is encoded by the CNDP1 gene. ^{[5] [6]}

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. ^[6]

The metabolic disorder Carnosinemia may be caused by mutations in this gene.

References

1. GRCh38: Ensembl release 89: ENSG00000150656 – Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000056162 – Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Teufel M, Saudek V, Ledig JP, Bernhardt A, Boularand S, Carreau A, Cairns NJ, Carter C, Cowley DJ, Duverger D, Ganzhorn AJ, Guenet C, Heintzelmann B, Laucher V, Sauvage C, Smirnova T (Feb 2003). "Sequence identification and characterization of human carnosinase and a closely related non-specific dipeptidase". J Biol Chem. 278 (8): 6521–31. doi: 10.1074/jbc.M209764200 . PMID   12473676.
6. "Entrez Gene: CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family)".

Further reading

• Lenney JF, Peppers SC, Kucera CM, Sjaastad O (1983). "Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine". Clin. Chim. Acta. 132 (2): 157–65. doi:10.1016/0009-8981(83)90243-7. PMID   6616870.
• Lenney JF, George RP, Weiss AM, et al. (1982). "Human serum carnosinase: characterization, distinction from cellular carnosinase, and activation by cadmium". Clin. Chim. Acta. 123 (3): 221–31. doi:10.1016/0009-8981(82)90166-8. PMID   7116644.
• Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID   8889548.
• Harrington JJ, Sherf B, Rundlett S, et al. (2001). "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. doi:10.1038/88107. PMID   11329013. S2CID   25064683.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Clark HF, Gurney AL, Abaya E, et al. (2003). "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. doi:10.1101/gr.1293003. PMC   403697 . PMID   12975309.
• Ghose S, Weickert CS, Colvin SM, et al. (2004). "Glutamate carboxypeptidase II gene expression in the human frontal and temporal lobe in schizophrenia". Neuropsychopharmacology. 29 (1): 117–25. doi: 10.1038/sj.npp.1300304 . PMID   14560319.
• Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC   528928 . PMID   15489334.
• Janssen B, Hohenadel D, Brinkkoetter P, et al. (2005). "Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1". Diabetes. 54 (8): 2320–7. doi: 10.2337/diabetes.54.8.2320 . PMID   16046297.
• Rual JF, Venkatesan K, Hao T, et al. (2005). "Towards a proteome-scale map of the human protein-protein interaction network". Nature. 437 (7062): 1173–8. Bibcode:2005Natur.437.1173R. doi:10.1038/nature04209. PMID   16189514. S2CID   4427026.
• Liu T, Qian WJ, Gritsenko MA, et al. (2006). "Human Plasma N-Glycoproteome Analysis by Immunoaffinity Subtraction, Hydrazide Chemistry, and Mass Spectrometry". J. Proteome Res. 4 (6): 2070–80. doi:10.1021/pr0502065. PMC   1850943 . PMID   16335952.
• Zschocke J, Nebel A, Wicks K, et al. (2007). "Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease". Mech. Ageing Dev. 127 (11): 817–20. doi:10.1016/j.mad.2006.08.002. PMID   16965804. S2CID   32393210.
• Zhang P, Chan DW, Zhu Y, et al. (2007). "Identification of carboxypeptidase of glutamate like-B as a candidate suppressor in cell growth and metastasis in human hepatocellular carcinoma". Clin. Cancer Res. 12 (22): 6617–25. doi: 10.1158/1078-0432.CCR-06-1307 . PMID   17121880.
• Freedman BI, Hicks PJ, Sale MM, et al. (2007). "A leucine repeat in the carnosinase gene CNDP1 is associated with diabetic end-stage renal disease in European Americans". Nephrol. Dial. Transplant. 22 (4): 1131–5. doi: 10.1093/ndt/gfl717 . PMID   17205963.
• Riedl E, Koeppel H, Brinkkoetter P, et al. (2007). "A CTG polymorphism in the CNDP1 gene determines the secretion of serum carnosinase in Cos-7 transfected cells". Diabetes. 56 (9): 2410–3. doi: 10.2337/db07-0128 . PMID   17601991.
• Sauerhöfer S, Yuan G, Braun GS, et al. (2007). "L-carnosine, a substrate of carnosinase-1, influences glucose metabolism". Diabetes. 56 (10): 2425–32. doi: 10.2337/db07-0177 . PMID   17601992.

External links

• Human CNDP1 genome location and CNDP1 gene details page in the UCSC Genome Browser .