Biology:CNDP1
From HandWiki
Generic protein structure example |
Beta-Ala-His dipeptidase is an enzyme that in humans is encoded by the CNDP1 gene.[1][2]
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.[2]
The metabolic disorder Carnosinemia may be caused by mutations in this gene.
References
- ↑ "Sequence identification and characterization of human carnosinase and a closely related non-specific dipeptidase". J Biol Chem 278 (8): 6521–31. Feb 2003. doi:10.1074/jbc.M209764200. PMID 12473676.
- ↑ 2.0 2.1 "Entrez Gene: CNDP1 carnosine dipeptidase 1 (metallopeptidase M20 family)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=84735.
Further reading
- "Homocarnosinosis: lack of serum carnosinase is the defect probably responsible for elevated brain and CSF homocarnosine". Clin. Chim. Acta 132 (2): 157–65. 1983. doi:10.1016/0009-8981(83)90243-7. PMID 6616870.
- "Human serum carnosinase: characterization, distinction from cellular carnosinase, and activation by cadmium". Clin. Chim. Acta 123 (3): 221–31. 1982. doi:10.1016/0009-8981(82)90166-8. PMID 7116644.
- "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. 1997. doi:10.1101/gr.6.9.791. PMID 8889548.
- "Creation of genome-wide protein expression libraries using random activation of gene expression". Nat. Biotechnol. 19 (5): 440–5. 2001. doi:10.1038/88107. PMID 11329013.
- "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. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "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. 2003. doi:10.1101/gr.1293003. PMID 12975309.
- "Glutamate carboxypeptidase II gene expression in the human frontal and temporal lobe in schizophrenia". Neuropsychopharmacology 29 (1): 117–25. 2004. doi:10.1038/sj.npp.1300304. PMID 14560319.
- "The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Carnosine as a protective factor in diabetic nephropathy: association with a leucine repeat of the carnosinase gene CNDP1". Diabetes 54 (8): 2320–7. 2005. doi:10.2337/diabetes.54.8.2320. PMID 16046297.
- "Towards a proteome-scale map of the human protein-protein interaction network". Nature 437 (7062): 1173–8. 2005. doi:10.1038/nature04209. PMID 16189514. Bibcode: 2005Natur.437.1173R.
- "Human Plasma N-Glycoproteome Analysis by Immunoaffinity Subtraction, Hydrazide Chemistry, and Mass Spectrometry". J. Proteome Res. 4 (6): 2070–80. 2006. doi:10.1021/pr0502065. PMID 16335952.
- "Allelic variation in the CNDP1 gene and its lack of association with longevity and coronary heart disease". Mech. Ageing Dev. 127 (11): 817–20. 2007. doi:10.1016/j.mad.2006.08.002. PMID 16965804.
- "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. 2007. doi:10.1158/1078-0432.CCR-06-1307. PMID 17121880.
- "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. 2007. doi:10.1093/ndt/gfl717. PMID 17205963.
- "A CTG polymorphism in the CNDP1 gene determines the secretion of serum carnosinase in Cos-7 transfected cells". Diabetes 56 (9): 2410–3. 2007. doi:10.2337/db07-0128. PMID 17601991.
- "L-carnosine, a substrate of carnosinase-1, influences glucose metabolism". Diabetes 56 (10): 2425–32. 2007. doi:10.2337/db07-0177. PMID 17601992.
External links
- Human CNDP1 genome location and CNDP1 gene details page in the UCSC Genome Browser.