CNDP1
Carnosine dipeptidase 1 (metallopeptidase M20 family) | |||||
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Identifiers | |||||
Symbols | CNDP1 ; CN1; CPGL2; HsT2308; MGC102737; MGC10825; MGC142072 | ||||
External IDs | Template:MGI HomoloGene: 57178 | ||||
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RNA expression pattern | |||||
More reference expression data | |||||
Orthologs | |||||
Template:GNF Ortholog box | |||||
Species | Human | Mouse | |||
Entrez | n/a | n/a | |||
Ensembl | n/a | n/a | |||
UniProt | n/a | n/a | |||
RefSeq (mRNA) | n/a | n/a | |||
RefSeq (protein) | n/a | n/a | |||
Location (UCSC) | n/a | n/a | |||
PubMed search | n/a | n/a |
Carnosine dipeptidase 1 (metallopeptidase M20 family), also known as CNDP1, is a human gene.[1]
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.[1]
The metabolic disorder Carnosinemia may be caused by mutations in this gene.
References
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. 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. PMID 7116644.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. 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.
- Teufel M, Saudek V, Ledig JP; et al. (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.
- 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. doi:10.1073/pnas.242603899. 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. 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. 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. 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. doi:10.1038/nature04209. PMID 16189514.
- 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. 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.
- 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.
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