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FLASH GENE

Symbol

CNDP1

contributors: mct - updated : 13-07-2010

HGNC name	carnosine dipeptidase 1 (metallopeptidase M20 family)
HGNC id	20675

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	50.57 kb     12 Exon(s)

motif	repetitive sequence   triplet
text structure	trinucleotide (CTG) repeat length polymorphism in the coding region

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032649 12 - 2211 NP_116038 - 507 - -

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain       specific   nerve         Skin/Tegument skin         Visual eye

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

conjugated

GlycoP

mono polymer

homomer , dimer

HOMOLOGY

interspecies	homolog to murine Cndp1 (81.7pc)
	homolog to rattus Cndp1 (82.5pc)

Homologene

FAMILY

M20 metalloprotease family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm

basic FUNCTION

potential neuroprotective and neurotransmitter functions, degrading carnosine, homocarnosine and other related peptides (Teufel 2003)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

homodimeric peptidase

INTERACTION

DNA

RNA

small molecule	metal binding,
	binding two Zn2+ ions per subunit

protein

cell & other

REGULATION

inhibited by

the metal chelator phenantrolin

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to diabetic nephropathy, may at least be mediated by altered glucose metabolism in type 2 diabetic patients (Sauerhöfer 2007)

Variant & Polymorphism repeat	trinucleotide repeat in exon 2, coding for a leucine repeat in the leader peptide of the carnosinase-1 precursor, was associated with diabetic nephropathy
	diabetic patients with the Mannheim allele (5 Leucines) are less susceptible to nephropathy (Janssen 2005)

Candidate gene	deficiency of CNDP1 may cause homocarcinosis
	association between the CNDP1 gene and diabetic nephropathy is ex specific (Mooyaart 2010)
Marker
Therapy target	CNDP1 secretion is significantly higher in cells expressing variants with more than 5 leucines in the signal peptide, it might explain why patients with homozygous 5L allele have low serum carnosinase activity and are protected against diabetic nephropathy (Riedl 2007)

ANIMAL & CELL MODELS