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FLASH GENE

Symbol

DPP6

contributors: mct/npt - updated : 23-04-2009

HGNC name	dipeptidylpeptidase 6
HGNC id	3010

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MRD33 mental retardation, autosomal dominant 33
Location	7q36.2      Physical location : 153.584.418 - 154.685.994
Synonym name	CD26-related dipeptidyl aminopeptidase-like protein
	dipeptidylpeptidase VI
	dipeptidylpeptidase 6
Synonym symbol(s)	DPPX, MGC46605
EC.number	3.4.14.6

DNA

TYPE	functioning gene
STRUCTURE	936.22 kb     26 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed DPP6 I1 or DPPX-L 28 - 4542 97.5 865 prominently expressed in brain regions where Kv4 subunits are also expressed Yokotani, Jerng, Strop (2004), Nadal (2006) DPP6 I2 or DPPX-S - - 4460 - 803 prominently expressed in brain regions where Kv4 subunits are also expressed Yokotani, Jerng, Strop (2004), Nadal (2006) DPP6 I3 or DPPX-K 5 - 4571 - 801 prominently expressed in brain regions where Kv4 subunits are also expressed Jerng, Strop (2004), Nadal (2006)

EXPRESSION

Type

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 Cardiovascular heart       predominantly Nervous brain

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

an additional serine near the "active" site

mono polymer

dimer

HOMOLOGY

intraspecies	homolog to dipeptidylpeptidase
	homolog to the related protein DPP-IV

Homologene

FAMILY	peptidase family S9B
	dipeptidyl aminopeptidase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm

basic FUNCTION	may be involved in the physiological processes of brain function
	essential component of the native cardiac I(to) channel complex in heart (Radicke 2005)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

putative component of the transient outward current in the heart (Alders 2009)

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MRD33

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in Idiopathic Ventricular Fibrillation (see VFI1) (Alders 2009)

Susceptibility

to amyotrophic lateral sclerosis

Variant & Polymorphism SNP	strongly associated with susceptibility to amyotrophic lateral sclerosis (Dupre 20098)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS