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FLASH GENE

Symbol

KRT9

contributors: mct/npt - updated : 11/09/2008

HGNC name	keratin 9
HGNC id	6447

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EPPK palmoplantar keratoderma, epidermolytic
Location	17q21.1-q21.2      Physical location : 39.722.095 - 39.728.310
Synonym name	keratin 9 (epidermolytic palmoplantar keratoderma)
	cytokeratin 9
	type I cytoskeletal 9
	epidermolytic palmoplantar keratoderma
Synonym symbol(s)	EPPK, K9, CK-9

DNA

TYPE	functioning gene
STRUCTURE	6.21 kb     8 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 KRT9 8 - 2290 62.1 623 - Schweizer (2006)

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 Skin/Tegument skin palm         skin sole

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	conserved central rod domain
	four helical domains (1A, 1B, 2A, 2B) interrupted by non alpha helical linkers (L1, 2, 3)
	flanked by the homology domain H1, by variable region (V1, V2) and end sequences (E1, E2)

mono polymer

heteromer , dimer , tetramer

HOMOLOGY

interspecies

homolog to C.elegans Y54E10A.9

Homologene

FAMILY	intermediate filament family
	type I keratin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament

basic FUNCTION

may serve an important special function either in the mature palmar and plantar skin tissue or in the morphogenic program of the formation of these tissue

CELLULAR PROCESS	cell life, differentiation

PHYSIOLOGICAL PROCESS

text	epidermal differentiation

PATHWAY

metabolism

signaling

a component	dimerizing either with KRT1 or KRT10
	heterotetramer of two type I and two type II keratins

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EPPK

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS