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FLASH GENE

Symbol

KRT17

contributors: mct/npt/pgu - updated : 08-06-2018

HGNC name	keratin 17
HGNC id	6427

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	PC217 pachyonychia congenita type II STM steatocystoma multiplex
Location	17q21.2      Physical location : 39.775.691 - 39.780.882
Synonym name	keratin, type I cytoskeletal 17
	cytokeratin-17
	pachyonychia congenita 1 (Jackson-Lawler type)
Synonym symbol(s)	K17, PC, PC2, PCHC1, CK-17, 39.1

DNA

TYPE	functioning gene
STRUCTURE	5.12 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000422 8 - 1574 48.1 432 - 2007 17719747

EXPRESSION

Type	ubiquitous

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 Digestive mouth       highly Endocrine pancreas         Nervous brain         Reproductive male system prostate       Respiratory respiratory tract larynx     highly Skin/Tegument skin appendages nails         skin appendages hair follicle       skin appendages skin gland sebaceous gland

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining       Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine

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) and flanked by the homology domain H1
	variable region (V1, V2) and end sequences (E1, E2)

mono polymer

heteromer , tetramer

HOMOLOGY

Homologene

FAMILY	intermediate filaments family
	type I keratin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament

basic FUNCTION	may be a marker of basal cell differentiation in complex epithelia and therefore indicative of a certain type of epithelial "stem cells"
	regulating cell growth through binding to the adaptor protein 14-3-3sigma
	immunomodulatory role in Hedgehog driven basaloid skin tumors that could impact additional tumor settings, psoriasis and wound repair

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	interacting with TNF (acting as two novel and interdependent regulators of hair cycling)
	IPO13 may contribute to the pathogenesis of pterygium via modulation of KRT17 and JUN

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PC217 , STM

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed dermatology skin   potentially attractive target for new therapies aimed at curtailing conditions driven by or linked to chronic cutaneous inflammation

ANIMAL & CELL MODELS