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FLASH GENE

Symbol

KRT16

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

HGNC name	keratin 16
HGNC id	6423

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	NEPPK palmoplantar keratoderma (hyperkeratosis), nonepidermolytic PC117 pachyonychia congenita, type 1
Location	17q21.2      Physical location : 39.766.032 - 39.769.079
Synonym name	cytokeratin 16
	keratin, type I cytoskeletal 16
	focal non-epidermolytic palmoplantar keratoderma
Synonym symbol(s)	CYK16, K16, CK16, K1CP, NEPPK, KRT16A

DNA

TYPE	functioning gene
STRUCTURE	2.99 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 KRT16 8 - 1720 51.3 473 - Ito (2008)

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 esophagus       highly   mouth tongue         pharynx       highly Respiratory respiratory tract larynx     highly skin tegument palmoplantar         Skin/Tegument skin appendages hair follicle       skin appendages nails

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial absorptive excretory digestive epithelium     Epithelial barrier/lining uroepithelium     Epithelial secretory glandular exocrine

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

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

mono polymer

heteromer , dimer

HOMOLOGY

interspecies	ortholog to murine Krt1-16
	homolog to C.elegans F37C12.12

Homologene

FAMILY	intermediate filament family
	type I keratin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament
text	coexpressed with keratin 14

basic FUNCTION

responsible for the structural integrity of epithelial cells

CELLULAR PROCESS	cell life, differentiation
	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

text	cell shape and cell size control
	epidermal differentiation

PATHWAY

metabolism

signaling

a component	dimerizing with KRT6A, KRT6B
	heterodimer of a type I (acidic) and a type II (neutral to basic) keratin
	associating with KRT6 isomers

INTERACTION

DNA

RNA

small molecule

protein

binding to KRT6 isomers

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

PC117 , NEPPK

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS