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FLASH GENE

Symbol

KRT14

contributors: mct - updated : 29-05-2013

HGNC name	keratin 14
HGNC id	6416

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DPIR dermatopathia pigmentosa reticularis EBS2B epidermolysis bullosa simplex, generalized other EBS3B epidermolysis bullosa simplex, localized EBS5B epidermolysis bullosa herpetiformis, Dowling-Meara type NFJ Naegeli-Franceschetti-Jadassohn syndrome
Location	17q21.2      Physical location : 39.738.532 - 39.743.147
Synonym name	cytokeratin 14
	keratin, type I cytoskeletal 14
	keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner)
Synonym symbol(s)	K14, CK14, NFJ

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
STRUCTURE	4.61 kb     8 Exon(s)    3 Copie(s)

10 Kb 5' upstream gene genomic sequence study

text structure	at least one pseudogene has been identified at 17p12-p11
	clustered with KRT16 and KRT17

MAPPING

cloned

Y

linked

N

status

confirmed

Map	5' - KRT19 - KRT15 - KRT17 - KRT16 - KRT14 - 3'

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000526 8 - 1653 NP_000517 51.6 472 - 2011 21900500

EXPRESSION

Type

widely

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 pharynx       predominantly Nervous nerve cranial nerve     lowly Reproductive female system breast mammary gland   lowly   female system placenta     lowly Respiratory respiratory tract larynx     predominantly Skin/Tegument skin       highly Urinary bladder       highly Visual eye       lowly

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

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

secondary structure	four helical domains (1A, 1B, 2A, 2B)
	non alpha helical linkers (L1, 2, 3)

mono polymer

heteromer , dimer , tetramer

HOMOLOGY

interspecies	homolog to rattus Krt1-14 (92.01 pc)
	homolog to murine Krt14 (92.93 pc)

Homologene

FAMILY	intermediate filament family
	type I keratin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,intermed filament
	intracellular,nucleus
text	expressed in mitotically active basal layer cells, along with its partner KRT5, and their expression is down-regulated as cells differentiate

basic FUNCTION	forming the cytoskeleton of epithelial cells
	cytoplasmic intermediate filament protein preferentially expressed by epithelial tissues in a site-specific and differentiation-dependent manner
	KRT5 and KRT14 may have a role in maintenance of cell proliferation potential in the basal layer of stratified epithelia, modulating phosphatidylinositol 3-kinase/Akt-mediated cell proliferation and/or NOTCH1-dependent cell differentiation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	epidermis development

PATHWAY

metabolism

signaling

a component

heterotetramer of two type I and two type II keratins

INTERACTION

DNA

RNA

small molecule

protein

KRT5

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EBS2B , EBS3B , EBS5B , DPIR , NFJ

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in gastric cancer

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed dermatology skin   treatments based on thyroid hormone and IFN-gamma that suppress promoter activity could become effective agents in therapy for patients with EBS (epidermolysis bullosa simplex)

ANIMAL & CELL MODELS