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FLASH GENE

Symbol

KRT5

contributors: mct/npt - updated : 29-05-2013

HGNC name	keratin 5
HGNC id	6442

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DDD Dowling-Degos disease EBS2A epidermolysis bullosa simplex, generalized other EBS3A epidermolysis bullosa simplex, localized EBS5A epidermolysis bullosa herpetiformis, Dowling-Meara type EBSMP epidermolysis bullosa simplex with mottled pigmentation
Location	12q13.13      Physical location : 52.908.360 - 52.914.243
Synonym name	epidermolysis bullosa simplex, Dowling-Meara/Kobner/Weber-Cockayne types
	58 kda cytokeratin
	cytokeratin 5
Synonym symbol(s)	EBS2, K5, CK5, KRT5A, DDD

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	type II cytokeratins are clustered in a region of chromosome 12q12-q13
STRUCTURE	5.90 kb     9 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_000424 9 - 2320 NP_000415 62.4 590 - 2000 10903910

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 esophagus       highly   mouth       highly Respiratory respiratory tract larynx     highly Skin/Tegument skin

tissue

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

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)
	non alpha helical linkers (L1,2,3) and flanked by the homology domains H1 and H2, by variable region (V1,V2) and end sequences (E1, E2)

mono polymer

heteromer , dimer

HOMOLOGY

Homologene

FAMILY	intermediate filament family
	type II keratin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic
	intracellular,cytoplasm,cytoskeleton,intermed filament
text	expressed in mitotically active basal layer cells, along with its partner KRT14, and their expression is down-regulated as cells differentiate

basic FUNCTION	consisting of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues
	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

PATHWAY

metabolism

signaling

a component	heterotetramer of two type I and two type II keratins
	associated with keratin 14

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EBS2A , EBS3A , EBS5A , EBSMP , DDD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS