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FLASH GENE

Symbol

TCHH

contributors: mct - updated : 18-01-2017

HGNC name	trichohyalin
HGNC id	11791

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	UHS3 uncombable hair syndrome 3
Location	1q21.3      Physical location : 152.078.792 - 152.086.556
Synonym name	hair follicle protein
Synonym symbol(s)	KIAA0457, TCH, THL, THH, MGC157889, MGC157890, TRHY, AHF

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered in epidermal differentiation complex (EDC@)
STRUCTURE	7.80 kb     2 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map

see EDC@

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_007113 3 - 6995 NP_009044 - 1943 - 2009 18643848

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 Cardiovascular heart       highly Digestive mouth tongue       Reproductive female system placenta     highly Skin/Tegument skin appendages hair follicle inner root   Homo sapiens

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 hair follicle cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two EF hands Ca2+binding domains at the N terminus
	a single stranded alpha helical rod including a keratin intermediate filament (KIF) binding site

mono polymer

monomer

HOMOLOGY

intraspecies

homolog to S100

Homologene

FAMILY

S100-fused protein family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytoskeleton,intermed filament

basic FUNCTION	calcium binding protein of differentiated hard keratinizing tissues
	intermediate filament-associated protein (IFAP)
	plays a key role in the assembly of keratin intermediate filaments (IFs) during the hair cycle
	is a potential major autoantigen in human alopecia areata
	large structural protein abundant in the inner root sheath (IRS) of anagenic hair follicles, which has been thought to mediate the keratin filamentous assembly
	latches onto the keratin bundles by its C-terminus and rearranges the keratin meshwork by intrinsic cohesive activity for the granule formation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text

epidermal

PATHWAY

metabolism

signaling

a component

component of the epidermal differentiation complex (EDC@)

INTERACTION

DNA

RNA

small molecule

protein

BMP4 facilitates TCHH transcription, and intriguingly, a nuclear lamina component plays a key role in the posttranslational stabilization of TCHH protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

UHS3

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS