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FLASH GENE

Symbol

TGM5

contributors: mct/npt - updated : 05-06-2019

HGNC name	transglutaminase 5
HGNC id	11781

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	APSS acral peeling skin syndrome
Location	15q15.2      Physical location : 43.524.792 - 43.559.055
Synonym name	TGase 5
	TGase X
	Transglutaminase X
Synonym symbol(s)	TGX, TGM6, TGMX, MGC141907
EC.number	2.3.2.13

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
text	arranged in tandem with EPB42 and TGM7
STRUCTURE	33.68 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	Binding site   transcription factor

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004245 12 - 1939 NP_004236 - 638 - - NM_201631 13 - 2185 NP_963925 - 720 - -

EXPRESSION

Type	restricted

constitutive of

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 tongue       Reproductive female system         Skin/Tegument skin

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument hair follicle cell Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

homolog to murine Tgm5

Homologene

FAMILY	transglutaminase superfamily
	transglutaminase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum ,rough,smooth
	intracellular,nucleus

basic FUNCTION	catalyzing the cross-linking of proteins and the conjugation of polyamines to proteins
	contributing to the formation of the cornified cell envelope of keratinocytes
	having function vital for maintaining cell-cell adhesion between the outermost layers of the epidermis
	involved in signal transduction and, like two other TGs (TGM3 and TGM5), is able to bind and hydrolyze guanosine triphosphate (Zocchi 2007)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

APSS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS