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FLASH GENE

Symbol

TGM1

contributors: mct - updated : 28-09-2013

HGNC name	transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
HGNC id	11777

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARCI1 ichthyosis, congenital, autosomal recessive 1 BSI bathing suit ichthyosis
Location	14q11.2      Physical location : 24.718.321 - 24.732.416
Synonym name	protein-glutamine-gamma-glutamyltransferase 1
	transglutaminase keratinocyte
Synonym symbol(s)	TGK1, ICR2, TGASE, LI, LI1, KTG
EC.number	2.3.2.13

DNA

TYPE	functioning gene
STRUCTURE	14.00 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence

cytosine-phosphate-guanine/HTF

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - - 2777 variant 1 89 817 - - also called TGM1a variant 2 - initiation site 2700 variant 2 - - - Kim two nucleotide, 5' deletions differing from 1a by the first 15 amino acids also called TGM1b

EXPRESSION

Type

widely

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 esophagus       highly   mouth       highly   pharynx       lowly Lymphoid/Immune thymus       moderately Reproductive female system placenta     moderately   female system uterus cervix   moderately   female system uterus     lowly Respiratory respiratory tract trachea     lowly   respiratory tract larynx     predominantly Urinary bladder       moderately   kidney       lowly Visual eye       lowly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Epithelial barrier lining retinal pigment epithelium (RPE)   lowly Muscular striatum skeletal   lowly

cells

System Cell Pubmed Species Stage Rna symbol Skin/Tegument keratinocyte

cell lineage

cell lines

fluid/secretion

at STAGE

Text	umbilical cord at an highly level

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	unique N terminal
	C terminal extensions

HOMOLOGY

interspecies	homolog to dog TGM1 (92.26 pc)
	homolog to chimpanzee TGM1 (99.63 pc)
	homolog to rattus Tgm1 (91.52 pc)
	homolog to murine Tgm1 (91.49 pc)

intraspecies

homolog to clotting factor FXIII catalytic subunit

Homologene

FAMILY

transglutaminase family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm
text	membrane bound

basic FUNCTION	transglutaminase, crosslinking the structural components (SPRRs,IVL and LOR) and constituents of cornified enveloppe
	also binding omega-hydroxyceramides to evolucrin by ester bond formation in the terminal step of the differentiation programme of epidermal keratinocytes

CELLULAR PROCESS

cell organization/biogenesis

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ARCI1 , BSI

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS