1. Gene
  2. TGM3 - transglutaminase 3 Gene

TGM3 - transglutaminase 3 Gene

Homo sapiens

Also known as TGE; UHS2

Gene ID: 7053 | Gene type: protein coding

About TGM3

Cytogenetic location: 20p13 Genomic coordinates (GRCh38): 20:2,296,001-2,341,079 (from NCBI)

This gene has 2 transcripts (splice variants), 131 orthologues, 8 paralogues and is associated with 2 phenotypes. Restricted expression toward esophagus (RPKM 758.5).

Summary

Transglutaminases are Enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene consists of two polypeptide chains activated from a single precursor protein by proteolysis. The encoded protein is involved the later stages of cell envelope formation in the epidermis and hair follicle. [provided by RefSeq, Jul 2008]

TGM3 Products(1)

mRNA Protein Name
NM_003245.4 NP_003236.3 protein-glutamine gamma-glutamyltransferase E
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables calcium ion binding IDA
IDA: Inferred from direct assay
12679341 GOA
enables catalytic activity IDA
IDA: Inferred from direct assay
8099584 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
28514442 GOA
enables protein-glutamine gamma-glutamyltransferase activity IDA
IDA: Inferred from direct assay
8099584 GOA
enables structural molecule activity IDA
IDA: Inferred from direct assay
5038456 GOA
Biological Process GO Annotation Evidence Reference Source
involved in keratinocyte differentiation IEP
IEP: Inferred from expression pattern
12850301 GOA
involved in peptide cross-linking IDA
IDA: Inferred from direct assay
24643 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytoplasm IDA
IDA: Inferred from direct assay
12850301 GOA
located in extrinsic component of cytoplasmic side of plasma membrane IDA
IDA: Inferred from direct assay
5038456 GOA
part of protein-containing complex IDA
IDA: Inferred from direct assay
5038456 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TGM3 Protein Structure

Transglut_N

Transglut_N: Transglutaminase family (5 - 119)

Transglut_core

Transglut_core: Transglutaminase-like superfamily (269 - 355)

Transglut_C

Transglut_C: Transglutaminase family, C-terminal ig like domain (486 - 587)

Transglut_C

Transglut_C: Transglutaminase family, C-terminal ig like domain (595 - 692)

  • 0
  • 200
  • 400
  • 600
  • 693 a.a.
Protein Preferred Names Protein Names

protein-glutamine gamma-glutamyltransferase E

E polypeptide, protein-glutamine-gamma-glutamyltransferase

Recombinant TGM3 Proteins

Cat. No. Product Name Accession Purity
HY-P77257 Transglutaminase 3/TGM3 Protein, Human (sf9, His) Q08188 (A2-E693) ≥95%

Related Diseases

Diseases Alias
Uncombable Hair Syndrome 2

UHS2

Uncombable Hair Syndrome 1

Uncombable Hair Syndrome

Pili Trianguli Et Canaliculi

Uhs

Cheveux Incoiffables

Spun Glass Hair

Unmanageable Hair Syndrome

UHS1

Chevelure En Vadrouille

Dermatitis Herpetiformis

Duhring'S Disease

Duhring-Brocq Disease

Dermatosis Herpetiformis

Brocq-Duhring Disease

Dh

Duhring Brocq Disease

Dh - [Dermatitis Herpetiformis]

Balanitis Xerotica Obliterans

Penile Lichen Sclerosus

Penile Leukoplakia

Balanitis
Netherton Syndrome

NETH

Ns

Netherton Disease

Comel-Netherton Syndrome

Erythroderma, Ichthyosiform, With Hypotrichosis And Hyper-Ige

Bamboo Hair Syndrome

Ichthyosis Linearis Circumflexa

Ichthyosiform Erythroderma With Hypotrichosis And Hyper-Ige

Ilc

Nts

N Syndrome

Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant

Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans

KFSD

Peeling Skin Syndrome

Deciduous Skin

Familial Continuous Skin Peeling Syndrome

Idiopathic Deciduous Skin

Keratosis Exfoliativa Congenita

Pss

Peeling Skin Disease

Skin Peeling Syndrome

Familial Continuous Skin Peeling

Keratolysis Exfoliativa Congenita

Exfoliation Syndrome

Keratolysis Exfoliativa

Loose Anagen Hair Syndrome

Loose Anagen Syndrome

LAHS

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Psoriasis
Dermatitis, Atopic

Atopic Dermatitis

Atopic Eczema

Dermatitis, Atopic, Susceptibility To, 1

Atod

Eczema, Atopic

Dermatitis, Atopic 1

Allergic Dermatitis

Atopic Neurodermatitis

Besnier'S Prurigo

Dermatitis, Atopic, 1

Dermatitis Atopic

Eczema

Besnier Prurigo

Skin Disease

Skin Diseases

Genodermatosis

Abnormality Of The Skin

Skin Diseases, Genetic

Skin And Subcutaneous Tissue Disease

Dermatologic Disorders

Autosomal Recessive Congenital Ichthyosis

Lamellar Ichthyosis

Congenital Ichthyosiform Erythroderma

Li

Congenital Nonbullous Ichthyosiform Erythroderma

Arci

Congenital Lamellar Ichthyosis

Nonbullous Congenital Ichthyosiform Erythroderma

Cie

Congenital Non-Bullous Ichthyosiform Erythroderma

Erythrodermic Ichthyosis

Nbcie

Ncie

Non-Bullous Congenital Ichthyosiform Erythroderma

Collodion Baby

Ichthyosis, Lamellar

Non Bullous Congenital Ichthyosiform Erythroderma

Ichthyosiform Erythroderma, Brocq Congenital, Nonbullous Form

Ichthyosiform Erythroderma, Congenital, Nonbullous, 1

Collodion Baby Syndrome

Ichthyoses, Lamellar

Nbie

Nonbullous Ichthyosiform Erythroderma

Classic Lamellar Ichthyosis

Ichthyosiform Erythroderma Nonbullous Congenital

Ichthyosiform Erythroderma Congenital

Ichthyosis, Congenital, Autosomal Recessive

Ichthyosiform Erythroderma, Congenital

Collodion Fetus

Non-Bullous Ichthyosiform Erythroderma

Chronic Cholangitis
Celiac Disease 1

Celiac Disease

Coeliac Disease

Celiac Sprue

Celiac Disease, Susceptibility To

Gluten-Sensitive Enteropathy

Nontropical Sprue

Sprue

CELIAC1

Celiac Disease, Susceptibility To, 1

Celiac Sprue 1

Celiac Sprue, Susceptibility To, 1

Gluten-Sensitive Enteropathy 1

Gluten-Sensitive Enteropathy, Susceptibility To, 1

Idiopathic Steatorrhea

Cœliac Disease

Gluten Intolerance

Gluten-Induced Enteropathy

Gluten Enteropathy

Celiac Disease, Susceptibility To, Type 1

Childhood Celiac Disease

Coeliac Rickets

Gee Disease

Gee-Herter Disease

Heubner-Herter Disease

Idiopathic Steatorrhoea

Thaysen'S Disease

Herter Gee Syndrome

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus TGM3 VGNC VGNC:81237
Rattus norvegicus TGM3 RGD RGD:1561831
Mus musculus TGM3 MGD MGI:98732
Canis familiaris TGM3 VGNC VGNC:47317
Bos taurus TGM3 VGNC VGNC:35811
Macaca mulatta TGM3 VGNC VGNC:98457
Others TGM3 NCBI