TGM3

Protein identityUniProt · HPA

UniProt accession

Q08188

Gene

TGM3

Ensembl

ENSG00000125780

Chromosome

20

Canonical length

693 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

693 residues, UniProt reviewed canonical sequence.

>Q08188|TGM3
     1  MAALGVQSIN WQTAFNRQAH HTDKFSSQEL ILRRGQNFQV LMIMNKGLGS NERLEFIVST
    61  GPYPSESAMT KAVFPLSNGS SGGWSAVLQA SNGNTLTISI SSPASAPIGR YTMALQIFSQ
   121  GGISSVKLGT FILLFNPWLN VDSVFMGNHA EREEYVQEDA GIIFVGSTNR IGMIGWNFGQ
   181  FEEDILSICL SILDRSLNFR RDAATDVASR NDPKYVGRVL SAMINSNDDN GVLAGNWSGT
   241  YTGGRDPRSW NGSVEILKNW KKSGFSPVRY GQCWVFAGTL NTALRSLGIP SRVITNFNSA
   301  HDTDRNLSVD VYYDPMGNPL DKGSDSVWNF HVWNEGWFVR SDLGPSYGGW QVLDATPQER
   361  SQGVFQCGPA SVIGVREGDV QLNFDMPFIF AEVNADRITW LYDNTTGKQW KNSVNSHTIG
   421  RYISTKAVGS NARMDVTDKY KYPEGSDQER QVFQKALGKL KPNTPFAATS SMGLETEEQE
   481  PSIIGKLKVA GMLAVGKEVN LVLLLKNLSR DTKTVTVNMT AWTIIYNGTL VHEVWKDSAT
   541  MSLDPEEEAE HPIKISYAQY EKYLKSDNMI RITAVCKVPD ESEVVVERDI ILDNPTLTLE
   601  VLNEARVRKP VNVQMLFSNP LDEPVRDCVL MVEGSGLLLG NLKIDVPTLG PKEGSRVRFD
   661  ILPSRSGTKQ LLADFSCNKF PAIKAMLSID VAE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TGM3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.22

Highest tissue expression

1,778 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TGM3.

Disease | AllUniProt

Conditions TGM3 is implicated in, by any mechanism.

• Uncombable hair syndrome 2 (UHS2) MIM:617251

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 173 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Uncombable hair syndrome 2

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.69

gnomAD pLI

0

gnomAD missense Z

-0.41

DepMap mean gene effect

0.06

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• hair follicle morphogenesis
• keratinization
• keratinocyte differentiation
• peptide cross-linking
• protein modification process

Molecular functions

• acyltransferase activity
• calcium ion binding
• catalytic activity
• protein-glutamine gamma-glutamyltransferase activity
• structural molecule activity

Cellular components

• cytoplasm
• extracellular exosome
• extrinsic component of cytoplasmic side of plasma membrane
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Transglutaminase, N-terminal
• Transglutaminase-like
• Transglutaminase, C-terminal
• Immunoglobulin-like fold
• Transglutaminase, active site
• Immunoglobulin E-set
• Protein-glutamine gamma-glutamyltransferase, animal
• Transglutaminase, C-terminal domain superfamily
• Transglutaminase-like superfamily
• Papain-like cysteine peptidase superfamily
• Protein-glutamine gamma-glutamyltransferases
• Transglutaminase family
• Transglutaminase family, C-terminal ig like domain
• Transglutaminase-like superfamily

KeywordsUniProt

• Acetylation
• Acyltransferase
• Calcium
• Cytoplasm
• Keratinization
• Metal-binding
• Phosphoprotein
• Transferase
• Zymogen

InteractionsUniProt · HPA

Protein binding partners of TGM3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• E2F6