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UniProtKB - Q08188 (TGM3_HUMAN)

Protein

Protein-glutamine gamma-glutamyltransferase E

Gene

TGM3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Catalyzes the calcium-dependent formation of isopeptide cross-links between glutamine and lysine residues in various proteins, as well as the conjugation of polyamines to proteins. Involved in the formation of the cornified envelope (CE), a specialized component consisting of covalent cross-links of proteins beneath the plasma membrane of terminally differentiated keratinocytes. Catalyzes small proline-rich proteins (SPRR1 and SPRR2) and LOR cross-linking to form small interchain oligomers, which are further cross-linked by TGM1 onto the growing CE scaffold (By similarity). In hair follicles, involved in cross-linking structural proteins to hardening the inner root sheath.By similarity

Catalytic activityi

A protein-L-glutamine + a protein-L-lysine = a protein with an N6-(gamma-glutamyl)-L-lysine cross-link + NH3.PROSITE-ProRule annotation3 Publications

Cofactori

Ca2+2 PublicationsNote: Binds 3 Ca2+ cations per subunit. Binds 1 Ca2+ as a zymogen, and binds 2 more Ca2+ cations, or other divalent metal cations, after proteolytic processing.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Metal bindingi222Calcium 1; via carbonyl oxygen2 Publications1
Metal bindingi225Calcium 12 Publications1
Metal bindingi227Calcium 1; via carbonyl oxygen2 Publications1
Metal bindingi228Calcium 12 Publications1
Metal bindingi230Calcium 1; via carbonyl oxygen2 Publications1
Active sitei273PROSITE-ProRule annotation1
Metal bindingi302Calcium 22 Publications1
Metal bindingi304Calcium 22 Publications1
Metal bindingi306Calcium 22 Publications1
Metal bindingi308Calcium 2; via carbonyl oxygen2 Publications1
Metal bindingi325Calcium 22 Publications1
Active sitei331PROSITE-ProRule annotation1
Active sitei354PROSITE-ProRule annotation1
Metal bindingi394Calcium 32 Publications1
Metal bindingi416Calcium 3; via carbonyl oxygen2 Publications1
Metal bindingi444Calcium 32 Publications1
Metal bindingi449Calcium 32 Publications1

GO - Molecular functioni

  • calcium ion binding Source: UniProtKB
  • catalytic activity Source: UniProtKB
  • protein-glutamine gamma-glutamyltransferase activity Source: UniProtKB
  • transferase activity, transferring acyl groups Source: UniProtKB
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processKeratinization
LigandCalcium, Metal-binding

Enzyme and pathway databases

BRENDAi2.3.2.13 2681

Names & Taxonomyi

Protein namesi
Recommended name:
Protein-glutamine gamma-glutamyltransferase E (EC:2.3.2.133 Publications)
Alternative name(s):
Transglutaminase E
Short name:
TG(E)
Short name:
TGE
Short name:
TGase E
Transglutaminase-3
Short name:
TGase-3
Cleaved into the following 2 chains:
Protein-glutamine gamma-glutamyltransferase E 50 kDa catalytic chain
Protein-glutamine gamma-glutamyltransferase E 27 kDa non-catalytic chain
Gene namesi
Name:TGM3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 20

Organism-specific databases

EuPathDBiHostDB:ENSG00000125780.11
HGNCiHGNC:11779 TGM3
MIMi600238 gene
neXtProtiNX_Q08188

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Uncombable hair syndrome 2 (UHS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of uncombable hair syndrome, a condition characterized by scalp hair that is impossible to comb due to the haphazard arrangement of the hair bundles. A characteristic morphologic feature is a triangular to reniform to heart shape on cross-sections, and a groove, canal or flattening along the entire length of the hair. Most individuals are affected early in childhood and the hair takes on a spun-glass appearance with the hair becoming dry, curly, glossy, lighter in color, and progressively uncombable. The hair growth rate can range from slow to normal, and the condition improves with age.
See also OMIM:617251

Organism-specific databases

DisGeNETi7053
MalaCardsiTGM3
MIMi617251 phenotype
OpenTargetsiENSG00000125780
PharmGKBiPA36492

Chemistry databases

ChEMBLiCHEMBL3363
DrugBankiDB01864 5'-Guanosine-Diphosphate-Monothiophosphate
DB03152 B-2-Octylglucoside
DB04315 Guanosine-5'-Diphosphate
DB01972 Guanosine-5'-Monophosphate
DB00130 L-Glutamine

Polymorphism and mutation databases

BioMutaiTGM3
DMDMi257051080

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00000336522 – 467Protein-glutamine gamma-glutamyltransferase E 50 kDa catalytic chainAdd BLAST466
ChainiPRO_0000033653468 – 693Protein-glutamine gamma-glutamyltransferase E 27 kDa non-catalytic chainAdd BLAST226

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei2N-acetylalanine1 Publication1
Modified residuei111PhosphotyrosineCombined sources1
Modified residuei112PhosphothreonineCombined sources1

Post-translational modificationi

Activated by proteolytic processing. In vitro activation is commonly achieved by cleavage with dispase, a neutral bacterial protease. Dispase cleavage site was proposed to lie between Ser-470 and Ser-471 (PubMed:8099584) or between Pro-465 and Phe-466 (PubMed:16565075). Physiological activation may be catalyzed by CTSL and, to a lesser extent, by CTSS, but not by CTSB, CTSD nor CTSV (PubMed:16565075).2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei467 – 468Cleavage; by CTSL2

Keywords - PTMi

Acetylation, Phosphoprotein, Zymogen

Proteomic databases

EPDiQ08188
MaxQBiQ08188
PaxDbiQ08188
PeptideAtlasiQ08188
PRIDEiQ08188
ProteomicsDBi58578
TopDownProteomicsiQ08188

PTM databases

iPTMnetiQ08188
PhosphoSitePlusiQ08188

Expressioni

Gene expression databases

BgeeiENSG00000125780 Expressed in 106 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_TGM3
GenevisibleiQ08188 HS

Organism-specific databases

HPAiHPA004728

Interactioni

Subunit structurei

Consists of two polypeptide chains, which are synthesized as a precursor form of a single polypeptide.2 Publications

Protein-protein interaction databases

BioGridi112911, 27 interactors
IntActiQ08188, 8 interactors
MINTiQ08188
STRINGi9606.ENSP00000370867

Chemistry databases

BindingDBiQ08188

Structurei

Secondary structure

1693
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ08188
SMRiQ08188
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ08188

Family & Domainsi

Sequence similaritiesi

Belongs to the transglutaminase superfamily. Transglutaminase family.Curated

Phylogenomic databases

eggNOGiENOG410IFMV Eukaryota
ENOG410XQEZ LUCA
GeneTreeiENSGT00760000119108
HOVERGENiHBG004342
InParanoidiQ08188
KOiK05620
OMAiKADNMIR
OrthoDBiEOG091G030K
PhylomeDBiQ08188
TreeFamiTF324278

Family and domain databases

Gene3Di2.60.40.10, 3 hits
3.90.260.10, 1 hit
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR038765 Papain_like_cys_pep_sf
IPR002931 Transglutaminase-like
IPR036985 Transglutaminase-like_sf
IPR023608 Transglutaminase_animal
IPR013808 Transglutaminase_AS
IPR008958 Transglutaminase_C
IPR036238 Transglutaminase_C_sf
IPR001102 Transglutaminase_N
PfamiView protein in Pfam
PF00927 Transglut_C, 2 hits
PF01841 Transglut_core, 1 hit
PF00868 Transglut_N, 1 hit
PIRSFiPIRSF000459 TGM_EBP42, 1 hit
SMARTiView protein in SMART
SM00460 TGc, 1 hit
SUPFAMiSSF49309 SSF49309, 2 hits
SSF54001 SSF54001, 1 hit
SSF81296 SSF81296, 1 hit
PROSITEiView protein in PROSITE
PS00547 TRANSGLUTAMINASES, 1 hit

Sequencei

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

Q08188-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MAALGVQSIN WQTAFNRQAH HTDKFSSQEL ILRRGQNFQV LMIMNKGLGS 
        60         70         80         90        100
NERLEFIVST GPYPSESAMT KAVFPLSNGS SGGWSAVLQA SNGNTLTISI 
       110        120        130        140        150
SSPASAPIGR YTMALQIFSQ GGISSVKLGT FILLFNPWLN VDSVFMGNHA 
       160        170        180        190        200
EREEYVQEDA GIIFVGSTNR IGMIGWNFGQ FEEDILSICL SILDRSLNFR 
       210        220        230        240        250
RDAATDVASR NDPKYVGRVL SAMINSNDDN GVLAGNWSGT YTGGRDPRSW 
       260        270        280        290        300
NGSVEILKNW KKSGFSPVRY GQCWVFAGTL NTALRSLGIP SRVITNFNSA 
       310        320        330        340        350
HDTDRNLSVD VYYDPMGNPL DKGSDSVWNF HVWNEGWFVR SDLGPSYGGW 
       360        370        380        390        400
QVLDATPQER SQGVFQCGPA SVIGVREGDV QLNFDMPFIF AEVNADRITW 
       410        420        430        440        450
LYDNTTGKQW KNSVNSHTIG RYISTKAVGS NARMDVTDKY KYPEGSDQER 
       460        470        480        490        500
QVFQKALGKL KPNTPFAATS SMGLETEEQE PSIIGKLKVA GMLAVGKEVN 
       510        520        530        540        550
LVLLLKNLSR DTKTVTVNMT AWTIIYNGTL VHEVWKDSAT MSLDPEEEAE 
       560        570        580        590        600
HPIKISYAQY EKYLKSDNMI RITAVCKVPD ESEVVVERDI ILDNPTLTLE 
       610        620        630        640        650
VLNEARVRKP VNVQMLFSNP LDEPVRDCVL MVEGSGLLLG NLKIDVPTLG 
       660        670        680        690 
PKEGSRVRFD ILPSRSGTKQ LLADFSCNKF PAIKAMLSID VAE
Length:693
Mass (Da):76,632
Last modified:September 1, 2009 - v4
Checksum:iEAFAC0C9A8AA5FD6
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti58 – 59VS → DT in AAA61155 (PubMed:8099584).Curated2
Sequence conflicti251N → G in AAA61155 (PubMed:8099584).Curated1
Sequence conflicti324S → G in BAF84040 (PubMed:14702039).Curated1
Sequence conflicti346S → P in AAA61155 (PubMed:8099584).Curated1
Sequence conflicti674D → G in BAF84040 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_04006713T → K6 PublicationsCorresponds to variant dbSNP:rs214803Ensembl.1
Natural variantiVAR_040068163I → L1 PublicationCorresponds to variant dbSNP:rs6048066Ensembl.1
Natural variantiVAR_040069249S → N1 PublicationCorresponds to variant dbSNP:rs214814Ensembl.1
Natural variantiVAR_040070562K → R1 PublicationCorresponds to variant dbSNP:rs1042617Ensembl.1
Natural variantiVAR_040071654G → R5 PublicationsCorresponds to variant dbSNP:rs214830Ensembl.1
Natural variantiVAR_055360687L → M1 PublicationCorresponds to variant dbSNP:rs45581032Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L10386 mRNA Translation: AAA61155.1
AK290324 mRNA Translation: BAF83013.1
AK291351 mRNA Translation: BAF84040.1
AK315236 mRNA Translation: BAG37663.1
EF102483 Genomic DNA Translation: ABK41960.1
AL031678 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10601.1
CH471133 Genomic DNA Translation: EAX10602.1
BC109075 mRNA Translation: AAI09076.1
BC109076 mRNA Translation: AAI09077.1
CCDSiCCDS33435.1
PIRiA45991
RefSeqiNP_003236.3, NM_003245.3
UniGeneiHs.2022

Genome annotation databases

EnsembliENST00000381458; ENSP00000370867; ENSG00000125780
GeneIDi7053
KEGGihsa:7053
UCSCiuc002wfx.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
L10386 mRNA Translation: AAA61155.1
AK290324 mRNA Translation: BAF83013.1
AK291351 mRNA Translation: BAF84040.1
AK315236 mRNA Translation: BAG37663.1
EF102483 Genomic DNA Translation: ABK41960.1
AL031678 Genomic DNA No translation available.
CH471133 Genomic DNA Translation: EAX10601.1
CH471133 Genomic DNA Translation: EAX10602.1
BC109075 mRNA Translation: AAI09076.1
BC109076 mRNA Translation: AAI09077.1
CCDSiCCDS33435.1
PIRiA45991
RefSeqiNP_003236.3, NM_003245.3
UniGeneiHs.2022

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1L9MX-ray2.10A/B2-693[»]
1L9NX-ray2.10A/B2-693[»]
1NUDX-ray2.70A/B2-693[»]
1NUFX-ray2.70A2-693[»]
1NUGX-ray2.40A/B2-693[»]
ProteinModelPortaliQ08188
SMRiQ08188
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112911, 27 interactors
IntActiQ08188, 8 interactors
MINTiQ08188
STRINGi9606.ENSP00000370867

Chemistry databases

BindingDBiQ08188
ChEMBLiCHEMBL3363
DrugBankiDB01864 5'-Guanosine-Diphosphate-Monothiophosphate
DB03152 B-2-Octylglucoside
DB04315 Guanosine-5'-Diphosphate
DB01972 Guanosine-5'-Monophosphate
DB00130 L-Glutamine

PTM databases

iPTMnetiQ08188
PhosphoSitePlusiQ08188

Polymorphism and mutation databases

BioMutaiTGM3
DMDMi257051080

Proteomic databases

EPDiQ08188
MaxQBiQ08188
PaxDbiQ08188
PeptideAtlasiQ08188
PRIDEiQ08188
ProteomicsDBi58578
TopDownProteomicsiQ08188

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000381458; ENSP00000370867; ENSG00000125780
GeneIDi7053
KEGGihsa:7053
UCSCiuc002wfx.5 human

Organism-specific databases

CTDi7053
DisGeNETi7053
EuPathDBiHostDB:ENSG00000125780.11
GeneCardsiTGM3
HGNCiHGNC:11779 TGM3
HPAiHPA004728
MalaCardsiTGM3
MIMi600238 gene
617251 phenotype
neXtProtiNX_Q08188
OpenTargetsiENSG00000125780
PharmGKBiPA36492
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFMV Eukaryota
ENOG410XQEZ LUCA
GeneTreeiENSGT00760000119108
HOVERGENiHBG004342
InParanoidiQ08188
KOiK05620
OMAiKADNMIR
OrthoDBiEOG091G030K
PhylomeDBiQ08188
TreeFamiTF324278

Enzyme and pathway databases

BRENDAi2.3.2.13 2681

Miscellaneous databases

ChiTaRSiTGM3 human
EvolutionaryTraceiQ08188
GeneWikiiTGM3
GenomeRNAii7053
PROiPR:Q08188
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000125780 Expressed in 106 organ(s), highest expression level in lower esophagus mucosa
CleanExiHS_TGM3
GenevisibleiQ08188 HS

Family and domain databases

Gene3Di2.60.40.10, 3 hits
3.90.260.10, 1 hit
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR038765 Papain_like_cys_pep_sf
IPR002931 Transglutaminase-like
IPR036985 Transglutaminase-like_sf
IPR023608 Transglutaminase_animal
IPR013808 Transglutaminase_AS
IPR008958 Transglutaminase_C
IPR036238 Transglutaminase_C_sf
IPR001102 Transglutaminase_N
PfamiView protein in Pfam
PF00927 Transglut_C, 2 hits
PF01841 Transglut_core, 1 hit
PF00868 Transglut_N, 1 hit
PIRSFiPIRSF000459 TGM_EBP42, 1 hit
SMARTiView protein in SMART
SM00460 TGc, 1 hit
SUPFAMiSSF49309 SSF49309, 2 hits
SSF54001 SSF54001, 1 hit
SSF81296 SSF81296, 1 hit
PROSITEiView protein in PROSITE
PS00547 TRANSGLUTAMINASES, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTGM3_HUMAN
AccessioniPrimary (citable) accession number: Q08188
Secondary accession number(s): A8K5N6
, B2RCR6, D3DVX1, O95933, Q32ML9, Q32MM0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 1995
Last sequence update: September 1, 2009
Last modified: October 10, 2018
This is version 181 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human chromosome 20
    Human chromosome 20: entries, gene names and cross-references to MIM
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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