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Protein

Protein-glutamine gamma-glutamyltransferase 5

Gene

TGM5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes.

Catalytic activityi

Protein glutamine + alkylamine = protein N(5)-alkylglutamine + NH3.PROSITE-ProRule annotation

Cofactori

Ca2+By similarityNote: Binds 1 Ca2+ ion per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Active sitei278PROSITE-ProRule annotation1
Active sitei337PROSITE-ProRule annotation1
Active sitei360PROSITE-ProRule annotation1
Metal bindingi400CalciumBy similarity1
Metal bindingi402CalciumBy similarity1
Metal bindingi448CalciumBy similarity1
Metal bindingi453CalciumBy similarity1

GO - Molecular functioni

  • metal ion binding Source: UniProtKB-KW
  • protein-glutamine gamma-glutamyltransferase activity Source: ProtInc

GO - Biological processi

  • cellular protein modification process Source: ProtInc
  • epidermis development Source: ProtInc
  • peptide cross-linking Source: InterPro
Complete GO annotation...

Keywords - Molecular functioni

Acyltransferase, Transferase

Keywords - Ligandi

Calcium, Metal-binding

Enzyme and pathway databases

BioCyciZFISH:HS02541-MONOMER.
ReactomeiR-HSA-6809371. Formation of the cornified envelope.

Names & Taxonomyi

Protein namesi
Recommended name:
Protein-glutamine gamma-glutamyltransferase 5 (EC:2.3.2.13)
Alternative name(s):
Transglutaminase X
Short name:
TG(X)
Short name:
TGX
Short name:
TGase X
Transglutaminase-5
Short name:
TGase-5
Gene namesi
Name:TGM5
Synonyms:TGMX
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

HGNCiHGNC:11781. TGM5.

Subcellular locationi

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Peeling skin syndrome 2 (PSS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In PSS2 patients, skin peeling is painless and strictly limited to the dorsa of the hands and feet. It is accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction.
See also OMIM:609796
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_025849113G → C in PSS2; completely abolishes the enzyme activity. 1 PublicationCorresponds to variant rs112292549dbSNPEnsembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi9333.
MalaCardsiTGM5.
MIMi609796. phenotype.
OpenTargetsiENSG00000104055.
Orphaneti263534. Acral peeling skin syndrome.
PharmGKBiPA36494.

Chemistry databases

DrugBankiDB00130. L-Glutamine.

Polymorphism and mutation databases

BioMutaiTGM5.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Initiator methionineiRemoved1 Publication
ChainiPRO_00002137132 – 720Protein-glutamine gamma-glutamyltransferase 5Add BLAST719

Amino acid modifications

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

Keywords - PTMi

Acetylation

Proteomic databases

MaxQBiO43548.
PaxDbiO43548.
PeptideAtlasiO43548.
PRIDEiO43548.

PTM databases

iPTMnetiO43548.
PhosphoSitePlusiO43548.

Expressioni

Tissue specificityi

Expressed in foreskin keratinocytes.

Inductioni

By 12-O-tetradecanoylphorbol-13-acetate (TPA) and calcium in NHEK cells.1 Publication

Gene expression databases

BgeeiENSG00000104055.
CleanExiHS_TGM5.
ExpressionAtlasiO43548. baseline and differential.
GenevisibleiO43548. HS.

Organism-specific databases

HPAiHPA041649.

Interactioni

Protein-protein interaction databases

BioGridi114742. 11 interactors.
IntActiO43548. 1 interactor.
STRINGi9606.ENSP00000220420.

Structurei

3D structure databases

ProteinModelPortaliO43548.
SMRiO43548.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiENOG410IFMV. Eukaryota.
ENOG410XQEZ. LUCA.
GeneTreeiENSGT00760000119108.
HOGENOMiHOG000231695.
HOVERGENiHBG004342.
InParanoidiO43548.
KOiK05622.
PhylomeDBiO43548.
TreeFamiTF324278.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
3.90.260.10. 1 hit.
InterProiIPR023608. Gln_gamma-glutamylTfrase_euk.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
IPR002931. Transglutaminase-like.
IPR013808. Transglutaminase_AS.
IPR008958. Transglutaminase_C.
IPR001102. Transglutaminase_N.
[Graphical view]
PANTHERiPTHR11590. PTHR11590. 2 hits.
PfamiPF00927. Transglut_C. 2 hits.
PF01841. Transglut_core. 1 hit.
PF00868. Transglut_N. 1 hit.
[Graphical view]
PIRSFiPIRSF000459. TGM_EBP42. 1 hit.
SMARTiSM00460. TGc. 1 hit.
[Graphical view]
SUPFAMiSSF49309. SSF49309. 2 hits.
SSF81296. SSF81296. 1 hit.
PROSITEiPS00547. TRANSGLUTAMINASES. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

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

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Long (identifier: O43548-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MAQGLEVALT DLQSSRNNVR HHTEEITVDH LLVRRGQAFN LTLYFRNRSF
60 70 80 90 100
QPGLDNIIFV VETGPLPDLA LGTRAVFSLA RHHSPSPWIA WLETNGATST
110 120 130 140 150
EVSLCAPPTA AVGRYLLKIH IDSFQGSVTA YQLGEFILLF NPWCPEDAVY
160 170 180 190 200
LDSEPQRQEY VMNDYGFIYQ GSKNWIRPCP WNYGQFEDKI IDICLKLLDK
210 220 230 240 250
SLHFQTDPAT DCALRGSPVY VSRVVCAMIN SNDDNGVLNG NWSENYTDGA
260 270 280 290 300
NPAEWTGSVA ILKQWNATGC QPVRYGQCWV FAAVMCTVMR CLGIPTRVIT
310 320 330 340 350
NFDSGHDTDG NLIIDEYYDN TGRILGNKKK DTIWNFHVWN ECWMARKDLP
360 370 380 390 400
PAYGGWQVLD ATPQEMSNGV YCCGPASVRA IKEGEVDLNY DTPFVFSMVN
410 420 430 440 450
ADCMSWLVQG GKEQKLHQDT SSVGNFISTK SIQSDERDDI TENYKYEEGS
460 470 480 490 500
LQERQVFLKA LQKLKARSFH GSQRGAELQP SRPTSLSQDS PRSLHTPSLR
510 520 530 540 550
PSDVVQVSLK FKLLDPPNMG QDICFVLLAL NMSSQFKDLK VNLSAQSLLH
560 570 580 590 600
DGSPLSPFWQ DTAFITLSPK EAKTYPCKIS YSQYSQYLST DKLIRISALG
610 620 630 640 650
EEKSSPEKIL VNKIITLSYP SITINVLGAA VVNQPLSIQV IFSNPLSEQV
660 670 680 690 700
EDCVLTVEGS GLFKKQQKVF LGVLKPQHQA SIILETVPFK SGQRQIQANM
710 720
RSNKFKDIKG YRNVYVDFAL
Length:720
Mass (Da):80,778
Last modified:January 23, 2007 - v4
Checksum:i9CF68884B48BAE1C
GO
Isoform Short (identifier: O43548-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     64-145: Missing.

Show »
Length:638
Mass (Da):71,919
Checksum:i8BCA7AAE9430D220
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01324867P → S.1 PublicationCorresponds to variant rs757598618dbSNPEnsembl.1
Natural variantiVAR_025848109T → M.1 PublicationCorresponds to variant rs113463533dbSNPEnsembl.1
Natural variantiVAR_025849113G → C in PSS2; completely abolishes the enzyme activity. 1 PublicationCorresponds to variant rs112292549dbSNPEnsembl.1
Natural variantiVAR_013249352A → G.1 PublicationCorresponds to variant rs28756768dbSNPEnsembl.1
Natural variantiVAR_052564504V → M.Corresponds to variant rs7171797dbSNPEnsembl.1
Natural variantiVAR_052565521Q → R.Corresponds to variant rs35985214dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00641564 – 145Missing in isoform Short. 1 PublicationAdd BLAST82

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF035960 mRNA. Translation: AAC02978.1.
AF035961 mRNA. Translation: AAC02979.1.
AF206510
, AF206502, AF206503, AF206504, AF206505, AF206506, AF206507, AF206508, AF206509 Genomic DNA. Translation: AAF23981.1.
BC119009 mRNA. Translation: AAI19010.1.
CCDSiCCDS32211.1. [O43548-2]
CCDS32212.1. [O43548-1]
RefSeqiNP_004236.1. NM_004245.3. [O43548-2]
NP_963925.2. NM_201631.3. [O43548-1]
UniGeneiHs.129719.

Genome annotation databases

EnsembliENST00000220420; ENSP00000220420; ENSG00000104055. [O43548-1]
ENST00000349114; ENSP00000220419; ENSG00000104055. [O43548-2]
GeneIDi9333.
KEGGihsa:9333.
UCSCiuc001zrd.2. human. [O43548-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF035960 mRNA. Translation: AAC02978.1.
AF035961 mRNA. Translation: AAC02979.1.
AF206510
, AF206502, AF206503, AF206504, AF206505, AF206506, AF206507, AF206508, AF206509 Genomic DNA. Translation: AAF23981.1.
BC119009 mRNA. Translation: AAI19010.1.
CCDSiCCDS32211.1. [O43548-2]
CCDS32212.1. [O43548-1]
RefSeqiNP_004236.1. NM_004245.3. [O43548-2]
NP_963925.2. NM_201631.3. [O43548-1]
UniGeneiHs.129719.

3D structure databases

ProteinModelPortaliO43548.
SMRiO43548.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114742. 11 interactors.
IntActiO43548. 1 interactor.
STRINGi9606.ENSP00000220420.

Chemistry databases

DrugBankiDB00130. L-Glutamine.

PTM databases

iPTMnetiO43548.
PhosphoSitePlusiO43548.

Polymorphism and mutation databases

BioMutaiTGM5.

Proteomic databases

MaxQBiO43548.
PaxDbiO43548.
PeptideAtlasiO43548.
PRIDEiO43548.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000220420; ENSP00000220420; ENSG00000104055. [O43548-1]
ENST00000349114; ENSP00000220419; ENSG00000104055. [O43548-2]
GeneIDi9333.
KEGGihsa:9333.
UCSCiuc001zrd.2. human. [O43548-1]

Organism-specific databases

CTDi9333.
DisGeNETi9333.
GeneCardsiTGM5.
HGNCiHGNC:11781. TGM5.
HPAiHPA041649.
MalaCardsiTGM5.
MIMi603805. gene.
609796. phenotype.
neXtProtiNX_O43548.
OpenTargetsiENSG00000104055.
Orphaneti263534. Acral peeling skin syndrome.
PharmGKBiPA36494.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFMV. Eukaryota.
ENOG410XQEZ. LUCA.
GeneTreeiENSGT00760000119108.
HOGENOMiHOG000231695.
HOVERGENiHBG004342.
InParanoidiO43548.
KOiK05622.
PhylomeDBiO43548.
TreeFamiTF324278.

Enzyme and pathway databases

BioCyciZFISH:HS02541-MONOMER.
ReactomeiR-HSA-6809371. Formation of the cornified envelope.

Miscellaneous databases

GenomeRNAii9333.
PROiO43548.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104055.
CleanExiHS_TGM5.
ExpressionAtlasiO43548. baseline and differential.
GenevisibleiO43548. HS.

Family and domain databases

Gene3Di2.60.40.10. 3 hits.
3.90.260.10. 1 hit.
InterProiIPR023608. Gln_gamma-glutamylTfrase_euk.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
IPR002931. Transglutaminase-like.
IPR013808. Transglutaminase_AS.
IPR008958. Transglutaminase_C.
IPR001102. Transglutaminase_N.
[Graphical view]
PANTHERiPTHR11590. PTHR11590. 2 hits.
PfamiPF00927. Transglut_C. 2 hits.
PF01841. Transglut_core. 1 hit.
PF00868. Transglut_N. 1 hit.
[Graphical view]
PIRSFiPIRSF000459. TGM_EBP42. 1 hit.
SMARTiSM00460. TGc. 1 hit.
[Graphical view]
SUPFAMiSSF49309. SSF49309. 2 hits.
SSF81296. SSF81296. 1 hit.
PROSITEiPS00547. TRANSGLUTAMINASES. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTGM5_HUMAN
AccessioniPrimary (citable) accession number: O43548
Secondary accession number(s): O43549, Q0VF40, Q9UEZ4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 23, 2007
Last modified: November 30, 2016
This is version 151 of the entry and version 4 of the sequence. [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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.