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Protein

Protein-glutamine gamma-glutamyltransferase 5

Gene

TGM5

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

A protein-L-glutamine + a protein-L-lysine = a protein with an N6-(gamma-glutamyl)-L-lysine cross-link + 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

GO - Biological processi

  • cellular protein modification process Source: ProtInc
  • cornification Source: Reactome
  • epidermis development Source: ProtInc
  • peptide cross-linking Source: InterPro

Keywordsi

Molecular functionAcyltransferase, Transferase
LigandCalcium, Metal-binding

Enzyme and pathway databases

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

EuPathDBiHostDB:ENSG00000104055.14
HGNCiHGNC:11781 TGM5
MIMi603805 gene
neXtProtiNX_O43548

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

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 dbSNP:rs112292549EnsemblClinVar.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
ProteomicsDBi49043
49044 [O43548-2]

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 Expressed in 117 organ(s), highest expression level in skin of abdomen
CleanExiHS_TGM5
ExpressionAtlasiO43548 baseline and differential
GenevisibleiO43548 HS

Interactioni

Protein-protein interaction databases

BioGridi114742, 13 interactors
IntActiO43548, 5 interactors
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
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

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

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WVS3A0A087WVS3_HUMAN
Protein-glutamine gamma-glutamyltra...
TGM5
721Annotation score:
A0A087WVW4A0A087WVW4_HUMAN
Protein-glutamine gamma-glutamyltra...
TGM5
719Annotation score:
A0A087WZC4A0A087WZC4_HUMAN
Protein-glutamine gamma-glutamyltra...
TGM5
637Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01324867P → S1 PublicationCorresponds to variant dbSNP:rs757598618Ensembl.1
Natural variantiVAR_025848109T → M1 PublicationCorresponds to variant dbSNP:rs113463533EnsemblClinVar.1
Natural variantiVAR_025849113G → C in PSS2; completely abolishes the enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs112292549EnsemblClinVar.1
Natural variantiVAR_013249352A → G1 PublicationCorresponds to variant dbSNP:rs28756768EnsemblClinVar.1
Natural variantiVAR_052564504V → M. Corresponds to variant dbSNP:rs7171797EnsemblClinVar.1
Natural variantiVAR_052565521Q → R. Corresponds to variant dbSNP:rs35985214EnsemblClinVar.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

Similar proteinsi

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, 13 interactors
IntActiO43548, 5 interactors
STRINGi9606.ENSP00000220420

Chemistry databases

DrugBankiDB00130 L-Glutamine

PTM databases

iPTMnetiO43548
PhosphoSitePlusiO43548

Polymorphism and mutation databases

BioMutaiTGM5

Proteomic databases

MaxQBiO43548
PaxDbiO43548
PeptideAtlasiO43548
PRIDEiO43548
ProteomicsDBi49043
49044 [O43548-2]

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
EuPathDBiHostDB:ENSG00000104055.14
GeneCardsiTGM5
HGNCiHGNC:11781 TGM5
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

ReactomeiR-HSA-6809371 Formation of the cornified envelope

Miscellaneous databases

ChiTaRSiTGM5 human
GenomeRNAii9333
PROiPR:O43548
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000104055 Expressed in 117 organ(s), highest expression level in skin of abdomen
CleanExiHS_TGM5
ExpressionAtlasiO43548 baseline and differential
GenevisibleiO43548 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 nameiTGM5_HUMAN
AccessioniPrimary (citable) accession number: O43548
Secondary accession number(s): O43549, Q0VF40, Q9UEZ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 23, 2007
Last modified: September 12, 2018
This is version 162 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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