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O43548

- TGM5_HUMAN

UniProt

O43548 - TGM5_HUMAN

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Protein

Protein-glutamine gamma-glutamyltransferase 5

Gene

TGM5

Organism
Homo sapiens (Human)
Status
Reviewed - 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

Binds 1 calcium ion per subunit.By similarity

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Active sitei278 – 2781PROSITE-ProRule annotation
Active sitei337 – 3371PROSITE-ProRule annotation
Active sitei360 – 3601PROSITE-ProRule annotation
Metal bindingi400 – 4001CalciumBy similarity
Metal bindingi402 – 4021CalciumBy similarity
Metal bindingi448 – 4481CalciumBy similarity
Metal bindingi453 – 4531CalciumBy similarity

GO - Molecular functioni

  1. metal ion binding Source: UniProtKB-KW
  2. protein-glutamine gamma-glutamyltransferase activity Source: ProtInc

GO - Biological processi

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

Keywords - Molecular functioni

Acyltransferase, Transferase

Keywords - Ligandi

Calcium, Metal-binding

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
ProteomesiUP000005640: Chromosome 15

Organism-specific databases

HGNCiHGNC:11781. TGM5.

Subcellular locationi

Cytoplasm 1 Publication
Note: Associated with intermediate filaments.

GO - Cellular componenti

  1. cytoplasm Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Peeling skin syndrome, acral type (APSS) [MIM:609796]: A non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In APSS 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti113 – 1131G → C in APSS; completely abolishes the enzyme activity. 1 Publication
Corresponds to variant rs112292549 [ dbSNP | Ensembl ].
VAR_025849

Keywords - Diseasei

Disease mutation

Organism-specific databases

MIMi609796. phenotype.
Orphaneti263534. Acral peeling skin syndrome.
PharmGKBiPA36494.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Initiator methioninei1 – 11Removed1 Publication
Chaini2 – 720719Protein-glutamine gamma-glutamyltransferase 5PRO_0000213713Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei2 – 21N-acetylalanine1 Publication

Keywords - PTMi

Acetylation

Proteomic databases

PaxDbiO43548.
PRIDEiO43548.

PTM databases

PhosphoSiteiO43548.

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

BgeeiO43548.
CleanExiHS_TGM5.
GenevestigatoriO43548.

Organism-specific databases

HPAiHPA041649.

Interactioni

Protein-protein interaction databases

BioGridi114742. 2 interactions.
STRINGi9606.ENSP00000220420.

Structurei

3D structure databases

ProteinModelPortaliO43548.
SMRiO43548. Positions 4-716.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiNOG293974.
GeneTreeiENSGT00760000119108.
HOGENOMiHOG000231695.
HOVERGENiHBG004342.
InParanoidiO43548.
KOiK05622.
OMAiGVLNGNW.
OrthoDBiEOG7WT40M.
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.
IPR008958. Transglutaminase_C.
IPR013808. Transglutaminase_CS.
IPR001102. Transglutaminase_N.
[Graphical view]
PANTHERiPTHR11590. PTHR11590. 1 hit.
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. Align

Isoform Long (identifier: O43548) [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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti67 – 671P → S.1 Publication
VAR_013248
Natural varianti109 – 1091T → M.1 Publication
Corresponds to variant rs113463533 [ dbSNP | Ensembl ].
VAR_025848
Natural varianti113 – 1131G → C in APSS; completely abolishes the enzyme activity. 1 Publication
Corresponds to variant rs112292549 [ dbSNP | Ensembl ].
VAR_025849
Natural varianti352 – 3521A → G.1 Publication
Corresponds to variant rs28756768 [ dbSNP | Ensembl ].
VAR_013249
Natural varianti504 – 5041V → M.
Corresponds to variant rs7171797 [ dbSNP | Ensembl ].
VAR_052564
Natural varianti521 – 5211Q → R.
Corresponds to variant rs35985214 [ dbSNP | Ensembl ].
VAR_052565

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei64 – 14582Missing in isoform Short. 1 PublicationVSP_006415Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
UCSCiuc001zrc.2. human. [O43548-1]
uc001zre.2. human. [O43548-2]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS32211.1. [O43548-2 ]
CCDS32212.1. [O43548-1 ]
RefSeqi NP_004236.1. NM_004245.3. [O43548-2 ]
NP_963925.2. NM_201631.3. [O43548-1 ]
UniGenei Hs.129719.

3D structure databases

ProteinModelPortali O43548.
SMRi O43548. Positions 4-716.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 114742. 2 interactions.
STRINGi 9606.ENSP00000220420.

Chemistry

DrugBanki DB00130. L-Glutamine.

PTM databases

PhosphoSitei O43548.

Proteomic databases

PaxDbi O43548.
PRIDEi O43548.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000220420 ; ENSP00000220420 ; ENSG00000104055 . [O43548-1 ]
ENST00000349114 ; ENSP00000220419 ; ENSG00000104055 . [O43548-2 ]
GeneIDi 9333.
KEGGi hsa:9333.
UCSCi uc001zrc.2. human. [O43548-1 ]
uc001zre.2. human. [O43548-2 ]

Organism-specific databases

CTDi 9333.
GeneCardsi GC15M043527.
HGNCi HGNC:11781. TGM5.
HPAi HPA041649.
MIMi 603805. gene.
609796. phenotype.
neXtProti NX_O43548.
Orphaneti 263534. Acral peeling skin syndrome.
PharmGKBi PA36494.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG293974.
GeneTreei ENSGT00760000119108.
HOGENOMi HOG000231695.
HOVERGENi HBG004342.
InParanoidi O43548.
KOi K05622.
OMAi GVLNGNW.
OrthoDBi EOG7WT40M.
PhylomeDBi O43548.
TreeFami TF324278.

Miscellaneous databases

GenomeRNAii 9333.
NextBioi 34961.
PROi O43548.
SOURCEi Search...

Gene expression databases

Bgeei O43548.
CleanExi HS_TGM5.
Genevestigatori O43548.

Family and domain databases

Gene3Di 2.60.40.10. 3 hits.
3.90.260.10. 1 hit.
InterProi IPR023608. Gln_gamma-glutamylTfrase_euk.
IPR013783. Ig-like_fold.
IPR014756. Ig_E-set.
IPR002931. Transglutaminase-like.
IPR008958. Transglutaminase_C.
IPR013808. Transglutaminase_CS.
IPR001102. Transglutaminase_N.
[Graphical view ]
PANTHERi PTHR11590. PTHR11590. 1 hit.
Pfami PF00927. Transglut_C. 2 hits.
PF01841. Transglut_core. 1 hit.
PF00868. Transglut_N. 1 hit.
[Graphical view ]
PIRSFi PIRSF000459. TGM_EBP42. 1 hit.
SMARTi SM00460. TGc. 1 hit.
[Graphical view ]
SUPFAMi SSF49309. SSF49309. 2 hits.
SSF81296. SSF81296. 1 hit.
PROSITEi PS00547. TRANSGLUTAMINASES. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Isolation of a cDNA encoding a novel member of the transglutaminase gene family from human keratinocytes. Detection and identification of transglutaminase gene products based on reverse transcription-polymerase chain reaction with degenerate primers."
    Aeschlimann D., Koeller M.K., Allen-Hoffmann B.L., Mosher D.F.
    J. Biol. Chem. 273:3452-3460(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS LONG AND SHORT).
    Tissue: Foreskin.
  2. "Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z."
    Grenard P., Bates M.K., Aeschlimann D.
    J. Biol. Chem. 276:33066-33078(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS SER-67 AND GLY-352.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM LONG).
  4. Cited for: PROTEIN SEQUENCE OF 2-16, SUBCELLULAR LOCATION, ACETYLATION AT ALA-2, INDUCTION BY TPA AND CALCIUM, IDENTIFICATION BY MASS SPECTROMETRY.
  5. "A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome."
    Cassidy A.J., van Steensel M.A.M., Steijlen P.M., van Geel M., van der Velden J., Morley S.M., Terrinoni A., Melino G., Candi E., McLean W.H.I.
    Am. J. Hum. Genet. 77:909-917(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT APSS CYS-113, VARIANT MET-109, CHARACTERIZATION OF VARIANT APSS CYS-113, CHARACTERIZATION OF VARIANT MET-109.

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: October 29, 2014
This is version 133 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

External Data

Dasty 3