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O43548

- TGM5_HUMAN

UniProt

O43548 - TGM5_HUMAN

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
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    • History
      Entry version 132 (01 Oct 2014)
      Sequence version 4 (23 Jan 2007)
      Previous versions | rss
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    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

    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-SubCell

    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. 1 interaction.
    STRINGi9606.ENSP00000220420.

    Structurei

    3D structure databases

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

    Family & Domainsi

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG293974.
    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: O43548-1) [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

    MAQGLEVALT DLQSSRNNVR HHTEEITVDH LLVRRGQAFN LTLYFRNRSF    50
    QPGLDNIIFV VETGPLPDLA LGTRAVFSLA RHHSPSPWIA WLETNGATST 100
    EVSLCAPPTA AVGRYLLKIH IDSFQGSVTA YQLGEFILLF NPWCPEDAVY 150
    LDSEPQRQEY VMNDYGFIYQ GSKNWIRPCP WNYGQFEDKI IDICLKLLDK 200
    SLHFQTDPAT DCALRGSPVY VSRVVCAMIN SNDDNGVLNG NWSENYTDGA 250
    NPAEWTGSVA ILKQWNATGC QPVRYGQCWV FAAVMCTVMR CLGIPTRVIT 300
    NFDSGHDTDG NLIIDEYYDN TGRILGNKKK DTIWNFHVWN ECWMARKDLP 350
    PAYGGWQVLD ATPQEMSNGV YCCGPASVRA IKEGEVDLNY DTPFVFSMVN 400
    ADCMSWLVQG GKEQKLHQDT SSVGNFISTK SIQSDERDDI TENYKYEEGS 450
    LQERQVFLKA LQKLKARSFH GSQRGAELQP SRPTSLSQDS PRSLHTPSLR 500
    PSDVVQVSLK FKLLDPPNMG QDICFVLLAL NMSSQFKDLK VNLSAQSLLH 550
    DGSPLSPFWQ DTAFITLSPK EAKTYPCKIS YSQYSQYLST DKLIRISALG 600
    EEKSSPEKIL VNKIITLSYP SITINVLGAA VVNQPLSIQV IFSNPLSEQV 650
    EDCVLTVEGS GLFKKQQKVF LGVLKPQHQA SIILETVPFK SGQRQIQANM 700
    RSNKFKDIKG YRNVYVDFAL 720
    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. 1 interaction.
    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.
    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

    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 1, 2014
    This is version 132 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