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P22735

- TGM1_HUMAN

UniProt

P22735 - TGM1_HUMAN

Protein

Protein-glutamine gamma-glutamyltransferase K

Gene

TGM1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 156 (01 Oct 2014)
      Sequence version 4 (04 Jan 2005)
      Previous versions | rss
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    Functioni

    Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross-linking epidermal proteins during formation of the stratum corneum.

    Catalytic activityi

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

    Cofactori

    Binds 1 calcium ion per subunit.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei377 – 3771PROSITE-ProRule annotation
    Active sitei436 – 4361PROSITE-ProRule annotation
    Active sitei459 – 4591PROSITE-ProRule annotation
    Metal bindingi499 – 4991CalciumBy similarity
    Metal bindingi501 – 5011CalciumBy similarity
    Metal bindingi548 – 5481CalciumBy similarity
    Metal bindingi553 – 5531CalciumBy similarity

    GO - Molecular functioni

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

    GO - Biological processi

    1. cell envelope organization Source: UniProtKB
    2. cellular protein modification process Source: UniProtKB
    3. keratinization Source: UniProtKB-KW
    4. keratinocyte differentiation Source: UniProtKB
    5. organ morphogenesis Source: Ensembl
    6. peptide cross-linking Source: InterPro

    Keywords - Molecular functioni

    Acyltransferase, Transferase

    Keywords - Biological processi

    Keratinization

    Keywords - Ligandi

    Calcium, Metal-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Protein-glutamine gamma-glutamyltransferase K (EC:2.3.2.13)
    Alternative name(s):
    Epidermal TGase
    Transglutaminase K
    Short name:
    TG(K)
    Short name:
    TGK
    Short name:
    TGase K
    Transglutaminase-1
    Short name:
    TGase-1
    Gene namesi
    Name:TGM1
    Synonyms:KTG
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 14

    Organism-specific databases

    HGNCiHGNC:11777. TGM1.

    Subcellular locationi

    GO - Cellular componenti

    1. cell-cell adherens junction Source: Ensembl
    2. cornified envelope Source: UniProtKB
    3. extracellular vesicular exosome Source: UniProt
    4. intrinsic component of membrane Source: UniProtKB

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Ichthyosis, congenital, autosomal recessive 1 (ARCI1) [MIM:242300]: A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.6 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti42 – 421S → Y in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 Publications
    Corresponds to variant rs41295338 [ dbSNP | Ensembl ].
    VAR_015220
    Natural varianti53 – 531C → S in ARCI1.
    VAR_058638
    Natural varianti94 – 941G → D in ARCI1.
    Corresponds to variant rs121918729 [ dbSNP | Ensembl ].
    VAR_058639
    Natural varianti102 – 1021D → V in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
    VAR_020918
    Natural varianti126 – 1261R → C in ARCI1.
    VAR_058640
    Natural varianti126 – 1261R → H in ARCI1.
    VAR_058641
    Natural varianti134 – 1341Y → C in ARCI1.
    VAR_058642
    Natural varianti142 – 1421R → C in ARCI1.
    VAR_058643
    Natural varianti142 – 1421R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 Publications
    VAR_007476
    Natural varianti142 – 1421R → P in ARCI1.
    VAR_058644
    Natural varianti143 – 1431R → C in ARCI1. 1 Publication
    VAR_007477
    Natural varianti143 – 1431R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
    VAR_007478
    Natural varianti144 – 1441G → E in ARCI1.
    VAR_058645
    Natural varianti144 – 1441G → R in ARCI1.
    VAR_058646
    Natural varianti160 – 1601S → C in ARCI1.
    VAR_058647
    Natural varianti205 – 2051L → Q in ARCI1.
    VAR_058648
    Natural varianti209 – 2091V → F in ARCI1.
    VAR_058649
    Natural varianti218 – 2181G → S in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
    VAR_007479
    Natural varianti225 – 2251R → H in ARCI1.
    VAR_058650
    Natural varianti225 – 2251R → P in ARCI1.
    VAR_058651
    Natural varianti243 – 2431I → S in ARCI1.
    VAR_058652
    Natural varianti249 – 2491P → L in ARCI1.
    VAR_058653
    Natural varianti264 – 2641R → Q in ARCI1.
    VAR_058654
    Natural varianti264 – 2641R → W in ARCI1.
    VAR_058655
    Natural varianti272 – 2721S → P in ARCI1.
    VAR_058656
    Natural varianti276 – 2761Y → N in ARCI1.
    VAR_058657
    Natural varianti278 – 2781G → R in ARCI1.
    VAR_058658
    Natural varianti285 – 2851E → K in ARCI1.
    VAR_058659
    Natural varianti286 – 2861R → Q in ARCI1.
    VAR_058660
    Natural varianti289 – 2891N → T in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
    VAR_020919
    Natural varianti293 – 2931F → V in ARCI1.
    VAR_058661
    Natural varianti304 – 3041I → F in ARCI1.
    VAR_058662
    Natural varianti307 – 3071R → G in ARCI1. 1 Publication
    Corresponds to variant rs121918731 [ dbSNP | Ensembl ].
    VAR_058663
    Natural varianti307 – 3071R → W in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
    VAR_020920
    Natural varianti315 – 3151R → C in ARCI1.
    VAR_058664
    Natural varianti315 – 3151R → H in ARCI1.
    VAR_058665
    Natural varianti315 – 3151R → L in ARCI1.
    VAR_058666
    Natural varianti323 – 3231R → Q in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
    VAR_015221
    Natural varianti323 – 3231R → W in ARCI1.
    VAR_058667
    Natural varianti330 – 3301N → H in ARCI1.
    VAR_058668
    Natural varianti331 – 3311S → P in ARCI1.
    VAR_058669
    Natural varianti342 – 3421W → R in ARCI1.
    VAR_058670
    Natural varianti358 – 3581S → R in ARCI1.
    VAR_058671
    Natural varianti359 – 3591V → M in ARCI1.
    VAR_058672
    Natural varianti365 – 3651Y → D in ARCI1.
    VAR_058673
    Natural varianti366 – 3661L → P in ARCI1.
    VAR_058674
    Natural varianti379 – 3791V → L in ARCI1. 1 Publication
    VAR_007480
    Natural varianti382 – 3821G → R in ARCI1.
    VAR_058675
    Natural varianti383 – 3831V → M in ARCI1.
    VAR_058676
    Natural varianti389 – 3891R → H in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
    VAR_015222
    Natural varianti389 – 3891R → P in ARCI1.
    VAR_058677
    Natural varianti392 – 3921G → D in ARCI1.
    VAR_058678
    Natural varianti396 – 3961R → H in ARCI1.
    VAR_058679
    Natural varianti396 – 3961R → L in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
    Corresponds to variant rs121918721 [ dbSNP | Ensembl ].
    VAR_007481
    Natural varianti396 – 3961R → S in ARCI1.
    VAR_058680
    Natural varianti401 – 4011F → V in ARCI1.
    VAR_058681
    Natural varianti430 – 4301D → V in ARCI1.
    VAR_058682
    Natural varianti473 – 4731G → S in ARCI1.
    VAR_058683
    Natural varianti490 – 4901D → G in ARCI1.
    VAR_058684
    Natural varianti520 – 5201E → G in ARCI1.
    Corresponds to variant rs142404759 [ dbSNP | Ensembl ].
    VAR_058685
    Natural varianti544 – 5441Y → C in ARCI1.
    VAR_058686
    Natural varianti687 – 6871R → C in ARCI1.
    VAR_058687
    Natural varianti687 – 6871R → H in ARCI1.
    VAR_058688
    Natural varianti764 – 7641R → C in ARCI1.
    VAR_058689

    Keywords - Diseasei

    Disease mutation, Ichthyosis

    Organism-specific databases

    MIMi242300. phenotype.
    Orphaneti281127. Acral self-healing collodion baby.
    100976. Bathing suit ichthyosis.
    79394. Congenital non-bullous ichthyosiform erythroderma.
    313. Lamellar ichthyosis.
    281122. Self-healing collodion baby.
    PharmGKBiPA36490.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 817817Protein-glutamine gamma-glutamyltransferase KPRO_0000213701Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei24 – 241Phosphoserine1 Publication
    Modified residuei82 – 821Phosphoserine1 Publication
    Modified residuei85 – 851Phosphoserine1 Publication
    Modified residuei92 – 921Phosphoserine1 Publication
    Modified residuei95 – 951PhosphoserineBy similarity

    Post-translational modificationi

    The membrane anchorage region possesses a cluster of five cysteines within which fatty acid(s) may become thioester-linked. It is subject to phorbol ester-stimulated phosphorylation and is hypersensitive to proteolysis, which releases the enzyme in a soluble form.1 Publication

    Keywords - PTMi

    Lipoprotein, Phosphoprotein

    Proteomic databases

    MaxQBiP22735.
    PaxDbiP22735.
    PeptideAtlasiP22735.
    PRIDEiP22735.

    PTM databases

    PhosphoSiteiP22735.

    Expressioni

    Gene expression databases

    ArrayExpressiP22735.
    BgeeiP22735.
    CleanExiHS_TGM1.
    GenevestigatoriP22735.

    Organism-specific databases

    HPAiCAB015159.
    HPA040171.

    Interactioni

    Protein-protein interaction databases

    BioGridi112909. 4 interactions.
    IntActiP22735. 5 interactions.
    STRINGi9606.ENSP00000206765.

    Structurei

    Secondary structure

    1
    817
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi693 – 6997
    Beta strandi703 – 7053
    Beta strandi707 – 7148
    Beta strandi717 – 7193
    Beta strandi723 – 7308
    Turni731 – 7333
    Beta strandi734 – 7418
    Beta strandi749 – 7568
    Beta strandi767 – 7715
    Helixi773 – 7764

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    2XZZX-ray2.30A693-787[»]
    ProteinModelPortaliP22735.
    SMRiP22735. Positions 110-787.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni1 – 100100Membrane anchorage regionAdd
    BLAST

    Sequence similaritiesi

    Phylogenomic databases

    eggNOGiNOG80379.
    HOGENOMiHOG000231695.
    HOVERGENiHBG004342.
    InParanoidiP22735.
    KOiK05619.
    OMAiGRWGGNP.
    OrthoDBiEOG7WT40M.
    PhylomeDBiP22735.
    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]

    Sequencei

    Sequence statusi: Complete.

    P22735-1 [UniParc]FASTAAdd to Basket

    « Hide

    MMDGPRSDVG RWGGNPLQPP TTPSPEPEPE PDGRSRRGGG RSFWARCCGC    50
    CSCRNAADDD WGPEPSDSRG RGSSSGTRRP GSRGSDSRRP VSRGSGVNAA 100
    GDGTIREGML VVNGVDLLSS RSDQNRREHH TDEYEYDELI VRRGQPFHML 150
    LLLSRTYESS DRITLELLIG NNPEVGKGTH VIIPVGKGGS GGWKAQVVKA 200
    SGQNLNLRVH TSPNAIIGKF QFTVRTQSDA GEFQLPFDPR NEIYILFNPW 250
    CPEDIVYVDH EDWRQEYVLN ESGRIYYGTE AQIGERTWNY GQFDHGVLDA 300
    CLYILDRRGM PYGGRGDPVN VSRVISAMVN SLDDNGVLIG NWSGDYSRGT 350
    NPSAWVGSVE ILLSYLRTGY SVPYGQCWVF AGVTTTVLRC LGLATRTVTN 400
    FNSAHDTDTS LTMDIYFDEN MKPLEHLNHD SVWNFHVWND CWMKRPDLPS 450
    GFDGWQVVDA TPQETSSGIF CCGPCSVESI KNGLVYMKYD TPFIFAEVNS 500
    DKVYWQRQDD GSFKIVYVEE KAIGTLIVTK AISSNMREDI TYLYKHPEGS 550
    DAERKAVETA AAHGSKPNVY ANRGSAEDVA MQVEAQDAVM GQDLMVSVML 600
    INHSSSRRTV KLHLYLSVTF YTGVSGTIFK ETKKEVELAP GASDRVTMPV 650
    AYKEYRPHLV DQGAMLLNVS GHVKESGQVL AKQHTFRLRT PDLSLTLLGA 700
    AVVGQECEVQ IVFKNPLPVT LTNVVFRLEG SGLQRPKILN VGDIGGNETV 750
    TLRQSFVPVR PGPRQLIASL DSPQLSQVHG VIQVDVAPAP GDGGFFSDAG 800
    GDSHLGETIP MASRGGA 817
    Length:817
    Mass (Da):89,787
    Last modified:January 4, 2005 - v4
    Checksum:i4732F28234F5D5F1
    GO

    Sequence cautioni

    The sequence AAA61166.1 differs from that shown. Reason: Frameshift at position 16.
    The sequence M86360 differs from that shown. Reason: Frameshift at positions 16, 421 and 651.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti119 – 1202Missing in M86360. (PubMed:1348508)Curated
    Sequence conflicti301 – 3011C → A in AAA61156. (PubMed:1346394)Curated
    Sequence conflicti508 – 5081Q → H in M86360. (PubMed:1348508)Curated
    Sequence conflicti551 – 5511D → E in M86360. (PubMed:1348508)Curated
    Sequence conflicti554 – 5541R → A in AAA61166. (PubMed:1670769)Curated
    Sequence conflicti669 – 6691V → I in AAA61166. (PubMed:1670769)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti42 – 421S → Y in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 Publications
    Corresponds to variant rs41295338 [ dbSNP | Ensembl ].
    VAR_015220
    Natural varianti53 – 531C → S in ARCI1.
    VAR_058638
    Natural varianti94 – 941G → D in ARCI1.
    Corresponds to variant rs121918729 [ dbSNP | Ensembl ].
    VAR_058639
    Natural varianti102 – 1021D → V in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
    VAR_020918
    Natural varianti126 – 1261R → C in ARCI1.
    VAR_058640
    Natural varianti126 – 1261R → H in ARCI1.
    VAR_058641
    Natural varianti132 – 1321D → N.
    Corresponds to variant rs2229462 [ dbSNP | Ensembl ].
    VAR_029268
    Natural varianti134 – 1341Y → C in ARCI1.
    VAR_058642
    Natural varianti142 – 1421R → C in ARCI1.
    VAR_058643
    Natural varianti142 – 1421R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 Publications
    VAR_007476
    Natural varianti142 – 1421R → P in ARCI1.
    VAR_058644
    Natural varianti143 – 1431R → C in ARCI1. 1 Publication
    VAR_007477
    Natural varianti143 – 1431R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
    VAR_007478
    Natural varianti144 – 1441G → E in ARCI1.
    VAR_058645
    Natural varianti144 – 1441G → R in ARCI1.
    VAR_058646
    Natural varianti160 – 1601S → C in ARCI1.
    VAR_058647
    Natural varianti205 – 2051L → Q in ARCI1.
    VAR_058648
    Natural varianti209 – 2091V → F in ARCI1.
    VAR_058649
    Natural varianti218 – 2181G → S in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
    VAR_007479
    Natural varianti225 – 2251R → H in ARCI1.
    VAR_058650
    Natural varianti225 – 2251R → P in ARCI1.
    VAR_058651
    Natural varianti243 – 2431I → S in ARCI1.
    VAR_058652
    Natural varianti249 – 2491P → L in ARCI1.
    VAR_058653
    Natural varianti264 – 2641R → Q in ARCI1.
    VAR_058654
    Natural varianti264 – 2641R → W in ARCI1.
    VAR_058655
    Natural varianti272 – 2721S → P in ARCI1.
    VAR_058656
    Natural varianti276 – 2761Y → N in ARCI1.
    VAR_058657
    Natural varianti278 – 2781G → R in ARCI1.
    VAR_058658
    Natural varianti285 – 2851E → K in ARCI1.
    VAR_058659
    Natural varianti286 – 2861R → Q in ARCI1.
    VAR_058660
    Natural varianti289 – 2891N → T in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
    VAR_020919
    Natural varianti293 – 2931F → V in ARCI1.
    VAR_058661
    Natural varianti304 – 3041I → F in ARCI1.
    VAR_058662
    Natural varianti307 – 3071R → G in ARCI1. 1 Publication
    Corresponds to variant rs121918731 [ dbSNP | Ensembl ].
    VAR_058663
    Natural varianti307 – 3071R → W in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
    VAR_020920
    Natural varianti315 – 3151R → C in ARCI1.
    VAR_058664
    Natural varianti315 – 3151R → H in ARCI1.
    VAR_058665
    Natural varianti315 – 3151R → L in ARCI1.
    VAR_058666
    Natural varianti323 – 3231R → Q in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 Publication
    VAR_015221
    Natural varianti323 – 3231R → W in ARCI1.
    VAR_058667
    Natural varianti330 – 3301N → H in ARCI1.
    VAR_058668
    Natural varianti331 – 3311S → P in ARCI1.
    VAR_058669
    Natural varianti342 – 3421W → R in ARCI1.
    VAR_058670
    Natural varianti358 – 3581S → R in ARCI1.
    VAR_058671
    Natural varianti359 – 3591V → M in ARCI1.
    VAR_058672
    Natural varianti365 – 3651Y → D in ARCI1.
    VAR_058673
    Natural varianti366 – 3661L → P in ARCI1.
    VAR_058674
    Natural varianti372 – 3721V → I.1 Publication
    Corresponds to variant rs41293794 [ dbSNP | Ensembl ].
    VAR_055374
    Natural varianti379 – 3791V → L in ARCI1. 1 Publication
    VAR_007480
    Natural varianti382 – 3821G → R in ARCI1.
    VAR_058675
    Natural varianti383 – 3831V → M in ARCI1.
    VAR_058676
    Natural varianti389 – 3891R → H in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
    VAR_015222
    Natural varianti389 – 3891R → P in ARCI1.
    VAR_058677
    Natural varianti392 – 3921G → D in ARCI1.
    VAR_058678
    Natural varianti396 – 3961R → H in ARCI1.
    VAR_058679
    Natural varianti396 – 3961R → L in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 Publication
    Corresponds to variant rs121918721 [ dbSNP | Ensembl ].
    VAR_007481
    Natural varianti396 – 3961R → S in ARCI1.
    VAR_058680
    Natural varianti401 – 4011F → V in ARCI1.
    VAR_058681
    Natural varianti430 – 4301D → V in ARCI1.
    VAR_058682
    Natural varianti473 – 4731G → S in ARCI1.
    VAR_058683
    Natural varianti490 – 4901D → G in ARCI1.
    VAR_058684
    Natural varianti518 – 5181V → M.1 Publication
    Corresponds to variant rs35312232 [ dbSNP | Ensembl ].
    VAR_052550
    Natural varianti520 – 5201E → G in ARCI1.
    Corresponds to variant rs142404759 [ dbSNP | Ensembl ].
    VAR_058685
    Natural varianti544 – 5441Y → C in ARCI1.
    VAR_058686
    Natural varianti607 – 6071R → C.1 Publication
    Corresponds to variant rs2229464 [ dbSNP | Ensembl ].
    VAR_052551
    Natural varianti687 – 6871R → C in ARCI1.
    VAR_058687
    Natural varianti687 – 6871R → H in ARCI1.
    VAR_058688
    Natural varianti755 – 7551S → L.1 Publication
    Corresponds to variant rs35926651 [ dbSNP | Ensembl ].
    VAR_052552
    Natural varianti764 – 7641R → C in ARCI1.
    VAR_058689
    Natural varianti802 – 8021D → V.1 Publication
    Corresponds to variant rs2228337 [ dbSNP | Ensembl ].
    VAR_024660

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M55183 mRNA. Translation: AAA59474.1.
    D90287 mRNA. Translation: BAA14329.1.
    M62925 mRNA. Translation: AAA61166.1. Frameshift.
    M83230
    , M83227, M83228, M83229 Genomic DNA. Translation: AAA61156.1.
    M86360 Genomic DNA. No translation available.
    D10353 Genomic DNA. Translation: BAA34203.1.
    M98447 Genomic DNA. Translation: AAA96667.1.
    AK315843 mRNA. Translation: BAF98734.1.
    DQ640500 Genomic DNA. Translation: ABF70204.1.
    CH471078 Genomic DNA. Translation: EAW66047.1.
    BC034699 mRNA. Translation: AAH34699.1.
    X57974 mRNA. Translation: CAA41040.1.
    CCDSiCCDS9622.1.
    PIRiA43401. TGHUM1.
    RefSeqiNP_000350.1. NM_000359.2.
    UniGeneiHs.508950.

    Genome annotation databases

    EnsembliENST00000206765; ENSP00000206765; ENSG00000092295.
    GeneIDi7051.
    KEGGihsa:7051.
    UCSCiuc001wod.3. human.

    Polymorphism databases

    DMDMi57015359.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    NIEHS-SNPs

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M55183 mRNA. Translation: AAA59474.1 .
    D90287 mRNA. Translation: BAA14329.1 .
    M62925 mRNA. Translation: AAA61166.1 . Frameshift.
    M83230
    , M83227 , M83228 , M83229 Genomic DNA. Translation: AAA61156.1 .
    M86360 Genomic DNA. No translation available.
    D10353 Genomic DNA. Translation: BAA34203.1 .
    M98447 Genomic DNA. Translation: AAA96667.1 .
    AK315843 mRNA. Translation: BAF98734.1 .
    DQ640500 Genomic DNA. Translation: ABF70204.1 .
    CH471078 Genomic DNA. Translation: EAW66047.1 .
    BC034699 mRNA. Translation: AAH34699.1 .
    X57974 mRNA. Translation: CAA41040.1 .
    CCDSi CCDS9622.1.
    PIRi A43401. TGHUM1.
    RefSeqi NP_000350.1. NM_000359.2.
    UniGenei Hs.508950.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    2XZZ X-ray 2.30 A 693-787 [» ]
    ProteinModelPortali P22735.
    SMRi P22735. Positions 110-787.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112909. 4 interactions.
    IntActi P22735. 5 interactions.
    STRINGi 9606.ENSP00000206765.

    Chemistry

    BindingDBi P22735.
    ChEMBLi CHEMBL2810.
    DrugBanki DB00130. L-Glutamine.

    PTM databases

    PhosphoSitei P22735.

    Polymorphism databases

    DMDMi 57015359.

    Proteomic databases

    MaxQBi P22735.
    PaxDbi P22735.
    PeptideAtlasi P22735.
    PRIDEi P22735.

    Protocols and materials databases

    DNASUi 7051.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000206765 ; ENSP00000206765 ; ENSG00000092295 .
    GeneIDi 7051.
    KEGGi hsa:7051.
    UCSCi uc001wod.3. human.

    Organism-specific databases

    CTDi 7051.
    GeneCardsi GC14M024718.
    GeneReviewsi TGM1.
    HGNCi HGNC:11777. TGM1.
    HPAi CAB015159.
    HPA040171.
    MIMi 190195. gene.
    242300. phenotype.
    neXtProti NX_P22735.
    Orphaneti 281127. Acral self-healing collodion baby.
    100976. Bathing suit ichthyosis.
    79394. Congenital non-bullous ichthyosiform erythroderma.
    313. Lamellar ichthyosis.
    281122. Self-healing collodion baby.
    PharmGKBi PA36490.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG80379.
    HOGENOMi HOG000231695.
    HOVERGENi HBG004342.
    InParanoidi P22735.
    KOi K05619.
    OMAi GRWGGNP.
    OrthoDBi EOG7WT40M.
    PhylomeDBi P22735.
    TreeFami TF324278.

    Miscellaneous databases

    GeneWikii Keratinocyte_transglutaminase.
    GenomeRNAii 7051.
    NextBioi 27569.
    PROi P22735.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P22735.
    Bgeei P22735.
    CleanExi HS_TGM1.
    Genevestigatori P22735.

    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. Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    2. "Molecular cloning of human epidermal transglutaminase cDNA from keratinocytes in culture."
      Yamanishi K., Liew F.M., Konishi K., Yasuno H., Doi H., Hirano J., Fukushima S.
      Biochem. Biophys. Res. Commun. 175:906-913(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
      Tissue: Keratinocyte.
    3. "The complete amino acid sequence of the human transglutaminase K enzyme deduced from the nucleic acid sequences of cDNA clones."
      Kim H.C., Idler W.W., Kim I.-G., Han J.H., Chung S.-I., Steinert P.M.
      J. Biol. Chem. 266:536-539(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    4. "Genomic structure of keratinocyte transglutaminase. Recruitment of new exon for modified function."
      Phillips M.A., Stewart B.E., Rice R.H.
      J. Biol. Chem. 267:2282-2286(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Placenta.
    5. "Structure and organization of the human transglutaminase 1 gene."
      Kim I.-G., McBride O.W., Wang M., Kim S.-Y., Idler W.W., Steinert P.M.
      J. Biol. Chem. 267:7710-7717(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    6. "Structure of the gene for human transglutaminase 1."
      Yamanishi K., Inazawa J., Liew F., Nonomura K., Ariyama T., Yasuno H., Abe T., Doi H., Hirano J., Fukushima S.
      J. Biol. Chem. 267:17858-17863(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Placenta.
    7. "Organization and evolution of the human epidermal keratinocyte transglutaminase I gene."
      Polakowska R.R., Eickbush T., Falciano V., Razvi F., Goldsmith L.A.
      Proc. Natl. Acad. Sci. U.S.A. 89:4476-4480(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Placenta.
    8. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Esophagus.
    9. NIEHS SNPs program
      Submitted (MAY-2006) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TYR-42; ILE-372; MET-518; CYS-607; LEU-755 AND VAL-802.
    10. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    11. "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].
      Tissue: Skin.
    12. "Isolation of cDNA for human epidermal type I transglutaminase."
      Polakowska R., Herting E., Goldsmith L.A.
      J. Invest. Dermatol. 96:285-288(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 6-551.
    13. Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 375-817.
      Tissue: Skin.
    14. "Identification of phosphorylation sites in keratinocyte transglutaminase."
      Rice R.H., Mehrpouyan M., Quin Q., Phillips M.A., Lee Y.M.
      Biochem. J. 320:547-550(1996) [PubMed] [Europe PMC] [Abstract]
      Cited for: PHOSPHORYLATION AT SER-24; SER-82; SER-85 AND SER-92.
    15. "Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1."
      Herman M.L., Farasat S., Steinbach P.J., Wei M.H., Toure O., Fleckman P., Blake P., Bale S.J., Toro J.R.
      Hum. Mutat. 30:537-547(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: REVIEW ON VARIANTS.
    16. "Crystal structure of the human transglutaminase 1 beta-barrel domain."
      Structural genomics consortium (SGC)
      Submitted (JAN-2011) to the PDB data bank
      Cited for: X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 693-787.
    17. Cited for: VARIANTS ARCI1 TYR-42 AND GLN-323.
    18. "Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis."
      Russell L.J., Digiovanna J.J., Rogers G.R., Steinert P.M., Hashem N., Compton J.G., Bale S.J.
      Nat. Genet. 9:279-283(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARCI1 HIS-142 AND HIS-143.
    19. "Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population."
      Laiho E., Ignatius J., Mikkola H., Yee V.C., Teller D.C., Niemi K.-M., Saarialho-Kere U., Kere J., Palotie A.
      Am. J. Hum. Genet. 61:529-538(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS ARCI1 HIS-142; CYS-143; SER-218; LEU-379 AND LEU-396.
    20. "Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma."
      Akiyama M., Takizawa Y., Kokaji T., Shimizu H.
      Br. J. Dermatol. 144:401-407(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARCI1 HIS-389.
    21. Cited for: VARIANTS ARCI1 VAL-102; THR-289 AND TRP-307.
    22. "Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients."
      Vahlquist A., Bygum A., Gaanemo A., Virtanen M., Hellstroem-Pigg M., Strauss G., Brandrup F., Fischer J.
      J. Invest. Dermatol. 130:438-443(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT ARCI1 GLY-307.

    Entry informationi

    Entry nameiTGM1_HUMAN
    AccessioniPrimary (citable) accession number: P22735
    Secondary accession number(s): Q197M4
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 1, 1991
    Last sequence update: January 4, 2005
    Last modified: October 1, 2014
    This is version 156 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 14
      Human chromosome 14: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3