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FLASH GENE
Symbol TGM1 contributors: mct - updated : 28-09-2013
HGNC name transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
HGNC id 11777
Corresponding disease
ARCI1 ichthyosis, congenital, autosomal recessive 1
BSI bathing suit ichthyosis
Location 14q11.2      Physical location : 24.718.321 - 24.732.416
Synonym name
  • protein-glutamine-gamma-glutamyltransferase 1
  • transglutaminase keratinocyte
  • Synonym symbol(s) TGK1, ICR2, TGASE, LI, LI1, KTG
    EC.number 2.3.2.13
    DNA
    TYPE functioning gene
    STRUCTURE 14.00 kb     16 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    regulatory sequence cytosine-phosphate-guanine/HTF
    MAPPING cloned Y linked Y status confirmed
    Physical map
    LOC90668 14q11.2 hypothetical protein BC008134 CPNE6 14q11.2 copine VI (neuronal) NRL 14q11.1-q11.2 neural retina leucine zipper PCK2 14q11.2-q12 phosphoenolpyruvate carboxykinase 2 (mitochondrial) WDR23 14q11.2 WD repeat domain 23 LOC161247 14q11.2 similar to 1110028A07Rik protein PSME1 14q11.2 proteasome (prosome, macropain) activator subunit 1 (PA28 alpha) C14orf122 14q11.2 chromosome 14 open reading frame 122 PSME2 14q11.2 proteasome (prosome, macropain) activator subunit 2 (PA28 beta) RNF31 14q11.2 ring finger protein 31 ISGF3G 14q11.2 interferon-stimulated transcription factor 3, gamma 48kDa REC8L1 14q11.2-q12 REC8-like 1 (yeast) IPO4 14q11.2 importin 4 TM9SF1 14q11.2 transmembrane 9 superfamily member 1 C14orf20 14q11.2 chromosome 14 open reading frame 20 C14orf123 14q11.2 chromosome 14 open reading frame 123 MGC5987 14q11.2 hypothetical protein MGC5987 NEDD8 14q11.2 neural precursor cell expressed, developmentally down-regulated 8 GMPR2 14q11.2 guanosine monophosphate reductase 2 TINF2 14q11.2 TERF1 (TRF1)-interacting nuclear factor 2 TGM1 14q11.2 transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) RABGGTA 14q11.2 Rab geranylgeranyltransferase, alpha subunit DHRS1 14q11.2 dehydrogenase/reductase (SDR family) member 1 C14orf21 14q11.2 chromosome 14 open reading frame 21 CIDEB 14q11.2 cell death-inducing DFFA-like effector b LTB4R2 14q11.2-q12 leukotriene B4 receptor 2 LTB4R 14q11.2-q12 leukotriene B4 receptor ADCY4 14q11.2 adenylate cyclase 4 RIPK3 14q11.2 receptor-interacting serine-threonine kinase 3 NFATC4 14q11.2 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 KIAA1305 14q11.2 KIAA1305 HCDI
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    - - 2777 89 817 - -
  • also called TGM1a
  • - initiation site 2700 - - - Kim
  • two nucleotide, 5' deletions differing from 1a by the first 15 amino acids
  • also called TGM1b
  • EXPRESSION
    Type widely
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveesophagus   highly
     mouth   highly
     pharynx   lowly
    Lymphoid/Immunethymus   moderately
    Reproductivefemale systemplacenta  moderately
     female systemuteruscervix moderately
     female systemuterus  lowly
    Respiratoryrespiratory tracttrachea  lowly
     respiratory tractlarynx  predominantly
    Urinarybladder   moderately
     kidney   lowly
    Visualeye   lowly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Connectiveadipose  highly
    Epithelialbarrier liningretinal pigment epithelium (RPE) lowly
    Muscularstriatumskeletal lowly
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Skin/Tegumentkeratinocyte
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    Text umbilical cord at an highly level
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • unique N terminal
  • C terminal extensions
  • HOMOLOGY
    interspecies homolog to dog TGM1 (92.26 pc)
    homolog to chimpanzee TGM1 (99.63 pc)
    homolog to rattus Tgm1 (91.52 pc)
    homolog to murine Tgm1 (91.49 pc)
    intraspecies homolog to clotting factor FXIII catalytic subunit
    Homologene
    FAMILY transglutaminase family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text membrane bound
    basic FUNCTION
  • transglutaminase, crosslinking the structural components (SPRRs,IVL and LOR) and constituents of cornified enveloppe
  • also binding omega-hydroxyceramides to evolucrin by ester bond formation in the terminal step of the differentiation programme of epidermal keratinocytes
  • CELLULAR PROCESS cell organization/biogenesis
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
  • Ca2+
  • protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ARCI1 , BSI
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS