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TGM1 Gene

protein-coding   GIFtS: 64
GCID: GC14M024718

Transglutaminase 1

(Previous names: transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase))
(Previous symbol: ICR2)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transglutaminase 11 2     protein-glutamine-gamma-glutamyltransferase1
ICR21 2 5     Transglutaminase 1 (K Polypeptide Epidermal Type I,
Protein-Glutamine-Gamma-Glutamyltransferase)1
Epidermal TGase2 3     LI2
Transglutaminase K2 3     LI12
KTG2 3     TGASE2
TG(K)2 3     K Polypeptide Epidermal Type I,
Protein-Glutamine-Gamma-Glutamyltransferase2
TGK2 3     Protein-Glutamine Gamma-Glutamyltransferase K2
TGase-12 3     Transglutaminase 1 Isoform2
TGase K2 3     Transglutaminase, Keratinocyte2
EC 2.3.2.133 8     transglutaminase-12
ARCI12 5     Transglutaminase-13
K Polypeptide Epidermal Type I1     

External Ids:    HGNC: 117771   Entrez Gene: 70512   Ensembl: ENSG000000922957   OMIM: 1901955   UniProtKB: P227353   

Export aliases for TGM1 gene to outside databases

Previous GC identifers: GC14M022090 GC14M018505 GC14M022708 GC14M023788 GC14M004833


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for TGM1 Gene:
The protein encoded by this gene is a membrane protein that catalyzes the addition of an alkyl group from an
akylamine to a glutamine residue of a protein, forming an alkylglutamine in the protein. This protein alkylation
leads to crosslinking of proteins and catenation of polyamines to proteins. This gene contains either one or two
copies of a 22 nt repeat unit in its 3' UTR. Mutations in this gene have been associated with autosomal recessive
lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE). (provided by RefSeq, Jul
2008)

GeneCards Summary for TGM1 Gene:
TGM1 (transglutaminase 1) is a protein-coding gene. Diseases associated with TGM1 include ichthyosis, congenital, autosomal recessive 1, and ectropion. GO annotations related to this gene include protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is TGM3.

UniProtKB/Swiss-Prot: TGM1_HUMAN, P22735
Function: 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

Gene Wiki entry for TGM1 (Keratinocyte transglutaminase) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000014.9  NC_018925.2  NT_026437.13  
Regulatory elements:
   Regulatory transcription factor binding sites in the TGM1 gene promoter:
         Pax-5   Sp1   CUTL1   NF-kappaB   IRF-2   STAT3   NF-kappaB1   ITF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTGM1 promoter sequence
   Search Chromatin IP Primers for TGM1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TGM1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 14q11.2   Ensembl cytogenetic band:  14q12   HGNC cytogenetic band: 14q11.2

TGM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TGM1 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M024718:  view genomic region     (about GC identifiers)

Start:
24,718,320 bp from pter      End:
24,733,638 bp from pter
Size:
15,319 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TGM1_HUMAN, P22735 (See protein sequence)
Recommended Name: Protein-glutamine gamma-glutamyltransferase K  
Size: 817 amino acids; 89787 Da
Cofactor: Binds 1 calcium ion per subunit
Sequence caution: Sequence=AAA61166.1; Type=Frameshift; Positions=16; Sequence=M86360; Type=Frameshift;
Positions=16, 421, 651;
1 PDB 3D structure from and Proteopedia for TGM1:
2XZZ (3D)    
Secondary accessions: Q197M4

Explore the universe of human proteins at neXtProt for TGM1: NX_P22735

Explore proteomics data for TGM1 at MOPED

Post-translational modifications: 

  • 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 form1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for TGM1 (P22735) (see all 13)
     FAEVNSD  LIVRRGQ  YKHPEGS  FIFAEVN 


    See TGM1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000350.1  
    ENSEMBL proteins: 
     ENSP00000206765   ENSP00000439446   ENSP00000453701   ENSP00000453337   ENSP00000453840  
     ENSP00000452822   ENSP00000453234   ENSP00000454070   ENSP00000452690  

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    Cloud-Clone Corp. Proteins for TGM1

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    Cloud-Clone Corp. CLIAs for TGM1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    TGM: Transglutaminases

    Selected InterPro protein domains (see all 7):
     IPR008958 Transglutaminase_C
     IPR014756 Ig_E-set
     IPR023608 Gln_gamma-glutamylTfrase_euk
     IPR001102 Transglutaminase_N
     IPR013808 Transglutaminase_CS

    Graphical View of Domain Structure for InterPro Entry P22735

    ProtoNet protein and cluster: P22735

    1 Blocks protein domain: IPB002931 Transglutaminase-like domain

    UniProtKB/Swiss-Prot: TGM1_HUMAN, P22735
    Similarity: Belongs to the transglutaminase superfamily. Transglutaminase family


    TGM1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TGM1_HUMAN, P22735
    Function: 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 activity: Protein glutamine + alkylamine = protein N(5)-alkylglutamine + NH(3)

         Genatlas biochemistry entry for TGM1:
    keratinocyte transglutaminase,K polypeptide,epidermal,type I (92kDa),membrane associated,crosslinking the
    structural components SPRRs,IVL and LOR for the formation of cornified enveloppe,also binding
    omega-hydroxyceramides to evolucrin by ester bond formation in the terminal step of the differentiation programme
    of epidermal keratinocytes

         Enzyme Number (IUBMB): EC 2.3.2.131 2

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003810protein-glutamine gamma-glutamyltransferase activity IDA7961731
    GO:0005515protein binding IPI10066784
    GO:0046872metal ion binding IEA--
         
    TGM1 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for TGM1:
     Decreased Hepatitis C virus re 

         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Tgm1):
     behavior/neurological  growth/size/body  homeostasis/metabolism  integument  mortality/aging 

    TGM1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Tgm1tm1Kfyn for TGM1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TGM1
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    miRNA
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    miRTarBase miRNAs that target TGM1:
    hsa-mir-26b-5p (MIRT029438), hsa-mir-124-3p (MIRT022617)

    Block miRNA regulation of human, mouse, rat TGM1 using miScript Target Protectors
    Search for qRT-PCR Assays for microRNAs that regulate TGM1
    SwitchGear 3'UTR luciferase reporter plasmidTGM1 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TGM1

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    GenScript: all cDNA clones in your preferred vector: TGM1 (NM_000359)
    Sino Biological Human cDNA Clone for TGM1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TGM1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TGM1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGM1


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TGM1_HUMAN, P22735: Membrane; Lipid-anchor
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    chloroplast2
    extracellular2
    nucleus2
    plasma membrane2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001533cornified envelope TAS8824274
    GO:0005913cell-cell adherens junction IEA--
    GO:0031224intrinsic component of membrane IDA8824274
    GO:0070062extracellular vesicular exosome IDA19199708

    TGM1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TGM1
    Interactions:

        GeneGlobe Interaction Network for TGM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for TGM1 (P227353 ENSP000002067654) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RARRES3Q9UL193, ENSP000002556884I2D: score=2 STRING: ENSP00000255688
    HSPB1P047923, ENSP000002485534I2D: score=1 STRING: ENSP00000248553
    MDKP217413, ENSP000003528524I2D: score=1 STRING: ENSP00000352852
    SEMG1P042793, ENSP000003618674I2D: score=1 STRING: ENSP00000361867
    SEMG2Q023833, ENSP000003618554I2D: score=1 STRING: ENSP00000361855
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process NAS1979171
    GO:0009887organ morphogenesis IEA--
    GO:0018149peptide cross-linking IEA--
    GO:0030216keratinocyte differentiation IDA8824274
    GO:0031424keratinization IEA--

    TGM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TGM1

    3 HMDB Compounds for TGM1    About this table
    CompoundSynonyms CAS #PubMed Ids
    AmmoniaNH3 (see all 31)7664-41-7--
    CalciumCa (see all 2)7440-70-2--
    L-Glutamine(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)56-85-9--

    1 DrugBank Compound for TGM1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Glutamine(S)-2,5-diamino-5-oxopentanoic acid (see all 4)56-85-9enzymesubstrate17024410

    Selected Novoseek inferred chemical compound relationships for TGM1 gene (see all 22)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    collodion 83.4 22 19500103 (3), 18948357 (2), 12542526 (2), 20021785 (1) (see all 8)
    epsilon-(gamma-glutamyl)lysine 72.7 1 1356818 (1)
    cholesterol-sulfate 68.1 8 9856823 (4), 9865910 (1), 17468528 (1), 10644724 (1)
    1,25 dihydroxy vitamin d3 49.6 1 8996256 (1)
    monodansylcadaverine 49.2 2 16639001 (1)
    retinoic acid 44.1 11 1355099 (4), 17147502 (2), 9196026 (1), 9989277 (1) (see all 5)
    retinoid 42.9 3 10871075 (2)
    calcipotriol 35.6 1 8996256 (1)
    phorbol 30.6 1 9361026 (1)
    glutamine 24.6 1 10644724 (1)



    TGM1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for TGM1 gene: 
    NM_000359.2  

    Unigene Cluster for TGM1:

    Transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)
    Hs.508950  [show with all ESTs]
    Unigene Representative Sequence: NM_000359
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000206765(uc001wod.3 uc010tog.2) ENST00000544573 ENST00000559669
    ENST00000559136(uc021rrn.1) ENST00000558074 ENST00000560443 ENST00000560478
    ENST00000560226 ENST00000561067

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      QuantiFast Probe-based Assays in human, mouse, rat TGM1

    Additional mRNA sequence: 

    AK291350.1 AK299436.1 AK301652.1 AK315819.1 AK315828.1 AK315843.1 BC034699.1 D90287.1 
    JF419518.1 M55183.1 M62925.1 X57974.1 

    7 DOTS entries:

    DT.309165  DT.120732257  DT.92421710  DT.100016111  DT.100732232  DT.120732253  DT.92421712 

    Selected AceView cDNA sequences (see all 40):

    CB241208 X57974 CA503076 NM_000359 BX397642 AL603353 D90287 BX439627 
    BC034699 M55183 CB266185 AW083702 M62925 CN479042 BG675728 BX430048 
    AL039214 BV199783 BX408714 BP372709 BI259332 BX408713 BP359636 AI269864 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TGM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TGM1 Expression
    About this image


    TGM1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Epidermis (Integumentary System)    fully expand to see all 3 entries
             Corneocytes Stratified Epidermis
             Full-thickness skin substitutes
     
     Epithelial Cells
             Corneocytes Stratified Epidermis
     
     Esophagus (Gastrointestinal Tract)
     
     Larynx (Respiratory System)
    TGM1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TGM1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.508950
        Custom PCR Arrays for TGM1
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    QuantiFast Probe-based Assays in human, mouse, rat TGM1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TGM1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TGM1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tgm11 , 5 transglutaminase 1, K polypeptide1, 5 85.64(n)1
    90.97(a)1
      14 (28.19 cM)5
    218161  NM_001161715.11  NP_001155187.11 
     557000095 
    lizard
    (Anolis carolinensis)
    Reptilia TGM16
    transglutaminase 1
    68(a)
    1 ↔ 1
    GL343400.1(152466-159687)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tgm11 transglutaminase 1 58.42(n)
    58.57(a)
      100487465  XM_002939027.2  XP_002939073.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.112732 Transcribed sequence with weak similarity to protein more 76.17(n)    BG308040.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG73563
    Tg1
    protein-glutamine
    gamma-glutamyltransferase3
    Transglutaminase1
    37(a)3
    50.05(n)1
    39.16(a)1
      340931  NM_135330.21  NP_609174.11 


    ENSEMBL Gene Tree for TGM1 (if available)
    TreeFam Gene Tree for TGM1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TGM1 gene
    TGM32  F13A12  EPB422  TGM52  TGM72  TGM42  TGM22  TGM62  
    8 SIMAP similar genes for TGM1 using alignment to 9 protein entries:     TGM1_HUMAN (see all proteins):
    F13A1    TGM2    TGM3    TGM4    EPB42    TGM6
    TGM7    TGM5

    TGM1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TGM1 (see all 654)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1424047591,2,,4
    C,FIchthyosis, congenital, autosomal recessive 1 (ARCI1)4 --5722011(+) CCTTCT/CCCTCC 2 /E /G mis12Minor allele frequency- C:0.01NA EU 5871
    rs1219187211,2,,4
    CIchthyosis, congenital, autosomal recessive 1 (ARCI1)4 pathogenic15725207(-) CACCCG/TTACTG 2 R L mis10--------
    rs1219187311,2,,4
    CIchthyosis, congenital, autosomal recessive 1 (ARCI1)4 pathogenic15726330(-) TGGACC/G/TGGCGG 2 R W mis11NA 4502
    rs1219187291,2,,4
    CIchthyosis, congenital, autosomal recessive 1 (ARCI1)4 pathogenic15728633(-) CCGGGA/GCAGCG 2 D G mis10--------
    rs412953381,2,,4
    C,FIchthyosis, congenital, autosomal recessive 1 (ARCI1)4 pathogenic15728789(-) CCGTTC/ACTTCT 2 /Y /S mis19Minor allele frequency- A:0.00NS NA EU 6041
    VAR_0586694
    Ichthyosis, congenital, autosomal recessive 1 (ARCI1)4--see VAR_0586692 S P mis40--------
    VAR_0209204
    Ichthyosis, congenital, autosomal recessive 1 (ARCI1)4--see VAR_0209202 R W mis40--------
    VAR_0586554
    Ichthyosis, congenital, autosomal recessive 1 (ARCI1)4--see VAR_0586552 R W mis40--------
    VAR_0586774
    Ichthyosis, congenital, autosomal recessive 1 (ARCI1)4--see VAR_0586772 R P mis40--------
    VAR_0209184
    Ichthyosis, congenital, autosomal recessive 1 (ARCI1)4--see VAR_0209182 D V mis40--------

    HapMap Linkage Disequilibrium report for TGM1 (24718320 - 24733638 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TGM1: --
    Human Gene Mutation Database (HGMD): TGM1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TGM1
    DNA2.0 Custom Variant and Variant Library Synthesis for TGM1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 190195   
    OMIM disorders: 242300  
    UniProtKB/Swiss-Prot: TGM1_HUMAN, P22735
  • 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • Selected diseases for TGM1 (see all 49):    
    About MalaCards
    ichthyosis, congenital, autosomal recessive 1    ectropion    acral self-healing collodion baby    lipoma of colon
    unilateral renal agenesis    autosomal recessive congenital ichthyosis    tgm1-related autosomal recessive congenital ichthyosis    vohwinkel syndrome with ichthyosis
    ichthyosis, congenital, autosomal recessive 2    stevens-johnson syndrome    congenital ichthyosiform erythroderma    vohwinkel syndrome
    x-linked ichthyosis    renal agenesis    netherton syndrome    skin disease
    epidermolytic hyperkeratosis    ichthyosis vulgaris    dermatitis herpetiformis    keratoderma

    7 diseases from the University of Copenhagen DISEASES database for TGM1:
    Congenital ichthyosiform erythroderma     Ectropion     Beckwith-Wiedemann syndrome     Silver-Russell syndrome
    Epidermolytic hyperkeratosis     Ichthyosis vulgaris     Psoriasis

    TGM1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    Selected Novoseek inferred disease relationships for TGM1 gene (see all 21)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    congenital ichthyosis 91.7 5 9326318 (1), 19556108 (1), 16634887 (1), 17635512 (1) (see all 5)
    ichthyosis 89.9 20 18165261 (3), 9506447 (2), 16968736 (1), 19438474 (1) (see all 13)
    harlequin ichthyosis 88.2 3 9486708 (1), 9049047 (1)
    ichthyosiform erythroderma congenital 87.9 8 11251583 (2), 16133457 (1), 9887377 (1), 10659499 (1) (see all 6)
    skin diseases genetic 75.1 1 9517915 (1)
    hyperkeratosis 71.1 1 11079322 (1)
    keratoderma 69.7 1 9517915 (1)
    netherton syndrome 56.2 2 17223863 (1)
    skin diseases 55.9 1 15061870 (1)
    ichthyosis x-linked 55.3 1 17468528 (1)

    GeneTests: TGM1
    GeneReviews: TGM1
    Genetic Association Database (GAD): TGM1
    Human Genome Epidemiology (HuGE) Navigator: TGM1 (7 documents)

    Export disorders for TGM1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TGM1 gene, integrated from 10 sources (see all 251):
    (articles sorted by number of sources associating them with TGM1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Transglutaminase-1 gene mutations in autosomal recessive congenital ichthyosis: summary of mutations (including 23 novel) and modeling of TGase-1. (PubMed id 19241467)1, 2, 4, 9 Herman M.L.... Toro J.R. (Hum. Mutat. 2009)
    2. Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. (PubMed id 18948357)1, 4, 9 Farasat S....Toro J.R. (J. Med. Genet. 2009)
    3. Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population. (PubMed id 9326318)1, 2, 9 Laiho E.... Palotie A. (Am. J. Hum. Genet. 1997)
    4. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. (PubMed id 11251583)1, 2, 9 Akiyama M.... Shimizu H. (Br. J. Dermatol. 2001)
    5. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. (PubMed id 7773290)1, 2, 9 Russell L.J.... Bale S.J. (Nat. Genet. 1995)
    6. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. (PubMed id 7824952)1, 2, 9 Huber M.... Hohl D. (Science 1995)
    7. Genotypic and clinical spectrum of self-improving collodion ichthyosis: ALOX12B, ALOXE3, and TGM1 mutations in Scandinavian patients. (PubMed id 19890349)1, 2, 9 Vahlquist A.... Fischer J. (J. Invest. Dermatol. 2010)
    8. Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis. (PubMed id 11511296)1, 2, 9 Yang J.M.... Steinert P.M. (J. Invest. Dermatol. 2001)
    9. Type I keratinocyte transglutaminase: expression in human skin and psoriasis. (PubMed id 1351505)1, 2, 9 Schroeder W.... Duvic M. (J. Invest. Dermatol. 1992)
    10. Genomic structure of keratinocyte transglutaminase. Recruitment of new exon for modified function. (PubMed id 1346394)1, 2, 9 Phillips M.A.... Rice R.H. (J. Biol. Chem. 1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 7051 HGNC: 11777 AceView: TGM1 Ensembl:ENSG00000092295 euGenes: HUgn7051
    ECgene: TGM1 H-InvDB: TGM1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TGM1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=TGM1[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/tgm1/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TGM1 gene:
    Search GeneIP for patents involving TGM1

    Licensable Technologies for TGM1 gene:
    Weizmann Institute:Transglutaminase inhibitors for the treatment of neurodegenerative diseases
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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