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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TGM1 Gene

protein-coding   GIFtS: 60
GCID: GC14M024718

transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)


(Previous symbol: ICR2)
 Explore 45 diseases affiliated with
TGM1 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for TGM1    

Aliases
for TGM1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Transglutaminase 1 (K Polypeptide Epidermal Type I,
Protein-Glutamine-Gamma-Glutamyltransferase)1 2
     TGase-12 3
TGK1 2 3     TGase K2 3
ICR21 2 5     EC 2.3.2.133 8
LI11 2 5     ARCI12
LI1 2     Protein-Glutamine Gamma-Glutamyltransferase K2
TGASE1 2     Transglutaminase 1 Isoform2
Epidermal TGase2 3     Transglutaminase, Keratinocyte2
Transglutaminase K2 3     Transglutaminase-13
KTG2 3     Transglutaminase-13
TG(K)2 3     

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


Summaries
for TGM1 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for TGM1:
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)

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)


Genomic Views
for TGM1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000014.8  NC_018925.1  NT_026437.12  
Regulatory elements:
   SABiosciences 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 plasmid: TGM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for TGM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for TGM1 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Membrane; Lipid-anchor
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P22735

    • 4/13 DME Specific Peptides for TGM1 (P22735) (see all 13)
     FAEVNSD  LIVRRGQ  YKHPEGS  FIFAEVN 

    TGM1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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    Novus Biologicals TGM1 Lysates
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TGM1

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001533cornified envelope TAS8824274
    GO:0005913cell-cell adherens junction IEA--
    GO:0031224intrinsic to membrane IDA8824274


    TGM1 for ontologies           About GeneDecksing



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    Uscn Antibodies for TGM1
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    Uscn ELISAs and CLIAs for TGM1

    Protein Domains /
    Families
    for TGM1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    TGM1 for domains           About GeneDecksing

    5/7 InterPro domains/families (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 family: IPB002931 Transglutaminase-like domain

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


    Function
    for TGM1 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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
    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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003810protein-glutamine gamma-glutamyltransferase activity IDA7961731
    GO:0005515protein binding IPI10510474
    GO:0046872metal ion binding IEA--


    TGM1 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-out Tgm1tm1Kfyn for TGM1
         5 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Tgm1):
     behavior/neurological  growth/size  homeostasis/metabolism  integument  mortality/aging 

    TGM1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for TGM1 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for TGM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/12 Interacting proteins for TGM1 (P227353 ENSP000002067654) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    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): 5/6 biological process terms (GO ID links to tree view) (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



    Drugs & Compounds
    for TGM1 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    TGM1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    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

    10/22 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about TGM1 

    Transcripts
    for TGM1 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TGM1 (see all 7)
    OriGene shRNA RFP: TGM1
    OriGene siRNA: TGM1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TGM1
    Clone
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    Additional cDNA 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 

    24/40 AceView cDNA sequences (see all 40):

    BX397642 D90287 BX439627 NM_000359 CA503076 CB241208 X57974 AL603353 
    BC034699 M55183 AI269864 BM083664 BI259332 BX408713 CN479042 CB852067 
    BX408714 CB266185 AW083702 M62925 BP372709 AL039214 BP359636 BV199783 

    GeneLoc Exon Structure


    Expression
    for TGM1 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TGM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: --

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    See TGM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TGM1

    SOURCE GeneReport for Unigene cluster: Hs.508950
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    In Situ
    Assay Products:     
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    Orthologs
    for TGM1 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for TGM1 gene from 3/16 species (see all 16)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia TGM16
    		 --
    		 67(a)
    		 1 ↔ 1
    		 GL343400.1(152515-158859)
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.112732 Transcribed sequence with weak similarity to protein pirTGHUM1 (H.sapiens) TGHUM1 protein-glutamine gamma-glutamyltransferase (EC 2.3.2.13) 1, epidermal [validated] - human less 76.17(n)    BG308040.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG73563
    Tg1    		 protein-glutamine gamma-glutamyltransferase3
    Transglutaminase1    		 37(a)3
    49.85(n)1
    38.74(a)1    		   340931  NM_135330.11  NP_609174.11 


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

    Paralogs
    for TGM1 gene

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

    TGM1 for paralogs           About GeneDecksing



    Genomic Variants
    for TGM1 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/468 NCBI SNPs in TGM1 are shown (see all 468)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 14 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs353122321,2
    		C,F,pathogenic4839820(-) TTTATG/ATGGAG 2 /M /V mis111Minor allele frequency- A:0.01NA NS EU 6253
    rs1219187211,2
    		C,pathogenic4843009(-) CACCCG/TTACTG 2 R L mis10--------
    rs1219187201,2
    		C,pathogenic4843462(-) GCTGGA/C/GTCTTT 3 I L V mis11EU 1297
    rs1219187311,2
    		C,pathogenic4844132(-) TGGACC/G/TGGCGG 3 R G W mis11NA 4502
    rs1219187301,2
    		Cpathogenic4844313(-) CTGGAA/C/GCTACG 3 N T S mis11NA 4548
    rs1219187291,2
    		C,pathogenic4846435(-) CCGGGA/GCAGCG 2 D G mis10--------
    rs412953381,2
    		C,F,pathogenic4846591(-) CCGTTC/ACTTCT 2 /Y /S mis19Minor allele frequency- A:0.00NS NA EU 6041
    rs412947281,2
    		C,F,--4832666(-) TGCACA/GCTGAA 1 -- ds50016Minor allele frequency- G:0.02NS NA 306
    rs349870321,2
    		F--4833501(-) CTCTGC/TCCACA 1 -- int15Minor allele frequency- T:0.01MN 408
    rs1116997411,2
    		--4833811(+) CACCAC/TTGCTC 1 -- int11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for TGM1 (24718320 - 24733638 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for TGM1: --
    Human Gene Mutation Database (HGMD): TGM1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TGM1
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    Disorders / Diseases
    for TGM1 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    TGM1 for disorders           About GeneDecksing

    OMIM gene information: 190195   
    OMIM disorders: 242300  242100  
    UniProtKB/Swiss-Prot: TGM1_HUMAN, P22735
  • Defects in TGM1 are the cause of ichthyosis lamellar type 1 (LI1) [MIM:242300]. LI is a non-bullous
    • ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. It is one the most severe forms
    of ichthyoses apparent at birth and persisting throughout life. LI patients are born encased in a tight, shiny,
    translucent covering called collodion membrane. Over the first weeks of life, the collodion membrane is gradually
    replaced by generalized large, dark brown, plate-like scales with minimal to no erythroderma. Tautness of facial skin
    commonly results in ectropion, eclabium and scarring alopecia of the scalp. Common complications are severe heat
    intolerance and recurrent ear infections
  • Defects in TGM1 are a cause of non-bullous congenital ichthyosiform erythroderma (NCIE) [MIM:242100]. NCIE is
    • a non-bullous ichthyosis, a skin disorder characterized by abnormal cornification of the epidermis. Most affected
    individuals are born with a tight, shiny, translucent covering called collodion membrane. The collodion membrane
    subsequently evolves into generalized scaling and intense redness of the skin. Clinical features are milder than in
    lamellar ichthyoses and demonstrate a greater variability in the intensity of erythema, size and type of scales. In
    contrast to lamellar ichthyoses, scales are usually white, fine and powdery, and palms and soles are severely
    affected. Patients suffer from palmoplantar keratoderma, often with painful fissures, digital contractures, and loss
    of pulp volume
  • Defects in TGM1 are the cause of ichthyosis congenital autosomal recessive TGM1-related (ARCI-TGM1)
    • [MIM:242300]. A disorder of keratinization with abnormal differentiation and desquamation of the epidermis resulting
    in two major clinical entities. 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

    20/45 diseases for TGM1 (see all 45):    About MalaCards
    congenital ichthyosiform erythroderma    self-healing collodion baby    ichthyosis    stevens-johnson syndrome
    x-linked ichthyosis    silver-russell syndrome    beckwith-wiedemann syndrome    autosomal recessive congenital ichthyosis
    inclusion body myositis    epidermolytic hyperkeratosis    vohwinkel syndrome    vohwinkel syndrome with ichthyosis
    netherton syndrome    ectropion    ichthyosis vulgaris    dermatitis herpetiformis
    skin disease    keratoderma    renal agenesis    kallmann syndrome

    7 diseases from the University of Copenhagen DISEASES database for TGM1:
    Congenital ichthyosiform erythroderma     Silver-Russell syndrome     Beckwith-Wiedemann syndrome     Skin disease
    Ichthyosis vulgaris     X-linked ichthyosis     Lipoma of colon

    10/21 Novoseek 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
    Autosomal Recessive Congenital Ichthyosis

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

    Export disorders for TGM1 gene to outside databases

    Publications
    for TGM1 gene

    (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)
    About This Section

    PubMed articles for TGM1 gene, integrated from 9 sources (see all 243):
    (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, 9 Herman M.L....Toro J.R. (2009)
    2. 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. (1997)
    3. Novel mutations of TGM1 in a child with congenital ichthyosiform erythroderma. (PubMed id 11251583)1, 2, 9 Akiyama M.... Shimizu H. (2001)
    4. Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis. (PubMed id 7773290)1, 2, 9 Russell L.J.... Bale S.J. (1995)
    5. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. (PubMed id 7824952)1, 2, 9 Huber M.... Hohl D. (1995)
    6. Novel mutations of the transglutaminase 1 gene in lamellar ichthyosis. (PubMed id 11511296)1, 2, 9 Yang J.M.... Steinert P.M. (2001)
    7. Type I keratinocyte transglutaminase: expression in human skin and psoriasis. (PubMed id 1351505)1, 2, 9 Schroeder W.... Duvic M. (1992)
    8. Genomic structure of keratinocyte transglutaminase. Recruitment of new exon for modified function. (PubMed id 1346394)1, 2, 9 Phillips M.A.... Rice R.H. (1992)
    9. Structure of the gene for human transglutaminase 1. (PubMed id 1381356)1, 2, 9 Yamanishi K.... Fukushima S. (1992)
    10. A three-dimensional model of the human transglutaminase 1: insights into the understanding of lamellar ichthyosis. (PubMed id 17024410)1, 7, 9 Boeshans K.M....Ahvazi B. (2007)

    External Searches for TGM1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
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    Genome Databases showing TGM1 gene

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

    Other Databases showing TGM1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing TGM1 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for TGM1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/TGM1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/tgm1/

    Intellectual Property
    for TGM1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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