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Aliases for TGM5 Gene

Aliases for TGM5 Gene

  • Transglutaminase 5 2 3
  • TGX 3 4 6
  • Transglutaminase X 3 4
  • Transglutaminase-5 3 4
  • EC 2.3.2.13 4 64
  • TGase X 3 4
  • TGase-5 3 4
  • TG(X) 3 4
  • TGMX 3 4
  • Protein-Glutamine Gamma-Glutamyltransferase 5 3
  • Transglutaminase V 3
  • TGASE5 3
  • TGASEX 3
  • PSS2 3
  • TGM6 3

External Ids for TGM5 Gene

Summaries for TGM5 Gene

Entrez Gene Summary for TGM5 Gene

  • This gene encodes a member of the transglutaminase family. The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues, often resulting in stabilization of protein assemblies. This reaction is calcium dependent. Mutations in this gene have been associated with acral peeling skin syndrome. [provided by RefSeq, Oct 2009]

GeneCards Summary for TGM5 Gene

TGM5 (Transglutaminase 5) is a Protein Coding gene. Diseases associated with TGM5 include peeling skin syndrome 2 and peeling skin syndrome. GO annotations related to this gene include protein-glutamine gamma-glutamyltransferase activity. An important paralog of this gene is F13A1.

UniProtKB/Swiss-Prot for TGM5 Gene

  • Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TGM5 Gene

Genomics for TGM5 Gene

Genomic Location for TGM5 Gene

Start:
43,232,595 bp from pter
End:
43,266,857 bp from pter
Size:
34,263 bases
Orientation:
Minus strand

Genomic View for TGM5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TGM5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TGM5 Gene

Regulatory Elements for TGM5 Gene

Proteins for TGM5 Gene

  • Protein details for TGM5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43548-TGM5_HUMAN
    Recommended name:
    Protein-glutamine gamma-glutamyltransferase 5
    Protein Accession:
    O43548
    Secondary Accessions:
    • O43549
    • Q0VF40
    • Q9UEZ4

    Protein attributes for TGM5 Gene

    Size:
    720 amino acids
    Molecular mass:
    80778 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108; Note=Binds 1 Ca(2+) ion per subunit.;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for TGM5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TGM5 Gene

Proteomics data for TGM5 Gene at MOPED

Selected DME Specific Peptides for TGM5 Gene

Post-translational modifications for TGM5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TGM5 Gene

Domains for TGM5 Gene

Gene Families for TGM5 Gene

HGNC:
  • TGM :Transglutaminases

UniProtKB/Swiss-Prot:

TGM5_HUMAN
Family:
  • Belongs to the transglutaminase superfamily. Transglutaminase family.:
    • O43548
genes like me logo Genes that share domains with TGM5: view

Function for TGM5 Gene

Molecular function for TGM5 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Protein glutamine + alkylamine = protein N(5)-alkylglutamine + NH(3).
UniProtKB/Swiss-Prot Function: Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes
UniProtKB/Swiss-Prot Induction: By 12-O-tetradecanoylphorbol-13-acetate (TPA) and calcium in NHEK cells.

Enzyme Numbers (IUBMB) for TGM5 Gene

Gene Ontology (GO) - Molecular Function for TGM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003810 protein-glutamine gamma-glutamyltransferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TGM5: view

Phenotypes for TGM5 Gene

GenomeRNAi human phenotypes for TGM5:
genes like me logo Genes that share phenotypes with TGM5: view

No data available for Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for TGM5 Gene

Localization for TGM5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TGM5 Gene

Cytoplasm. Note=Associated with intermediate filaments.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TGM5 Gene COMPARTMENTS Subcellular localization image for TGM5 gene
Compartment Confidence
cytosol 3
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
mitochondrion 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TGM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with TGM5: view

Pathways for TGM5 Gene

SuperPathways for TGM5 Gene

No Data Available

Interacting Proteins for TGM5 Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000220420%0d%0a9606.ENSP00000343701%0d%0a9606.ENSP00000344818%0d%0a9606.ENSP00000392709%0d%0a
Selected Interacting proteins: ENSP00000220420 for TGM5 Gene via STRING

Gene Ontology (GO) - Biological Process for TGM5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006464 cellular protein modification process TAS 9452468
GO:0008544 epidermis development TAS 9452468
GO:0018149 peptide cross-linking IEA --
genes like me logo Genes that share ontologies with TGM5: view

No data available for Pathways by source for TGM5 Gene

Compounds for TGM5 Gene

(3) HMDB Compounds for TGM5 Gene

Compound Synonyms Cas Number PubMed IDs
Ammonia
  • NH3
7664-41-7
Calcium
  • Ca
7440-70-2
L-Glutamine
  • (2S)-2,5-diamino-5-oxopentanoic acid
56-85-9

(1) Drugbank Compounds for TGM5 Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Glutamine
  • (S)-2,5-diamino-5-oxopentanoic acid
56-85-9 enzyme substrate

(2) Novoseek inferred chemical compound relationships for TGM5 Gene

Compound -log(P) Hits PubMed IDs
gtp 38.1 2
calcium 0 1
genes like me logo Genes that share compounds with TGM5: view

Transcripts for TGM5 Gene

mRNA/cDNA for TGM5 Gene

(4) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(7) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TGM5 Gene

Transglutaminase 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TGM5 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12
SP1: -
SP2: -

Relevant External Links for TGM5 Gene

GeneLoc Exon Structure for
TGM5
ECgene alternative splicing isoforms for
TGM5

Expression for TGM5 Gene

mRNA expression in normal human tissues for TGM5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TGM5 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (18.2), Skin - Not Sun Exposed (Suprapubic) (15.8), and Esophagus - Mucosa (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for TGM5 Gene

SOURCE GeneReport for Unigene cluster for TGM5 Gene Hs.129719

mRNA Expression by UniProt/SwissProt for TGM5 Gene

O43548-TGM5_HUMAN
Tissue specificity: Expressed in foreskin keratinocytes
genes like me logo Genes that share expressions with TGM5: view

Orthologs for TGM5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TGM5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TGM5 36
  • 99.26 (n)
  • 99.03 (a)
TGM5 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TGM5 36
  • 87.81 (n)
  • 86.07 (a)
TGM5 37
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TGM5 36
  • 87.18 (n)
  • 85.87 (a)
TGM5 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tgm5 36
  • 83.89 (n)
  • 82.96 (a)
Tgm5 16
Tgm5 37
  • 82 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TGM5 37
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 31 (a)
ManyToMany
rat
(Rattus norvegicus)
Mammalia LOC691932 36
  • 84.15 (n)
  • 84.06 (a)
chicken
(Gallus gallus)
Aves -- 37
  • 36 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 40 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tgm5 36
  • 58.45 (n)
  • 53.1 (a)
zebrafish
(Danio rerio)
Actinopterygii tgm8 37
  • 38 (a)
OneToMany
Species with no ortholog for TGM5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TGM5 Gene

ENSEMBL:
Gene Tree for TGM5 (if available)
TreeFam:
Gene Tree for TGM5 (if available)

Paralogs for TGM5 Gene

Paralogs for TGM5 Gene

Selected SIMAP similar genes for TGM5 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with TGM5: view

Variants for TGM5 Gene

Sequence variations from dbSNP and Humsavar for TGM5 Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type MAF
rs471122 -- 43,266,376(+) CAGTA(A/G)TAGAC intron-variant
rs473016 -- 43,266,625(+) CAAGC(A/C)GCTGT intron-variant
rs475227 -- 43,254,248(+) TATGT(C/G)CCCTC intron-variant
rs475261 -- 43,254,258(+) CTCCG(C/T)GTGAG intron-variant
rs491804 -- 43,268,627(+) CCCAC(A/G)GCTGC upstream-variant-2KB

Relevant External Links for TGM5 Gene

HapMap Linkage Disequilibrium report
TGM5
Human Gene Mutation Database (HGMD)
TGM5

No data available for Structural Variations from Database of Genomic Variants (DGV) for TGM5 Gene

Disorders for TGM5 Gene

(1) OMIM Diseases for TGM5 Gene (603805)

UniProtKB/Swiss-Prot

TGM5_HUMAN
  • Peeling skin syndrome 2 (PSS2) [MIM:609796]: A non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In APSS patients, skin peeling is painless and strictly limited to the dorsa of the hands and feet. It is accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction. {ECO:0000269 PubMed:16380904}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for TGM5

Genetic Association Database (GAD)
TGM5
Human Genome Epidemiology (HuGE) Navigator
TGM5
genes like me logo Genes that share disorders with TGM5: view

Publications for TGM5 Gene

  1. Isolation of a cDNA encoding a novel member of the transglutaminase gene family from human keratinocytes. Detection and identification of transglutaminase gene products based on reverse transcription- polymerase chain reaction with degenerate primers. (PMID: 9452468) Aeschlimann D. … Mosher D.F. (J. Biol. Chem. 1998) 2 3 4 23
  2. Evolution of transglutaminase genes: identification of a transglutaminase gene cluster on human chromosome 15q15. Structure of the gene encoding transglutaminase X and a novel gene family member, transglutaminase Z. (PMID: 11390390) Grenard P. … Aeschlimann D. (J. Biol. Chem. 2001) 2 3 4 23
  3. Transglutaminase 5 is acetylated at the N-terminal end. (PMID: 15290349) Rufini A. … Candi E. (Amino Acids 2004) 3 4 23
  4. A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. (PMID: 16380904) Cassidy A.J. … McLean W.H.I. (Am. J. Hum. Genet. 2005) 3 4 23
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4

Products for TGM5 Gene

Sources for TGM5 Gene

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