TGM5

Protein identityUniProt · HPA

UniProt accession

O43548

Gene

TGM5

Ensembl

ENSG00000104055

Chromosome

15

Canonical length

720 aa

Protein class

Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

720 residues, UniProt reviewed canonical sequence.

>O43548|TGM5
     1  MAQGLEVALT DLQSSRNNVR HHTEEITVDH LLVRRGQAFN LTLYFRNRSF QPGLDNIIFV
    61  VETGPLPDLA LGTRAVFSLA RHHSPSPWIA WLETNGATST EVSLCAPPTA AVGRYLLKIH
   121  IDSFQGSVTA YQLGEFILLF NPWCPEDAVY LDSEPQRQEY VMNDYGFIYQ GSKNWIRPCP
   181  WNYGQFEDKI IDICLKLLDK SLHFQTDPAT DCALRGSPVY VSRVVCAMIN SNDDNGVLNG
   241  NWSENYTDGA NPAEWTGSVA ILKQWNATGC QPVRYGQCWV FAAVMCTVMR CLGIPTRVIT
   301  NFDSGHDTDG NLIIDEYYDN TGRILGNKKK DTIWNFHVWN ECWMARKDLP PAYGGWQVLD
   361  ATPQEMSNGV YCCGPASVRA IKEGEVDLNY DTPFVFSMVN ADCMSWLVQG GKEQKLHQDT
   421  SSVGNFISTK SIQSDERDDI TENYKYEEGS LQERQVFLKA LQKLKARSFH GSQRGAELQP
   481  SRPTSLSQDS PRSLHTPSLR PSDVVQVSLK FKLLDPPNMG QDICFVLLAL NMSSQFKDLK
   541  VNLSAQSLLH DGSPLSPFWQ DTAFITLSPK EAKTYPCKIS YSQYSQYLST DKLIRISALG
   601  EEKSSPEKIL VNKIITLSYP SITINVLGAA VVNQPLSIQV IFSNPLSEQV EDCVLTVEGS
   661  GLFKKQQKVF LGVLKPQHQA SIILETVPFK SGQRQIQANM RSNKFKDIKG YRNVYVDFAL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TGM5 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.23

Highest tissue expression

37 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TGM5.

Disease | AllUniProt

Conditions TGM5 is implicated in, by any mechanism.

• Peeling skin syndrome 2 (PSS2) MIM:609796

Disease | GeneticClinVar

20 pathogenic / likely-pathogenic of 210 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Acral peeling skin syndrome
• Peeling skin syndrome 1
• Inborn genetic diseases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

1.44

gnomAD pLI

0

gnomAD missense Z

-0.32

DepMap mean gene effect

-0.03

DepMap dependency class

none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• epidermis development
• protein modification process

Molecular functions

• metal ion binding
• protein-glutamine gamma-glutamyltransferase activity

Cellular components

• cytoplasm
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Transglutaminase, N-terminal
• Transglutaminase-like
• Transglutaminase, C-terminal
• Immunoglobulin-like fold
• Transglutaminase, active site
• Immunoglobulin E-set
• Protein-glutamine gamma-glutamyltransferase, animal
• Transglutaminase, C-terminal domain superfamily
• Transglutaminase-like superfamily
• Papain-like cysteine peptidase superfamily
• Protein-glutamine gamma-glutamyltransferases
• Transglutaminase family
• Transglutaminase family, C-terminal ig like domain
• Transglutaminase-like superfamily

KeywordsUniProt

• Acetylation
• Acyltransferase
• Calcium
• Cytoplasm
• Metal-binding
• Transferase