Seroatlas · Human Serome Atlas

TGM1

Protein-glutamine gamma-glutamyltransferase K

Also known as: ICR2, LI, LI1, TGASE, TGK, TGM1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: P22735
Gene: TGM1
Ensembl: ENSG00000092295
Chromosome: 14
Canonical length: 817 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Plasma proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Vesicles,Plasma membrane

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

817 residues, UniProt reviewed canonical sequence.

>P22735|TGM1
     1  MMDGPRSDVG RWGGNPLQPP TTPSPEPEPE PDGRSRRGGG RSFWARCCGC CSCRNAADDD
    61  WGPEPSDSRG RGSSSGTRRP GSRGSDSRRP VSRGSGVNAA GDGTIREGML VVNGVDLLSS
   121  RSDQNRREHH TDEYEYDELI VRRGQPFHML LLLSRTYESS DRITLELLIG NNPEVGKGTH
   181  VIIPVGKGGS GGWKAQVVKA SGQNLNLRVH TSPNAIIGKF QFTVRTQSDA GEFQLPFDPR
   241  NEIYILFNPW CPEDIVYVDH EDWRQEYVLN ESGRIYYGTE AQIGERTWNY GQFDHGVLDA
   301  CLYILDRRGM PYGGRGDPVN VSRVISAMVN SLDDNGVLIG NWSGDYSRGT NPSAWVGSVE
   361  ILLSYLRTGY SVPYGQCWVF AGVTTTVLRC LGLATRTVTN FNSAHDTDTS LTMDIYFDEN
   421  MKPLEHLNHD SVWNFHVWND CWMKRPDLPS GFDGWQVVDA TPQETSSGIF CCGPCSVESI
   481  KNGLVYMKYD TPFIFAEVNS DKVYWQRQDD GSFKIVYVEE KAIGTLIVTK AISSNMREDI
   541  TYLYKHPEGS DAERKAVETA AAHGSKPNVY ANRGSAEDVA MQVEAQDAVM GQDLMVSVML
   601  INHSSSRRTV KLHLYLSVTF YTGVSGTIFK ETKKEVELAP GASDRVTMPV AYKEYRPHLV
   661  DQGAMLLNVS GHVKESGQVL AKQHTFRLRT PDLSLTLLGA AVVGQECEVQ IVFKNPLPVT
   721  LTNVVFRLEG SGLQRPKILN VGDIGGNETV TLRQSFVPVR PGPRQLIASL DSPQLSQVHG
   781  VIQVDVAPAP GDGGFFSDAG GDSHLGETIP MASRGGA

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TGM1 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: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 698 nTPM

Expression across tissuesHPA

Tissue

esophagus: 698 nTPM
vagina: 143 nTPM
cervix: 105 nTPM
salivary gland: 80 nTPM
skin: 71 nTPM
tonsil: 38 nTPM

Single-cell type

esophageal apical cells: 99 nCPM
epicardial cells: 34 nCPM
esophageal suprabasal cells: 30 nCPM
suprabasal keratinocytes: 19 nCPM
ocular epithelial cells: 16 nCPM
mesothelial cells: 8.3 nCPM

Immune cell

memory CD4 T-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM
eosinophil: 0 nTPM
gdT-cell: 0 nTPM
intermediate monocyte: 0 nTPM

Brain region

cerebellum: 9.3 nTPM
cerebral cortex: 5.5 nTPM
medulla oblongata: 4.6 nTPM
pons: 4.5 nTPM
thalamus: 3.4 nTPM
choroid plexus: 3.3 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TGM1.

Disease | AllUniProt

Conditions TGM1 is implicated in, by any mechanism.

Ichthyosis, congenital, autosomal recessive 1 (ARCI1) MIM:242300

Disease | GeneticClinVar

301 pathogenic / likely-pathogenic of 1,200 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal recessive congenital ichthyosis 1
Lamellar ichthyosis
TGM1-related disorder
Abnormality of the skin
Ichthyosis and erythrokeratoderma

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): 0.93
gnomAD pLI: 0
gnomAD missense Z: -0.06
DepMap mean gene effect: -0.12
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TGM1 as an antibody target. Whether an autoantibody or antibody against TGM1 could matter depends on whether native TGM1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TGM1 is annotated at the cell surface, where native TGM1 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label TGM1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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