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Entry version 197 (13 Feb 2019)
Sequence version 4 (04 Jan 2005)
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Protein

Protein-glutamine gamma-glutamyltransferase K

Gene

TGM1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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. Involved in cell proliferation (PubMed:26220141).1 Publication

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Ca2+Note: Binds 1 Ca2+ ion per subunit.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section is used for enzymes and indicates the residues directly involved in catalysis.<p><a href='/help/act_site' target='_top'>More...</a></p>Active sitei377PROSITE-ProRule annotation1
Active sitei436PROSITE-ProRule annotation1
Active sitei459PROSITE-ProRule annotation1
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi499CalciumBy similarity1
Metal bindingi501CalciumBy similarity1
Metal bindingi548CalciumBy similarity1
Metal bindingi553CalciumBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

  • cell envelope organization Source: UniProtKB
  • cellular protein modification process Source: UniProtKB
  • cornification Source: Reactome
  • keratinocyte differentiation Source: UniProtKB
  • peptide cross-linking Source: CAFA
  • positive regulation of cell cycle Source: UniProtKB
  • positive regulation of keratinocyte proliferation Source: UniProtKB

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionAcyltransferase, Transferase
Biological processKeratinization
LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-6809371 Formation of the cornified envelope

SIGNOR Signaling Network Open Resource

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SIGNORi
P22735

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein-glutamine gamma-glutamyltransferase K (EC:2.3.2.13)
Alternative name(s):
Epidermal TGase
Transglutaminase K
Short name:
TG(K)
Short name:
TGK
Short name:
TGase K
Transglutaminase-1
Short name:
TGase-1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TGM1
Synonyms:KTG
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 14

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000092295.11

Human Gene Nomenclature Database

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HGNCi
HGNC:11777 TGM1

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
190195 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P22735

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Ichthyosis, congenital, autosomal recessive 1 (ARCI1)7 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:242300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_01522042S → Y in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 PublicationsCorresponds to variant dbSNP:rs41295338EnsemblClinVar.1
Natural variantiVAR_05863853C → S in ARCI1. 1
Natural variantiVAR_05863994G → D in ARCI1. Corresponds to variant dbSNP:rs121918729EnsemblClinVar.1
Natural variantiVAR_020918102D → V in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs398122901EnsemblClinVar.1
Natural variantiVAR_058640126R → C in ARCI1. Corresponds to variant dbSNP:rs397514524EnsemblClinVar.1
Natural variantiVAR_058641126R → H in ARCI1. Corresponds to variant dbSNP:rs200491579EnsemblClinVar.1
Natural variantiVAR_058642134Y → C in ARCI1. Corresponds to variant dbSNP:rs147916609EnsemblClinVar.1
Natural variantiVAR_058643142R → C in ARCI1. Corresponds to variant dbSNP:rs121918716EnsemblClinVar.1
Natural variantiVAR_007476142R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 PublicationsCorresponds to variant dbSNP:rs121918718EnsemblClinVar.1
Natural variantiVAR_058644142R → P in ARCI1. 1
Natural variantiVAR_007477143R → C in ARCI1; compound heterozygote with F-212; inhibits cell proliferation. 2 PublicationsCorresponds to variant dbSNP:rs531650682EnsemblClinVar.1
Natural variantiVAR_007478143R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918719EnsemblClinVar.1
Natural variantiVAR_058645144G → E in ARCI1. Corresponds to variant dbSNP:rs1465243895Ensembl.1
Natural variantiVAR_058646144G → R in ARCI1. Corresponds to variant dbSNP:rs778635368EnsemblClinVar.1
Natural variantiVAR_058647160S → C in ARCI1. Corresponds to variant dbSNP:rs121918728EnsemblClinVar.1
Natural variantiVAR_058648205L → Q in ARCI1. Corresponds to variant dbSNP:rs878853259EnsemblClinVar.1
Natural variantiVAR_058649209V → F in ARCI1. 1
Natural variantiVAR_075227212S → F in ARCI1; compound heterozygote with C-143; inhibits cell proliferation. 1 Publication1
Natural variantiVAR_007479218G → S in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918732EnsemblClinVar.1
Natural variantiVAR_058650225R → H in ARCI1. Corresponds to variant dbSNP:rs549195122EnsemblClinVar.1
Natural variantiVAR_058651225R → P in ARCI1. Corresponds to variant dbSNP:rs549195122EnsemblClinVar.1
Natural variantiVAR_058652243I → S in ARCI1. 1
Natural variantiVAR_058653249P → L in ARCI1. 1
Natural variantiVAR_058654264R → Q in ARCI1. Corresponds to variant dbSNP:rs781006633EnsemblClinVar.1
Natural variantiVAR_058655264R → W in ARCI1. Corresponds to variant dbSNP:rs201868387EnsemblClinVar.1
Natural variantiVAR_058656272S → P in ARCI1. Corresponds to variant dbSNP:rs764040146Ensembl.1
Natural variantiVAR_058657276Y → N in ARCI1. Corresponds to variant dbSNP:rs397514523EnsemblClinVar.1
Natural variantiVAR_058658278G → R in ARCI1. Corresponds to variant dbSNP:rs121918725EnsemblClinVar.1
Natural variantiVAR_058659285E → K in ARCI1. Corresponds to variant dbSNP:rs749721551Ensembl.1
Natural variantiVAR_058660286R → Q in ARCI1. Corresponds to variant dbSNP:rs121918727EnsemblClinVar.1
Natural variantiVAR_020919289N → T in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918730EnsemblClinVar.1
Natural variantiVAR_058661293F → V in ARCI1. 1
Natural variantiVAR_058662304I → F in ARCI1. Corresponds to variant dbSNP:rs753798494EnsemblClinVar.1
Natural variantiVAR_058663307R → G in ARCI1. 1 PublicationCorresponds to variant dbSNP:rs121918731EnsemblClinVar.1
Natural variantiVAR_020920307R → W in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918731EnsemblClinVar.1
Natural variantiVAR_058664315R → C in ARCI1. Corresponds to variant dbSNP:rs397514525EnsemblClinVar.1
Natural variantiVAR_058665315R → H in ARCI1. Corresponds to variant dbSNP:rs143473912EnsemblClinVar.1
Natural variantiVAR_058666315R → L in ARCI1. Corresponds to variant dbSNP:rs143473912EnsemblClinVar.1
Natural variantiVAR_015221323R → Q in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918717EnsemblClinVar.1
Natural variantiVAR_058667323R → W in ARCI1. Corresponds to variant dbSNP:rs771820315EnsemblClinVar.1
Natural variantiVAR_058668330N → H in ARCI1. 1
Natural variantiVAR_058669331S → P in ARCI1. 1
Natural variantiVAR_058670342W → R in ARCI1. 1
Natural variantiVAR_058671358S → R in ARCI1. Corresponds to variant dbSNP:rs779287673EnsemblClinVar.1
Natural variantiVAR_058672359V → M in ARCI1. Corresponds to variant dbSNP:rs202037016EnsemblClinVar.1
Natural variantiVAR_058673365Y → D in ARCI1. 1
Natural variantiVAR_058674366L → P in ARCI1. 1
Natural variantiVAR_007480379V → L in ARCI1. 1 PublicationCorresponds to variant dbSNP:rs121918720EnsemblClinVar.1
Natural variantiVAR_058675382G → R in ARCI1. 1
Natural variantiVAR_058676383V → M in ARCI1. Corresponds to variant dbSNP:rs121918722EnsemblClinVar.1
Natural variantiVAR_015222389R → H in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs121918723EnsemblClinVar.1
Natural variantiVAR_058677389R → P in ARCI1. Corresponds to variant dbSNP:rs121918723EnsemblClinVar.1
Natural variantiVAR_058678392G → D in ARCI1. Corresponds to variant dbSNP:rs121918726EnsemblClinVar.1
Natural variantiVAR_058679396R → H in ARCI1. Corresponds to variant dbSNP:rs121918721EnsemblClinVar.1
Natural variantiVAR_007481396R → L in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs121918721EnsemblClinVar.1
Natural variantiVAR_058680396R → S in ARCI1. 1
Natural variantiVAR_058681401F → V in ARCI1. Corresponds to variant dbSNP:rs991194429Ensembl.1
Natural variantiVAR_058682430D → V in ARCI1. 1
Natural variantiVAR_058683473G → S in ARCI1. Corresponds to variants dbSNP:rs904122716 and dbSNP:rs1057517838EnsemblClinVarEnsembl.1
Natural variantiVAR_058684490D → G in ARCI1. Corresponds to variant dbSNP:rs121918724EnsemblClinVar.1
Natural variantiVAR_058685520E → G in ARCI1. Corresponds to variant dbSNP:rs142404759EnsemblClinVar.1
Natural variantiVAR_058686544Y → C in ARCI1. Corresponds to variant dbSNP:rs1044429462Ensembl.1
Natural variantiVAR_058687687R → C in ARCI1. Corresponds to variant dbSNP:rs147516124EnsemblClinVar.1
Natural variantiVAR_058688687R → H in ARCI1. 1
Natural variantiVAR_058689764R → C in ARCI1. Corresponds to variant dbSNP:rs201853046EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

DisGeNET

More...
DisGeNETi
7051

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...
GeneReviewsi
TGM1

MalaCards human disease database

More...
MalaCardsi
TGM1
MIMi242300 phenotype

Open Targets

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OpenTargetsi
ENSG00000092295

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
281127 Acral self-healing collodion baby
100976 Bathing suit ichthyosis
79394 Congenital non-bullous ichthyosiform erythroderma
313 Lamellar ichthyosis
281122 Self-improving collodion baby

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA36490

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2810

Drug and drug target database

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DrugBanki
DB00130 L-Glutamine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TGM1

Domain mapping of disease mutations (DMDM)

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DMDMi
57015359

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002137011 – 817Protein-glutamine gamma-glutamyltransferase KAdd BLAST817

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei22PhosphothreonineBy similarity1
Modified residuei24Phosphoserine1 Publication1
Modified residuei68PhosphoserineBy similarity1
Modified residuei82Phosphoserine1 Publication1
Modified residuei85Phosphoserine1 Publication1
Modified residuei92Phosphoserine1 Publication1
Modified residuei95PhosphoserineBy similarity1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

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 form.1 Publication

Keywords - PTMi

Lipoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P22735

MaxQB - The MaxQuant DataBase

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MaxQBi
P22735

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P22735

PeptideAtlas

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PeptideAtlasi
P22735

PRoteomics IDEntifications database

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PRIDEi
P22735

ProteomicsDB human proteome resource

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ProteomicsDBi
54031

PTM databases

CarbonylDB database of protein carbonylation sites

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CarbonylDBi
P22735

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P22735

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P22735

SwissPalm database of S-palmitoylation events

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SwissPalmi
P22735

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000092295 Expressed in 115 organ(s), highest expression level in lower esophagus mucosa

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P22735 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P22735 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB015159
HPA040171

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112909, 45 interactors

Protein interaction database and analysis system

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IntActi
P22735, 34 interactors

Molecular INTeraction database

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MINTi
P22735

STRING: functional protein association networks

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STRINGi
9606.ENSP00000206765

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P22735

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

1817
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Select the link destinations:

Protein Data Bank Europe

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PDBei

Protein Data Bank RCSB

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RCSB PDBi

Protein Data Bank Japan

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PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XZZX-ray2.30A693-787[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P22735

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P22735

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 100Membrane anchorage regionAdd BLAST100

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IFMV Eukaryota
ENOG410XQEZ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000154933

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231695

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG004342

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P22735

KEGG Orthology (KO)

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KOi
K05619

Identification of Orthologs from Complete Genome Data

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OMAi
NMREDIT

Database of Orthologous Groups

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OrthoDBi
692811at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P22735

TreeFam database of animal gene trees

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TreeFami
TF324278

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.60.40.10, 3 hits
3.90.260.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR038765 Papain_like_cys_pep_sf
IPR002931 Transglutaminase-like
IPR036985 Transglutaminase-like_sf
IPR023608 Transglutaminase_animal
IPR013808 Transglutaminase_AS
IPR008958 Transglutaminase_C
IPR036238 Transglutaminase_C_sf
IPR001102 Transglutaminase_N

Pfam protein domain database

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Pfami
View protein in Pfam
PF00927 Transglut_C, 2 hits
PF01841 Transglut_core, 1 hit
PF00868 Transglut_N, 1 hit

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF000459 TGM_EBP42, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00460 TGc, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF49309 SSF49309, 2 hits
SSF54001 SSF54001, 1 hit
SSF81296 SSF81296, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00547 TRANSGLUTAMINASES, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 2 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P22735-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MMDGPRSDVG RWGGNPLQPP TTPSPEPEPE PDGRSRRGGG RSFWARCCGC
60 70 80 90 100
CSCRNAADDD WGPEPSDSRG RGSSSGTRRP GSRGSDSRRP VSRGSGVNAA
110 120 130 140 150
GDGTIREGML VVNGVDLLSS RSDQNRREHH TDEYEYDELI VRRGQPFHML
160 170 180 190 200
LLLSRTYESS DRITLELLIG NNPEVGKGTH VIIPVGKGGS GGWKAQVVKA
210 220 230 240 250
SGQNLNLRVH TSPNAIIGKF QFTVRTQSDA GEFQLPFDPR NEIYILFNPW
260 270 280 290 300
CPEDIVYVDH EDWRQEYVLN ESGRIYYGTE AQIGERTWNY GQFDHGVLDA
310 320 330 340 350
CLYILDRRGM PYGGRGDPVN VSRVISAMVN SLDDNGVLIG NWSGDYSRGT
360 370 380 390 400
NPSAWVGSVE ILLSYLRTGY SVPYGQCWVF AGVTTTVLRC LGLATRTVTN
410 420 430 440 450
FNSAHDTDTS LTMDIYFDEN MKPLEHLNHD SVWNFHVWND CWMKRPDLPS
460 470 480 490 500
GFDGWQVVDA TPQETSSGIF CCGPCSVESI KNGLVYMKYD TPFIFAEVNS
510 520 530 540 550
DKVYWQRQDD GSFKIVYVEE KAIGTLIVTK AISSNMREDI TYLYKHPEGS
560 570 580 590 600
DAERKAVETA AAHGSKPNVY ANRGSAEDVA MQVEAQDAVM GQDLMVSVML
610 620 630 640 650
INHSSSRRTV KLHLYLSVTF YTGVSGTIFK ETKKEVELAP GASDRVTMPV
660 670 680 690 700
AYKEYRPHLV DQGAMLLNVS GHVKESGQVL AKQHTFRLRT PDLSLTLLGA
710 720 730 740 750
AVVGQECEVQ IVFKNPLPVT LTNVVFRLEG SGLQRPKILN VGDIGGNETV
760 770 780 790 800
TLRQSFVPVR PGPRQLIASL DSPQLSQVHG VIQVDVAPAP GDGGFFSDAG
810
GDSHLGETIP MASRGGA
Length:817
Mass (Da):89,787
Last modified:January 4, 2005 - v4
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i4732F28234F5D5F1
GO
Isoform 2 (identifier: P22735-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-442: Missing.

Note: No experimental confirmation available.
Show »
Length:375
Mass (Da):40,628
Checksum:i8155D17B2CF94BA7
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0YMQ8H0YMQ8_HUMAN
Protein-glutamine gamma-glutamyltra...
TGM1
128Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YLT9H0YLT9_HUMAN
Protein-glutamine gamma-glutamyltra...
TGM1
209Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YN27H0YN27_HUMAN
Protein-glutamine gamma-glutamyltra...
TGM1
135Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YNM4H0YNM4_HUMAN
Protein-glutamine gamma-glutamyltra...
TGM1
42Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YLJ6H0YLJ6_HUMAN
Protein-glutamine gamma-glutamyltra...
TGM1
50Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
H0YKI6H0YKI6_HUMAN
Protein-glutamine gamma-glutamyltra...
TGM1
64Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0G2JL93A0A0G2JL93_HUMAN
Protein-glutamine gamma-glutamyltra...
TGM1
9Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAA61166 differs from that shown. Reason: Frameshift at position 16.Curated
The sequence M86360 differs from that shown. Reason: Frameshift at positions 16, 421 and 651.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti119 – 120Missing in M86360 (PubMed:1348508).Curated2
Sequence conflicti301C → A in AAA61156 (PubMed:1346394).Curated1
Sequence conflicti508Q → H in M86360 (PubMed:1348508).Curated1
Sequence conflicti551D → E in M86360 (PubMed:1348508).Curated1
Sequence conflicti554R → A in AAA61166 (PubMed:1670769).Curated1
Sequence conflicti669V → I in AAA61166 (PubMed:1670769).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01522042S → Y in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 PublicationsCorresponds to variant dbSNP:rs41295338EnsemblClinVar.1
Natural variantiVAR_05863853C → S in ARCI1. 1
Natural variantiVAR_05863994G → D in ARCI1. Corresponds to variant dbSNP:rs121918729EnsemblClinVar.1
Natural variantiVAR_020918102D → V in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs398122901EnsemblClinVar.1
Natural variantiVAR_058640126R → C in ARCI1. Corresponds to variant dbSNP:rs397514524EnsemblClinVar.1
Natural variantiVAR_058641126R → H in ARCI1. Corresponds to variant dbSNP:rs200491579EnsemblClinVar.1
Natural variantiVAR_029268132D → N. Corresponds to variant dbSNP:rs2229462Ensembl.1
Natural variantiVAR_058642134Y → C in ARCI1. Corresponds to variant dbSNP:rs147916609EnsemblClinVar.1
Natural variantiVAR_058643142R → C in ARCI1. Corresponds to variant dbSNP:rs121918716EnsemblClinVar.1
Natural variantiVAR_007476142R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 2 PublicationsCorresponds to variant dbSNP:rs121918718EnsemblClinVar.1
Natural variantiVAR_058644142R → P in ARCI1. 1
Natural variantiVAR_007477143R → C in ARCI1; compound heterozygote with F-212; inhibits cell proliferation. 2 PublicationsCorresponds to variant dbSNP:rs531650682EnsemblClinVar.1
Natural variantiVAR_007478143R → H in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918719EnsemblClinVar.1
Natural variantiVAR_058645144G → E in ARCI1. Corresponds to variant dbSNP:rs1465243895Ensembl.1
Natural variantiVAR_058646144G → R in ARCI1. Corresponds to variant dbSNP:rs778635368EnsemblClinVar.1
Natural variantiVAR_058647160S → C in ARCI1. Corresponds to variant dbSNP:rs121918728EnsemblClinVar.1
Natural variantiVAR_058648205L → Q in ARCI1. Corresponds to variant dbSNP:rs878853259EnsemblClinVar.1
Natural variantiVAR_058649209V → F in ARCI1. 1
Natural variantiVAR_075227212S → F in ARCI1; compound heterozygote with C-143; inhibits cell proliferation. 1 Publication1
Natural variantiVAR_007479218G → S in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918732EnsemblClinVar.1
Natural variantiVAR_058650225R → H in ARCI1. Corresponds to variant dbSNP:rs549195122EnsemblClinVar.1
Natural variantiVAR_058651225R → P in ARCI1. Corresponds to variant dbSNP:rs549195122EnsemblClinVar.1
Natural variantiVAR_058652243I → S in ARCI1. 1
Natural variantiVAR_058653249P → L in ARCI1. 1
Natural variantiVAR_058654264R → Q in ARCI1. Corresponds to variant dbSNP:rs781006633EnsemblClinVar.1
Natural variantiVAR_058655264R → W in ARCI1. Corresponds to variant dbSNP:rs201868387EnsemblClinVar.1
Natural variantiVAR_058656272S → P in ARCI1. Corresponds to variant dbSNP:rs764040146Ensembl.1
Natural variantiVAR_058657276Y → N in ARCI1. Corresponds to variant dbSNP:rs397514523EnsemblClinVar.1
Natural variantiVAR_058658278G → R in ARCI1. Corresponds to variant dbSNP:rs121918725EnsemblClinVar.1
Natural variantiVAR_058659285E → K in ARCI1. Corresponds to variant dbSNP:rs749721551Ensembl.1
Natural variantiVAR_058660286R → Q in ARCI1. Corresponds to variant dbSNP:rs121918727EnsemblClinVar.1
Natural variantiVAR_020919289N → T in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918730EnsemblClinVar.1
Natural variantiVAR_058661293F → V in ARCI1. 1
Natural variantiVAR_058662304I → F in ARCI1. Corresponds to variant dbSNP:rs753798494EnsemblClinVar.1
Natural variantiVAR_058663307R → G in ARCI1. 1 PublicationCorresponds to variant dbSNP:rs121918731EnsemblClinVar.1
Natural variantiVAR_020920307R → W in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918731EnsemblClinVar.1
Natural variantiVAR_058664315R → C in ARCI1. Corresponds to variant dbSNP:rs397514525EnsemblClinVar.1
Natural variantiVAR_058665315R → H in ARCI1. Corresponds to variant dbSNP:rs143473912EnsemblClinVar.1
Natural variantiVAR_058666315R → L in ARCI1. Corresponds to variant dbSNP:rs143473912EnsemblClinVar.1
Natural variantiVAR_015221323R → Q in ARCI1; skin phenotype consistent with lamellar ichthyosis. 1 PublicationCorresponds to variant dbSNP:rs121918717EnsemblClinVar.1
Natural variantiVAR_058667323R → W in ARCI1. Corresponds to variant dbSNP:rs771820315EnsemblClinVar.1
Natural variantiVAR_058668330N → H in ARCI1. 1
Natural variantiVAR_058669331S → P in ARCI1. 1
Natural variantiVAR_058670342W → R in ARCI1. 1
Natural variantiVAR_058671358S → R in ARCI1. Corresponds to variant dbSNP:rs779287673EnsemblClinVar.1
Natural variantiVAR_058672359V → M in ARCI1. Corresponds to variant dbSNP:rs202037016EnsemblClinVar.1
Natural variantiVAR_058673365Y → D in ARCI1. 1
Natural variantiVAR_058674366L → P in ARCI1. 1
Natural variantiVAR_055374372V → I1 PublicationCorresponds to variant dbSNP:rs41293794Ensembl.1
Natural variantiVAR_007480379V → L in ARCI1. 1 PublicationCorresponds to variant dbSNP:rs121918720EnsemblClinVar.1
Natural variantiVAR_058675382G → R in ARCI1. 1
Natural variantiVAR_058676383V → M in ARCI1. Corresponds to variant dbSNP:rs121918722EnsemblClinVar.1
Natural variantiVAR_015222389R → H in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs121918723EnsemblClinVar.1
Natural variantiVAR_058677389R → P in ARCI1. Corresponds to variant dbSNP:rs121918723EnsemblClinVar.1
Natural variantiVAR_058678392G → D in ARCI1. Corresponds to variant dbSNP:rs121918726EnsemblClinVar.1
Natural variantiVAR_058679396R → H in ARCI1. Corresponds to variant dbSNP:rs121918721EnsemblClinVar.1
Natural variantiVAR_007481396R → L in ARCI1; skin phenotype consistent with non-bullous congenital ichthyosiform erythroderma. 1 PublicationCorresponds to variant dbSNP:rs121918721EnsemblClinVar.1
Natural variantiVAR_058680396R → S in ARCI1. 1
Natural variantiVAR_058681401F → V in ARCI1. Corresponds to variant dbSNP:rs991194429Ensembl.1
Natural variantiVAR_058682430D → V in ARCI1. 1
Natural variantiVAR_058683473G → S in ARCI1. Corresponds to variants dbSNP:rs904122716 and dbSNP:rs1057517838EnsemblClinVarEnsembl.1
Natural variantiVAR_058684490D → G in ARCI1. Corresponds to variant dbSNP:rs121918724EnsemblClinVar.1
Natural variantiVAR_052550518V → M1 PublicationCorresponds to variant dbSNP:rs35312232EnsemblClinVar.1
Natural variantiVAR_058685520E → G in ARCI1. Corresponds to variant dbSNP:rs142404759EnsemblClinVar.1
Natural variantiVAR_058686544Y → C in ARCI1. Corresponds to variant dbSNP:rs1044429462Ensembl.1
Natural variantiVAR_052551607R → C1 PublicationCorresponds to variant dbSNP:rs2229464Ensembl.1
Natural variantiVAR_058687687R → C in ARCI1. Corresponds to variant dbSNP:rs147516124EnsemblClinVar.1
Natural variantiVAR_058688687R → H in ARCI1. 1
Natural variantiVAR_052552755S → L1 PublicationCorresponds to variant dbSNP:rs35926651EnsemblClinVar.1
Natural variantiVAR_058689764R → C in ARCI1. Corresponds to variant dbSNP:rs201853046EnsemblClinVar.1
Natural variantiVAR_024660802D → V1 PublicationCorresponds to variant dbSNP:rs2228337Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0568401 – 442Missing in isoform 2. 1 PublicationAdd BLAST442

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
M55183 mRNA Translation: AAA59474.1
D90287 mRNA Translation: BAA14329.1
M62925 mRNA Translation: AAA61166.1 Frameshift.
M83230
, M83227, M83228, M83229 Genomic DNA Translation: AAA61156.1
M86360 Genomic DNA No translation available.
D10353 Genomic DNA Translation: BAA34203.1
M98447 Genomic DNA Translation: AAA96667.1
AK301652 mRNA Translation: BAG63129.1
AK315843 mRNA Translation: BAF98734.1
DQ640500 Genomic DNA Translation: ABF70204.1
AL096870 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW66047.1
BC034699 mRNA Translation: AAH34699.1
X57974 mRNA Translation: CAA41040.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS9622.1 [P22735-1]

Protein sequence database of the Protein Information Resource

More...
PIRi
A43401 TGHUM1

NCBI Reference Sequences

More...
RefSeqi
NP_000350.1, NM_000359.2 [P22735-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.508950

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000206765; ENSP00000206765; ENSG00000092295 [P22735-1]
ENST00000544573; ENSP00000439446; ENSG00000092295 [P22735-2]
ENST00000642845; ENSP00000493587; ENSG00000285348 [P22735-1]
ENST00000646057; ENSP00000496483; ENSG00000285348 [P22735-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
7051

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:7051

UCSC genome browser

More...
UCSCi
uc001wod.3 human [P22735-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M55183 mRNA Translation: AAA59474.1
D90287 mRNA Translation: BAA14329.1
M62925 mRNA Translation: AAA61166.1 Frameshift.
M83230
, M83227, M83228, M83229 Genomic DNA Translation: AAA61156.1
M86360 Genomic DNA No translation available.
D10353 Genomic DNA Translation: BAA34203.1
M98447 Genomic DNA Translation: AAA96667.1
AK301652 mRNA Translation: BAG63129.1
AK315843 mRNA Translation: BAF98734.1
DQ640500 Genomic DNA Translation: ABF70204.1
AL096870 Genomic DNA No translation available.
CH471078 Genomic DNA Translation: EAW66047.1
BC034699 mRNA Translation: AAH34699.1
X57974 mRNA Translation: CAA41040.1
CCDSiCCDS9622.1 [P22735-1]
PIRiA43401 TGHUM1
RefSeqiNP_000350.1, NM_000359.2 [P22735-1]
UniGeneiHs.508950

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
2XZZX-ray2.30A693-787[»]
ProteinModelPortaliP22735
SMRiP22735
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112909, 45 interactors
IntActiP22735, 34 interactors
MINTiP22735
STRINGi9606.ENSP00000206765

Chemistry databases

BindingDBiP22735
ChEMBLiCHEMBL2810
DrugBankiDB00130 L-Glutamine

PTM databases

CarbonylDBiP22735
iPTMnetiP22735
PhosphoSitePlusiP22735
SwissPalmiP22735

Polymorphism and mutation databases

BioMutaiTGM1
DMDMi57015359

Proteomic databases

EPDiP22735
MaxQBiP22735
PaxDbiP22735
PeptideAtlasiP22735
PRIDEiP22735
ProteomicsDBi54031

Protocols and materials databases

The DNASU plasmid repository

More...
DNASUi
7051
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000206765; ENSP00000206765; ENSG00000092295 [P22735-1]
ENST00000544573; ENSP00000439446; ENSG00000092295 [P22735-2]
ENST00000642845; ENSP00000493587; ENSG00000285348 [P22735-1]
ENST00000646057; ENSP00000496483; ENSG00000285348 [P22735-2]
GeneIDi7051
KEGGihsa:7051
UCSCiuc001wod.3 human [P22735-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
7051
DisGeNETi7051
EuPathDBiHostDB:ENSG00000092295.11

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TGM1
GeneReviewsiTGM1
HGNCiHGNC:11777 TGM1
HPAiCAB015159
HPA040171
MalaCardsiTGM1
MIMi190195 gene
242300 phenotype
neXtProtiNX_P22735
OpenTargetsiENSG00000092295
Orphaneti281127 Acral self-healing collodion baby
100976 Bathing suit ichthyosis
79394 Congenital non-bullous ichthyosiform erythroderma
313 Lamellar ichthyosis
281122 Self-improving collodion baby
PharmGKBiPA36490

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFMV Eukaryota
ENOG410XQEZ LUCA
GeneTreeiENSGT00940000154933
HOGENOMiHOG000231695
HOVERGENiHBG004342
InParanoidiP22735
KOiK05619
OMAiNMREDIT
OrthoDBi692811at2759
PhylomeDBiP22735
TreeFamiTF324278

Enzyme and pathway databases

ReactomeiR-HSA-6809371 Formation of the cornified envelope
SIGNORiP22735

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
Keratinocyte_transglutaminase

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
7051

Protein Ontology

More...
PROi
PR:P22735

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000092295 Expressed in 115 organ(s), highest expression level in lower esophagus mucosa
ExpressionAtlasiP22735 baseline and differential
GenevisibleiP22735 HS

Family and domain databases

Gene3Di2.60.40.10, 3 hits
3.90.260.10, 1 hit
InterProiView protein in InterPro
IPR013783 Ig-like_fold
IPR014756 Ig_E-set
IPR038765 Papain_like_cys_pep_sf
IPR002931 Transglutaminase-like
IPR036985 Transglutaminase-like_sf
IPR023608 Transglutaminase_animal
IPR013808 Transglutaminase_AS
IPR008958 Transglutaminase_C
IPR036238 Transglutaminase_C_sf
IPR001102 Transglutaminase_N
PfamiView protein in Pfam
PF00927 Transglut_C, 2 hits
PF01841 Transglut_core, 1 hit
PF00868 Transglut_N, 1 hit
PIRSFiPIRSF000459 TGM_EBP42, 1 hit
SMARTiView protein in SMART
SM00460 TGc, 1 hit
SUPFAMiSSF49309 SSF49309, 2 hits
SSF54001 SSF54001, 1 hit
SSF81296 SSF81296, 1 hit
PROSITEiView protein in PROSITE
PS00547 TRANSGLUTAMINASES, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTGM1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P22735
Secondary accession number(s): B4DWR7, Q197M4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1991
Last sequence update: January 4, 2005
Last modified: February 13, 2019
This is version 197 of the entry and version 4 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 14
    Human chromosome 14: entries, gene names and cross-references to MIM
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  6. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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