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Protein

Protein-glutamine gamma-glutamyltransferase 5

Gene

TGM5

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. Contributes to the formation of the cornified cell envelope of keratinocytes.

<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+By similarityNote: Binds 1 Ca2+ ion per subunit.By similarity

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 sitei278PROSITE-ProRule annotation1
Active sitei337PROSITE-ProRule annotation1
Active sitei360PROSITE-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 bindingi400CalciumBy similarity1
Metal bindingi402CalciumBy similarity1
Metal bindingi448CalciumBy similarity1
Metal bindingi453CalciumBy 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

  • cellular protein modification process Source: ProtInc
  • cornification Source: Reactome
  • epidermis development Source: ProtInc
  • peptide cross-linking Source: InterPro

<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
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

<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 5 (EC:2.3.2.13)
Alternative name(s):
Transglutaminase X
Short name:
TG(X)
Short name:
TGX
Short name:
TGase X
Transglutaminase-5
Short name:
TGase-5
<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:TGM5
Synonyms:TGMX
<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 15

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000104055.14

Human Gene Nomenclature Database

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HGNCi
HGNC:11781 TGM5

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603805 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_O43548

<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

Cytoplasm

<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

Peeling skin syndrome 2 (PSS2)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In PSS2 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.
See also OMIM:609796
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_025849113G → C in PSS2; completely abolishes the enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs112292549EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
9333

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

More...
GeneReviewsi
TGM5

MalaCards human disease database

More...
MalaCardsi
TGM5
MIMi609796 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000104055

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

More...
Orphaneti
263534 Acral peeling skin syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA36494

Chemistry databases

Drug and drug target database

More...
DrugBanki
DB00130 L-Glutamine

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TGM5

<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 <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemoved1 Publication
<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_00002137132 – 720Protein-glutamine gamma-glutamyltransferase 5Add BLAST719

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 residuei2N-acetylalanine1 Publication1

Keywords - PTMi

Acetylation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
O43548

MaxQB - The MaxQuant DataBase

More...
MaxQBi
O43548

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

More...
PaxDbi
O43548

PeptideAtlas

More...
PeptideAtlasi
O43548

PRoteomics IDEntifications database

More...
PRIDEi
O43548

ProteomicsDB human proteome resource

More...
ProteomicsDBi
49043
49044 [O43548-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
O43548

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

More...
PhosphoSitePlusi
O43548

<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

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed in foreskin keratinocytes.

<p>This subsection of the ‘Expression’ section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

By 12-O-tetradecanoylphorbol-13-acetate (TPA) and calcium in NHEK cells.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000104055 Expressed in 117 organ(s), highest expression level in skin of abdomen

CleanEx database of gene expression profiles

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CleanExi
HS_TGM5

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
O43548 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
O43548 HS

<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
114742, 13 interactors

Protein interaction database and analysis system

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IntActi
O43548, 5 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000220420

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
O43548

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

More...
SMRi
O43548

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
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

<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

More...
eggNOGi
ENOG410IFMV Eukaryota
ENOG410XQEZ LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000153315

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
O43548

KEGG Orthology (KO)

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KOi
K05622

Database of Orthologous Groups

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OrthoDBi
297055at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
O43548

TreeFam database of animal gene trees

More...
TreeFami
TF324278

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
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

More...
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

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

PROSITE; a protein domain and family database

More...
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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

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 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform Long (identifier: O43548-1) [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
MAQGLEVALT DLQSSRNNVR HHTEEITVDH LLVRRGQAFN LTLYFRNRSF
60 70 80 90 100
QPGLDNIIFV VETGPLPDLA LGTRAVFSLA RHHSPSPWIA WLETNGATST
110 120 130 140 150
EVSLCAPPTA AVGRYLLKIH IDSFQGSVTA YQLGEFILLF NPWCPEDAVY
160 170 180 190 200
LDSEPQRQEY VMNDYGFIYQ GSKNWIRPCP WNYGQFEDKI IDICLKLLDK
210 220 230 240 250
SLHFQTDPAT DCALRGSPVY VSRVVCAMIN SNDDNGVLNG NWSENYTDGA
260 270 280 290 300
NPAEWTGSVA ILKQWNATGC QPVRYGQCWV FAAVMCTVMR CLGIPTRVIT
310 320 330 340 350
NFDSGHDTDG NLIIDEYYDN TGRILGNKKK DTIWNFHVWN ECWMARKDLP
360 370 380 390 400
PAYGGWQVLD ATPQEMSNGV YCCGPASVRA IKEGEVDLNY DTPFVFSMVN
410 420 430 440 450
ADCMSWLVQG GKEQKLHQDT SSVGNFISTK SIQSDERDDI TENYKYEEGS
460 470 480 490 500
LQERQVFLKA LQKLKARSFH GSQRGAELQP SRPTSLSQDS PRSLHTPSLR
510 520 530 540 550
PSDVVQVSLK FKLLDPPNMG QDICFVLLAL NMSSQFKDLK VNLSAQSLLH
560 570 580 590 600
DGSPLSPFWQ DTAFITLSPK EAKTYPCKIS YSQYSQYLST DKLIRISALG
610 620 630 640 650
EEKSSPEKIL VNKIITLSYP SITINVLGAA VVNQPLSIQV IFSNPLSEQV
660 670 680 690 700
EDCVLTVEGS GLFKKQQKVF LGVLKPQHQA SIILETVPFK SGQRQIQANM
710 720
RSNKFKDIKG YRNVYVDFAL
Length:720
Mass (Da):80,778
Last modified:January 23, 2007 - 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:i9CF68884B48BAE1C
GO
Isoform Short (identifier: O43548-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     64-145: Missing.

Show »
Length:638
Mass (Da):71,919
Checksum:i8BCA7AAE9430D220
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 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WVS3A0A087WVS3_HUMAN
Protein-glutamine gamma-glutamyltra...
TGM5
721Annotation 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>
A0A087WVW4A0A087WVW4_HUMAN
Protein-glutamine gamma-glutamyltra...
TGM5
719Annotation 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>
A0A087WZC4A0A087WZC4_HUMAN
Protein-glutamine gamma-glutamyltra...
TGM5
637Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_01324867P → S1 PublicationCorresponds to variant dbSNP:rs757598618Ensembl.1
Natural variantiVAR_025848109T → M1 PublicationCorresponds to variant dbSNP:rs113463533EnsemblClinVar.1
Natural variantiVAR_025849113G → C in PSS2; completely abolishes the enzyme activity. 1 PublicationCorresponds to variant dbSNP:rs112292549EnsemblClinVar.1
Natural variantiVAR_013249352A → G1 PublicationCorresponds to variant dbSNP:rs28756768EnsemblClinVar.1
Natural variantiVAR_052564504V → M. Corresponds to variant dbSNP:rs7171797EnsemblClinVar.1
Natural variantiVAR_052565521Q → R. Corresponds to variant dbSNP:rs35985214EnsemblClinVar.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. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_00641564 – 145Missing in isoform Short. 1 PublicationAdd BLAST82

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF035960 mRNA Translation: AAC02978.1
AF035961 mRNA Translation: AAC02979.1
AF206510
, AF206502, AF206503, AF206504, AF206505, AF206506, AF206507, AF206508, AF206509 Genomic DNA Translation: AAF23981.1
BC119009 mRNA Translation: AAI19010.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS32211.1 [O43548-2]
CCDS32212.1 [O43548-1]

NCBI Reference Sequences

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RefSeqi
NP_004236.1, NM_004245.3 [O43548-2]
NP_963925.2, NM_201631.3 [O43548-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.129719

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000220420; ENSP00000220420; ENSG00000104055 [O43548-1]
ENST00000349114; ENSP00000220419; ENSG00000104055 [O43548-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
9333

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:9333

UCSC genome browser

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UCSCi
uc001zrd.2 human [O43548-1]

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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF035960 mRNA Translation: AAC02978.1
AF035961 mRNA Translation: AAC02979.1
AF206510
, AF206502, AF206503, AF206504, AF206505, AF206506, AF206507, AF206508, AF206509 Genomic DNA Translation: AAF23981.1
BC119009 mRNA Translation: AAI19010.1
CCDSiCCDS32211.1 [O43548-2]
CCDS32212.1 [O43548-1]
RefSeqiNP_004236.1, NM_004245.3 [O43548-2]
NP_963925.2, NM_201631.3 [O43548-1]
UniGeneiHs.129719

3D structure databases

ProteinModelPortaliO43548
SMRiO43548
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114742, 13 interactors
IntActiO43548, 5 interactors
STRINGi9606.ENSP00000220420

Chemistry databases

DrugBankiDB00130 L-Glutamine

PTM databases

iPTMnetiO43548
PhosphoSitePlusiO43548

Polymorphism and mutation databases

BioMutaiTGM5

Proteomic databases

jPOSTiO43548
MaxQBiO43548
PaxDbiO43548
PeptideAtlasiO43548
PRIDEiO43548
ProteomicsDBi49043
49044 [O43548-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000220420; ENSP00000220420; ENSG00000104055 [O43548-1]
ENST00000349114; ENSP00000220419; ENSG00000104055 [O43548-2]
GeneIDi9333
KEGGihsa:9333
UCSCiuc001zrd.2 human [O43548-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
9333
DisGeNETi9333
EuPathDBiHostDB:ENSG00000104055.14

GeneCards: human genes, protein and diseases

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GeneCardsi
TGM5
GeneReviewsiTGM5
HGNCiHGNC:11781 TGM5
MalaCardsiTGM5
MIMi603805 gene
609796 phenotype
neXtProtiNX_O43548
OpenTargetsiENSG00000104055
Orphaneti263534 Acral peeling skin syndrome
PharmGKBiPA36494

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IFMV Eukaryota
ENOG410XQEZ LUCA
GeneTreeiENSGT00940000153315
HOGENOMiHOG000231695
HOVERGENiHBG004342
InParanoidiO43548
KOiK05622
OrthoDBi297055at2759
PhylomeDBiO43548
TreeFamiTF324278

Enzyme and pathway databases

ReactomeiR-HSA-6809371 Formation of the cornified envelope

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
TGM5 human

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

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GenomeRNAii
9333

Protein Ontology

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PROi
PR:O43548

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000104055 Expressed in 117 organ(s), highest expression level in skin of abdomen
CleanExiHS_TGM5
ExpressionAtlasiO43548 baseline and differential
GenevisibleiO43548 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 nameiTGM5_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: O43548
Secondary accession number(s): O43549, Q0VF40, Q9UEZ4
<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: July 15, 1999
Last sequence update: January 23, 2007
Last modified: January 16, 2019
This is version 164 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

Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
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