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General description of the gene and the encoded protein(s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project.
Gene namei
Official gene symbol, which is typically a short form of the gene name, according to HGNC.
Assigned HPA protein class(es) for the encoded protein(s).
Disease related genes Enzymes Metabolic proteins Potential drug targets
Predicted locationi
All transcripts of all genes have been analyzed regarding the location(s) of corresponding protein based on prediction methods for signal peptides and transmembrane regions.
Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further annotated and classified with the aim to determine if the corresponding protein(s) are secreted or actually retained in intracellular locations or membrane-attached.
Remaining genes, with no transcript predicted to encode a secreted protein, will be assigned the prediction-based location(s).
The annotated location overrules the predicted location, so that a gene encoding a predicted secreted protein that has been annotated as intracellular will have intracellular as the final location.
Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Information was retrieved from Ensembl if not indicated otherwise.
Chromosome
20
Cytoband
q11.23
Chromosome location (bp)
38127385 - 38166578
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Calcium-dependent acyltransferase that catalyzes the formation of covalent bonds between peptide-bound glutamine and various primary amines, such as gamma-amino group of peptide-bound lysine, or mono- and polyamines, thereby producing cross-linked or aminated proteins, respectively 1,2,3. Involved in many biological processes, such as bone development, angiogenesis, wound healing, cellular differentiation, chromatin modification and apoptosis 4,5,6,7. Acts as a protein-glutamine gamma-glutamyltransferase by mediating the cross-linking of proteins, such as ACO2, HSPB6, FN1, HMGB1, RAP1GDS1, SLC25A4/ANT1, SPP1 and WDR54 8,9,10,11. Under physiological conditions, the protein cross-linking activity is inhibited by GTP; inhibition is relieved by Ca(2+) in response to various stresses 12,13,14. When secreted, catalyzes cross-linking of proteins of the extracellular matrix, such as FN1 and SPP1 resulting in the formation of scaffolds 15. Plays a key role during apoptosis, both by (1) promoting the cross-linking of cytoskeletal proteins resulting in condensation of the cytoplasm, and by (2) mediating cross-linking proteins of the extracellular matrix, resulting in the irreversible formation of scaffolds that stabilize the integrity of the dying cells before their clearance by phagocytosis, thereby preventing the leakage of harmful intracellular components 16,17. In addition to protein cross-linking, can use different monoamine substrates to catalyze a vast array of protein post-translational modifications: mediates aminylation of serotonin, dopamine, noradrenaline or histamine into glutamine residues of target proteins to generate protein serotonylation, dopaminylation, noradrenalinylation or histaminylation, respectively 18,19. Mediates protein serotonylation of small GTPases during activation and aggregation of platelets, leading to constitutive activation of these GTPases (By similarity). Plays a key role in chromatin organization by mediating serotonylation and dopaminylation of histone H3 20,21. Catalyzes serotonylation of 'Gln-5' of histone H3 (H3Q5ser) during serotonergic neuron differentiation, thereby facilitating transcription 22. Acts as a mediator of neurotransmission-independent role of nuclear dopamine in ventral tegmental area (VTA) neurons: catalyzes dopaminylation of 'Gln-5' of histone H3 (H3Q5dop), thereby regulating relapse-related transcriptional plasticity in the reward system 23. Regulates vein remodeling by mediating serotonylation and subsequent inactivation of ATP2A2/SERCA2 (By similarity). Also acts as a protein deamidase by mediating the side chain deamidation of specific glutamine residues of proteins to glutamate 24,25. Catalyzes specific deamidation of protein gliadin, a component of wheat gluten in the diet 26. May also act as an isopeptidase cleaving the previously formed cross-links 27,28. Also able to participate in signaling pathways independently of its acyltransferase activity: acts as a signal transducer in alpha-1 adrenergic receptor-mediated stimulation of phospholipase C-delta (PLCD) activity and is required for coupling alpha-1 adrenergic agonists to the stimulation of phosphoinositide lipid metabolism 29....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Acyltransferase, Hydrolase, Protease, Transferase
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Transglutaminases are enzymes that catalyze the crosslinking of proteins by epsilon-gamma glutamyl lysine isopeptide bonds. While the primary structure of transglutaminases is not conserved, they all have the same amino acid sequence at their active sites and their activity is calcium-dependent. The protein encoded by this gene acts as a monomer, is induced by retinoic acid, and appears to be involved in apoptosis. Finally, the encoded protein is the autoantigen implicated in celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]...show less
PROTEIN INFORMATIONi
The protein information section displays alternative protein-coding transcripts (splice variants) encoded by this gene according to the Ensembl database.
The ENSP identifier links to the Ensembl website protein summary, while the ENST identifier links to the Ensembl website transcript summary for the selected splice variant. The data in the UniProt column can be expanded to show links to all matching UniProt identifiers for this protein.
The protein classes assigned to this protein are shown if expanding the data in the protein class column. Parent protein classes are in bold font and subclasses are listed under the parent class.
The Gene Ontology terms assigned to this protein are listed if expanding the Gene ontology column. The length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide (according to a majority of the signal peptide predictors SPOCTOPUS, SignalP 4.0, and Phobius) and the number of predicted transmembrane region(s) (according to MDM) are also reported.
V9HWG3 [Target identity:100%; Query identity:100%] Epididymis secretory protein Li 45
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Enzymes ENZYME proteins Transferases Hydrolases Metabolic proteins SPOCTOPUS predicted membrane proteins THUMBUP predicted membrane proteins Predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Disease related genes Potential drug targets Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000166[nucleotide binding] GO:0000785[chromatin] GO:0003810[protein-glutamine gamma-glutamyltransferase activity] GO:0005509[calcium ion binding] GO:0005515[protein binding] GO:0005525[GTP binding] GO:0005576[extracellular region] GO:0005634[nucleus] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005739[mitochondrion] GO:0005783[endoplasmic reticulum] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005925[focal adhesion] GO:0006508[proteolysis] GO:0007200[phospholipase C-activating G protein-coupled receptor signaling pathway] GO:0008233[peptidase activity] GO:0016020[membrane] GO:0016570[histone modification] GO:0016740[transferase activity] GO:0016746[acyltransferase activity] GO:0016787[hydrolase activity] GO:0018149[peptide cross-linking] GO:0018277[protein deamination] GO:0031012[extracellular matrix] GO:0032471[negative regulation of endoplasmic reticulum calcium ion concentration] GO:0042981[regulation of apoptotic process] GO:0043065[positive regulation of apoptotic process] GO:0043277[apoptotic cell clearance] GO:0043547[positive regulation of GTPase activity] GO:0045785[positive regulation of cell adhesion] GO:0046872[metal ion binding] GO:0048471[perinuclear region of cytoplasm] GO:0050568[protein-glutamine glutaminase activity] GO:0050769[positive regulation of neurogenesis] GO:0051057[positive regulation of small GTPase mediated signal transduction] GO:0051561[positive regulation of mitochondrial calcium ion concentration] GO:0060348[bone development] GO:0060445[branching involved in salivary gland morphogenesis] GO:0060662[salivary gland cavitation] GO:0062023[collagen-containing extracellular matrix] GO:0070062[extracellular exosome] GO:0071314[cellular response to cocaine] GO:0120294[peptide serotonyltransferase activity] GO:0120295[histone serotonyltransferase activity] GO:0120296[peptide dopaminyltransferase activity] GO:0120297[histone dopaminyltransferase activity] GO:0120298[peptide noradrenalinyltransferase activity] GO:0120299[peptide histaminyltransferase activity] GO:1903351[cellular response to dopamine] GO:1904015[cellular response to serotonin] GO:2000425[regulation of apoptotic cell clearance]
Metabolic proteins THUMBUP predicted membrane proteins Predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
Metabolic proteins THUMBUP predicted membrane proteins Predicted secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Protein evidence (Ezkurdia et al 2014)
The Human Protein Atlas project is funded
