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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).
Enzymes
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
19
Cytoband
p13.3
Chromosome location (bp)
4007736 - 4039386
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Functions as an E3-type small ubiquitin-like modifier (SUMO) ligase, stabilizing the interaction between UBE2I and the substrate, and as a SUMO-tethering factor 1,2,3,4,5,6,7. Mediates sumoylation of ALKBH5, AXIN1, CEBPA, KLF8, GATA2, PARK7, HERC2, MYB, TCF4 and RNF168 8,9,10,11,12,13,14,15,16,17. Plays a crucial role as a transcriptional coregulation in various cellular pathways, including the STAT pathway, the p53/TP53 pathway, the Wnt pathway and the steroid hormone signaling pathway 18. Involved in gene silencing 19. In Wnt signaling, represses LEF1 and enhances TCF4 transcriptional activities through promoting their sumoylations 20,21. Enhances the sumoylation of MTA1 and may participate in its paralog-selective sumoylation 22. Binds to AT-rich DNA sequences, known as matrix or scaffold attachment regions (MARs/SARs) (By similarity). Catalyzes conjugation of SUMO2 to KAT5 in response to DNA damage, facilitating repair of DNA double-strand breaks (DSBs) via homologous recombination (HR) 23. Mediates sumoylation of PARP1 in response to PARP1 trapping to chromatin 24. Mediates sumoylation of KLF8, repressiing KLF8 transcriptional activity and cell cycle progression into G(1) phase 25. Sumoylates ALKBH5 downstream of MAPK8/JNK1 and MAPK9/JNK2 in response to reactive oxygen species (ROS), inhibiting ALKBH5 RNA demethylase activity 26....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
DNA-binding, Repressor, Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Metal-binding, Zinc
Gene summary (Entrez)i
Useful information about the gene from Entrez
Enables SUMO ligase activity and ubiquitin protein ligase binding activity. Involved in negative regulation of transcription, DNA-templated; positive regulation of protein sumoylation; and protein sumoylation. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Apr 2022]...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 Splice variant identifier links to the Ensembl website protein summary for the selected splice variant. The data in the Swissprot and TrEMBL columns links to corresponding pages in the UniProt database.
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 length of the protein (amino acid residues according to Ensembl), molecular mass (kDalton), predicted signal peptide and number of predicted transmembrane region(s) according to in-house majority decision methods based on sets of predictors are also reported.
Enzymes ENZYME proteins Transferases Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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:0000122[negative regulation of transcription by RNA polymerase II] GO:0001942[hair follicle development] GO:0003677[DNA binding] GO:0003712[transcription coregulator activity] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006302[double-strand break repair] GO:0006351[DNA-templated transcription] GO:0006357[regulation of transcription by RNA polymerase II] GO:0007417[central nervous system development] GO:0008022[protein C-terminus binding] GO:0008270[zinc ion binding] GO:0010804[negative regulation of tumor necrosis factor-mediated signaling pathway] GO:0016055[Wnt signaling pathway] GO:0016363[nuclear matrix] GO:0016605[PML body] GO:0016740[transferase activity] GO:0016925[protein sumoylation] GO:0019789[SUMO transferase activity] GO:0031625[ubiquitin protein ligase binding] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0033235[positive regulation of protein sumoylation] GO:0042359[vitamin D metabolic process] GO:0045892[negative regulation of DNA-templated transcription] GO:0046872[metal ion binding] GO:0060255[regulation of macromolecule metabolic process] GO:0060887[limb epidermis development] GO:0061665[SUMO ligase activity] GO:1902174[positive regulation of keratinocyte apoptotic process] GO:1902231[positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage] GO:1905168[positive regulation of double-strand break repair via homologous recombination] GO:1990234[transferase complex]
The Human Protein Atlas project is funded
