We use cookies to enhance the usability of our website. If you continue, we'll assume that you are happy to receive all cookies. More information. Don't show this again.
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.
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
6
Cytoband
q16.1
Chromosome location (bp)
96521595 - 96555276
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
E3 protein ligase that mediates ufmylation, the covalent attachment of the ubiquitin-like modifier UFM1 to lysine residues on target proteins, and which plays a key role in various processes, such as ribosome recycling, response to DNA damage, interferon response or reticulophagy (also called ER-phagy) 1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20. Catalyzes ufmylation of many protein, such as CD274/PD-L1, CDK5RAP3, CYB5R3, DDRGK1, EIF6, histone H4, MRE11, P4HB, PDCD1/PD-1, TRIP4, RPN1, RPS20/uS10, RPL10/uL16, RPL26/uL24, SYVN1/HRD1 and TP53/p53 21,22,23,24,25,26,27,28,29,30,31,32,33,34. As part of the UREL complex, plays a key role in ribosome recycling by catalyzing mono-ufmylation of RPL26/uL24 subunit of the 60S ribosome 35,36. Ufmylation of RPL26/uL24 occurs on free 60S ribosomes following ribosome dissociation: it weakens the junction between post-termination 60S subunits and SEC61 translocons, promoting release and recycling of the large ribosomal subunit from the endoplasmic reticulum membrane 37,38. Ufmylation of RPL26/uL24 and subsequent 60S ribosome recycling either take place after normal termination of translation or after ribosome stalling during cotranslational translocation at the endoplasmic reticulum 39,40,41,42. Involved in reticulophagy in response to endoplasmic reticulum stress by mediating ufmylation of proteins such as CYB5R3 and RPN1, thereby promoting lysosomal degradation of ufmylated proteins 43,44,45. Ufmylation in response to endoplasmic reticulum stress is essential for processes such as hematopoiesis, blood vessel morphogenesis or inflammatory response 46. Mediates ufmylation of DDRGK1 and CDK5RAP3; the role of these modifications is however unclear: as both DDRGK1 and CDK5RAP3 act as substrate adapters for ufmylation, it is uncertain whether ufmylation of these proteins is, a collateral effect or is required for ufmylation 47,48. Acts as a negative regulator of T-cell activation by mediating ufmylation and stabilization of PDCD1/PD-1 49. Also involved in the response to DNA damage: recruited to double-strand break sites following DNA damage and mediates monoufmylation of histone H4 and ufmylation of MRE11 50,51. Mediates ufmylation of TP53/p53, promoting its stability 52. Catalyzes ufmylation of TRIP4, thereby playing a role in nuclear receptor-mediated transcription 53. Required for hematopoietic stem cell function and hematopoiesis (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Transferase
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
DNA damage, DNA repair, Ubl conjugation pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
Enables UFM1 ligase activity and protein kinase binding activity. Involved in several processes, including cellular protein modification process; regulation of signal transduction; and reticulophagy. Acts upstream of or within several processes, including positive regulation of cell population proliferation; regulation of proteasomal ubiquitin-dependent protein catabolic process; and response to endoplasmic reticulum stress. Located in endoplasmic reticulum membrane; nucleus; and site of double-strand break. Part of protein-containing complex. [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.
SPOCTOPUS predicted membrane proteins 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)
Show all
GO:0001649[osteoblast differentiation] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005694[chromosome] GO:0005737[cytoplasm] GO:0005783[endoplasmic reticulum] GO:0005789[endoplasmic reticulum membrane] GO:0005829[cytosol] GO:0006281[DNA repair] GO:0006974[cellular response to DNA damage stimulus] GO:0008284[positive regulation of cell population proliferation] GO:0010468[regulation of gene expression] GO:0010508[positive regulation of autophagy] GO:0016020[membrane] GO:0016570[histone modification] GO:0016740[transferase activity] GO:0019901[protein kinase binding] GO:0030218[erythrocyte differentiation] GO:0031397[negative regulation of protein ubiquitination] GO:0032088[negative regulation of NF-kappaB transcription factor activity] GO:0032434[regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0032880[regulation of protein localization] GO:0032991[protein-containing complex] GO:0033146[regulation of intracellular estrogen receptor signaling pathway] GO:0034976[response to endoplasmic reticulum stress] GO:0035861[site of double-strand break] GO:0043005[neuron projection] GO:0043066[negative regulation of apoptotic process] GO:0043122[regulation of I-kappaB kinase/NF-kappaB signaling] GO:0050727[regulation of inflammatory response] GO:0060218[hematopoietic stem cell differentiation] GO:0060252[positive regulation of glial cell proliferation] GO:0061666[UFM1 ligase activity] GO:0061709[reticulophagy] GO:0071568[UFM1 transferase activity] GO:0071569[protein ufmylation] GO:1902065[response to L-glutamate] GO:1903895[negative regulation of IRE1-mediated unfolded protein response] GO:1990592[protein K69-linked ufmylation]
The Human Protein Atlas project is funded
