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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).
Cancer-related genes Plasma proteins
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
11
Cytoband
p15.1
Chromosome location (bp)
18468336 - 18526951
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Binds to ubiquitinated cargo proteins and is required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies (MVBs). Mediates the association between the ESCRT-0 and ESCRT-I complex. Required for completion of cytokinesis; the function requires CEP55. May be involved in cell growth and differentiation. Acts as a negative growth regulator. Involved in the budding of many viruses through an interaction with viral proteins that contain a late-budding motif P-[ST]-A-P. This interaction is essential for viral particle budding of numerous retroviruses. Required for the exosomal release of SDCBP, CD63 and syndecan 1. It may also play a role in the extracellular release of microvesicles that differ from the exosomes 2....show less
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Cell cycle, Cell division, Growth regulation, Host-virus interaction, Protein transport, Transport
Gene summary (Entrez)i
Useful information about the gene from Entrez
The protein encoded by this gene belongs to a group of apparently inactive homologs of ubiquitin-conjugating enzymes. The gene product contains a coiled-coil domain that interacts with stathmin, a cytosolic phosphoprotein implicated in tumorigenesis. The protein may play a role in cell growth and differentiation and act as a negative growth regulator. In vitro steady-state expression of this tumor susceptibility gene appears to be important for maintenance of genomic stability and cell cycle regulation. Mutations and alternative splicing in this gene occur in high frequency in breast cancer and suggest that defects occur during breast cancer tumorigenesis and/or progression. [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 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.
Q99816 [Direct mapping] Tumor susceptibility gene 101 protein
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Cancer-related genes Candidate cancer biomarkers 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:0000813[ESCRT I complex] GO:0001558[regulation of cell growth] GO:0003677[DNA binding] GO:0003714[transcription corepressor activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005730[nucleolus] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005769[early endosome] GO:0005770[late endosome] GO:0005771[multivesicular body] GO:0005815[microtubule organizing center] GO:0005829[cytosol] GO:0005856[cytoskeleton] GO:0005886[plasma membrane] GO:0006513[protein monoubiquitination] GO:0006858[extracellular transport] GO:0007049[cell cycle] GO:0007175[negative regulation of epidermal growth factor-activated receptor activity] GO:0008285[negative regulation of cell population proliferation] GO:0008333[endosome to lysosome transport] GO:0010008[endosome membrane] GO:0015031[protein transport] GO:0016020[membrane] GO:0016236[macroautophagy] GO:0019076[viral release from host cell] GO:0030154[cell differentiation] GO:0030216[keratinocyte differentiation] GO:0030374[nuclear receptor coactivator activity] GO:0031625[ubiquitin protein ligase binding] GO:0031901[early endosome membrane] GO:0031902[late endosome membrane] GO:0036211[protein modification process] GO:0036258[multivesicular body assembly] GO:0039702[viral budding via host ESCRT complex] GO:0042059[negative regulation of epidermal growth factor receptor signaling pathway] GO:0042803[protein homodimerization activity] GO:0043130[ubiquitin binding] GO:0043162[ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway] GO:0043328[protein transport to vacuole involved in ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway] GO:0043405[regulation of MAP kinase activity] GO:0044877[protein-containing complex binding] GO:0045893[positive regulation of DNA-templated transcription] GO:0046755[viral budding] GO:0046790[virion binding] GO:0048306[calcium-dependent protein binding] GO:0051301[cell division] GO:0051726[regulation of cell cycle] GO:0061024[membrane organization] GO:0070062[extracellular exosome] GO:0090148[membrane fission] GO:0090543[Flemming body] GO:0097352[autophagosome maturation] GO:1903543[positive regulation of exosomal secretion] GO:1903551[regulation of extracellular exosome assembly] GO:1903774[positive regulation of viral budding via host ESCRT complex] GO:1990182[exosomal secretion] GO:2000397[positive regulation of ubiquitin-dependent endocytosis]
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