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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.
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
q15
Chromosome location (bp)
87674860 - 87702233
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Molecular adapter that acts as a bridge between a variety of multiprotein complexes, and which is involved in embryonic development, immunity, myogenesis and brain development 1. Plays a key role in nuclear protein degradation by promoting import of proteasomes into the nucleus: directly binds to fully assembled 20S proteasomes at one end and to nuclear import receptor IPO9 at the other end, bridging them together and mediating the import of pre-assembled proteasome complexes through the nuclear pore 2. Involved in innate immunity by regulating the production of interleukin-6 (IL6) downstream of Toll-like receptor (TLR): acts by bridging the NF-kappa-B inhibitor NFKBIZ and the SWI/SNF complex, leading to promote induction of IL6 (By similarity). Also involved in adaptive immunity by promoting B-cell activation (By similarity). Involved in brain development: required for the survival and proliferation of cerebral cortical progenitor cells (By similarity). Involved in myogenesis: required for skeletal muscle formation and skeletal development, possibly by regulating expression of muscle differentiation factors (By similarity). Also plays a role in facilitating interdigital tissue regression during limb development (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein, Repressor
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Adaptive immunity, Immunity, Innate immunity, Protein transport, Transcription, Transcription regulation, Transport
Gene summary (Entrez)i
Useful information about the gene from Entrez
Enables enzyme binding activity and identical protein binding activity. Predicted to be involved in positive regulation of innate immune response and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within positive regulation of interleukin-6 production and response to lipopolysaccharide. Located in nucleoplasm. [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 secreted proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000785[chromatin] GO:0002250[adaptive immune response] GO:0002376[immune system process] GO:0002821[positive regulation of adaptive immune response] GO:0003712[transcription coregulator activity] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005737[cytoplasm] GO:0006351[DNA-templated transcription] GO:0006606[protein import into nucleus] GO:0008284[positive regulation of cell population proliferation] GO:0009792[embryo development ending in birth or egg hatching] GO:0010629[negative regulation of gene expression] GO:0010950[positive regulation of endopeptidase activity] GO:0015031[protein transport] GO:0016020[membrane] GO:0017053[transcription repressor complex] GO:0019899[enzyme binding] GO:0021987[cerebral cortex development] GO:0030674[protein-macromolecule adaptor activity] GO:0031144[proteasome localization] GO:0032496[response to lipopolysaccharide] GO:0032755[positive regulation of interleukin-6 production] GO:0042742[defense response to bacterium] GO:0042802[identical protein binding] GO:0045087[innate immune response] GO:0045089[positive regulation of innate immune response] GO:0045892[negative regulation of DNA-templated transcription] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0050871[positive regulation of B cell activation] GO:0051147[regulation of muscle cell differentiation] GO:0071630[nuclear protein quality control by the ubiquitin-proteasome system]
The Human Protein Atlas project is funded
