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.
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
1
Cytoband
p36.11
Chromosome location (bp)
26863149 - 26864456
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Adapter protein implicated in the regulation of a large spectrum of both general and specialized signaling pathways 1,2,3,4. Binds to a large number of partners, usually by recognition of a phosphoserine or phosphothreonine motif 5,6,7,8. Binding generally results in the modulation of the activity of the binding partner 9,10,11,12. Promotes cytosolic retention of GBP1 GTPase by binding to phosphorylated GBP1, thereby inhibiting the innate immune response 13. Also acts as a TP53/p53-regulated inhibitor of G2/M progression 14. When bound to KRT17, regulates protein synthesis and epithelial cell growth by stimulating Akt/mTOR pathway (By similarity). Acts to maintain desmosome cell junction adhesion in epithelial cells via interacting with and sequestering PKP3 to the cytoplasm, thereby restricting its translocation to existing desmosome structures and therefore maintaining desmosome protein homeostasis 15. May also regulate MDM2 autoubiquitination and degradation and thereby activate p53/TP53 16....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a cell cycle checkpoint protein. The encoded protein binds to translation and initiation factors and functions as a regulator of mitotic translation. In response to DNA damage this protein plays a role in preventing DNA errors during mitosis. [provided by RefSeq, Aug 2017]...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.
Predicted secreted proteins 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)
Show all
GO:0000079[regulation of cyclin-dependent protein serine/threonine kinase activity] GO:0001836[release of cytochrome c from mitochondria] GO:0003334[keratinocyte development] GO:0005515[protein binding] GO:0005576[extracellular region] GO:0005615[extracellular space] GO:0005634[nucleus] GO:0005737[cytoplasm] GO:0005829[cytosol] GO:0006469[negative regulation of protein kinase activity] GO:0007165[signal transduction] GO:0008426[protein kinase C inhibitor activity] GO:0008630[intrinsic apoptotic signaling pathway in response to DNA damage] GO:0010482[regulation of epidermal cell division] GO:0010839[negative regulation of keratinocyte proliferation] GO:0019901[protein kinase binding] GO:0030216[keratinocyte differentiation] GO:0030307[positive regulation of cell growth] GO:0031424[keratinization] GO:0042802[identical protein binding] GO:0043154[negative regulation of cysteine-type endopeptidase activity involved in apoptotic process] GO:0043588[skin development] GO:0043616[keratinocyte proliferation] GO:0045296[cadherin binding] GO:0045606[positive regulation of epidermal cell differentiation] GO:0046827[positive regulation of protein export from nucleus] GO:0051219[phosphoprotein binding] GO:0051726[regulation of cell cycle] GO:0061436[establishment of skin barrier] GO:0070062[extracellular exosome] GO:0072089[stem cell proliferation] GO:2000647[negative regulation of stem cell proliferation]
The Human Protein Atlas project is funded
