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).
Disease related genes Human disease 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
Chromosome location (bp)
2227388 - 2310213
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
May play a role in terminal differentiation of skeletal muscle cells but not in the determination of cells to the myogenic lineage. Functions as a repressor of TGF-beta signaling....show less
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes the nuclear protooncogene protein homolog of avian sarcoma viral (v-ski) oncogene. It functions as a repressor of TGF-beta signaling, and may play a role in neural tube development and muscle differentiation. [provided by RefSeq, Oct 2009]...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 intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Disease related genes Human disease related genes Congenital malformations Other congenital malformations Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0000978[RNA polymerase II cis-regulatory region sequence-specific DNA binding] GO:0000981[DNA-binding transcription factor activity, RNA polymerase II-specific] GO:0001227[DNA-binding transcription repressor activity, RNA polymerase II-specific] GO:0001843[neural tube closure] GO:0002089[lens morphogenesis in camera-type eye] GO:0005515[protein binding] GO:0005634[nucleus] GO:0005654[nucleoplasm] GO:0005667[transcription regulator complex] GO:0005737[cytoplasm] GO:0005813[centrosome] GO:0006351[DNA-templated transcription] GO:0007179[transforming growth factor beta receptor signaling pathway] GO:0008270[zinc ion binding] GO:0008285[negative regulation of cell population proliferation] GO:0009948[anterior/posterior axis specification] GO:0010626[negative regulation of Schwann cell proliferation] GO:0014902[myotube differentiation] GO:0016604[nuclear body] GO:0016605[PML body] GO:0017053[transcription repressor complex] GO:0019901[protein kinase binding] GO:0019904[protein domain specific binding] GO:0021772[olfactory bulb development] GO:0022011[myelination in peripheral nervous system] GO:0030177[positive regulation of Wnt signaling pathway] GO:0030326[embryonic limb morphogenesis] GO:0030512[negative regulation of transforming growth factor beta receptor signaling pathway] GO:0030514[negative regulation of BMP signaling pathway] GO:0031625[ubiquitin protein ligase binding] GO:0032926[negative regulation of activin receptor signaling pathway] GO:0032991[protein-containing complex] GO:0035019[somatic stem cell population maintenance] GO:0042802[identical protein binding] GO:0043010[camera-type eye development] GO:0043388[positive regulation of DNA binding] GO:0043585[nose morphogenesis] GO:0045668[negative regulation of osteoblast differentiation] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046332[SMAD binding] GO:0046811[histone deacetylase inhibitor activity] GO:0048147[negative regulation of fibroblast proliferation] GO:0048593[camera-type eye morphogenesis] GO:0048741[skeletal muscle fiber development] GO:0048870[cell motility] GO:0060021[roof of mouth development] GO:0060038[cardiac muscle cell proliferation] GO:0060041[retina development in camera-type eye] GO:0060325[face morphogenesis] GO:0060349[bone morphogenesis] GO:0060395[SMAD protein signal transduction] GO:0110165[cellular anatomical entity] GO:0140297[DNA-binding transcription factor binding]
The Human Protein Atlas project is funded
