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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).
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
5
Cytoband
p13.1
Chromosome location (bp)
39371675 - 39462300
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 that functions as a clathrin-associated sorting protein (CLASP) required for clathrin-mediated endocytosis of selected cargo proteins. Can bind and assemble clathrin, and binds simultaneously to phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and cargos containing non-phosphorylated NPXY internalization motifs, such as the LDL receptor, to recruit them to clathrin-coated pits. Can function in clathrin-mediated endocytosis independently of the AP-2 complex. Involved in endocytosis of integrin beta-1; this function seems to redundant with the AP-2 complex and seems to require DAB2 binding to endocytosis accessory EH domain-containing proteins such as EPS15, EPS15L1 and ITSN1. Involved in endocytosis of cystic fibrosis transmembrane conductance regulator/CFTR. Involved in endocytosis of megalin/LRP2 lipoprotein receptor during embryonal development. Required for recycling of the TGF-beta receptor. Involved in CFTR trafficking to the late endosome. Involved in several receptor-mediated signaling pathways. Involved in TGF-beta receptor signaling and facilitates phosphorylation of the signal transducer SMAD2. Mediates TFG-beta-stimulated JNK activation. May inhibit the canoniocal Wnt/beta-catenin signaling pathway by stabilizing the beta-catenin destruction complex through a competing association with axin preventing its dephosphorylation through protein phosphatase 1 (PP1). Sequesters LRP6 towards clathrin-mediated endocytosis, leading to inhibition of Wnt/beta-catenin signaling. May activate non-canonical Wnt signaling. In cell surface growth factor/Ras signaling pathways proposed to inhibit ERK activation by interrupting the binding of GRB2 to SOS1 and to inhibit SRC by preventing its activating phosphorylation at 'Tyr-419'. Proposed to be involved in modulation of androgen receptor (AR) signaling mediated by SRC activation; seems to compete with AR for interaction with SRC. Plays a role in the CSF-1 signal transduction pathway. Plays a role in cellular differentiation. Involved in cell positioning and formation of visceral endoderm (VE) during embryogenesis and proposed to be required in the VE to respond to Nodal signaling coming from the epiblast. Required for the epithelial to mesenchymal transition, a process necessary for proper embryonic development. May be involved in myeloid cell differentiation and can induce macrophage adhesion and spreading. May act as a tumor suppressor....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Developmental protein
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Apoptosis, Differentiation, Endocytosis, Protein transport, Transport, Wnt signaling pathway
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a mitogen-responsive phosphoprotein. It is expressed in normal ovarian epithelial cells, but is down-regulated or absent from ovarian carcinoma cell lines, suggesting its role as a tumor suppressor. This protein binds to the SH3 domains of GRB2, an adaptor protein that couples tyrosine kinase receptors to SOS (a guanine nucleotide exchange factor for Ras), via its C-terminal proline-rich sequences, and may thus modulate growth factor/Ras pathways by competing with SOS for binding to GRB2. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]...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.
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins 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:0001650[fibrillar center] GO:0001934[positive regulation of protein phosphorylation] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005765[lysosomal membrane] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005905[clathrin-coated pit] GO:0005925[focal adhesion] GO:0006897[endocytosis] GO:0006898[receptor-mediated endocytosis] GO:0006915[apoptotic process] GO:0008022[protein C-terminus binding] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0010977[negative regulation of neuron projection development] GO:0015031[protein transport] GO:0016020[membrane] GO:0016055[Wnt signaling pathway] GO:0030136[clathrin-coated vesicle] GO:0030154[cell differentiation] GO:0030308[negative regulation of cell growth] GO:0030335[positive regulation of cell migration] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030665[clathrin-coated vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0032091[negative regulation of protein binding] GO:0032349[positive regulation of aldosterone biosynthetic process] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0035026[leading edge cell differentiation] GO:0035615[clathrin adaptor activity] GO:0038024[cargo receptor activity] GO:0043066[negative regulation of apoptotic process] GO:0043231[intracellular membrane-bounded organelle] GO:0045807[positive regulation of endocytosis] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046332[SMAD binding] GO:0048268[clathrin coat assembly] GO:0048471[perinuclear region of cytoplasm] GO:0048545[response to steroid hormone] GO:0050680[negative regulation of epithelial cell proliferation] GO:0050750[low-density lipoprotein particle receptor binding] GO:0060391[positive regulation of SMAD protein signal transduction] GO:0060766[negative regulation of androgen receptor signaling pathway] GO:0070373[negative regulation of ERK1 and ERK2 cascade] GO:0071364[cellular response to epidermal growth factor stimulus] GO:0071560[cellular response to transforming growth factor beta stimulus] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:1900026[positive regulation of substrate adhesion-dependent cell spreading] GO:1902074[response to salt] GO:1903077[negative regulation of protein localization to plasma membrane] GO:2000096[positive regulation of Wnt signaling pathway, planar cell polarity pathway] GO:2000298[regulation of Rho-dependent protein serine/threonine kinase activity] GO:2000370[positive regulation of clathrin-dependent endocytosis] GO:2000643[positive regulation of early endosome to late endosome transport] GO:2000860[positive regulation of aldosterone secretion]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
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GO:0000122[negative regulation of transcription by RNA polymerase II] GO:0001650[fibrillar center] GO:0001934[positive regulation of protein phosphorylation] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005765[lysosomal membrane] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005905[clathrin-coated pit] GO:0005925[focal adhesion] GO:0006897[endocytosis] GO:0006898[receptor-mediated endocytosis] GO:0006915[apoptotic process] GO:0008022[protein C-terminus binding] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0015031[protein transport] GO:0016020[membrane] GO:0016055[Wnt signaling pathway] GO:0030136[clathrin-coated vesicle] GO:0030154[cell differentiation] GO:0030335[positive regulation of cell migration] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030665[clathrin-coated vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0032091[negative regulation of protein binding] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0035026[leading edge cell differentiation] GO:0035615[clathrin adaptor activity] GO:0038024[cargo receptor activity] GO:0043066[negative regulation of apoptotic process] GO:0043231[intracellular membrane-bounded organelle] GO:0045807[positive regulation of endocytosis] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046332[SMAD binding] GO:0060391[positive regulation of SMAD protein signal transduction] GO:0060766[negative regulation of androgen receptor signaling pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:1903077[negative regulation of protein localization to plasma membrane] GO:2000096[positive regulation of Wnt signaling pathway, planar cell polarity pathway] GO:2000370[positive regulation of clathrin-dependent endocytosis] GO:2000643[positive regulation of early endosome to late endosome transport]
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins 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:0001650[fibrillar center] GO:0001934[positive regulation of protein phosphorylation] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005765[lysosomal membrane] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005905[clathrin-coated pit] GO:0005925[focal adhesion] GO:0006897[endocytosis] GO:0006898[receptor-mediated endocytosis] GO:0006915[apoptotic process] GO:0008022[protein C-terminus binding] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0015031[protein transport] GO:0016020[membrane] GO:0016055[Wnt signaling pathway] GO:0030136[clathrin-coated vesicle] GO:0030154[cell differentiation] GO:0030335[positive regulation of cell migration] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030665[clathrin-coated vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0032091[negative regulation of protein binding] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0035026[leading edge cell differentiation] GO:0035615[clathrin adaptor activity] GO:0038024[cargo receptor activity] GO:0043066[negative regulation of apoptotic process] GO:0043231[intracellular membrane-bounded organelle] GO:0045807[positive regulation of endocytosis] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046332[SMAD binding] GO:0060391[positive regulation of SMAD protein signal transduction] GO:0060766[negative regulation of androgen receptor signaling pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:1903077[negative regulation of protein localization to plasma membrane] GO:2000096[positive regulation of Wnt signaling pathway, planar cell polarity pathway] GO:2000370[positive regulation of clathrin-dependent endocytosis] GO:2000643[positive regulation of early endosome to late endosome transport]
MEMSAT3 predicted membrane proteins Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins 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:0001650[fibrillar center] GO:0001934[positive regulation of protein phosphorylation] GO:0005515[protein binding] GO:0005737[cytoplasm] GO:0005765[lysosomal membrane] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005905[clathrin-coated pit] GO:0005925[focal adhesion] GO:0006897[endocytosis] GO:0006898[receptor-mediated endocytosis] GO:0006915[apoptotic process] GO:0008022[protein C-terminus binding] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0010862[positive regulation of pathway-restricted SMAD protein phosphorylation] GO:0015031[protein transport] GO:0016020[membrane] GO:0016055[Wnt signaling pathway] GO:0030136[clathrin-coated vesicle] GO:0030154[cell differentiation] GO:0030335[positive regulation of cell migration] GO:0030511[positive regulation of transforming growth factor beta receptor signaling pathway] GO:0030665[clathrin-coated vesicle membrane] GO:0031410[cytoplasmic vesicle] GO:0032091[negative regulation of protein binding] GO:0032436[positive regulation of proteasomal ubiquitin-dependent protein catabolic process] GO:0035026[leading edge cell differentiation] GO:0035615[clathrin adaptor activity] GO:0038024[cargo receptor activity] GO:0043066[negative regulation of apoptotic process] GO:0043231[intracellular membrane-bounded organelle] GO:0045807[positive regulation of endocytosis] GO:0045944[positive regulation of transcription by RNA polymerase II] GO:0046332[SMAD binding] GO:0060391[positive regulation of SMAD protein signal transduction] GO:0060766[negative regulation of androgen receptor signaling pathway] GO:0090090[negative regulation of canonical Wnt signaling pathway] GO:1903077[negative regulation of protein localization to plasma membrane] GO:2000096[positive regulation of Wnt signaling pathway, planar cell polarity pathway] GO:2000370[positive regulation of clathrin-dependent endocytosis] GO:2000643[positive regulation of early endosome to late endosome transport]
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