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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).
Disease related genes Plasma proteins RAS pathway related 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
21
Cytoband
q22.11
Chromosome location (bp)
31118416 - 31559977
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
Guanyl-nucleotide exchange factor that activates RHO-like proteins and connects extracellular signals to cytoskeletal activities. Activates RAC1, CDC42, and to a lesser extent RHOA and their downstream signaling to regulate processes like cell adhesion and cell migration....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
Guanine-nucleotide releasing factor
Ligand (UniProt)i
Keywords assigned by UniProt to proteins because they bind, are associated with, or whose activity is dependent of some molecule.
Lipid-binding
Gene summary (Entrez)i
Useful information about the gene from Entrez
This gene encodes a RAC1-specific guanine nucleotide exchange factor (GEF). GEFs mediate the exchange of guanosine diphosphate (GDP) for guanosine triphosphate (GTP). The binding of GTP induces a conformational change in RAC1 that allows downstream effectors to bind and transduce a signal. This gene thus regulates RAC1 signaling pathways that affect cell shape, migration, adhesion, growth, survival, and polarity, as well as influencing actin cytoskeletal formation, endocytosis, and membrane trafficking. This gene thus plays an important role in cell invasion, metastasis, and carcinogenesis. In addition to RAC1, the encoded protein activates additional Rho-like GTPases such as CDC42, RAC2, RAC3 and RHOA. This gene encodes multiple protein isoforms that experience a diverse array of intramolecular, protein-protein, and phosphorylation interactions as well as phosphoinositide binding. Both the longer and shorter isoforms have C-terminal Dbl homology (DH) and pleckstrin homology (PH) domains while only the longer isoforms of this gene have the N-terminal myristoylation site and the downstream N-terminal PH domain, ras-binding domain (RBD), and PSD-95/DlgA/ZO-1 (PDZ) domain. [provided by RefSeq, Jul 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 intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Disease related genes 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:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0007160[cell-matrix adhesion] GO:0007165[signal transduction] GO:0007264[small GTPase mediated signal transduction] GO:0008284[positive regulation of cell population proliferation] GO:0008289[lipid binding] GO:0010717[regulation of epithelial to mesenchymal transition] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0016020[membrane] GO:0016477[cell migration] GO:0016601[Rac protein signal transduction] GO:0019900[kinase binding] GO:0030335[positive regulation of cell migration] GO:0030695[GTPase regulator activity] GO:0031234[extrinsic component of cytoplasmic side of plasma membrane] GO:0032092[positive regulation of protein binding] GO:0035556[intracellular signal transduction] GO:0044291[cell-cell contact zone] GO:0045202[synapse] GO:0048013[ephrin receptor signaling pathway] GO:0050772[positive regulation of axonogenesis] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0065003[protein-containing complex assembly] GO:0070161[anchoring junction] GO:0090630[activation of GTPase activity] GO:1904338[regulation of dopaminergic neuron differentiation] GO:2000050[regulation of non-canonical Wnt signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0007160[cell-matrix adhesion] GO:0007165[signal transduction] GO:0007264[small GTPase mediated signal transduction] GO:0008284[positive regulation of cell population proliferation] GO:0008289[lipid binding] GO:0010717[regulation of epithelial to mesenchymal transition] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0016020[membrane] GO:0016477[cell migration] GO:0016601[Rac protein signal transduction] GO:0019900[kinase binding] GO:0030335[positive regulation of cell migration] GO:0030695[GTPase regulator activity] GO:0031234[extrinsic component of cytoplasmic side of plasma membrane] GO:0032092[positive regulation of protein binding] GO:0035556[intracellular signal transduction] GO:0044291[cell-cell contact zone] GO:0045202[synapse] GO:0048013[ephrin receptor signaling pathway] GO:0050772[positive regulation of axonogenesis] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0065003[protein-containing complex assembly] GO:0070161[anchoring junction] GO:0090630[activation of GTPase activity] GO:1904338[regulation of dopaminergic neuron differentiation] GO:2000050[regulation of non-canonical Wnt signaling pathway]
Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Plasma proteins RAS pathway related proteins Disease related genes Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005085[guanyl-nucleotide exchange factor activity] GO:0005515[protein binding] GO:0005829[cytosol] GO:0005886[plasma membrane] GO:0005911[cell-cell junction] GO:0007160[cell-matrix adhesion] GO:0007165[signal transduction] GO:0007264[small GTPase mediated signal transduction] GO:0008284[positive regulation of cell population proliferation] GO:0008289[lipid binding] GO:0010717[regulation of epithelial to mesenchymal transition] GO:0010718[positive regulation of epithelial to mesenchymal transition] GO:0016020[membrane] GO:0016477[cell migration] GO:0016601[Rac protein signal transduction] GO:0019900[kinase binding] GO:0030335[positive regulation of cell migration] GO:0030695[GTPase regulator activity] GO:0031234[extrinsic component of cytoplasmic side of plasma membrane] GO:0032092[positive regulation of protein binding] GO:0035556[intracellular signal transduction] GO:0044291[cell-cell contact zone] GO:0045202[synapse] GO:0048013[ephrin receptor signaling pathway] GO:0050772[positive regulation of axonogenesis] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0060071[Wnt signaling pathway, planar cell polarity pathway] GO:0065003[protein-containing complex assembly] GO:0070161[anchoring junction] GO:0090630[activation of GTPase activity] GO:1904338[regulation of dopaminergic neuron differentiation] GO:2000050[regulation of non-canonical Wnt signaling pathway]
The Human Protein Atlas project is funded
