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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
17
Cytoband
p12
Chromosome location (bp)
12789498 - 12991643
Number of transcriptsi
Number of protein-coding transcripts from the gene as defined by Ensembl.
Useful information about the protein provided by UniProt.
GTPase-activating protein (GAP) that stimulates the GTPase activity of Rho-type GTPases. Thereby, controls Rho-type GTPases cycling between their active GTP-bound and inactive GDP-bound states. Acts as a GAP at least for CDC42 and RAC1 1. In neurons, is involved in dendritic spine formation and synaptic plasticity in a specific RAC1-GAP activity (By similarity). Limits the initiation of exploratory dendritic filopodia. Recruited to actin-patches that seed filopodia, binds specifically to plasma membrane sections that are deformed inward by acto-myosin mediated contractile forces. Acts through GAP activity on RAC1 to reduce actin polymerization necessary for filopodia formation (By similarity). In association with SHANK3, promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation (By similarity)....show less
Molecular function (UniProt)i
Keywords assigned by UniProt to proteins due to their particular molecular function.
GTPase activation
Biological process (UniProt)i
Keywords assigned by UniProt to proteins because they are involved in a particular biological process.
Exocytosis
Gene summary (Entrez)i
Useful information about the gene from Entrez
Enables phospholipid binding activity. Predicted to be involved in several processes, including modification of dendritic spine; negative regulation of Rac protein signal transduction; and regulation of plasma membrane bounded cell projection organization. Located in leading edge membrane. [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.
Q17R89 [Direct mapping] Rho GTPase-activating protein 44
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC Mapped to neXtProt neXtProt - Evidence at protein level Protein evidence (Ezkurdia et al 2014)
Q17R89 [Direct mapping] Rho GTPase-activating protein 44
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Predicted intracellular proteins Intracellular proteins predicted by MDM and MDSEC 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:0005096[GTPase activator activity] GO:0005515[protein binding] GO:0005543[phospholipid binding] GO:0005737[cytoplasm] GO:0005768[endosome] GO:0005829[cytosol] GO:0006887[exocytosis] GO:0007165[signal transduction] GO:0014069[postsynaptic density] GO:0030425[dendrite] GO:0031256[leading edge membrane] GO:0031267[small GTPase binding] GO:0032956[regulation of actin cytoskeleton organization] GO:0035020[regulation of Rac protein signal transduction] GO:0035021[negative regulation of Rac protein signal transduction] GO:0042995[cell projection] GO:0043087[regulation of GTPase activity] GO:0043197[dendritic spine] GO:0045202[synapse] GO:0048786[presynaptic active zone] GO:0050804[modulation of chemical synaptic transmission] GO:0051056[regulation of small GTPase mediated signal transduction] GO:0051490[negative regulation of filopodium assembly] GO:0055037[recycling endosome] GO:0061001[regulation of dendritic spine morphogenesis] GO:0098793[presynapse] GO:0098886[modification of dendritic spine] GO:0098887[neurotransmitter receptor transport, endosome to postsynaptic membrane] GO:0098978[glutamatergic synapse] GO:0099010[modification of postsynaptic structure] GO:0099152[regulation of neurotransmitter receptor transport, endosome to postsynaptic membrane] GO:0110165[cellular anatomical entity]
The Human Protein Atlas project is funded
