Aliases for ARHGAP44 Gene
Aliases for ARHGAP44 Gene
External Ids for ARHGAP44 Gene
- HGNC: 29096
- Entrez Gene: 9912
- Ensembl: ENSG00000006740
- UniProtKB: Q17R89
Previous GeneCards Identifiers for ARHGAP44 Gene
- GC17P012692
- GC17P012588
Summaries for ARHGAP44 Gene
GeneCards Summary for ARHGAP44 Gene
ARHGAP44 (Rho GTPase Activating Protein 44) is a Protein Coding gene. Among its related pathways are Signaling by GPCR and p75 NTR receptor-mediated signalling. GO annotations related to this gene include GTPase activator activity and phospholipid binding. An important paralog of this gene is ARHGAP17.
UniProtKB/Swiss-Prot for ARHGAP44 Gene
-
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. May act as a GAP for CDC42 and RAC1. Endosomal recycling protein which, in association with SHANK3, is involved in synaptic plasticity. Promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation.
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ARHGAP44 Gene
Genomics for ARHGAP44 Gene
Regulatory Elements for ARHGAP44 Gene
Enhancers for ARHGAP44 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH17G012741 | 1.2 | Ensembl ENCODE dbSUPER | 10.4 | -47.0 | -47037 | 1.0 | CTCF ZNF654 NFIB NFIA CBFB TRIM22 JUNB REST RAD21 NFIC | LOC101928418 ARHGAP44 GC17P012738 PIR47070 |
| GH17G013002 | 0.7 | ENCODE | 10.4 | +213.6 | 213592 | 0.7 | CTCF ZNF654 HLF TRIM22 ZNF76 RAD21 GATAD1 IKZF1 SMC3 ZNF143 | ELAC2 ARHGAP44 PIR40121 |
| GH17G012721 | 0.5 | dbSUPER | 10.4 | -67.1 | -67141 | 2.5 | CTCF ZBTB11 CHD4 | MYOCD ARHGAP44 GC17P012717 GC17P012738 |
| GH17G012743 | 0.5 | ENCODE dbSUPER | 10.4 | -46.3 | -46254 | 0.2 | LOC101928418 ARHGAP44 GC17P012738 PIR47070 | |
| GH17G012893 | 0.3 | FANTOM5 | 10.5 | +104.0 | 103952 | 0.1 | ARHGAP44 MIR1269B GC17M012817 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around ARHGAP44 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for ARHGAP44 Gene
- Chromosome:
- 17
- Start:
- 12,789,512 bp from pter
- End:
- 12,991,643 bp from pter
- Size:
- 202,132 bases
- Orientation:
- Plus strand
Genomic View for ARHGAP44 Gene
Genes around ARHGAP44 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17p12 by Ensembl
- 17p12 by Entrez Gene
- 17p12 by HGNC
ARHGAP44 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for ARHGAP44 Gene
Proteins for ARHGAP44 Gene
-
Protein details for ARHGAP44 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q17R89-RHG44_HUMAN
- Recommended name:
- Rho GTPase-activating protein 44
- Protein Accession:
- Q17R89
- A6NCP5
- A8MQB2
- O75160
- Q7Z5Z7
- Q9Y4Q4
Protein attributes for ARHGAP44 Gene
- Size:
- 818 amino acids
- Molecular mass:
- 89247 Da
- Quaternary structure:
-
- Interacts with BST2 (via cytoplasmic domain). Interacts (probably via PDZ-binding motif) with SHANK3 (via PDZ domain); the interaction takes place in dendritic spines and promotes GRIA1 exocytosis.
- SequenceCaution:
-
- Sequence=AAP73805.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAP73805.1; Type=Frameshift; Positions=385; Evidence={ECO:0000305}; Sequence=BAA31647.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};
Protein Expression for ARHGAP44 Gene
Post-translational modifications for ARHGAP44 Gene
Other Protein References for ARHGAP44 Gene
Antibody Products
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Abcam antibodies for ARHGAP44
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- antibodies-online Antibodies for ARHGAP44: See all 23
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-
Santa Cruz Biotechnology (SCBT) Antibodies for ARHGAP44
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Assay Products
No data available for DME Specific Peptides for ARHGAP44 Gene
Domains & Families for ARHGAP44 Gene
Gene Families for ARHGAP44 Gene
Protein Domains for ARHGAP44 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for ARHGAP44 Gene
Graphical View of Domain Structure for InterPro Entry
Q17R89UniProtKB/Swiss-Prot:
RHG44_HUMAN :- Rho-GAP domain is required to promote GRIA1 exocytosis from recycling endosomes. Rho-GAP and BAR domains are necessary for the control of long-term potentiation in hippocampal neurons (By similarity).
- Domain:
-
- Rho-GAP domain is required to promote GRIA1 exocytosis from recycling endosomes. Rho-GAP and BAR domains are necessary for the control of long-term potentiation in hippocampal neurons (By similarity).
Function for ARHGAP44 Gene
Molecular function for ARHGAP44 Gene
- UniProtKB/Swiss-Prot Function:
- 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. May act as a GAP for CDC42 and RAC1. Endosomal recycling protein which, in association with SHANK3, is involved in synaptic plasticity. Promotes GRIA1 exocytosis from recycling endosomes and spine morphological changes associated to long-term potentiation.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005096 | GTPase activator activity | TAS | -- |
| GO:0005515 | protein binding | IPI | 19273615 |
| GO:0005543 | phospholipid binding | IDA | 22750946 |
| GO:0048365 | Rac GTPase binding | IEA | -- |
Phenotypes for ARHGAP44 Gene
- GenomeRNAi human phenotypes for ARHGAP44:
Animal Model Products
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- Search ViGene Biosciences for ARHGAP44
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miRNA for ARHGAP44 Gene
- miRTarBase miRNAs that target ARHGAP44
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-
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
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Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ARHGAP44 Gene
Localization for ARHGAP44 Gene
Subcellular locations from UniProtKB/Swiss-Prot for ARHGAP44 Gene
- Cell projection, dendritic spine. Recycling endosome. Cell junction, synapse. Note=In CA1 hippocampal synapses, detected at both presynaptic and postsynaptic sites. {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| cytosol | 5 |
| endosome | 3 |
| mitochondrion | 2 |
| nucleus | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005768 | endosome | IEA | -- |
| GO:0005829 | cytosol | TAS | -- |
| GO:0030054 | cell junction | IEA | -- |
| GO:0031256 | leading edge membrane | IDA | 22750946 |
Pathways & Interactions for ARHGAP44 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | p75 NTR receptor-mediated signalling |
.36
|
|
| 2 | Signaling by GPCR | ||
| 3 | Signaling by Rho GTPases | ||
Pathways by source for ARHGAP44 Gene
1 GeneTex pathway for ARHGAP44 Gene
3 Reactome pathways for ARHGAP44 Gene
Interacting Proteins for ARHGAP44 Gene
Selected Interacting proteins:
Q17R89-RHG44_HUMAN
ENSP00000368994
for ARHGAP44 Gene via
IID
UniProtKB
STRING
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006887 | exocytosis | IEA | -- |
| GO:0007165 | signal transduction | IEA | -- |
| GO:0032956 | regulation of actin cytoskeleton organization | IEA | -- |
| GO:0035021 | negative regulation of Rac protein signal transduction | IEA | -- |
| GO:0043087 | regulation of GTPase activity | IEA | -- |
No data available for SIGNOR curated interactions for ARHGAP44 Gene
Transcripts for ARHGAP44 Gene
mRNA/cDNA for ARHGAP44 Gene
- (6) REFSEQ mRNAs :
- (16) Additional mRNA sequences :
- (79) Selected AceView cDNA sequences:
- (12) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for ARHGAP44 Gene
CRISPR Products
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OriGene CRISPR knockouts for ARHGAP44
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miRNA Products
- Search ViGene Biosciences for ARHGAP44
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for ARHGAP44
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ViGene Biosciences ready-to-package AAV shRNAs for ARHGAP44 gene
Clone Products
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- VectorBuilder custom plasmid, inducible vectors for ARHGAP44
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for ARHGAP44
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for ARHGAP44 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
- Neural Crest (Gastrulation Derivatives)
- Lung (Respiratory System)
This gene is overexpressed in Frontal cortex (42.3), Fetal Brain (7.1), and Retina (6.3).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARHGAP44 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of ARHGAP44 Gene:
ARHGAP44SOURCE GeneReport for Unigene cluster for ARHGAP44 Gene:
Hs.499758mRNA Expression by UniProt/SwissProt for ARHGAP44 Gene:
Q17R89-RHG44_HUMAN
Tissue specificity:
Highly expressed in brain. Expressed at weak level in other tissues.
Evidence on tissue expression from TISSUES for ARHGAP44 Gene
- Nervous system(4.7)
Primer Products
-
OriGene qPCR primer pairs for ARHGAP44
No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARHGAP44 Gene
Orthologs for ARHGAP44 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | ARHGAP44 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | ARHGAP44 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Arhgap44 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | ARHGAP44 35 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Arhgap44 34 16 35 |
|
||
| cow (Bos Taurus) |
Mammalia | ARHGAP44 34 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | ARHGAP44 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | ARHGAP44 34 35 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | ARHGAP44 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100497272 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | arhgap44 35 |
|
OneToMany | |
| si:ch211-114m9.1 34 |
|
||||
| ARHGAP44 (1 of 2) 35 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | RhoGAP92B 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | Y34B4A.8 35 |
|
OneToMany |
- Species where no ortholog for ARHGAP44 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for ARHGAP44 Gene
Paralogs for ARHGAP44 Gene
(12) SIMAP similar genes for ARHGAP44 Gene using alignment to 7 proteins:
Variants for ARHGAP44 Gene
| SNP ID | Clin | Chr 17 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000007281 | -- | 12,889,556(+) | GGATC(C/T)GGTTT | intron-variant | |
| rs1000012295 | -- | 12,809,001(+) | CAGAT(A/G)CACTA | intron-variant | |
| rs1000014898 | -- | 12,926,819(+) | TTCAT(A/G)TTGGT | intron-variant | |
| rs1000042668 | -- | 12,849,372(+) | GACCC(A/G)TACCA | intron-variant | |
| rs1000043624 | -- | 12,809,377(+) | TTTAA(C/T)TGACT | intron-variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv888e212 | CNV | loss | 25503493 |
| esv2715664 | CNV | deletion | 23290073 |
| esv2715665 | CNV | deletion | 23290073 |
| esv2715666 | CNV | deletion | 23290073 |
| esv3306471 | CNV | mobile element insertion | 20981092 |
| esv3393972 | CNV | insertion | 20981092 |
| esv34095 | CNV | loss | 18971310 |
| esv3422217 | CNV | insertion | 20981092 |
| esv3582531 | CNV | loss | 25503493 |
| esv3639978 | CNV | loss | 21293372 |
| esv3639982 | CNV | loss | 21293372 |
| nsv1060977 | CNV | gain | 25217958 |
| nsv112059 | CNV | deletion | 16902084 |
| nsv1142896 | CNV | tandem duplication | 24896259 |
| nsv472093 | CNV | novel sequence insertion | 20440878 |
| nsv472586 | CNV | novel sequence insertion | 20440878 |
| nsv833372 | CNV | loss | 17160897 |
Residual Variation Intolerance Score:
3.95% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
2.12;
38.65% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for ARHGAP44 Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- ARHGAP44
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARHGAP44 Gene
Disorders for ARHGAP44 Gene
Relevant External Links for ARHGAP44
No disorders were found for ARHGAP44 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ARHGAP44 Gene
Publications for ARHGAP44 Gene
- A CD317/tetherin-RICH2 complex plays a critical role in the organization of the subapical actin cytoskeleton in polarized epithelial cells. (PMID: 19273615) Rollason R. … Banting G. (J. Cell Biol. 2009) 2 3 4 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
- Rich, a rho GTPase-activating protein domain-containing protein involved in signaling by Cdc42 and Rac1. (PMID: 11431473) Richnau N. … Aspenstroem P. (J. Biol. Chem. 2001) 3 4 64
- Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PMID: 9734811) Ishikawa K. … Ohara O. (DNA Res. 1998) 3 4 64
Products for ARHGAP44 Gene
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- VectorBuilder custom plasmid, inducible vectors for ARHGAP44
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for ARHGAP44 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
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