Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9411
Gene name Gene Name - the full gene name approved by the HGNC.
Rho GTPase activating protein 29
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ARHGAP29
Synonyms (NCBI Gene) Gene synonyms aliases
PARG1
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p22.1-p21.3
Summary Summary of gene provided in NCBI Entrez Gene.
Rap1 is a small GTPase that, through effectors, regulates Rho GTPase signaling. These effectors- Rasip1, Radil, and the protein encoded by this gene- translocate to the cell membrane, where they form a multiprotein complex. This complex is necessary for R
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1114167280 C>G Pathogenic Splice acceptor variant
rs1114167281 G>T Pathogenic Stop gained, coding sequence variant
rs1114167282 C>T Pathogenic Splice donor variant
rs1570497770 C>T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT003762 hsa-miR-1-3p Microarray 15685193
MIRT004075 hsa-miR-124-3p Microarray 15685193
MIRT005817 hsa-miR-204-5p Microarray 21282569
MIRT004075 hsa-miR-124-3p Microarray 15685193
MIRT003762 hsa-miR-1-3p Microarray 15685193
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005737 Component Cytoplasm IBA 21873635
GO:0005737 Component Cytoplasm IDA 25468996
GO:0005829 Component Cytosol TAS
GO:0007266 Process Rho protein signal transduction TAS 9305890
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
610496 30207 ENSG00000137962
Protein
UniProt ID Q52LW3
Protein name Rho GTPase-activating protein 29 (PTPL1-associated RhoGAP protein 1) (Rho-type GTPase-activating protein 29)
Protein function GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Has strong activity toward RHOA, and weaker activity toward RAC1 and CDC42. May act as a specific effector of RAP2A to regulate Rho. In concert with RAS
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00130 C1_1 613 660 Phorbol esters/diacylglycerol binding domain (C1 domain) Domain
PF00620 RhoGAP 685 859 RhoGAP domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in skeletal muscle and heart. Expressed at intermediate level in placenta, liver and pancreas. Weakly expressed in brain, lung and kidney. {ECO:0000269|PubMed:9305890}.
Sequence
MIAHKQKKTKKKRAWASGQLSTDITTSEMGLKSLSSNSIFDPDYIKELVNDIRKFSHMLL
YLKEAIFSDCFKEVIHIRLEELLRVLKSIMNKHQNLNSVDLQNAAEMLTAKVKAVNFTEV
NEENKNDLFQEVFSSIETLAFTFGNILTNFLMGDVGNDSLLRLPVSRETKSFENVSVESV
DSSSEKGNFSPLELDNVLLKNTDSIELALSYAKTWSKYTKNIVSWVEKKLNLELESTRNM
VKLAEATRTNIGIQEFMPLQSLFTNALLNDIESSHLLQQTIAALQANKFVQPLLGRKNEM
EKQRKEIKELWKQEQNKMLEAENALKKAKLLCMQRQDEYEKAKSSMFRAEEEHLSSSGGL
AKNLNKQLEKKRRLEEEALQKVEEANELYKVCVTNVEERRNDLENTKREILAQLRTLVFQ
CDLTLKAVTVNLFHMQHLQAASLADSLQSLCDSAKLYDPGQEYSEFVKATNSTEEEKVDG
NVNKHLNSSQPSGFGPANSLEDVVRLPDSSNKIEEDRCSNSADITGPSFIRSWTFGMFSD
SESTGGSSESRSLDSESISPGDFHRKLPRTPSSGTMSSADDLDEREPPSPSETGPNSLGT
FKKTLMSKAALTHKFRKLRSPTKCRDCEGIVVFQGVECEECLLVCHRKCLENLVIICGHQ
KLPGKIHLFGAEFTQVAKKEPDGIPFILKICASEIENRALCLQGIYRVCGNKIKTEKLCQ
ALENGMHLVDISEFSSHDICDVLKLYLRQLPEPFILFRLYKEFIDLAKEIQHVNEEQETK
KNSLEDKKWPNMCIEINRILLKSKDLLRQLPASNFNSLHFLIVHLKRVVDHAEENKMNSK
NLGVIFGPSLIRPRPTTAP
ITISSLAEYSNQARLVEFLITYSQKIFDGSLQPQDVMCSIG
VVDQGCFPKPLLSPEERDIERSMKSLFFSSKEDIHTSESESKIFERATSFEESERKQNAL
GKCDACLSDKAQLLLDQEAESASQKIEDGKTPKPLSLKSDRSTNNVERHTPRTKIRPVSL
PVDRLLLASPPNERNGRNMGNVNLDKFCKNPAFEGVNRKDAATTVCSKFNGFDQQTLQKI
QDKQYEQNSLTAKTTMIMPSALQEKGVTTSLQISGDHSINATQPSKPYAEPVRSVREASE
RRSSDSYPLAPVRAPRTLQPQHWTTFYKPHAPIISIRGNEEKPASPSAAVPPGTDHDPHG
LVVKSMPDPDKASACPGQATGQPKEDSEELGLPDVNPMCQRPRLKRMQQFEDLEGEIPQF
V
Sequence length 1261
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Associations from Text Mining
Disease Name Relationship Type References
Breast Neoplasms Associate 33291460
Carcinogenesis Associate 19457610
Carcinoma Renal Cell Associate 34222474
Cleft Lip Associate 28662356
Cleft Palate Associate 24738728, 27369588, 33150183
Glioblastoma Associate 40053455
Glioma Associate 40053455
Kidney Diseases Stimulate 37443829
Lymphoma Mantle Cell Associate 17488656, 18699851
Neoplasms Inhibit 17488656