ARHGAP29 (Rho GTPase activating protein 29)

Gene

• Entrez ID: 9411
• Gene name: Rho GTPase activating protein 29
• Gene symbol: ARHGAP29
• Synonyms: PARG1
• Chromosome: 1
• Chromosome location: 1p22.1
• Summary: 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 Rap1-induced inhibition of Rho signaling. Defects in this gene may be a cause of nonsyndromic cleft lip with or without cleft palate. [provided by RefSeq, Jun 2016]

SNPs

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

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
MIRT024335	hsa-miR-215-5p	Microarray	19074876
MIRT026359	hsa-miR-192-5p	Microarray	19074876
MIRT442540	hsa-miR-6083	PAR-CLIP	22100165
MIRT442541	hsa-miR-190a-3p	PAR-CLIP	22100165
MIRT442542	hsa-miR-410-3p	PAR-CLIP	22100165
MIRT442543	hsa-miR-3163	PAR-CLIP	22100165
MIRT442544	hsa-miR-3936	PAR-CLIP	22100165
MIRT442545	hsa-miR-6782-5p	PAR-CLIP	22100165
MIRT660540	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT660541	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT660542	hsa-miR-4284	HITS-CLIP	23824327
MIRT660543	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT660544	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT660545	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT660546	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT660547	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT660548	hsa-miR-150-5p	HITS-CLIP	23824327
MIRT660549	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT660550	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT660551	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT660552	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT746919	hsa-miR-4681	PAR-CLIP	26701625
MIRT748859	hsa-miR-4786-3p	PAR-CLIP	26701625
MIRT751212	hsa-miR-5692a	PAR-CLIP	26701625
MIRT765349	hsa-miR-3190-5p	PAR-CLIP	27292025
MIRT767691	hsa-miR-3926	PAR-CLIP	27292025
MIRT770977	hsa-miR-4684-5p	PAR-CLIP	27292025
MIRT772692	hsa-miR-490-3p	PAR-CLIP	27292025
MIRT774295	hsa-miR-548c-3p	PAR-CLIP	27292025
MIRT774482	hsa-miR-548s	PAR-CLIP	27292025
MIRT775370	hsa-miR-593-3p	PAR-CLIP	27292025
MIRT779826	hsa-miR-6818-3p	PAR-CLIP	27292025
MIRT781285	hsa-miR-6895-3p	PAR-CLIP	27292025

Gene ontology (GO)

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
GO:0030165	Function	PDZ domain binding	IDA	23209302
GO:0032991	Component	Protein-containing complex	IDA	26780829
GO:0046872	Function	Metal ion binding	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS
GO:0090630	Process	Activation of GTPase activity	IBA	21873635

Other IDs

• MIM: 610496
• HGNC: 30207
• e!Ensembl: 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 RASIP1, suppresses RhoA signaling and dampens ROCK and MYH9 activities in endothelial cells and plays an essential role in blood vessel tubulogenesis.
• 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

• Sequence:

  MIAHKQKKTKKKRAWASGQLSTDITTSEMGLKSLSSNSIFDPDYIKELVNDIRKFSHMLL
  YLKEAIFSDCFKEVIHIRLEELLRVLKSIMNKHQNLNSVDLQNAAEMLTAKVKAVNFTEV
  NEENKNDLFQEVFSSIETLAFTFGNILTNFLMGDVGNDSLLRLPVSRETKSFENVSVESV
  DSSSEKGNFSPLELDNVLLKNTDSIELALSYAKTWSKYTKNIVSWVEKKLNLELESTRNM
  VKLAEATRTNIGIQEFMPLQSLFTNALLNDIESSHLLQQTIAALQANKFVQPLLGRKNEM
  EKQRKEIKELWKQEQNKMLEAENALKKAKLLCMQRQDEYEKAKSSMFRAEEEHLSSSGGL
  AKNLNKQLEKKRRLEEEALQKVEEANELYKVCVTNVEERRNDLENTKREILAQLRTLVFQ
  CDLTLKAVTVNLFHMQHLQAASLADSLQSLCDSAKLYDPGQEYSEFVKATNSTEEEKVDG
  NVNKHLNSSQPSGFGPANSLEDVVRLPDSSNKIEEDRCSNSADITGPSFIRSWTFGMFSD
  SESTGGSSESRSLDSESISPGDFHRKLPRTPSSGTMSSADDLDEREPPSPSETGPNSLGT
  FKKTLMSKAALTHKFRKLRSPTKCRDCEGIVVFQGVECEECLLVCHRKCLENLVIICGHQ
  KLPGKIHLFGAEFTQVAKKEPDGIPFILKICASEIENRALCLQGIYRVCGNKIKTEKLCQ
  ALENGMHLVDISEFSSHDICDVLKLYLRQLPEPFILFRLYKEFIDLAKEIQHVNEEQETK
  KNSLEDKKWPNMCIEINRILLKSKDLLRQLPASNFNSLHFLIVHLKRVVDHAEENKMNSK
  NLGVIFGPSLIRPRPTTAPITISSLAEYSNQARLVEFLITYSQKIFDGSLQPQDVMCSIG
  VVDQGCFPKPLLSPEERDIERSMKSLFFSSKEDIHTSESESKIFERATSFEESERKQNAL
  GKCDACLSDKAQLLLDQEAESASQKIEDGKTPKPLSLKSDRSTNNVERHTPRTKIRPVSL
  PVDRLLLASPPNERNGRNMGNVNLDKFCKNPAFEGVNRKDAATTVCSKFNGFDQQTLQKI
  QDKQYEQNSLTAKTTMIMPSALQEKGVTTSLQISGDHSINATQPSKPYAEPVRSVREASE
  RRSSDSYPLAPVRAPRTLQPQHWTTFYKPHAPIISIRGNEEKPASPSAAVPPGTDHDPHG
  LVVKSMPDPDKASACPGQATGQPKEDSEELGLPDVNPMCQRPRLKRMQQFEDLEGEIPQF
  V

• Sequence length: 1261