ARHGAP29 - Rho GTPase activating protein 29 Gene

Also Known as PARG1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9411

About ARHGAP29

Cytogenetic location: 1p22.1-p21.3 Genomic coordinates (GRCh38): 1:94,168,905-94,314,592 (from NCBI)

This gene has 5 transcripts (splice variants), 214 orthologues, 2 paralogues and is associated with 1 phenotype. Broad expression in lung (RPKM 15.0), thyroid (RPKM 13.9) and 23 other tissues.

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]

ARHGAP29 Products (5)

mRNA	Protein	Name
NM_001328664.2	NP_001315593.1	rho GTPase-activating protein 29 isoform a
NM_001328665.2	NP_001315594.1	rho GTPase-activating protein 29 isoform b
NM_001328666.2	NP_001315595.1	rho GTPase-activating protein 29 isoform c
NM_001328667.2	NP_001315596.1	rho GTPase-activating protein 29 isoform b
NM_004815.4	NP_004806.3	rho GTPase-activating protein 29 isoform a

Gene Ontology

Molecular Function
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables PDZ domain binding	IDA IDA: Inferred from direct assay	23209302	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32814053	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	25468996	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	26780829	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ARHGAP29 Protein Structure

C1_1

RhoGAP

0
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400
600
800
1000
1200
1261 a.a.

Protein Preferred Names	Protein Names
rho GTPase-activating protein 29	PTPL1-associated RhoGAP 1 (PARG1)

Related Diseases

Diseases	Alias
Cleft Lip/Palate	Cleft Lip And Palate Alveolar Cleft Lip And Palate Cleft Lip-Alveolus-Palate Syndrome Flp
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Cleft Lip With Or Without Cleft Palate	Tessier Cleft Number 1,2
Van Der Woude Syndrome	Lip-Pit Syndrome Vws Cleft Lip And/Or Palate With Mucous Cysts Of Lower Lip Vdws Lps Lip Pit Syndrome Cleft Lip/Palate With Mucous Cysts Of Lower Lip Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments
Orofacial Cleft 15	OFC15 Non-Syndromic Orofacial Cleft 15
Hypothyroidism, Thyroidal Or Athyroidal, With Spiky Hair And Cleft Palate	Bamforth-Lazarus Syndrome Bamforth Syndrome Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate Hypothyroidism Cleft Palate Hypothyroidism, Athyroidal, With Spiky Hair And Cleft Palate Athyroidal Hypothyroidism-Spiky Hair-Cleft Palate Syndrome Hypothyroidism-Cleft Palate Syndrome BLS Athyroidal Hypothyroidism With Spiky Hair And Cleft Palate
Popliteal Pterygium Syndrome	PPS Faciogenitopopliteal Syndrome Facio-Genito-Popliteal Syndrome Popliteal Web Syndrome Autosomal Dominant Popliteal Pterygium Syndrome Cleft Lip/Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies Popliteal Pterygium Syndrome 1 Cleft Lip/Palate Paramedian Mucous Cysts Of The Lower Lip Popliteal Pterygium Digital And Genital Anomalies Popliteal Pterygium
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Adhesions Of Uterus	Intrauterine Adhesions Intrauterine Synechiae Band Of Uterus Asherman Syndrome Internal Adhesion Of Uterus Internal Band Of Uterus
Blepharocheilodontic Syndrome 1	Blepharocheilodontic Syndrome Bcd Syndrome Elschnig Syndrome Clefting, Ectropion, And Conical Teeth Lagophthalmia With Bilateral Cleft Lip And Palate Blepharo-Cheilo-Odontic Syndrome Bcds Ectropion, Inferior, With Cleft Lip And/Or Palate Blepharo-Cheilo-Dontic Syndrome BCDS1 Ectropion Inferior Cleft Lip And Or Palate Clefting-Ectropion-Conical Teeth Syndrome Ectropion Inferior-Cleft Lip And/Or Palate Syndrome Lagophthalmia-Cleft Lip And Palate Syndrome Blepharocheilodontic Syndrome, Type 1
Orofacial Cleft	Cleft, Orofacial
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00928	ARHGAP29 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ARHGAP29	RGD	RGD:1306185
Canis familiaris	ARHGAP29	VGNC	VGNC:38056
Mus musculus	ARHGAP29	MGD	MGI:2443818
Felis catus	ARHGAP29	VGNC	VGNC:59886
Macaca mulatta	ARHGAP29	VGNC	VGNC:69928
Bos taurus	ARHGAP29	VGNC	VGNC:26087
Others	ARHGAP29	NCBI