1. Gene
  2. ARHGAP29 - Rho GTPase activating protein 29 Gene

ARHGAP29 - Rho GTPase activating protein 29 Gene

Homo sapiens

Also known as PARG1

Gene ID: 9411 | Gene type: protein coding

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

ARHGAP29 Protein Structure

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (616 - 659)

RhoGAP

RhoGAP: RhoGAP domain (685 - 856)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 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

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