ARHGAP29 - Rho GTPase activating protein 29 Gene

中文名称：Rho GTP 酶激活蛋白 29

种属: Homo sapiens

同用名: PARG1

基因 ID: 9411 | 基因类型: protein coding

关于 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.

功能概要

Rap1 是一种小 GTPase，通过效应器调节 Rho GTPase 信号。这些效应子——Rasip1、Radil 和该基因编码的蛋白质——易位到细胞膜，在那里它们形成多蛋白复合物。这种复合物对于 Rap1 诱导的 Rho 信号抑制是必需的。该基因的缺陷可能是伴有或不伴有腭裂的非综合征性唇裂的原因。[RefSeq 提供，2016 年 6 月]

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 基因产物(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

基因本体论

分子功能
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables PDZ domain binding	IDA IDA: 通过直接分析推断	23209302	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	32814053	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	25468996	GOA
part of protein-containing complex	IDA IDA: 通过直接分析推断	26780829	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

ARHGAP29 蛋白结构

C1_1

RhoGAP

0
200
400
600
800
1000
1261 a.a.

蛋白主名

其他名称

rho GTPase-activating protein 29

PTPL1-associated RhoGAP 1 (PARG1)

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS00928	ARHGAP29 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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

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