Gene: Arhgap29

Basic information

Tag Content
Uniprot ID Q8CGF1; Q3V135; Q7TMW2; Q8BLJ2; Q8BLR8;
Entrez ID 214137
Genbank protein ID BAC31603.2; AAH52858.1; BAE21318.1; AAH40387.1; BAC32168.2;
Genbank nucleotide ID NM_172525.2; XM_006501288.3;
Ensembl protein ID ENSMUSP00000044624
Ensembl nucleotide ID ENSMUSG00000039831
Gene name Rho GTPase-activating protein 29
Gene symbol Arhgap29
Organism Mus musculus
NCBI taxa ID 10090
Cleft type CPO
Developmental stage E13.5
Data sources Manually collected
Reference 28817352
Functional description 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 (By similarity). 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.
Sequence
MIAHKQKKAK KKRVWASGQP SAAITTSEMG LKSVSSSSSF DPEYIKELVN DVRKFSHMLL 60
YLKEAILSDC FKEVIHIRLD ELLRVLKSIL SKHQNLSSVD LQSAAEVLTA KVKAVNFTEV 120
NEENKNDIFR EVFSSIETLA FTFGNILTNF LMGDVGSDSI LRLPISRESK SFENISVDSV 180
DLPHEKGNFS PIELDNLLLK NTDSIELALS YAKTWSKYTK NIVSWVEKKL NLELESTRNI 240
VKLAEATRSS IGIQEFMPLQ SLFTNALLSD IHSSHLLQQT IAALQANKFV QPLLGRKNEM 300
EKQRKEIKDL WKQQQNKLLE TETALKKAKL LCMQRQDEYE KAKSSMFRAE EEQLSSSVGL 360
AKNLNKQLEK RRRLEEEALQ KVEEANEHYK VCVTNVEERR NDLENTKREI LTQLRTLVFQ 420
CDLTLKAVTV NLFHMQQLQA ASLANSLQSL CDSAKLYDPG QEYSEFVKAT SSSELEEKVD 480
GNVNKQMTNS PQTSGYEPAD SLEDVARLPD SCHKLEEDRC SNSADMTGPS FVRSWKFGMF 540
SDSESTGGSS ESRSLDSESI SPGDFHRKLP RTPSSGTMSS ADDLDEREPP SPSEAGPNSL 600
GAFKKTLMSK AALTHKFRKL RSPTKCRDCD GIVMFPGVEC EECLLVCHRK CLENLVIICG 660
HQKLQGKMHI FGAEFIQVAK KEPDGIPFVL KICASEIENR ALCLQGIYRV CGNKIKTEKL 720
CQALENGMHL VDISEFSSHD ICDVLKLYLR QLPEPFILFR LYKEFIDLAK EIQHVNEEQE 780
AKKDSPEDKK HPHVSIEVNR ILLKSKDLLR QLPASHFNSL HYLIAHLRRV VDHAEENKMN 840
SKNLGVIFGP TLIRPRPTTA PVTISSLAEY SNQARLVEFL ITYSQKIFDG SLQPQAVVIS 900
NTGAVAPQVD QGYLPKPLLS PDERDTDHSM KPLFFSSKED IRSSDCESKS FELTTSFEES 960
ERRQNALGKC DAPLLDNKVH LLFDQEHESA SQKMEDVCKS PKLLLLKSNR AANSVQRHTP 1020
RTKMRPVSLP VDRLLLLASS PTERSSRDVG NVDSDKFGKN PAFEGLHRKD NSNTTRSKVN 1080
GFDQQNVQKS WDTQYVRNNF TAKTTMIVPS AYPEKGLTVN TGNNRDHPGS KAHAEPARAA 1140
GDVSERRSSD SCPATAVRAP RTLQPQHWTT FYKPPNPTFS VRGTEEKTAL PSIAVPPVLV 1200
HAPQIHVTKS DPDSEATLAC PVQTSGQPKE SSEEPALPEG TPTCQRPRLK RMQQFEDLED 1260
EIPQFV 1266

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression during embryonic days (E11.5~E18.5) ~ adult days (Ps) in the lip and palate tissues. (X-axis: days, Y-axis: tissues)

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Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologARHGAP29504657A7YY57Bos taurusPredictionMore>>
1:1 orthologARHGAP29479940E2RRA9Canis lupus familiarisPredictionMore>>
1:1 orthologARHGAP29A0A452E8A9Capra hircusPredictionMore>>
1:1 orthologARHGAP299411Q52LW3CPO,CL/PHomo sapiensPublicationMore>>
1:1 orthologArhgap29214137Q8CGF1CPOE13.5Mus musculusPublicationMore>>
1:1 orthologARHGAP29A0A2I3TR42Pan troglodytesPredictionMore>>
1:1 orthologARHGAP29100152734F1S540Sus scrofaPredictionMore>>
1:1 orthologARHGAP29100351674G1SXZ8Oryctolagus cuniculusPredictionMore>>
1:1 orthologArhgap29310833F1LPZ1Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
ARHGAP29c. 94A>TDNA extraction and polymerase chain reaction25512736
ARHGAP29rs1541098Genotyping25163644
ARHGAP29rs3789688Genotyping25163644
ARHGAP29rs1576593Genotyping25163644
ARHGAP29rs560426GWAS3221112
ARHGAP29c.62_63delCT; p.S21Yfs*20Sequencing23008150
ARHGAP29c.76A>G; p.Thr26AlaSequencing23008150
ARHGAP29c.137A>G; p.Lys46ArgSequencing23008150
ARHGAP29c.888G>C; p.Arg296SerSequencing23008150
ARHGAP29c.976A>T; p.Lys326*Sequencing23008150
ARHGAP29rs148959325; c.1252G>A; p.Val418IleSequencing23008150
ARHGAP29c.1847G>A; p.Arg616HisSequencing23008150
ARHGAP29c1865C>T; p.Thr622MetSequencing23008150
ARHGAP29c.2017T>G; p.Phe673ValSequencing23008150
ARHGAP29rs113546321; c.2864G>A; p.Arg955HisSequencing23008150
ARHGAP29rs140638899; c.3023G>A; p.Arg1008LysSequencing23008150
ARHGAP29c.3425G>A; p.Arg1142GlnSequencing23008150
ARHGAP29c.3604G>T; p.Val1202LeuSequencing23008150
ARHGAP29rs1999272; c.3764G>A; p.Asp1255GlySequencing23008150
ARHGAP29c.2492G>A; p.Ala832ThrSequencing23008150
ARHGAP29c.2533A>G; p.Ile845ValSequencing23008150
ARHGAP29c.976A>T; p.Lys326*GWAS and Sanger sequencing25704602
ARHGAP29c.1939C>T; p.Arg647*GWAS and Sanger sequencing25704602
ARHGAP29c.2367G>T; p.Trp789*GWAS and Sanger sequencing25704602
ARHGAP29c.3118G>T; p.Gly1040*GWAS and Sanger sequencing25704602
ARHGAP29c.1920+1G>AChromoosme miroarray; WES and Sanger sequencing32698641
ARHGAP29c.2864G>A; p.Arg955HisGWAS25081408
ARHGAP29c.2738C>A; p.Ser913LeuGWAS25081408
ARHGAP29rs481931C>AGWAS28232668
ARHGAP29rs4147803C>GGWAS28232668
ARHGAP29c.2615C>T; p.A872VWES33150183
ARHGAP29rs4147882Genotyping and GWAS27033726
ARHGAP29rs12088309Genotyping and GWAS27033726
ARHGAP29rs3789431Genotyping and GWAS27033726

Other genetic variants/mutations

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0005096 GTPase activator activityIEA
GO:0005515 protein bindingIPI
GO:0030165 PDZ domain bindingISO
GO:0046872 metal ion bindingIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0035556 intracellular signal transductionIEA
GO:0043547 positive regulation of GTPase activityIEA

GO:Cellular Component

GO ID GO Term Evidence
GO:0005737 cytoplasmISO
GO:0032991 protein-containing complexISO

Reactome Pathway

Reactome ID Reactome Term Evidence
R-MMU-162582 Signal TransductionIEA
R-MMU-194315 Signaling by Rho GTPasesIEA
R-MMU-194840 Rho GTPase cycleIEA

Functional annotations

Keywords

Keyword ID Keyword Term
KW-0025 Alternative splicing
KW-0175 Coiled coil
KW-0343 GTPase activation
KW-0479 Metal-binding
KW-0597 Phosphoprotein
KW-1185 Reference proteome
KW-0862 Zinc
KW-0863 Zinc-finger

Interpro

InterPro ID InterPro Term
IPR027267 AH/BAR_dom_sf
IPR031160 F_BAR
IPR002219 PE/DAG-bd
IPR008936 Rho_GTPase_activation_prot
IPR000198 RhoGAP_dom

PROSITE

PROSITE ID PROSITE Term
PS51741 F_BAR
PS50238 RHOGAP
PS00479 ZF_DAG_PE_1
PS50081 ZF_DAG_PE_2

Pfam

Pfam ID Pfam Term
PF00130 C1_1
PF00620 RhoGAP

Protein-protein interaction

Protein-miRNA interaction