ARHGAP29

Protein identityUniProt · HPA

UniProt accession

Q52LW3

Gene

ARHGAP29

Ensembl

ENSG00000137962

Chromosome

1

Canonical length

1261 aa

Protein class

Predicted intracellular proteins

Subcellular location

Nucleoplasm,Plasma membrane,Centrosome,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

1261 residues, UniProt reviewed canonical sequence.

>Q52LW3|ARHGAP29
     1  MIAHKQKKTK KKRAWASGQL STDITTSEMG LKSLSSNSIF DPDYIKELVN DIRKFSHMLL
    61  YLKEAIFSDC FKEVIHIRLE ELLRVLKSIM NKHQNLNSVD LQNAAEMLTA KVKAVNFTEV
   121  NEENKNDLFQ EVFSSIETLA FTFGNILTNF LMGDVGNDSL LRLPVSRETK SFENVSVESV
   181  DSSSEKGNFS PLELDNVLLK NTDSIELALS YAKTWSKYTK NIVSWVEKKL NLELESTRNM
   241  VKLAEATRTN IGIQEFMPLQ SLFTNALLND IESSHLLQQT IAALQANKFV QPLLGRKNEM
   301  EKQRKEIKEL WKQEQNKMLE AENALKKAKL LCMQRQDEYE KAKSSMFRAE EEHLSSSGGL
   361  AKNLNKQLEK KRRLEEEALQ KVEEANELYK VCVTNVEERR NDLENTKREI LAQLRTLVFQ
   421  CDLTLKAVTV NLFHMQHLQA ASLADSLQSL CDSAKLYDPG QEYSEFVKAT NSTEEEKVDG
   481  NVNKHLNSSQ PSGFGPANSL EDVVRLPDSS NKIEEDRCSN SADITGPSFI RSWTFGMFSD
   541  SESTGGSSES RSLDSESISP GDFHRKLPRT PSSGTMSSAD DLDEREPPSP SETGPNSLGT
   601  FKKTLMSKAA LTHKFRKLRS PTKCRDCEGI VVFQGVECEE CLLVCHRKCL ENLVIICGHQ
   661  KLPGKIHLFG AEFTQVAKKE PDGIPFILKI CASEIENRAL CLQGIYRVCG NKIKTEKLCQ
   721  ALENGMHLVD ISEFSSHDIC DVLKLYLRQL PEPFILFRLY KEFIDLAKEI QHVNEEQETK
   781  KNSLEDKKWP NMCIEINRIL LKSKDLLRQL PASNFNSLHF LIVHLKRVVD HAEENKMNSK
   841  NLGVIFGPSL IRPRPTTAPI TISSLAEYSN QARLVEFLIT YSQKIFDGSL QPQDVMCSIG
   901  VVDQGCFPKP LLSPEERDIE RSMKSLFFSS KEDIHTSESE SKIFERATSF EESERKQNAL
   961  GKCDACLSDK AQLLLDQEAE SASQKIEDGK TPKPLSLKSD RSTNNVERHT PRTKIRPVSL
  1021  PVDRLLLASP PNERNGRNMG NVNLDKFCKN PAFEGVNRKD AATTVCSKFN GFDQQTLQKI
  1081  QDKQYEQNSL TAKTTMIMPS ALQEKGVTTS LQISGDHSIN ATQPSKPYAE PVRSVREASE
  1141  RRSSDSYPLA PVRAPRTLQP QHWTTFYKPH APIISIRGNE EKPASPSAAV PPGTDHDPHG
  1201  LVVKSMPDPD KASACPGQAT GQPKEDSEEL GLPDVNPMCQ RPRLKRMQQF EDLEGEIPQF
  1261  V

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ARHGAP29 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Intracellular

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.49

Highest tissue expression

22 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ARHGAP29.

Disease | GeneticClinVar

7 pathogenic / likely-pathogenic of 227 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Nonsyndromic cleft lip with or without cleft palate
• ARHGAP29-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.25

gnomAD pLI

1

gnomAD missense Z

1.21

DepMap mean gene effect

-0.28

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• negative regulation of small GTPase mediated signal transduction
• regulation of small GTPase mediated signal transduction
• Rho protein signal transduction

Molecular functions

• GTPase activator activity
• PDZ domain binding
• zinc ion binding

Cellular components

• cytoplasm
• cytosol
• protein-containing complex

Protein domainsUniProt · Pfam · InterPro

• Rho GTPase-activating protein domain
• Protein kinase C-like, phorbol ester/diacylglycerol-binding domain
• Rho GTPase activation protein
• AH/BAR domain superfamily
• F-BAR domain
• C1-like domain superfamily
• Rho GTPase-activating
• GMIP/FCHO2-like, FCH domain
• Rho GTPase-activating protein 29/45, N-terminal
• Phorbol esters/diacylglycerol binding domain (C1 domain)
• RhoGAP domain
• GEM-interacting protein-like, FCH domain
• Rho GTPase-activating protein 29/45 N-terminal

KeywordsUniProt

• Coiled coil
• GTPase activation
• Metal-binding
• Phosphoprotein
• Zinc
• Zinc-finger

InteractionsUniProt · HPA

Protein binding partners of ARHGAP29 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• RAP2A
• RASIP1
• PTPN13