ARHGAP31
Rho GTPase-activating protein 31
Also known as: CDGAP, RHG31_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q2M1Z3
- Gene
- ARHGAP31
- Ensembl
- ENSG00000031081
- Chromosome
- 3
- Canonical length
- 1444 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
OverviewNCBI Gene
This gene encodes a GTPase-activating protein (GAP). A variety of cellular processes are regulated by Rho GTPases which cycle between an inactive form bound to GDP and an active form bound to GTP. This cycling between inactive and active forms is regulated by guanine nucleotide exchange factors and GAPs. The encoded protein is a GAP shown to regulate two GTPases involved in protein trafficking and cell growth. [provided by RefSeq, Jul 2008]
Canonical amino-acid sequenceUniProt
1444 residues, UniProt reviewed canonical sequence.
>Q2M1Z3|ARHGAP31
1 MKNKGAKQKL KRKGAASAFG CDLTEYLESS GQDVPYVLKS CAEFIETHGI VDGIYRLSGV
61 TSNIQRLRQE FGSDQCPDLT REVYLQDIHC VGSLCKLYFR ELPNPLLTYE LYEKFTEAVS
121 HCPEEGQLAR IQNVIQELPP SHYRTLEYLI RHLAHIASFS SKTNMHARNL ALVWAPNLLR
181 SKEIEATGCN GDAAFLAVRV QQVVIEFILN HVDQIFNNGA PGSLENDENR PIMKSLTLPA
241 LSLPMKLVSL EEAQARSLAT NHPARKERRE NSLPEIVPPM GTLFHTVLEL PDNKRKLSSK
301 SKKWKSIFNL GRSGSDSKSK LSRNGSVFVR GQRLSVEKAT IRPAKSMDSL CSVPVEGKET
361 KGNFNRTVTT GGFFIPATKM HSTGTGSSCD LTKQEGEWGQ EGMPPGAEGG FDVSSDRSHL
421 QGAQARPPPE QLKVFRPVED PESEQTAPKM LGMFYTSNDS PSKSVFTSSL FQMEPSPRNQ
481 RKALNISEPF AVSVPLRVSA VISTNSTPCR TPPKELQSLS SLEEFSFHGS ESGGWPEEEK
541 PLGAETSAAS VPKKAGLEDA KAVPEAPGTV ECSKGLSQEP GAHLEEKKTP ESSLSSQHLN
601 ELEKRPNPEK VVEEGREAGE MESSTLQESP RARAEAVLLH EMDEDDLANA LIWPEIQQEL
661 KIIESEEELS SLPPPALKTS PIQPILESSL GPFIPSEPPG SLPCGSFPAP VSTPLEVWTR
721 DPANQSTQGA STAASREKPE PEQGLHPDLA SLAPLEIVPF EKASPQATVE VGGPGNLSPP
781 LPPAPPPPTP LEESTPVLLS KGGPEREDSS RKLRTDLYID QLKSQDSPEI SSLCQGEEAT
841 PRHSDKQNSK NAASEGKGCG FPSPTREVEI VSQEEEDVTH SVQEPSDCDE DDTVTDIAQH
901 GLEMVEPWEE PQWVTSPLHS PTLKDAHKAQ VQGLQGHQLE KRLSHRPSLR QSHSLDSKPT
961 VKSQWTLEVP SSSSCANLET ERNSDPLQPQ APRREITGWD EKALRSFREF SGLKGAEAPP
1021 NQKGPSGVQP NPAETSPISL AEGKELGTHL GHSSPQIRQG GVPGPESSKE SSPSVQDSTS
1081 PGEHPAKLQL KSTECGPPKG KNRPSSLNLD PAIPIADLFW FENVASFSSP GMQVSEPGDP
1141 KVTWMTSSYC KADPWRVYSQ DPQDLDIVAH ALTGRRNSAP VSVSAVRTSF MVKMCQARAV
1201 PVIPPKIQYT QIPQPLPSQS SGENGVQPLE RSQEGPSSTS GTTQKPAKDD SPSSLESSKE
1261 EKPKQDPGAI KSSPVDATAP CMCEGPTLSP EPGSSNLLST QDAVVQCRKR MSETEPSGDN
1321 LLSSKLERPS GGSKPFHRSR PGRPQSLILF SPPFPIMDHL PPSSTVTDSK VLLSPIRSPT
1381 QTVSPGLLCG ELAENTWVTP EGVTLRNKMT IPKNGQRLET STSCFYQPQR RSVILDGRSG
1441 RQIELocalizationUniProt · AlphaFold · HPA
Whether an antibody against ARHGAP31 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
- Cell surface
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.63
- Highest tissue expression
- 18 nTPM
Expression across tissuesHPA
Tissue
- lung: 18 nTPM
- adipose tissue: 16 nTPM
- heart muscle: 12 nTPM
- thyroid gland: 12 nTPM
- smooth muscle: 11 nTPM
- placenta: 11 nTPM
Single-cell type
- bergmann glia: 585 nCPM
- vascular endothelial cells: 398 nCPM
- oligodendrocyte progenitor cells: 296 nCPM
- cdc: 283 nCPM
- microglia: 259 nCPM
- astrocytes: 208 nCPM
Immune cell
- myeloid DC: 6 nTPM
- plasmacytoid DC: 5.2 nTPM
- intermediate monocyte: 2.8 nTPM
- classical monocyte: 2.6 nTPM
- memory B-cell: 1.6 nTPM
- total PBMC: 1.2 nTPM
Brain region
- medulla oblongata: 33 nTPM
- thalamus: 32 nTPM
- midbrain: 31 nTPM
- cerebellum: 30 nTPM
- white matter: 29 nTPM
- pons: 28 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ARHGAP31.
Disease | AllUniProt
Conditions ARHGAP31 is implicated in, by any mechanism.
- Adams-Oliver syndrome 1 (AOS1) MIM:100300
Disease | GeneticClinVar
4 pathogenic / likely-pathogenic of 665 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Adams-Oliver syndrome 1
- Cerebral palsy
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)
- 0.19
- gnomAD pLI
- 1
- gnomAD missense Z
- 0.8
- DepMap mean gene effect
- -0.04
- 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
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ARHGAP31 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ARHGAP31 as an antibody target. Whether an autoantibody or antibody against ARHGAP31 could matter depends on whether native ARHGAP31 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ARHGAP31 is annotated at the cell surface, where native ARHGAP31 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ARHGAP31 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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