ARHGAP31

ARHGAP31
Identifikatori
Aliasi	ARHGAP31
Vanjski ID-jevi	OMIM: 610911 MGI: 1333857 HomoloGene: 10644 GeneCards: ARHGAP31
Lokacija gena (čovjek)
Hrom.	Hromosom 3 (čovjek)
Kraj	119,420,714 bp
Lokacija gena (miš)
Hrom.	Hromosom 16 (miš)
Kraj	38,533,636 bp
Ontologija gena
Molekularna funkcija	• SH3 domain binding; • GO:0005097, GO:0005099, GO:0005100 GTPase activator activity;
Ćelijska komponenta	• citosol; • međućelijske veze; • projekcija ćelije; • focal adhesion; • lamellipodium;
Biološki proces	• GO:0032320, GO:0032321, GO:0032855, GO:0043089, GO:0032854 positive regulation of GTPase activity; • regulation of small GTPase mediated signal transduction; • GO:0072468 Transdukcija signala; • small GTPase mediated signal transduction;
	Izvori:Amigo / QuickGO
Ortolozi
	57514
	12549
	ENSG00000031081
	ENSMUSG00000022799
	Q2M1Z3
	A6X8Z5
	NM_020754
	NM_020260
	NP_065805
	NP_064656
	Wikipodaci
Pogledaj/uredi – čovjek	Pogledaj/uredi – miš

Rho GTPaza aktivirajući protein 31 jest protein koji je kod ljudi kodiran genom ARHGAP31 sa hromosoma 3. To je regulator Cdc42/Rac1 GTPaze .^[5]

Aminokiselinska sekvenca

Dužina polipeptidnog lanca je 1.444 aminokiselina, а molekulska težina 156.985 Da.^[6]

C: Cistein

D: Asparaginska kiselina

E: Glutaminska kiselina

F: Fenilalanin

G: Glicin

H: Histidin

I: Izoleucin

K: Lizin

L: Leucin

M: Metionin

N: Asparagin

P: Prolin

Q: Glutamin

R: Arginin

S: Serin

T: Treonin

V: Valin

W: Triptofan

Y: Tirozin

10	20	30	40	50
MKNKGAKQKL	KRKGAASAFG	CDLTEYLESS	GQDVPYVLKS	CAEFIETHGI
VDGIYRLSGV	TSNIQRLRQE	FGSDQCPDLT	REVYLQDIHC	VGSLCKLYFR
ELPNPLLTYE	LYEKFTEAVS	HCPEEGQLAR	IQNVIQELPP	SHYRTLEYLI
RHLAHIASFS	SKTNMHARNL	ALVWAPNLLR	SKEIEATGCN	GDAAFLAVRV
QQVVIEFILN	HVDQIFNNGA	PGSLENDENR	PIMKSLTLPA	LSLPMKLVSL
EEAQARSLAT	NHPARKERRE	NSLPEIVPPM	GTLFHTVLEL	PDNKRKLSSK
SKKWKSIFNL	GRSGSDSKSK	LSRNGSVFVR	GQRLSVEKAT	IRPAKSMDSL
CSVPVEGKET	KGNFNRTVTT	GGFFIPATKM	HSTGTGSSCD	LTKQEGEWGQ
EGMPPGAEGG	FDVSSDRSHL	QGAQARPPPE	QLKVFRPVED	PESEQTAPKM
LGMFYTSNDS	PSKSVFTSSL	FQMEPSPRNQ	RKALNISEPF	AVSVPLRVSA
VISTNSTPCR	TPPKELQSLS	SLEEFSFHGS	ESGGWPEEEK	PLGAETSAAS
VPKKAGLEDA	KAVPEAPGTV	ECSKGLSQEP	GAHLEEKKTP	ESSLSSQHLN
ELEKRPNPEK	VVEEGREAGE	MESSTLQESP	RARAEAVLLH	EMDEDDLANA
LIWPEIQQEL	KIIESEEELS	SLPPPALKTS	PIQPILESSL	GPFIPSEPPG
SLPCGSFPAP	VSTPLEVWTR	DPANQSTQGA	STAASREKPE	PEQGLHPDLA
SLAPLEIVPF	EKASPQATVE	VGGPGNLSPP	LPPAPPPPTP	LEESTPVLLS
KGGPEREDSS	RKLRTDLYID	QLKSQDSPEI	SSLCQGEEAT	PRHSDKQNSK
NAASEGKGCG	FPSPTREVEI	VSQEEEDVTH	SVQEPSDCDE	DDTVTDIAQH
GLEMVEPWEE	PQWVTSPLHS	PTLKDAHKAQ	VQGLQGHQLE	KRLSHRPSLR
QSHSLDSKPT	VKSQWTLEVP	SSSSCANLET	ERNSDPLQPQ	APRREITGWD
EKALRSFREF	SGLKGAEAPP	NQKGPSGVQP	NPAETSPISL	AEGKELGTHL
GHSSPQIRQG	GVPGPESSKE	SSPSVQDSTS	PGEHPAKLQL	KSTECGPPKG
KNRPSSLNLD	PAIPIADLFW	FENVASFSSP	GMQVSEPGDP	KVTWMTSSYC
KADPWRVYSQ	DPQDLDIVAH	ALTGRRNSAP	VSVSAVRTSF	MVKMCQARAV
PVIPPKIQYT	QIPQPLPSQS	SGENGVQPLE	RSQEGPSSTS	GTTQKPAKDD
SPSSLESSKE	EKPKQDPGAI	KSSPVDATAP	CMCEGPTLSP	EPGSSNLLST
QDAVVQCRKR	MSETEPSGDN	LLSSKLERPS	GGSKPFHRSR	PGRPQSLILF
SPPFPIMDHL	PPSSTVTDSK	VLLSPIRSPT	QTVSPGLLCG	ELAENTWVTP
EGVTLRNKMT	IPKNGQRLET	STSCFYQPQR	RSVILDGRSG	RQIE

Funkcija

ARHGAP31 kodira protein koji aktivira GTPazu (GAP). Različiti ćelijski procesi su regulisani Rho GTPazama koje kruže između neaktivnog oblika vezanog za GDP i aktivnog oblika vezanog za GTP. Ovo kruženje između neaktivnih i aktivnih oblika regulirano je faktorima izmjene guaninskih nukleotida i GAP-ovima. Kodirani protein je GAP za koji je pokazano da regulira dvije GTPaze uključene u proteinsko ciljanje i ćelijski rast.^[5]

Klinički značaj

Mutacije ARHGAP31 rezultiraju gubitkom dostupnog aktivnog Cdc42 i posljedično narušavaju aktinske citoskeletne strukture, uzrokujući sindromsku aplaziju kutisa i anomalije ekstremiteta.^[7]

Reference

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000031081 - Ensembl, maj 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000022799 - Ensembl, maj 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene".
^ "UniProt, Q2M1Z3" (jezik: engleski). Pristupljeno 6. 11. 2021.
^ Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, Fitzpatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC (maj 2011). "Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies". Am. J. Hum. Genet. 88 (5): 574–85. doi:10.1016/j.ajhg.2011.04.013. PMC 3146732. PMID 21565291.

Dopunska literatura

Bandyopadhyay S, Chiang CY, Srivastava J, et al. (2010). "A human MAP kinase interactome". Nat. Methods. 7 (10): 801–5. doi:10.1038/nmeth.1506. PMC 2967489. PMID 20936779.
Jenna S, Hussain NK, Danek EI, et al. (2002). "The activity of the GTPase-activating protein CdGAP is regulated by the endocytic protein intersectin". J. Biol. Chem. 277 (8): 6366–73. doi:10.1074/jbc.M105516200. PMID 11744688.
Zhao C, Ma H, Bossy-Wetzel E, et al. (2003). "GC-GAP, a Rho family GTPase-activating protein that interacts with signaling adapters Gab1 and Gab2". J. Biol. Chem. 278 (36): 34641–53. doi:10.1074/jbc.M304594200. PMID 12819203.
Barrios-Rodiles M, Brown KR, Ozdamar B, et al. (2005). "High-throughput mapping of a dynamic signaling network in mammalian cells". Science. 307 (5715): 1621–5. Bibcode:2005Sci...307.1621B. doi:10.1126/science.1105776. PMID 15761153. S2CID 39457788.
Bonaldo MF, Lennon G, Soares MB (1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
Danek EI, Tcherkezian J, Triki I, et al. (2007). "Glycogen synthase kinase-3 phosphorylates CdGAP at a consensus ERK 1 regulatory site". J. Biol. Chem. 282 (6): 3624–31. doi:10.1074/jbc.M610073200. PMID 17158447.
Nagase T, Ishikawa K, Kikuno R, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (5): 337–45. doi:10.1093/dnares/6.5.337. PMID 10574462.
Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Tcherkezian J, Triki I, Stenne R, et al. (2006). "The human orthologue of CdGAP is a phosphoprotein and a GTPase-activating protein for Cdc42 and Rac1 but not RhoA". Biol. Cell. 98 (8): 445–56. doi:10.1042/BC20050101. PMID 16519628. S2CID 25545141.
Dubois PC, Trynka G, Franke L, et al. (2010). "Multiple common variants for celiac disease influencing immune gene expression". Nat. Genet. 42 (4): 295–302. doi:10.1038/ng.543. PMC 2847618. PMID 20190752.
Lamarche-Vane N, Hall A (1998). "CdGAP, a novel proline-rich GTPase-activating protein for Cdc42 and Rac". J. Biol. Chem. 273 (44): 29172–7. doi:10.1074/jbc.273.44.29172. PMID 9786927.
Horne BD, Hauser ER, Wang L, et al. (2009). "Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking". Ann. Hum. Genet. 73 (Pt 6): 551–8. doi:10.1111/j.1469-1809.2009.00540.x. PMC 2764812. PMID 19706030.

Vanjski linkovi

Ovaj članak uključuje tekst iz Nacionalne medicinske biblioteke Sjedinjenih Država, koji je u javnom vlasništvu.

Lokacija ljudskog genoma ARHGAP31 i stranica sa detaljima o genu ARHGAP31 u UCSC Genome Browseru.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000031081 - Ensembl, maj 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000022799 - Ensembl, maj 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene".

[UniProt-6] "UniProt, Q2M1Z3" (jezik: engleski). Pristupljeno 6. 11. 2021.

[pmid21565291-7] Southgate L, Machado RD, Snape KM, Primeau M, Dafou D, Ruddy DM, Branney PA, Fisher M, Lee GJ, Simpson MA, He Y, Bradshaw TY, Blaumeiser B, Winship WS, Reardon W, Maher ER, Fitzpatrick DR, Wuyts W, Zenker M, Lamarche-Vane N, Trembath RC (maj 2011). "Gain-of-Function Mutations of ARHGAP31, a Cdc42/Rac1 GTPase Regulator, Cause Syndromic Cutis Aplasia and Limb Anomalies". Am. J. Hum. Genet. 88 (5): 574–85. doi:10.1016/j.ajhg.2011.04.013. PMC 3146732. PMID 21565291.

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