Rho GTPase-activating protein 6 - Homo sapiens (Human)

Preferred order of sections

Names and origin

Protein names

Recommended name:
Rho GTPase-activating protein 6

Alternative name(s):
Rho-type GTPase-activating protein 6
Rho-type GTPase-activating protein RhoGAPX-1

Gene names

Name:	ARHGAP6
Synonyms:	RHOGAP6

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	974 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. Could regulate the interactions of signaling molecules with the actin cytoskeleton. Promotes continuous elongation of cytoplasmic processes during cell motility and simultaneous retraction of the cell body changing the cell morphology. Ref.1
Subcellular location	Cytoplasm Ref.1.
Tissue specificity	Highly expressed in kidney, heart and skeletal muscle followed by retina, lymphoblast, placenta, lung, brain, pancreas and liver.
Miscellaneous	ARHGAP6 gene undergoes X inactivation.
Sequence similarities	Contains 1 Rho-GAP domain.

Ontologies

Keywords
Cellular component	Cytoplasm
Coding sequence diversity	Alternative splicing Polymorphism
Domain	SH3-binding
Molecular function	GTPase activation
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	Rho protein signal transduction Non-traceable author statement Ref.1. Source: UniProtKB actin filament polymerization Non-traceable author statement Ref.1. Source: UniProtKB activation of phospholipase C activity Inferred from direct assay. Source: BHF-UCL negative regulation of focal adhesion assembly Inferred from mutant phenotype Ref.1. Source: BHF-UCL negative regulation of stress fiber assembly Inferred from mutant phenotype Ref.1. Source: BHF-UCL
Cellular component	actin filament Non-traceable author statement Ref.1. Source: UniProtKB cytosol Traceable author statement. Source: Reactome
Molecular function	Rho GTPase activator activity Inferred from sequence or structural similarity Ref.1. Source: BHF-UCL SH3 domain binding Inferred from electronic annotation. Source: UniProtKB-KW SH3/SH2 adaptor activity Traceable author statement. Source: ProtInc phospholipase activator activity Inferred from direct assay. Source: BHF-UCL phospholipase binding Inferred from physical interaction. Source: BHF-UCL
Complete GO annotation...

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]

Isoform 3 (identifier: O43182-1) This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Isoform 1 (identifier: O43182-2) The sequence of this isoform differs from the canonical sequence as follows: 726-765: DLSEEPFDIW...GDIFESSSLR → GNWSLASRRW...SSSLPYLMFL 766-974: Missing.

Isoform 2 (identifier: O43182-3) The sequence of this isoform differs from the canonical sequence as follows: 196-196: E → ELELYDLQILGTKPPMNSDTHRNFDPTATLRNQ 637-658: SPDMLQSEVSFSVGGRHSSTDS → TSSVLPAAVQACPQYPASMFTP 659-974: Missing.

Isoform 4 (identifier: O43182-4) The sequence of this isoform differs from the canonical sequence as follows: 1-203: Missing.

Isoform 5 (identifier: O43182-5) The sequence of this isoform differs from the canonical sequence as follows: 1-203: Missing. 726-765: DLSEEPFDIW...GDIFESSSLR → GNWSLASRRW...SSSLPYLMFL 766-974: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 974

974

Rho GTPase-activating protein 6

PRO_0000056704

Regions

Domain

401 – 602

202

Rho-GAP

Motif

342 – 352

11

SH3-binding

Amino acid modifications

Modified residue

264

1

Phosphoserine Ref.4

Modified residue

663

1

Phosphoserine Ref.4

Modified residue

673

1

Phosphoserine Ref.4

Modified residue

754

1

Phosphoserine Ref.4

Modified residue

777

1

Phosphoserine Ref.4

Modified residue

928

1

Phosphoserine Ref.4

Modified residue

939

1

Phosphoserine Ref.4

Natural variations

Alternative sequence

1 – 203

203

Missing in isoform 4 and isoform 5.

VSP_001637

Alternative sequence

196

1

E → ELELYDLQILGTKPPMNSDT HRNFDPTATLRNQ in isoform 2.

VSP_001638

Alternative sequence

637 – 658

22

SPDML…SSTDS → TSSVLPAAVQACPQYPASMF TP in isoform 2.

VSP_001639

Alternative sequence

659 – 974

316

Missing in isoform 2.

VSP_001640

Alternative sequence

726 – 765

40

DLSEE…SSSLR → GNWSLASRRWPKQATLLLLH VAWCGALRTFSSSLPYLMFL in isoform 1 and isoform 5.

VSP_001641

Alternative sequence

766 – 974

209

Missing in isoform 1 and isoform 5.

VSP_001642

Natural variant

791

1

D → E. Ref.3
Corresponds to variant rs1009758 [ dbSNP | Ensembl ].

VAR_024453

Experimental info

Sequence conflict

231

1

A → P in AAF43261. Ref.1

Sequence conflict

231

1

A → P in AAD55087. Ref.1

Sequence conflict

231

1

A → P in AAC98539. Ref.2

Sequence conflict

231

1

A → P in AAC98540. Ref.2

Sequences

Sequence		Length	Mass (Da)
Isoform 3 [UniParc]. Last modified October 3, 2006. Version 3. Checksum: BEE22EB54F019E30 Show »	FASTA	974	105,947
10 20 30 40 50 60 MSAQSLLHSV FSCSSPASSS AASAKGFSKR KLRQTRSLDP ALIGGCGSDE AGAEGSARGA 70 80 90 100 110 120 TAGRLYSPSL PAESLGPRLA SSSRGPPPRA TRLPPPGPLC SSFSTPSTPQ EKSPSGSFHF 130 140 150 160 170 180 DYEVPLGRGG LKKSMAWDLP SVLAGPASSR SASSILCSSG GGPNGIFASP RRWLQQRKFQ 190 200 210 220 230 240 SPPDSRGHPY VVWKSEGDFT WNSMSGRSVR LRSVPIQSLS ELERARLQEV AFYQLQQDCD 250 260 270 280 290 300 LSCQITIPKD GQKRKKSLRK KLDSLGKEKN KDKEFIPQAF GMPLSQVIAN DRAYKLKQDL 310 320 330 340 350 360 QRDEQKDASD FVASLLPFGN KRQNKELSSS NSSLSSTSET PNESTSPNTP EPAPRARRRG 370 380 390 400 410 420 AMSVDSITDL DDNQSRLLEA LQLSLPAEAQ SKKEKARDKK LSLNPIYRQV PRLVDSCCQH 430 440 450 460 470 480 LEKHGLQTVG IFRVGSSKKR VRQLREEFDR GIDVSLEEEH SVHDVAALLK EFLRDMPDPL 490 500 510 520 530 540 LTRELYTAFI NTLLLEPEEQ LGTLQLLIYL LPPCNCDTLH RLLQFLSIVA RHADDNISKD 550 560 570 580 590 600 GQEVTGNKMT SLNLATIFGP NLLHKQKSSD KEFSVQSSAR AEESTAIIAV VQKMIENYEA 610 620 630 640 650 660 LFMVPPDLQN EVLISLLETD PDVVDYLLRR KASQSSSPDM LQSEVSFSVG GRHSSTDSNK 670 680 690 700 710 720 ASSGDISPYD NNSPVLSERS LLAMQEDAAP GGSEKLYRVP GQFMLVGHLS SSKSRESSPG 730 740 750 760 770 780 PRLGKDLSEE PFDIWGTWHS TLKSGSKDPG MTGSSGDIFE SSSLRAGPCS LSQGNLSPNW 790 800 810 820 830 840 PRWQGSPAEL DSDTQGARRT QAAAPATEGR AHPAVSRACS TPHVQVAGKA ERPTARSEQY 850 860 870 880 890 900 LTLSGAHDLS ESELDVAGLQ SRATPQCQRP HGSGRDDKRP PPPYPGPGKP AAAAAWIQGP 910 920 930 940 950 960 PEGVETPTDQ GGQAAEREQQ VTQKKLSSAN SLPAGEQDSP RLGDAGWLDW QRERWQIWEL 970 LSTDNPDALP ETLV « Hide
Isoform 1 [UniParc]. Checksum: 992B50A957E7019E Show »	FASTA	765	83,926
10 20 30 40 50 60 MSAQSLLHSV FSCSSPASSS AASAKGFSKR KLRQTRSLDP ALIGGCGSDE AGAEGSARGA 70 80 90 100 110 120 TAGRLYSPSL PAESLGPRLA SSSRGPPPRA TRLPPPGPLC SSFSTPSTPQ EKSPSGSFHF 130 140 150 160 170 180 DYEVPLGRGG LKKSMAWDLP SVLAGPASSR SASSILCSSG GGPNGIFASP RRWLQQRKFQ 190 200 210 220 230 240 SPPDSRGHPY VVWKSEGDFT WNSMSGRSVR LRSVPIQSLS ELERARLQEV AFYQLQQDCD 250 260 270 280 290 300 LSCQITIPKD GQKRKKSLRK KLDSLGKEKN KDKEFIPQAF GMPLSQVIAN DRAYKLKQDL 310 320 330 340 350 360 QRDEQKDASD FVASLLPFGN KRQNKELSSS NSSLSSTSET PNESTSPNTP EPAPRARRRG 370 380 390 400 410 420 AMSVDSITDL DDNQSRLLEA LQLSLPAEAQ SKKEKARDKK LSLNPIYRQV PRLVDSCCQH 430 440 450 460 470 480 LEKHGLQTVG IFRVGSSKKR VRQLREEFDR GIDVSLEEEH SVHDVAALLK EFLRDMPDPL 490 500 510 520 530 540 LTRELYTAFI NTLLLEPEEQ LGTLQLLIYL LPPCNCDTLH RLLQFLSIVA RHADDNISKD 550 560 570 580 590 600 GQEVTGNKMT SLNLATIFGP NLLHKQKSSD KEFSVQSSAR AEESTAIIAV VQKMIENYEA 610 620 630 640 650 660 LFMVPPDLQN EVLISLLETD PDVVDYLLRR KASQSSSPDM LQSEVSFSVG GRHSSTDSNK 670 680 690 700 710 720 ASSGDISPYD NNSPVLSERS LLAMQEDAAP GGSEKLYRVP GQFMLVGHLS SSKSRESSPG 730 740 750 760 PRLGKGNWSL ASRRWPKQAT LLLLHVAWCG ALRTFSSSLP YLMFL « Hide
Isoform 2 [UniParc]. Checksum: EE1801C208E48DB9 Show »	FASTA	690	75,918
10 20 30 40 50 60 MSAQSLLHSV FSCSSPASSS AASAKGFSKR KLRQTRSLDP ALIGGCGSDE AGAEGSARGA 70 80 90 100 110 120 TAGRLYSPSL PAESLGPRLA SSSRGPPPRA TRLPPPGPLC SSFSTPSTPQ EKSPSGSFHF 130 140 150 160 170 180 DYEVPLGRGG LKKSMAWDLP SVLAGPASSR SASSILCSSG GGPNGIFASP RRWLQQRKFQ 190 200 210 220 230 240 SPPDSRGHPY VVWKSELELY DLQILGTKPP MNSDTHRNFD PTATLRNQGD FTWNSMSGRS 250 260 270 280 290 300 VRLRSVPIQS LSELERARLQ EVAFYQLQQD CDLSCQITIP KDGQKRKKSL RKKLDSLGKE 310 320 330 340 350 360 KNKDKEFIPQ AFGMPLSQVI ANDRAYKLKQ DLQRDEQKDA SDFVASLLPF GNKRQNKELS 370 380 390 400 410 420 SSNSSLSSTS ETPNESTSPN TPEPAPRARR RGAMSVDSIT DLDDNQSRLL EALQLSLPAE 430 440 450 460 470 480 AQSKKEKARD KKLSLNPIYR QVPRLVDSCC QHLEKHGLQT VGIFRVGSSK KRVRQLREEF 490 500 510 520 530 540 DRGIDVSLEE EHSVHDVAAL LKEFLRDMPD PLLTRELYTA FINTLLLEPE EQLGTLQLLI 550 560 570 580 590 600 YLLPPCNCDT LHRLLQFLSI VARHADDNIS KDGQEVTGNK MTSLNLATIF GPNLLHKQKS 610 620 630 640 650 660 SDKEFSVQSS ARAEESTAII AVVQKMIENY EALFMVPPDL QNEVLISLLE TDPDVVDYLL 670 680 690 RRKASQSSTS SVLPAAVQAC PQYPASMFTP « Hide
Isoform 4 [UniParc]. Checksum: A7CAEADB29590AAF Show »	FASTA	771	84,844
10 20 30 40 50 60 MSGRSVRLRS VPIQSLSELE RARLQEVAFY QLQQDCDLSC QITIPKDGQK RKKSLRKKLD 70 80 90 100 110 120 SLGKEKNKDK EFIPQAFGMP LSQVIANDRA YKLKQDLQRD EQKDASDFVA SLLPFGNKRQ 130 140 150 160 170 180 NKELSSSNSS LSSTSETPNE STSPNTPEPA PRARRRGAMS VDSITDLDDN QSRLLEALQL 190 200 210 220 230 240 SLPAEAQSKK EKARDKKLSL NPIYRQVPRL VDSCCQHLEK HGLQTVGIFR VGSSKKRVRQ 250 260 270 280 290 300 LREEFDRGID VSLEEEHSVH DVAALLKEFL RDMPDPLLTR ELYTAFINTL LLEPEEQLGT 310 320 330 340 350 360 LQLLIYLLPP CNCDTLHRLL QFLSIVARHA DDNISKDGQE VTGNKMTSLN LATIFGPNLL 370 380 390 400 410 420 HKQKSSDKEF SVQSSARAEE STAIIAVVQK MIENYEALFM VPPDLQNEVL ISLLETDPDV 430 440 450 460 470 480 VDYLLRRKAS QSSSPDMLQS EVSFSVGGRH SSTDSNKASS GDISPYDNNS PVLSERSLLA 490 500 510 520 530 540 MQEDAAPGGS EKLYRVPGQF MLVGHLSSSK SRESSPGPRL GKDLSEEPFD IWGTWHSTLK 550 560 570 580 590 600 SGSKDPGMTG SSGDIFESSS LRAGPCSLSQ GNLSPNWPRW QGSPAELDSD TQGARRTQAA 610 620 630 640 650 660 APATEGRAHP AVSRACSTPH VQVAGKAERP TARSEQYLTL SGAHDLSESE LDVAGLQSRA 670 680 690 700 710 720 TPQCQRPHGS GRDDKRPPPP YPGPGKPAAA AAWIQGPPEG VETPTDQGGQ AAEREQQVTQ 730 740 750 760 770 KKLSSANSLP AGEQDSPRLG DAGWLDWQRE RWQIWELLST DNPDALPETL V « Hide
Isoform 5 [UniParc]. Checksum: 96707FB1D7CBFC62 Show »	FASTA	562	62,822
10 20 30 40 50 60 MSGRSVRLRS VPIQSLSELE RARLQEVAFY QLQQDCDLSC QITIPKDGQK RKKSLRKKLD 70 80 90 100 110 120 SLGKEKNKDK EFIPQAFGMP LSQVIANDRA YKLKQDLQRD EQKDASDFVA SLLPFGNKRQ 130 140 150 160 170 180 NKELSSSNSS LSSTSETPNE STSPNTPEPA PRARRRGAMS VDSITDLDDN QSRLLEALQL 190 200 210 220 230 240 SLPAEAQSKK EKARDKKLSL NPIYRQVPRL VDSCCQHLEK HGLQTVGIFR VGSSKKRVRQ 250 260 270 280 290 300 LREEFDRGID VSLEEEHSVH DVAALLKEFL RDMPDPLLTR ELYTAFINTL LLEPEEQLGT 310 320 330 340 350 360 LQLLIYLLPP CNCDTLHRLL QFLSIVARHA DDNISKDGQE VTGNKMTSLN LATIFGPNLL 370 380 390 400 410 420 HKQKSSDKEF SVQSSARAEE STAIIAVVQK MIENYEALFM VPPDLQNEVL ISLLETDPDV 430 440 450 460 470 480 VDYLLRRKAS QSSSPDMLQS EVSFSVGGRH SSTDSNKASS GDISPYDNNS PVLSERSLLA 490 500 510 520 530 540 MQEDAAPGGS EKLYRVPGQF MLVGHLSSSK SRESSPGPRL GKGNWSLASR RWPKQATLLL 550 560 LHVAWCGALR TFSSSLPYLM FL « Hide

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Functional analysis of ARHGAP6, a novel GTPase-activating protein for RhoA." Prakash S.K., Paylor R., Jenna S., Lamarche-Vane N., Armstrong D.L., Xu B., Mancini M.A., Zoghbi H.Y. Hum. Mol. Genet. 9:477-488(2000) [PubMed: 10699171] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3; 4 AND 5), SEQUENCE REVISION, FUNCTION, SUBCELLULAR LOCATION, ALTERNATIVE SPLICING. Tissue: Fetal kidney.
[2]	"Cloning and characterization of a novel rho-type GTPase-activating protein gene (ARHGAP6) from the critical region for microphthalmia with linear skin defects." Schaefer L., Prakash S.K., Zoghbi H.Y. Genomics 46:268-277(1997) [PubMed: 9417914] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), VARIANT GLU-791.
[4]	"Phosphoproteome of resting human platelets." Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J., Schuetz C., Walter U., Gambaryan S., Sickmann A. J. Proteome Res. 7:526-534(2008) [PubMed: 18088087] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-264; SER-663; SER-673; SER-754; SER-777; SER-928 AND SER-939, MASS SPECTROMETRY. Tissue: Platelet.
[5]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed: 21269460] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
+	Additional computationally mapped references.

Cross-references

Sequence databases
EMBL GenBank DDBJ	AF117067 mRNA. Translation: AAF43261.1. AF177663 mRNA. Translation: AAD53166.1. AF177665 mRNA. Translation: AAD55087.1. AF012272 mRNA. Translation: AAC98539.2. AF022212 mRNA. Translation: AAC98540.2. BC150635 mRNA. Translation: AAI50636.1.
IPI	IPI00011219. IPI00221121. IPI00221122. IPI00221123. IPI00872679.
PIR	E59434.
RefSeq	NP_006116.2. NM_006125.2. NP_038267.1. NM_013423.2. NP_038286.2. NM_013427.2.
UniGene	Hs.435291.
3D structure databases
ProteinModelPortal	O43182.
SMR	O43182. Positions 409-596.
ModBase	Search...
Protein-protein interaction databases
STRING	O43182.
PTM databases
PhosphoSite	O43182.
Proteomic databases
PRIDE	O43182.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000337414; ENSP00000338967; ENSG00000047648.
GeneID	395.
KEGG	hsa:395.
UCSC	uc004cum.1. human. uc004cup.1. human. uc004cur.1. human. uc010neb.1. human.
Organism-specific databases
CTD	395.
GeneCards	GC0XM011155.
HGNC	HGNC:676. ARHGAP6.
HPA	HPA036779.
MIM	300118. gene.
neXtProt	NX_O43182.
PharmGKB	PA24960.
GenAtlas	Search...
Phylogenomic databases
eggNOG	prNOG09673.
GeneTree	ENSGT00600000084127.
HOGENOM	HBG715026.
HOVERGEN	HBG067762.
InParanoid	O43182.
PhylomeDB	O43182.
Enzyme and pathway databases
Reactome	REACT_111102. Signal Transduction.
Gene expression databases
ArrayExpress	O43182.
Bgee	O43182.
CleanEx	HS_ARHGAP6.
Genevestigator	O43182.
GermOnline	ENSG00000047648. Homo sapiens.
Family and domain databases
InterPro	IPR008936. Rho_GTPase_activation_prot. IPR000198. RhoGAP_dom. [Graphical view]
Gene3D	G3DSA:1.10.555.10. RhoGAP. 2 hits.
Pfam	PF00620. RhoGAP. 1 hit. [Graphical view]
SMART	SM00324. RhoGAP. 1 hit. [Graphical view]
SUPFAM	SSF48350. Rho_GAP. 1 hit.
PROSITE	PS50238. RHOGAP. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	1649.
SOURCE	Search...

Entry information

Entry name

RHG06_HUMAN

Accession

Primary (citable) accession number: O43182
Secondary accession number(s): B2RWQ0

Q9UK82

Entry history

Integrated into UniProtKB/Swiss-Prot:	July 15, 1999
Last sequence update:	October 3, 2006
Last modified:	January 25, 2012
This is version 113 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

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Human chromosome X: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Preferred order of sections

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Alternative products

Sequence annotation (Features)

Molecule processing

Regions

Amino acid modifications

Natural variations

Experimental info

Sequences

References

Cross-references

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Gene expression databases

Family and domain databases

Other

Entry information

Relevant documents