• Gene id: 395

Gene Summary

• Gene Symbol: ARHGAP6   Gene   UCSC   Ensembl
• Aliases: RHOGAP6, RHOGAPX-1
• Gene name: Rho GTPase activating protein 6
• Alternate names: rho GTPase-activating protein 6, Rho-type GTPase-activating protein RhoGAPX-1, rho-type GTPase-activating protein 6,
• Gene location: Xp22.2 (11665919: 11137543)     Exons: 17     NC_000023.11
• Gene summary(Entrez): This gene encodes a member of the rhoGAP family of proteins which play a role in the regulation of actin polymerization at the plasma membrane during several cellular processes. This protein is thought to have two independent functions, one as a GTPase-ac
• OMIM: 300118

SNPs

rs11769380

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.6002891C>T
NC_000007.13   g.6042522C>T
NG_008466.1   g.11216G>A|SEQ=[C/T]|GENE=PMS2

rs10244329

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.128248636A>T
NC_000007.13   g.127888689A>T
NG_007450.1   g.12359A>T|SEQ=[A/T]|GENE=LEP

rs1059060

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.5977709T>A
NC_000007.14   g.5977709T>C
NC_000007.13   g.6017340T>A
NC_000007.13   g.6017340T>C
NG_008466.1   g.36398A>T
NG_008466.1   g.36398A>G
NM_000535.7   c.2324A>T
NM_000535.7   c.2324A>G
NM_000535.6   c.2324A>T
NM_000535.6   c.2324A>G
NM_000535.5  

Protein Summary

• Protein general information: O43182  
  • Name: Rho GTPase activating protein 6 (Rho type GTPase activating protein 6) (Rho type GTPase activating protein RhoGAPX 1)
  • Length: 974  
  • Mass: 105947
  • Tissue specificity: Highly expressed in kidney, heart and skeletal muscle followed by retina, lymphoblast, placenta, lung, brain, pancreas and liver.
• Sequence:

  MSAQSLLHSVFSCSSPASSSAASAKGFSKRKLRQTRSLDPALIGGCGSDEAGAEGSARGATAGRLYSPSLPAESL
  GPRLASSSRGPPPRATRLPPPGPLCSSFSTPSTPQEKSPSGSFHFDYEVPLGRGGLKKSMAWDLPSVLAGPASSR
  SASSILCSSGGGPNGIFASPRRWLQQRKFQSPPDSRGHPYVVWKSEGDFTWNSMSGRSVRLRSVPIQSLSELERA
  RLQEVAFYQLQQDCDLSCQITIPKDGQKRKKSLRKKLDSLGKEKNKDKEFIPQAFGMPLSQVIANDRAYKLKQDL
  QRDEQKDASDFVASLLPFGNKRQNKELSSSNSSLSSTSETPNESTSPNTPEPAPRARRRGAMSVDSITDLDDNQS
  RLLEALQLSLPAEAQSKKEKARDKKLSLNPIYRQVPRLVDSCCQHLEKHGLQTVGIFRVGSSKKRVRQLREEFDR
  GIDVSLEEEHSVHDVAALLKEFLRDMPDPLLTRELYTAFINTLLLEPEEQLGTLQLLIYLLPPCNCDTLHRLLQF
  LSIVARHADDNISKDGQEVTGNKMTSLNLATIFGPNLLHKQKSSDKEFSVQSSARAEESTAIIAVVQKMIENYEA
  LFMVPPDLQNEVLISLLETDPDVVDYLLRRKASQSSSPDMLQSEVSFSVGGRHSSTDSNKASSGDISPYDNNSPV
  LSERSLLAMQEDAAPGGSEKLYRVPGQFMLVGHLSSSKSRESSPGPRLGKDLSEEPFDIWGTWHSTLKSGSKDPG
  MTGSSGDIFESSSLRAGPCSLSQGNLSPNWPRWQGSPAELDSDTQGARRTQAAAPATEGRAHPAVSRACSTPHVQ
  VAGKAERPTARSEQYLTLSGAHDLSESELDVAGLQSRATPQCQRPHGSGRDDKRPPPPYPGPGKPAAAAAWIQGP
  PEGVETPTDQGGQAAEREQQVTQKKLSSANSLPAGEQDSPRLGDAGWLDWQRERWQIWELLSTDNPDALPETLV

• Structural information:
  • Protein Domains: (401..60-)
    (/note="Rho-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00172"-)
  • Interpro: IPR041852  IPR008936  IPR030772  IPR037863  IPR000198  
  • Prosite: PS50238
  • CDD: cd04376
  • STRING: ENSP00000338967
• Other Databases: GeneCards:  ARHGAP6  Malacards:  ARHGAP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016004	phospholipase activator activity	IBA	molecular function
GO:0007202	activation of phospholipase C activity	IBA	biological process
GO:0043274	phospholipase binding	IBA	molecular function
GO:0007015	actin filament organization	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0017124	SH3 domain binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0007266	Rho protein signal transduction	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0007015	actin filament organization	IEA	biological process
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0048041	focal adhesion assembly	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0015629	actin cytoskeleton	ISS	cellular component
GO:0051895	negative regulation of focal adhesion assembly	IMP	biological process
GO:0005737	cytoplasm	IMP	cellular component
GO:0051497	negative regulation of stress fiber assembly	IMP	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0007266	Rho protein signal transduction	NAS	biological process
GO:0005884	actin filament	NAS	cellular component
GO:0030041	actin filament polymerization	NAS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R