• Gene id: 2909

Gene Summary

• Gene Symbol: ARHGAP35   Gene   UCSC   Ensembl
• Aliases: GRF-1, GRLF1, P190-A, P190A, p190ARhoGAP, p190RhoGAP
• Gene name: Rho GTPase activating protein 35
• Alternate names: rho GTPase-activating protein 35, glucocorticoid receptor DNA-binding factor 1, glucocorticoid receptor repression factor 1, rho GAP p190A,
• Gene location: 19q13.32 (46860996: 47005076)     Exons: 9     NC_000019.10
• Gene summary(Entrez): The human glucocorticoid receptor DNA binding factor, which associates with the promoter region of the glucocorticoid receptor gene (hGR gene), is a repressor of glucocorticoid receptor transcription. The amino acid sequence deduced from the cDNA sequence
• OMIM: 605277

SNPs

rs397515395

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000019.10   g.55161685dup
NC_000019.9   g.55673053dup
NG_007866.2   g.1048dup
NG_032759.1   g.10038dup
NM_178837.4   c.762dup
NM_001256715.2   c.621dup
NM_001256715.1   c.621dup
NM_001256716.1   c.459dup
NM_001256714.1   c.825dup
NP_849159.2   p.Val255fs
NP_001243644  

rs387907152

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

NC_000019.10   g.55165427G>A
NC_000019.9   g.55676795G>A
NG_032759.1   g.6296C>T
NM_178837.4   c.406C>T
NM_001256715.2   c.265C>T
NM_001256715.1   c.265C>T
NM_001256716.1   c.103C>T
NM_001256714.1   c.469C>T
NP_849159.2   p.Arg136Ter
NP_001243644.1   p.Arg89Ter
NP_00124  

rs387907151

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

NC_000019.10   g.55165904A>G
NC_000019.9   g.55677272A>G
NG_032759.1   g.5819T>C
NM_178837.4   c.323T>C
NM_001256715.2   c.182T>C
NM_001256715.1   c.182T>C
NM_001256716.1   c.-57T>C
NM_001256714.1   c.386T>C
NP_849159.2   p.Leu108Pro
NP_001243644.1   p.Leu61Pro
NP_00124  

Protein Summary

• Protein general information: Q9NRY4  
  • Name: Rho GTPase activating protein 35 (Glucocorticoid receptor DNA binding factor 1) (Glucocorticoid receptor repression factor 1) (GRF 1) (Rho GAP p190A) (p190 A)
  • Length: 1499  
  • Mass: 170514
  • Tissue specificity: Detected in neutrophils (at protein level). {ECO
• Sequence:

  MMMARKQDVRIPTYNISVVGLSGTEKEKGQCGIGKSCLCNRFVRPSADEFHLDHTSVLSTSDFGGRVVNNDHFLY
  WGEVSRSLEDCVECKMHIVEQTEFIDDQTFQPHRSTALQPYIKRAAATKLASAEKLMYFCTDQLGLEQDFEQKQM
  PDGKLLVDGFLLGIDVSRGMNRNFDDQLKFVSNLYNQLAKTKKPIVVVLTKCDEGVERYIRDAHTFALSKKNLQV
  VETSARSNVNVDLAFSTLVQLIDKSRGKTKIIPYFEALKQQSQQIATAKDKYEWLVSRIVKNHNENWLSVSRKMQ
  ASPEYQDYVYLEGTQKAKKLFLQHIHRLKHEHIERRRKLYLAALPLAFEALIPNLDEIDHLSCIKAKKLLETKPE
  FLKWFVVLEETPWDATSHIDNMENERIPFDLMDTVPAEQLYEAHLEKLRNERKRVEMRRAFKENLETSPFITPGK
  PWEEARSFIMNEDFYQWLEESVYMDIYGKHQKQIIDKAKEEFQELLLEYSELFYELELDAKPSKEKMGVIQDVLG
  EEQRFKALQKLQAERDALILKHIHFVYHPTKETCPSCPACVDAKIEHLISSRFIRPSDRNQKNSLSDPNIDRINL
  VILGKDGLARELANEIRALCTNDDKYVIDGKMYELSLRPIEGNVRLPVNSFQTPTFQPHGCLCLYNSKESLSYVV
  ESIEKSRESTLGRRDNHLVHLPLTLILVNKRGDTSGETLHSLIQQGQQIASKLQCVFLDPASAGIGYGRNINEKQ
  ISQVLKGLLDSKRNLNLVSSTASIKDLADVDLRIVMCLMCGDPFSADDILFPVLQSQTCKSSHCGSNNSVLLELP
  IGLHKKRIELSVLSYHSSFSIRKSRLVHGYIVFYSAKRKASLAMLRAFLCEVQDIIPIQLVALTDGAVDVLDNDL
  SREQLTEGEEIAQEIDGRFTSIPCSQPQHKLEIFHPFFKDVVEKKNIIEATHMYDNAAEACSTTEEVFNSPRAGS
  PLCNSNLQDSEEDIEPSYSLFREDTSLPSLSKDHSKLSMELEGNDGLSFIMSNFESKLNNKVPPPVKPKPPVHFE
  ITKGDLSYLDQGHRDGQRKSVSSSPWLPQDGFDPSDYAEPMDAVVKPRNEEENIYSVPHDSTQGKIITIRNINKA
  QSNGSGNGSDSEMDTSSLERGRKVSIVSKPVLYRTRCTRLGRFASYRTSFSVGSDDELGPIRKKEEDQASQGYKG
  DNAVIPYETDEDPRRRNILRSLRRNTKKPKPKPRPSITKATWESNYFGVPLTTVVTPEKPIPIFIERCIEYIEAT
  GLSTEGIYRVSGNKSEMESLQRQFDQDHNLDLAEKDFTVNTVAGAMKSFFSELPDPLVPYNMQIDLVEAHKINDR
  EQKLHALKEVLKKFPKENHEVFKYVISHLNKVSHNNKVNLMTSENLSICFWPTLMRPDFSTMDALTATRTYQTII
  ELFIQQCPFFFYNRPITEPPGARPSSPSAVASTVPFLTSTPVTSQPSPPQSPPPTPQSPMQPLLPSQLQAEHTL

• Structural information:
  • Protein Domains: (270..32-)
    (/note="FF-1)
    (368..42-)
    (/note="FF-2)
    (429..48-)
    (/note="FF-3)
    (485..55-)
    (/note="FF-4)
    (592..76-)
    (/note="pG1-pseudoGTPase)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01199-)
    (783..94-)
    (/note="pG2-pse)
  • Interpro: IPR002713  IPR036517  IPR027417  IPR039007  IPR008936   IPR032835  IPR000198  IPR039006  IPR001806  
  • Prosite: PS51676 PS51852 PS51853 PS50238
  • PDB: 2K85 3C5H 3FK2
  • PDBsum: 2K85 3C5H 3FK2
  • DIP: 34578
  • STRING: ENSP00000385720
• Other Databases: GeneCards:  ARHGAP35  Malacards:  ARHGAP35

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035024	negative regulation of Rho protein signal transduction	ISS	biological process
GO:0005543	phospholipid binding	IDA	molecular function
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0036064	ciliary basal body	ISS	cellular component
GO:0045724	positive regulation of cilium assembly	ISS	biological process
GO:0008064	regulation of actin polymerization or depolymerization	ISS	biological process
GO:0050770	regulation of axonogenesis	ISS	biological process
GO:0031668	cellular response to extracellular stimulus	ISS	biological process
GO:0044319	wound healing, spreading of cells	ISS	biological process
GO:0016477	cell migration	ISS	biological process
GO:0030879	mammary gland development	ISS	biological process
GO:0097485	neuron projection guidance	ISS	biological process
GO:0021955	central nervous system neuron axonogenesis	ISS	biological process
GO:0010976	positive regulation of neuron projection development	ISS	biological process
GO:0007413	axonal fasciculation	ISS	biological process
GO:0007411	axon guidance	ISS	biological process
GO:0032956	regulation of actin cytoskeleton organization	ISS	biological process
GO:0030950	establishment or maintenance of actin cytoskeleton polarity	ISS	biological process
GO:0003924	GTPase activity	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0007165	signal transduction	IEA	biological process
GO:0008289	lipid binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0005525	GTP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005856	cytoskeleton	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0051056	regulation of small GTPase mediated signal transduction	TAS	biological process
GO:0008064	regulation of actin polymerization or depolymerization	IEA	biological process
GO:0008360	regulation of cell shape	IEA	biological process
GO:0015629	actin cytoskeleton	IEA	cellular component
GO:0016477	cell migration	IEA	biological process
GO:0031668	cellular response to extracellular stimulus	IEA	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0043010	camera-type eye development	IEA	biological process
GO:0043116	negative regulation of vascular permeability	IEA	biological process
GO:0044319	wound healing, spreading of cells	IEA	biological process
GO:0045724	positive regulation of cilium assembly	IEA	biological process
GO:0050770	regulation of axonogenesis	IEA	biological process
GO:0001843	neural tube closure	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0007411	axon guidance	IEA	biological process
GO:0007413	axonal fasciculation	IEA	biological process
GO:0010976	positive regulation of neuron projection development	IEA	biological process
GO:0021955	central nervous system neuron axonogenesis	IEA	biological process
GO:0030879	mammary gland development	IEA	biological process
GO:0030900	forebrain development	IEA	biological process
GO:0030950	establishment or maintenance of actin cytoskeleton polarity	IEA	biological process
GO:0032956	regulation of actin cytoskeleton organization	IEA	biological process
GO:0035024	negative regulation of Rho protein signal transduction	IEA	biological process
GO:0097485	neuron projection guidance	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process

KEGG pathways

Pathway id	Pathway name
hsa04810	Regulation of actin cytoskeleton
hsa04510	Focal adhesion
hsa04611	Platelet activation
hsa04670	Leukocyte transendothelial migration

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R