• Gene id: 7984

Gene Summary

• Gene Symbol: ARHGEF5   Gene   UCSC   Ensembl
• Aliases: GEF5, P60, TIM, TIM1
• Gene name: Rho guanine nucleotide exchange factor 5
• Alternate names: rho guanine nucleotide exchange factor 5, Rho guanine nucleotide exchange factor (GEF) 5, ephexin-3, ephexin3, guanine nucleotide regulatory protein TIM, oncogene TIM, p60 TIM, transforming immortalized mammary oncogene,
• Gene location: 7q35 (144355395: 144380631)     Exons: 15     NC_000007.14
• Gene summary(Entrez): Rho GTPases play a fundamental role in numerous cellular processes initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein m
• OMIM: 600888

SNPs

rs11857513

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

NC_000015.10   g.50497226G>A
NC_000015.10   g.50497226G>C
NC_000015.9   g.50789423G>A
NC_000015.9   g.50789423G>C
NG_047101.1   g.77850G>A
NG_047101.1   g.77850G>C
NM_001128610.2   c.3033G>A
NM_001128610.2   c.3033G>C
NM_001128610.3   c.3033G>A
NM_001128610.3   c.3033G>

Protein Summary

• Protein general information: Q12774  
  • Name: Rho guanine nucleotide exchange factor 5 (Ephexin 3) (Guanine nucleotide regulatory protein TIM) (Oncogene TIM) (Transforming immortalized mammary oncogene) (p60 TIM)
  • Length: 1597  
  • Mass: 176799
  • Tissue specificity: Ubiquitously expressed with highest levels in placenta. High levels are also found in colon, kidney, trachea, prostate, liver, pancreas, pituitary gland, thyroid gland and mammary gland. In fetal tissues, expressed at high levels in ki
• Sequence:

  MEAEEAQRGASPPISAIEEFSIIPEAPMRSSQVSALGLEAQEDEDPSYKWREEHRLSATQQSELRDVCDYAIETM
  PSFPKEGSADVEPNQESLVAEACDTPEHWEAVPQSLAGRQARTLAPPELWACPIQSEHLDMAPFSSDLGSEEEEV
  EFWPGLTSLTLGSGQAEEEEETSSDNSGQTRYYSPCEEHPAETNQNEGSESGTIRQGEELPPEELQESQGLLHPQ
  EVQVLEEQGQQEAGFRGEGTLREDVCADGLLGEEQMIEQVNDEKGEQKQKQEQVQDVMLGRQGERMGLTGEPEGL
  NDGEWEQEDMERKAQGQGGPEQGEERKRELQVPEENRADSQDEKSQTFLGKSEEVTGKQEDHGIKEKGVPVSGQE
  AKEPESWDGGRLGAVGRARSREEENEHHGPSMPALIAPEDSPHCDLFPGASYLMTQIPGTQTESRAEELSPAALS
  PSLEPIRCSHQPISLLGSFLTEESPDKEIDQNSQQEESRLRKGTVSSQGTEVVFASASVTPPRTPDSAPPSPAEA
  YPITPASVSARPPVAFPRRETSCAARAPETASAPLSMDDPSPCGTSEMCPAALYGFPSTGTSPPRPPANSTGTVQ
  HLRSDSFPGSHRTEQTPDLVGMLLSYSHSELPQRPPKPAIYSSVTPRRDRRSGRDYSTVSASPTALSTLKQDSQE
  SISNLERPSSPPSIQPWVSPHNPAFATESPAYGSSPSFVSMEDVRIHEPLPPPPPQRRDTHPSVVETDGHARVVV
  PTLKQHSHPPPLALGSGLHAPHKGPLPQASDPAVARQHRPLPSTPDSSHHAQATPRWRYNKPLPPTPDLPQPHLP
  PISAPGSSRIYRPLPPLPIIDPPTEPPPLPPKSRGRSRSTRGGHMNSGGHAKTRPACQDWTVPLPASAGRTSWPP
  ATARSTESFTSTSRSKSEVSPGMAFSNMTNFLCPSSPTTPWTPELQGPTSKDEAGVSEHPEAPAREPLRRTTPQQ
  GASGPGRSPVGQARQPEKPSHLHLEKASSWPHRRDSGRPPGDSSGQAVAPSEGANKHKGWSRQGLRRPSILPEGS
  SDSRGPAVEKHPGPSDTVVFREKKPKEVMGGFSRRCSKLINSSQLLYQEYSDVVLNKEIQSQQRLESLSETPGPS
  SPRQPRKALVSSESYLQRLSMASSGSLWQEIPVVRNSTVLLSMTHEDQKLQEVKFELIVSEASYLRSLNIAVDHF
  QLSTSLRATLSNQEHQWLFSRLQDVRDVSATFLSDLEENFENNIFSFQVCDVVLNHAPDFRRVYLPYVTNQTYQE
  RTFQSLMNSNSNFREVLEKLESDPVCQRLSLKSFLILPFQRITRLKLLLQNILKRTQPGSSEEAEATKAHHALEQ
  LIRDCNNNVQSMRRTEELIYLSQKIEFECKIFPLISQSRWLVKSGELTALEFSASPGLRRKLNTRPVHLHLFNDC
  LLLSRPREGSRFLVFDHAPFSSIRGEKCEMKLHGPHKNLFRLFLRQNTQGAQAEFLFRTETQSEKLRWISALAMP
  REELDLLECYNSPQVQCLRAYKPRENDELALEKADVVMVTQQSSDGWLEGVRLSDGERGWFPVQQVEFISNPEVR
  AQNLKEAHRVKTAKLQLVEQQA

• Structural information:
  • Protein Domains: (1174..135-)
    (/note="DH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00062-)
    (1390..150-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145-)
    (1510..157-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192"-)
  • Interpro: IPR029212  IPR035899  IPR000219  IPR001331  IPR011993   IPR001849  IPR036028  IPR001452  
  • Prosite: PS00741 PS50010 PS50003 PS50002
  • CDD: cd00160
  • STRING: ENSP00000056217
• Other Databases: GeneCards:  ARHGEF5  Malacards:  ARHGEF5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0005737	cytoplasm	IBA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005089	Rho guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0008289	lipid binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005525	GTP binding	TAS	molecular function
GO:0043087	regulation of GTPase activity	IDA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0043065	positive regulation of apoptotic process	TAS	biological process
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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0030036	actin cytoskeleton organization	IEA	biological process
GO:0071803	positive regulation of podosome assembly	IEA	biological process
GO:0002408	myeloid dendritic cell chemotaxis	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0002102	podosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0071944	cell periphery	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0043507	positive regulation of JUN kinase activity	IDA	biological process
GO:0051091	positive regulation of DNA-binding transcription factor activity	IDA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0070372	regulation of ERK1 and ERK2 cascade	IDA	NOT|biological process
GO:1904591	positive regulation of protein import	IMP	biological process
GO:0032956	regulation of actin cytoskeleton organization	IMP	biological process
GO:0051496	positive regulation of stress fiber assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0051493	regulation of cytoskeleton organization	IMP	biological process

Diseases

Associated diseases	References
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)