• Gene id: 10146

Gene Summary

• Gene Symbol: G3BP1   Gene   UCSC   Ensembl
• Aliases: G3BP, HDH-VIII
• Gene name: G3BP stress granule assembly factor 1
• Alternate names: ras GTPase-activating protein-binding protein 1, ATP-dependent DNA helicase VIII, DNA helicase VIII, G3BP-1, GAP SH3 domain-binding protein 1, GAP binding protein, GTPase activating protein (SH3 domain) binding protein 1, Ras-GTPase-activating protein SH3-domain,
• Gene location: 5q33.1 (61177417: 61188924)     Exons: 9     NC_000002.12
• Gene summary(Entrez): This gene encodes one of the DNA-unwinding enzymes which prefers partially unwound 3'-tailed substrates and can also unwind partial RNA/DNA and RNA/RNA duplexes in an ATP-dependent fashion. This enzyme is a member of the heterogeneous nuclear RNA-binding
• OMIM: 608431

Protein Summary

• Protein general information: Q13283  
  • Name: Ras GTPase activating protein binding protein 1 (G3BP 1) (EC 3.6.4.12) (EC 3.6.4.13) (ATP dependent DNA helicase VIII) (hDH VIII) (GAP SH3 domain binding protein 1)
  • Length: 466  
  • Mass: 52164
  • Tissue specificity: Ubiquitous.
• Sequence:

  MVMEKPSPLLVGREFVRQYYTLLNQAPDMLHRFYGKNSSYVHGGLDSNGKPADAVYGQKEIHRKVMSQNFTNCHT
  KIRHVDAHATLNDGVVVQVMGLLSNNNQALRRFMQTFVLAPEGSVANKFYVHNDIFRYQDEVFGGFVTEPQEESE
  EEVEEPEERQQTPEVVPDDSGTFYDQAVVSNDMEEHLEEPVAEPEPDPEPEPEQEPVSEIQEEKPEPVLEETAPE
  DAQKSSSPAPADIAQTVQEDLRTFSWASVTSKNLPPSGAVPVTGIPPHVVKVPASQPRPESKPESQIPPQRPQRD
  QRVREQRINIPPQRGPRPIREAGEQGDIEPRRMVRHPDSHQLFIGNLPHEVDKSELKDFFQSYGNVVELRINSGG
  KLPNFGFVVFDDSEPVQKVLSNRPIMFRGEVRLNVEEKKTRAAREGDRRDNRLRGPGGPRGGLGGGMRGPPRGGM
  VQKPGFGVGRGLAPRQ

• Structural information:
  • Protein Domains: (11..13-)
    (/note="NTF2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00137-)
    (340..41-)
    (/note="RRM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00176"-)
  • Interpro: IPR034375  IPR034374  IPR002075  IPR032710  IPR018222   IPR039539  IPR035979  IPR000504  
  • Prosite: PS50177 PS50102
  • CDD: cd00780 cd12463
  • PDB: 3Q90 4FCJ 4FCM 4IIA 5FW5
  • PDBsum: 3Q90 4FCJ 4FCM 4IIA 5FW5
  • STRING: ENSP00000377681
• Other Databases: GeneCards:  G3BP1  Malacards:  G3BP1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0010494	cytoplasmic stress granule	ISS	cellular component
GO:0003729	mRNA binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:1990904	ribonucleoprotein complex	IBA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0010494	cytoplasmic stress granule	IDA	cellular component
GO:0032606	type I interferon production	IDA	biological process
GO:0051607	defense response to virus	IMP	biological process
GO:0062029	positive regulation of stress granule assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032606	type I interferon production	IMP	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:0003676	nucleic acid binding	IEA	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0004386	helicase activity	IEA	molecular function
GO:0004519	endonuclease activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0004518	nuclease activity	IEA	molecular function
GO:0002376	immune system process	IEA	biological process
GO:0045087	innate immune response	IEA	biological process
GO:0003723	RNA binding	IEA	molecular function
GO:0016032	viral process	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003724	RNA helicase activity	TAS	molecular function
GO:0003678	DNA helicase activity	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0007265	Ras protein signal transduction	TAS	biological process
GO:0003678	DNA helicase activity	IEA	molecular function
GO:0003724	RNA helicase activity	IEA	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:0010494	cytoplasmic stress granule	IEA	cellular component
GO:0003729	mRNA binding	IEA	molecular function
GO:0090090	negative regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0010494	cytoplasmic stress granule	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0090305	nucleic acid phosphodiester bond hydrolysis	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0032508	DNA duplex unwinding	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0034063	stress granule assembly	IMP	biological process
GO:0034063	stress granule assembly	IMP	biological process
GO:0003723	RNA binding	HDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005925	focal adhesion	HDA	cellular component

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			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R