• Gene id: 22821

Gene Summary

• Gene Symbol: RASA3   Gene   UCSC   Ensembl
• Aliases: GAP1IP4BP, GAPIII
• Gene name: RAS p21 protein activator 3
• Alternate names: ras GTPase-activating protein 3, GTPase activating protein III, GTPase-activating protein 1 family, inositol 1,3,4,5-tetrakisphosphate-binding protein, Ins(1,3,4,5)P4-binding protein, ins P4-binding protein,
• Gene location: 13q34 (114132622: 113977782)     Exons: 29     NC_000013.11
• Gene summary(Entrez): This gene encodes a protein that binds inositol 1,3,4,5-tetrakisphosphate and stimulates the GTPase activity of Ras p21. This protein functions as a negative regulator of the Ras signalling pathway. It is localized to the cell membrane via a pleckstrin ho
• OMIM: 609011

Protein Summary

• Protein general information: Q14644  
  • Name: Ras GTPase activating protein 3 (GAP1(IP4BP)) (Ins P4 binding protein)
  • Length: 834  
  • Mass: 95699
• Sequence:

  MAVEDEGLRVFQSVKIKIGEAKNLPSYPGPSKMRDCYCTVNLDQEEVFRTKIVEKSLCPFYGEDFYCEIPRSFRH
  LSFYIFDRDVFRRDSIIGKVAIQKEDLQKYHNRDTWFQLQHVDADSEVQGKVHLELRLSEVITDTGVVCHKLATR
  IVECQGLPIVNGQCDPYATVTLAGPFRSEAKKTKVKRKTNNPQFDEVFYFEVTRPCSYSKKSHFDFEEEDVDKLE
  IRVDLWNASNLKFGDEFLGELRIPLKVLRQSSSYEAWYFLQPRDNGSKSLKPDDLGSLRLNVVYTEDHVFSSDYY
  SPLRDLLLKSADVEPVSASAAHILGEVCREKQEAAVPLVRLFLHYGRVVPFISAIASAEVKRTQDPNTIFRGNSL
  ASKCIDETMKLAGMHYLHVTLKPAIEEICQSHKPCEIDPVKLKDGENLENNMENLRQYVDRVFHAITESGVSCPT
  VMCDIFFSLREAAAKRFQDDPDVRYTAVSSFIFLRFFAPAILSPNLFQLTPHHTDPQTSRTLTLISKTVQTLGSL
  SKSKSASFKESYMATFYEFFNEQKYADAVKNFLDLISSSGRRDPKSVEQPIVLKEGFMIKRAQGRKRFGMKNFKK
  RWFRLTNHEFTYHKSKGDQPLYSIPIENILAVEKLEEESFKMKNMFQVIQPERALYIQANNCVEAKDWIDILTKV
  SQCNQKRLTVYHPSAYLSGHWLCCRAPSDSAPGCSPCTGGLPANIQLDIDGDRETERIYSLFNLYMSKLEKMQEA
  CGSKSVYDGPEQEEYSTFVIDDPQETYKTLKQVIAGVGALEQEHAQYKRDKFKKTKYGSQEHPIGDKSFQNYIRQ
  QSETSTHSI

• Structural information:
  • Protein Domains: (1..11-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (123..26-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (330..52-)
    (/note="Ras-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00167-)
    (-)
  • Interpro: IPR000008  IPR035892  IPR011993  IPR001849  IPR039360   IPR037774  IPR023152  IPR001936  IPR008936  IPR001562  
  • Prosite: PS50004 PS50003 PS00509 PS50018 PS51113
  • CDD: cd13371
  • STRING: ENSP00000335029
• Other Databases: GeneCards:  RASA3  Malacards:  RASA3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007165	signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0046580	negative regulation of Ras protein signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0007165	signal transduction	TAS	biological process
GO:0000165	MAPK cascade	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0015278	calcium-release channel activity	IDA	molecular function
GO:0031235	intrinsic component of the cytoplasmic side of the plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0051209	release of sequestered calcium ion into cytosol	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
hsa04014	Ras signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray