• Gene id: 8437

Gene Summary

• Gene Symbol: RASAL1   Gene   UCSC   Ensembl
• Aliases: RASAL
• Gene name: RAS protein activator like 1
• Alternate names: rasGAP-activating-like protein 1, GAP1 like protein, ras GTPase-activating-like protein,
• Gene location: 12q24.13 (113136247: 113096514)     Exons: 23     NC_000012.12
• Gene summary(Entrez): The protein encoded by this gene is member of the GAP1 family of GTPase-activating proteins. These proteins stimulate the GTPase activity of normal RAS p21 but not its oncogenic counterpart. Acting as a suppressor of RAS function, the protein enhances the
• OMIM: 604568

Protein Summary

• Protein general information: O95294  
  • Name: RasGAP activating like protein 1 (RAS protein activator like 1) (Ras GTPase activating like protein)
  • Length: 804  
  • Mass: 90016
  • Tissue specificity: Highly expressed in thyroid and adrenal medulla, lower expression in brain, spinal cord and trachea (PubMed
• Sequence:

  MAKSSSLNVRVVEGRALPAKDVSGSSDPYCLVKVDDEVVARTATVWRSLGPFWGEEYTVHLPLDFHQLAFYVLDE
  DTVGHDDIIGKISLSREAITADPRGIDSWINLSRVDPDAEVQGEICLSVQMLEDGQGRCLRCHVLQARDLAPRDI
  SGTSDPFARVFWGSQSLETSTIKKTRFPHWDEVLELREMPGAPSPLRVELWDWDMVGKNDFLGMVEFSPKTLQQK
  PPKGWFRLLPFPRAEEDSGGNLGALRVKVRLIEDRVLPSQCYQPLMELLMESVQGPAEEDTASPLALLEELTLGD
  CRQDLATKLVKLFLGRGLAGRFLDYLTRREVARTMDPNTLFRSNSLASKSMEQFMKLVGMPYLHEVLKPVISRVF
  EEKKYMELDPCKMDLGRTRRISFKGALSEEQMRETSLGLLTGYLGPIVDAIVGSVGRCPPAMRLAFKQLHRRVEE
  RFPQAEHQDVKYLAISGFLFLRFFAPAILTPKLFDLRDQHADPQTSRSLLLLAKAVQSIGNLGQQLGQGKELWMA
  PLHPFLLQCVSRVRDFLDRLVDVDGDEAGVPARALFPPSAIVREGYLLKRKEEPAGLATRFAFKKRYVWLSGETL
  SFSKSPEWQMCHSIPVSHIRAVERVDEGAFQLPHVMQVVTQDGTGALHTTYLQCKNVNELNQWLSALRKASAPNP
  NKLAACHPGAFRSARWTCCLQAERSAAGCSRTHSAVTLGDWSDPLDPDAEAQTVYRQLLLGRDQLRLKLLEDSNM
  DTTLEADTGACPEVLARQRAATARLLEVLADLDRAHEEFQQQERGKAALGPLGP

• Structural information:
  • Protein Domains: (1..10-)
    (/note="C2-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (116..23-)
    (/note="C2-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00041-)
    (301..51-)
    (/note="Ras-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00167-)
    (-)
  • Interpro: IPR000008  IPR035892  IPR011993  IPR001849  IPR039360   IPR028555  IPR037776  IPR023152  IPR001936  IPR008936  IPR001562  
  • Prosite: PS50004 PS50003 PS00509 PS50018 PS51113
  • CDD: cd05135
  • STRING: ENSP00000450244
• Other Databases: GeneCards:  RASAL1  Malacards:  RASAL1

Gene ontology

GO accession	Term name	Evidence code	Go category
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:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IDA	colocalizes with
GO:1903861	positive regulation of dendrite extension	IDA	biological process
GO:0071277	cellular response to calcium ion	IEA	biological process
GO:0007165	signal transduction	IEA	biological process
GO:0046580	negative regulation of Ras protein signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005543	phospholipid binding	IEA	molecular function
GO:0035556	intracellular signal transduction	IEA	biological process
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005096	GTPase activator activity	TAS	molecular function
GO:0005543	phospholipid binding	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

KEGG pathways

Pathway id	Pathway name
hsa04014	Ras signaling pathway

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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