• Gene id: 57148

Gene Summary

• Gene Symbol: RALGAPB   Gene   UCSC   Ensembl
• Aliases: KIAA1219, RalGAPbeta
• Gene name: Ral GTPase activating protein non-catalytic subunit beta
• Alternate names: ral GTPase-activating protein subunit beta, Ral GTPase activating protein non-catalytic beta subunit, Ral GTPase activating protein, beta subunit (non-catalytic),
• Gene location: 20q11.23 (38472819: 38578860)     Exons: 33     NC_000020.11
• OMIM: 618833

Protein Summary

• Protein general information: Q86X10  
  • Name: Ral GTPase activating protein subunit beta (p170)
  • Length: 1494  
  • Mass: 166799
  • Tissue specificity: Highly expressed in brain, mostly in amygdala.
• Sequence:

  MYSEWRSLHLVIQNDQGHTSVLHSYPESVGREVANAVVRPLGQVLGTPSVAGSENLLKTDKEVKWTMEVICYGLT
  LPLDGETVKYCVDVYTDWIMALVLPKDSIPLPVIKEPNQYVQTILKHLQNLFVPRQEQGSSQIRLCLQVLRAIQK
  LARESSLMARETWEVLLLFLLQINDILLAPPTVQGGIAENLAEKLIGVLFEVWLLACTRCFPTPPYWKTAKEMVA
  NWRHHPAVVEQWSKVICALTSRLLRFTYGPSFPAFKVPDEDASLIPPEMDNECVAQTWFRFLHMLSNPVDLSNPA
  IISSTPKFQEQFLNVSGMPQELNQYPCLKHLPQIFFRAMRGISCLVDAFLGISRPRSDSAPPTPVNRLSMPQSAA
  VSTTPPHNRRHRAVTVNKATMKTSTVSTAHASKVQHQTSSTSPLSSPNQTSSEPRPLPAPRRPKVNSILNLFGSW
  LFDAAFVHCKLHNGINRDSSMTAITTQASMEFRRKGSQMSTDTMVSNPMFDASEFPDNYEAGRAEACGTLCRIFC
  SKKTGEEILPAYLSRFYMLLIQGLQINDYVCHPVLASVILNSPPLFCCDLKGIDVVVPYFISALETILPDRELSK
  FKSYVNPTELRRSSINILLSLLPLPHHFGTVKSEVVLEGKFSNDDSSSYDKPITFLSLKLRLVNILIGALQTETD
  PNNTQMILGAMLNIVQDSALLEAIGCQMEMGGGENNLKSHSRTNSGISSASGGSTEPTTPDSERPAQALLRDYAL
  NTDSAAGLLIRSIHLVTQRLNSQWRQDMSISLAALELLSGLAKVKVMVDSGDRKRAISSVCTYIVYQCSRPAPLH
  SRDLHSMIVAAFQCLCVWLTEHPDMLDEKDCLKEVLEIVELGISGSKSKNNEQEVKYKGDKEPNPASMRVKDAAE
  ATLTCIMQLLGAFPSPSGPASPCSLVNETTLIKYSRLPTINKHSFRYFVLDNSVILAMLEQPLGNEQNDFFPSVT
  VLVRGMSGRLAWAQQLCLLPRGAKANQKLFVPEPRPVPKNDVGFKYSVKHRPFPEEVDKIPFVKADLSIPDLHEI
  VTEELEERHEKLRSGMAQQIAYEIHLEQQSEEELQKRSFPDPVTDCKPPPPAQEFQTARLFLSHFGFLSLEALKE
  PANSRLPPHLIALDSTIPGFFDDIGYLDLLPCRPFDTVFIFYMKPGQKTNQEILKNVESSRTVQPHFLEFLLSLG
  WSVDVGRHPGWTGHVSTSWSINCCDDGEGSQQEVISSEDIGASIFNGQKKVLYYADALTEIAFVVPSPVESLTDS
  LESNISDQDSDSNMDLMPGILKQPSLTLELFPNHTDNLNSSQRLSPSSRMRKLPQGRPVPPLGPETRVSVVWVER
  YDDIENFPLSELMTEISTGVETTANSSTSLRSTTLEKEVPVIFIHPLNTGLFRIKIQGATGKFNMVIPLVDGMIV
  SRRALGFLVRQTVINICRRKRLESDSYSPPHVRRKQKITDIVNKYRNKQLEPEFYTSLFQEVGLKNCSS

• Structural information:
  • Protein Domains: (1149..139-)
    (/note="Rap-GAP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00165"-)
  • Interpro: IPR039930  IPR035974  IPR000331  
  • Prosite: PS50085
  • STRING: ENSP00000262879
• Other Databases: GeneCards:  RALGAPB  Malacards:  RALGAPB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0051056	regulation of small GTPase mediated signal transduction	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0046982	protein heterodimerization activity	ISS	molecular function
GO:0005096	GTPase activator activity	ISS	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0090630	activation of GTPase activity	ISS	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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