• Gene id: 27352

Gene Summary

• Gene Symbol: SGSM3   Gene   UCSC   Ensembl
• Aliases: CIP85, MAP, RABGAP5, RUSC3, RUTBC3, RabGAP-5, rabGAPLP
• Gene name: small G protein signaling modulator 3
• Alternate names: small G protein signaling modulator 3, RUN and SH3 containing 3, RUN and TBC1 domain containing 3, RUN and TBC1 domain-containing protein 3, merlin binding protein, merlin-associated protein, rab-GTPase-activating protein-like protein, small G protein signaling ,
• Gene location: 22q13.1 (40370583: 40410288)     Exons: 23     NC_000022.11
• OMIM: 165230

Protein Summary

• Protein general information: Q96HU1  
  • Name: Small G protein signaling modulator 3 (Merlin associated protein) (RUN and TBC1 domain containing protein 3) (Rab GTPase activating protein like protein) (RabGAPLP)
  • Length: 749  
  • Mass: 85354
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MSGSHTPACGPFSALTPSIWPQEILAKYTQKEESAEQPEFYYDEFGFRVYKEEGDEPGSSLLANSPLMEDAPQRL
  RWQAHLEFTHNHDVGDLTWDKIAVSLPRSEKLRSLVLAGIPHGMRPQLWMRLSGALQKKRNSELSYREIVKNSSN
  DETIAAKQIEKDLLRTMPSNACFASMGSIGVPRLRRVLRALAWLYPEIGYCQGTGMVAACLLLFLEEEDAFWMMS
  AIIEDLLPASYFSTTLLGVQTDQRVLRHLIVQYLPRLDKLLQEHDIELSLITLHWFLTAFASVVDIKLLLRIWDL
  FFYEGSRVLFQLTLGMLHLKEEELIQSENSASIFNTLSDIPSQMEDAELLLGVAMRLAGSLTDVAVETQRRKHLA
  YLIADQGQLLGAGTLTNLSQVVRRRTQRRKSTITALLFGEDDLEALKAKNIKQTELVADLREAILRVARHFQCTD
  PKNCSVELTPDYSMESHQRDHENYVACSRSHRRRAKALLDFERHDDDELGFRKNDIITIVSQKDEHCWVGELNGL
  RGWFPAKFVEVLDERSKEYSIAGDDSVTEGVTDLVRGTLCPALKALFEHGLKKPSLLGGACHPWLFIEEAAGREV
  ERDFASVYSRLVLCKTFRLDEDGKVLTPEELLYRAVQSVNVTHDAVHAQMDVKLRSLICVGLNEQVLHLWLEVLC
  SSLPTVEKWYQPWSFLRSPGWVQIKCELRVLCCFAFSLSQDWELPAKREAQQPLKEGVRDMLVKHHLFSWDVDG

• Structural information:
  • Protein Domains: (114..30-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163-)
    (480..53-)
    (/note="SH3-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00192-)
    (555..71-)
    (/note="RUN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00178"-)
  • Interpro: IPR000195  IPR035969  IPR004012  IPR037213  IPR035833   IPR036028  IPR001452  
  • Prosite: PS50826 PS50002 PS50086
  • CDD: cd11813
  • STRING: ENSP00000248929
• Other Databases: GeneCards:  SGSM3  Malacards:  SGSM3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0007050	cell cycle arrest	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0045732	positive regulation of protein catabolic process	IEA	biological process
GO:0005921	gap junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005096	GTPase activator activity	IDA	molecular function
GO:0043547	positive regulation of GTPase activity	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0017137	Rab GTPase binding	IDA	molecular function
GO:0032486	Rap protein signal transduction	IEP	biological process
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0032483	regulation of Rab protein signal transduction	IEP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1902017	regulation of cilium assembly	IMP	NOT|biological process
GO:0048227	plasma membrane to endosome transport	IMP	biological process
GO:0017137	Rab GTPase binding	IPI	molecular function
GO:0017137	Rab GTPase binding	IPI	molecular function

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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq