• Gene id: 5910

Gene Summary

• Gene Symbol: RAP1GDS1   Gene   UCSC   Ensembl
• Aliases: GDS1, SmgGDS
• Gene name: Rap1 GTPase-GDP dissociation stimulator 1
• Alternate names: rap1 GTPase-GDP dissociation stimulator 1, RAP1, GTP-GDP dissociation stimulator 1, SMG GDS protein, SMG P21 stimulatory GDP/GTP exchange protein, exchange factor smgGDS,
• Gene location: 4q23 (98261380: 98443857)     Exons: 7     NC_000004.12
• Gene summary(Entrez): The smg GDP dissociation stimulator (smgGDS) protein is a stimulatory GDP/GTP exchange protein with GTPase activity (Riess et al., 1993 [PubMed 8262526]).[supplied by OMIM, Feb 2010]
• OMIM: 179502

Protein Summary

• Protein general information: P52306  
  • Name: Rap1 GTPase GDP dissociation stimulator 1 (Exchange factor smgGDS) (SMG GDS protein) (SMG P21 stimulatory GDP/GTP exchange protein)
  • Length: 607  
  • Mass: 66317
• Sequence:

  MDNLSDTLKKLKITAVDKTEDSLEGCLDCLLQALAQNNTETSEKIQASGILQLFASLLTPQSSCKAKVANIIAEV
  AKNEFMRIPCVDAGLISPLVQLLNSKDQEVLLQTGRALGNICYDSHEGRSAVDQAGGAQIVIDHLRSLCSITDPA
  NEKLLTVFCGMLMNYSNENDSLQAQLINMGVIPTLVKLLGIHCQNAALTEMCLVAFGNLAELESSKEQFASTNIA
  EELVKLFKKQIEHDKREMIFEVLAPLAENDAIKLQLVEAGLVECLLEIVQQKVDSDKEDDITELKTGSDLMVLLL
  LGDESMQKLFEGGKGSVFQRVLSWIPSNNHQLQLAGALAIANFARNDANCIHMVDNGIVEKLMDLLDRHVEDGNV
  TVQHAALSALRNLAIPVINKAKMLSAGVTEAVLKFLKSEMPPVQFKLLGTLRMLIDAQAEAAEQLGKNVKLVERL
  VEWCEAKDHAGVMGESNRLLSALIRHSKSKDVIKTIVQSGGIKHLVTMATSEHVIMQNEALVALALIAALELGTA
  EKDLESAKLVQILHRLLADERSAPEIKYNSMVLICALMGSECLHKEVQDLAFLDVVSKLRSHENKSVAQQASLTE
  QRLTVES

• Structural information:
  • Interpro: IPR011989  IPR016024  IPR000225  IPR040144  
  • Prosite: PS50176
  • PDB: 5XGC 5ZHX
  • PDBsum: 5XGC 5ZHX
  • DIP: 61080
  • STRING: ENSP00000340454
• Other Databases: GeneCards:  RAP1GDS1  Malacards:  RAP1GDS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005829	cytosol	IBA	cellular component
GO:0043547	positive regulation of GTPase activity	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0005096	GTPase activator activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0014829	vascular smooth muscle contraction	IEA	biological process
GO:0043547	positive regulation of GTPase activity	IEA	biological process
GO:0031034	myosin filament assembly	IEA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IMP	biological process
GO:0032471	negative regulation of endoplasmic reticulum calcium ion concentration	IMP	biological process
GO:0005096	GTPase activator activity	NAS	molecular function

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq