• Gene id: 9649

Gene Summary

• Gene Symbol: RALGPS1   Gene   UCSC   Ensembl
• Aliases: RALGEF2, RALGPS1A
• Gene name: Ral GEF with PH domain and SH3 binding motif 1
• Alternate names: ras-specific guanine nucleotide-releasing factor RalGPS1, Ral guanine nucleotide exchange factor RalGPS1A, ral guanine nucleotide exchange factor 2, ralA exchange factor RalGPS1,
• Gene location: 9q33.3 (50025205: 50037087)     Exons: 7     NC_000016.10
• OMIM: 614444

Protein Summary

• Protein general information: Q5JS13  
  • Name: Ras specific guanine nucleotide releasing factor RalGPS1 (Ral GEF with PH domain and SH3 binding motif 1) (Ral guanine nucleotide exchange factor 2) (RalGEF 2) (RalA exchange factor RalGPS1)
  • Length: 557  
  • Mass: 62133
  • Tissue specificity: Widely expressed (at protein level). Isoform 2 is expressed in brain, colon, kidney, pancreas, prostate, skeletal muscle, small intestine, testis, thymus and uterus. Isoform 1 is expressed at high levels in heart and testis and at lowe
• Sequence:

  MYKRNGLMASVLVTSATPQGSSSSDSLEGQSCDYASKSYDAVVFDVLKVTPEEFASQITLMDIPVFKAIQPEELA
  SCGWSKKEKHSLAPNVVAFTRRFNQVSFWVVREILTAQTLKIRAEILSHFVKIAKKLLELNNLHSLMSVVSALQS
  APIFRLTKTWALLNRKDKTTFEKLDYLMSKEDNYKRTREYIRSLKMVPSIPYLGIYLLDLIYIDSAYPASGSIME
  NEQRSNQMNNILRIIADLQVSCSYDHLTTLPHVQKYLKSVRYIEELQKFVEDDNYKLSLRIEPGSSSPRLVSSKE
  DLAGPSAGSGSARFSRRPTCPDTSVAGSLPTPPVPRHRKSHSLGNNMMCQLSVVESKSATFPSEKARHLLDDSVL
  ESRSPRRGLALTSSSAVTNGLSLGSSESSEFSEEMSSGLESPTGPCICSLGNSAAVPTMEGPLRRKTLLKEGRKP
  ALSSWTRYWVILSGSTLLYYGAKSLRGTDRKHYKSTPGKKVSIVGWMVQLPDDPEHPDIFQLNNPDKGNVYKFQT
  GSRFHAILWHKHLDDACKSNRPQVPANLMSFE

• Structural information:
  • Protein Domains: (50..28-)
    (/note="Ras-GEF-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00168-)
    (431..54-)
    (/note="PH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00145"-)
  • Interpro: IPR011993  IPR001849  IPR008937  IPR023578  IPR001895   IPR036964  
  • Prosite: PS50003 PS50009
  • CDD: cd00155
  • PDB: 3QXL
  • PDBsum: 3QXL
  • STRING: ENSP00000259351
• Other Databases: GeneCards:  RALGPS1  Malacards:  RALGPS1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008321	Ral guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0032485	regulation of Ral protein signal transduction	IDA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0035556	intracellular signal transduction	NAS	biological process
GO:0005575	cellular_component	ND	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	NAS	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
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
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray