• Gene id: 29098

Gene Summary

• Gene Symbol: RANGRF   Gene   UCSC   Ensembl
• Aliases: HSPC165, HSPC236, MOG1, RANGNRF
• Gene name: RAN guanine nucleotide release factor
• Alternate names: ran guanine nucleotide release factor, MOG1 homolog, ran-binding protein MOG1,
• Gene location: 17p13.1 (8288669: 8290086)     Exons: 3     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein that has been shown to function as a guanine nucleotide release factor in mouse and to regulate the expression and function of the Nav1.5 cardiac sodium channel in human. Alternative splicing results in multiple transcript vari
• OMIM: 607954

Protein Summary

• Protein general information: Q9HD47  
  • Name: Ran guanine nucleotide release factor (RanGNRF) (Ran binding protein MOG1)
  • Length: 186  
  • Mass: 20448
  • Tissue specificity: Isoform 1 and isoform 2 are ubiquitously expressed (PubMed
• Sequence:

  MEPTRDCPLFGGAFSAILPMGAIDVSDLRPVPDNQEVFCHPVTDQSLIVELLELQAHVRGEAAARYHFEDVGGVQ
  GARAVHVESVQPLSLENLALRGRCQEAWVLSGKQQIAKENQQVAKDVTLHQALLRLPQYQTDLLLTFNQPPPDNR
  SSLGPENLSPAPWSLGDFEQLVTSLTLHDPNIFGPQ

• Structural information:
  • Interpro: IPR007681  IPR016123  
  • CDD: cd00224
  • PDB: 5YFG
  • PDBsum: 5YFG
  • STRING: ENSP00000226105
• Other Databases: GeneCards:  RANGRF  Malacards:  RANGRF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0090226	regulation of microtubule nucleation by Ran protein signal transduction	IMP	biological process
GO:0008536	Ran GTPase binding	IPI	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:2000649	regulation of sodium ion transmembrane transporter activity	IEA	biological process
GO:0044325	ion channel binding	IEA	molecular function
GO:0014704	intercalated disc	IEA	cellular component
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005087	Ran guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:1902305	regulation of sodium ion transmembrane transport	IEA	biological process
GO:0017080	sodium channel regulator activity	IEA	molecular function
GO:0008536	Ran GTPase binding	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0003254	regulation of membrane depolarization	IEA	biological process
GO:0044325	ion channel binding	IPI	molecular function
GO:0017080	sodium channel regulator activity	IDA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	ISS	molecular function
GO:0008536	Ran GTPase binding	ISS	molecular function
GO:0008536	Ran GTPase binding	IPI	molecular function
GO:0017080	sodium channel regulator activity	IMP	molecular function
GO:0005791	rough endoplasmic reticulum	IDA	cellular component
GO:0005901	caveola	IDA	cellular component
GO:2000649	regulation of sodium ion transmembrane transporter activity	IDA	biological process
GO:0005087	Ran guanyl-nucleotide exchange factor activity	ISS	molecular function
GO:0003254	regulation of membrane depolarization	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005886	plasma membrane	IC	cellular component
GO:0042391	regulation of membrane potential	IDA	biological process
GO:1902305	regulation of sodium ion transmembrane transport	IDA	biological process
GO:2000010	positive regulation of protein localization to cell surface	IDA	biological process
GO:0005654	nucleoplasm	ISS	cellular component
GO:0014704	intercalated disc	ISS	cellular component
GO:2000649	regulation of sodium ion transmembrane transporter activity	IMP	biological process
GO:0002027	regulation of heart rate	TAS	biological process
GO:0003254	regulation of membrane depolarization	IMP	biological process
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	biological process
GO:0032527	protein exit from endoplasmic reticulum	IMP	biological process
GO:1903078	positive regulation of protein localization to plasma membrane	IMP	biological process
GO:1900825	regulation of membrane depolarization during cardiac muscle cell action potential	TAS	biological process
GO:1902305	regulation of sodium ion transmembrane transport	IMP	biological process
GO:2000010	positive regulation of protein localization to cell surface	IMP	biological process
GO:0098909	regulation of cardiac muscle cell action potential involved in regulation of contraction	IMP	biological process
GO:0098905	regulation of bundle of His cell action potential	IMP	biological process
GO:2000649	regulation of sodium ion transmembrane transporter activity	IMP	biological process
GO:1902305	regulation of sodium ion transmembrane transport	IMP	biological process
GO:1900825	regulation of membrane depolarization during cardiac muscle cell action potential	IMP	biological process
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
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)
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
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray