• Gene id: 5877

Gene Summary

• Gene Symbol: RABIF   Gene   UCSC   Ensembl
• Aliases: MSS4, RASGFR3, RASGRF3
• Gene name: RAB interacting factor
• Alternate names: guanine nucleotide exchange factor MSS4, Ras-specific guanine-releasing factor 3, mammalian suppressor of SEC4, rab-interacting factor,
• Gene location: 1q32.1 (202889148: 202878281)     Exons: 2     NC_000001.11
• Gene summary(Entrez): This gene encodes a member of the SCE4/YPT1/RAB family of small GTP-binding proteins that are involved in the regulation of intracellular vesicular transport. This protein stimulates GTP-GDP exchange in SEC4, and to a lesser extent in YPT1 and RAB3A, and
• OMIM: 603417

Protein Summary

• Protein general information: P47224  
  • Name: Guanine nucleotide exchange factor MSS4 (Rab interacting factor)
  • Length: 123  
  • Mass: 13839
  • Tissue specificity: Ubiquitous.
• Sequence:

  MEPAEQPSELVSAEGRNRKAVLCQRCGSRVLQPGTALFSRRQLFLPSMRKKPALSDGSNPDGDLLQEHWLVEDMF
  IFENVGFTKDVGNIKFLVCADCEIGPIGWHCLDDKNSFYVALERVSHE

• Structural information:
  • Protein Domains: (9..12-)
    (/note="MSS4-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01132"-)
  • Interpro: IPR007515  IPR011057  IPR011323  
  • Prosite: PS51796
  • CDD: cd00246
  • PDB: 1FWQ 2FU5
  • PDBsum: 1FWQ 2FU5
  • STRING: ENSP00000356231
• Other Databases: GeneCards:  RABIF  Malacards:  RABIF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008270	zinc ion binding	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0006892	post-Golgi vesicle-mediated transport	IBA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0015031	protein transport	IEA	biological process
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005085	guanyl-nucleotide exchange factor activity	TAS	molecular function
GO:0061025	membrane fusion	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0005085	guanyl-nucleotide exchange factor 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