• Gene id: 55969

Gene Summary

• Gene Symbol: RAB5IF   Gene   UCSC   Ensembl
• Aliases: C20orf24, PNAS-11, RCAF1, RIP5
• Gene name: RAB5 interacting factor
• Alternate names: respirasome Complex Assembly Factor 1, rab5-interacting protein, respirasome complex assembly factor 1, uncharacterized protein C20orf24,
• Gene location: 20q11.23 (36605778: 36612556)     Exons: 5     NC_000020.11

Protein Summary

• Protein general information: Q9BUV8  
  • Name: Respirasome Complex Assembly Factor 1 (Rab5 interacting protein) (RIP5)
  • Length: 137  
  • Mass: 15487
  • Tissue specificity: Expressed in embryonic stem cells and differentiated neuronal cells. {ECO
• Sequence:

  MSGGRRKEEPPQPQLANGALKVSVWSKVLRSDAAWEDKDEFLDVIYWFRQIIAVVLGVIWGVLPLRGFLGIAGFC
  LINAGVLYLYFSNYLQIDEEEYGGTWELTKEGFMTSFALFMVCVADSFTTGHLDHLLHCHPL

• Structural information:
  • Interpro: IPR010742  IPR029008  
  • STRING: ENSP00000341213
• Other Databases: GeneCards:  RAB5IF  Malacards:  RAB5IF

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005746	mitochondrial respirasome	IEA	cellular component
GO:0097250	mitochondrial respirasome assembly	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0005746	mitochondrial respirasome	IMP	cellular component
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:0097250	mitochondrial respirasome assembly	IMP	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

Diseases

Associated diseases	References
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)