• Gene id: 285180

Gene Summary

• Gene Symbol: RUFY4   Gene   UCSC   Ensembl
• Aliases: ZFYVE31
• Gene name: RUN and FYVE domain containing 4
• Alternate names: RUN and FYVE domain-containing protein 4,
• Gene location: 2q35 (218034933: 218090583)     Exons: 15     NC_000002.12

Protein Summary

• Protein general information: Q6ZNE9  
  • Name: RUN and FYVE domain containing protein 4
  • Length: 571  
  • Mass: 64350
• Sequence:

  MAEEGAILKVTKDLRAAVSAILQGYGDGQGPVTDTSAELHRLCGCLELLLQFDQKEQKSFLGPRKDYWDFLCTAL
  RRQRGNMEPIHFVRSQDKLKTPLGKGRAFIRFCLARGQLAEALQLCLLNSELTREWYGPRSPLLCPERQEDILDS
  LYALNGVAFELDLQQPDLDGAWPMFSESRCSSSTQTQGRRPRKNKDAPKKIPAAYGGPENVQIEDSHTSQAICLQ
  DAPSGQQLAGLPRSQQQRHLPFFLEKKGESSRKHRYPQSMWEPEGKELQLDQEERAPWIEIFLGNSTPSTQGQGK
  GAMGTQKEVIGMEAEVTGVLLVAEGQRTTEGTHKKEAEWSHVQRLLMPSPRGAVEGAVSGSRQGSGGSSILGEPW
  VLQGHATKEDSTVENPQVQTEVTLVARREEQAEVSLQDEIKSLRLGLRKAEEQAQRQEQLLREQEGELQALREQL
  SRCQEERAELQAQLEQKQQEAERRDAMYQEELGGQRDLVQAMKRRVLELIQEKDRLWQRLQHLSSMAPECCVACS
  KIFGRFSRRYPCRLCGGLLCHACSMDYKKRDRCCPPCAQGREAQVT

• Structural information:
  • Protein Domains: (33..16-)
    (/note="RUN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00178"-)
  • Interpro: IPR042939  IPR004012  IPR037213  IPR017455  IPR011011  
  • Prosite: PS50826 PS50178
  • STRING: ENSP00000363270
• Other Databases: GeneCards:  RUFY4  Malacards:  RUFY4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016239	positive regulation of macroautophagy	IBA	biological process
GO:0032266	phosphatidylinositol-3-phosphate binding	IBA	molecular function
GO:0005776	autophagosome	IBA	cellular component
GO:0000045	autophagosome assembly	IBA	biological process
GO:0000045	autophagosome assembly	IDA	biological process
GO:0071353	cellular response to interleukin-4	IDA	biological process
GO:0032266	phosphatidylinositol-3-phosphate binding	IDA	molecular function
GO:0005776	autophagosome	IDA	cellular component
GO:0016239	positive regulation of macroautophagy	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0016239	positive regulation of macroautophagy	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0006914	autophagy	IEA	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:0005776	autophagosome	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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