• Gene id: 22902

Gene Summary

• Gene Symbol: RUFY3   Gene   UCSC   Ensembl
• Aliases: RIPX, SINGAR1, ZFYVE30
• Gene name: RUN and FYVE domain containing 3
• Alternate names: protein RUFY3, rap2 interacting protein x, single axon-regulated protein, single axon-related 1,
• Gene location: 4q13.3 (70704203: 70808618)     Exons: 6     NC_000004.12
• Gene summary(Entrez): This gene encodes a RPIP8, UNC-14, and NESCA domain-containing protein that is required for maintenance of neuronal polarity. In addition, it has been implicated in mediation of gastric cancer cell migration and invasion via interaction with P21-activated
• OMIM: 611194

Protein Summary

• Protein general information: Q7L099  
  • Name: Protein RUFY3 (RUN and FYVE domain containing protein 3) (Rap2 interacting protein x) (RIPx) (Single axon regulated protein) (Singar)
  • Length: 469  
  • Mass: 52965
  • Tissue specificity: Overexpressed in gastric cancer cells and tissues (at protein level) (PubMed
• Sequence:

  MSALTPPTDMPTPTTDKITQAAMETIYLCKFRVSMDGEWLCLRELDDISLTPDPEPTHEDPNYLMANERMNLMNM
  AKLSIKGLIESALNLGRTLDSDYAPLQQFFVVMEHCLKHGLKAKKTFLGQNKSFWGPLELVEKLVPEAAEITASV
  KDLPGLKTPVGRGRAWLRLALMQKKLSEYMKALINKKELLSEFYEPNALMMEEEGAIIAGLLVGLNVIDANFCMK
  GEDLDSQVGVIDFSMYLKDGNSSKGTEGDGQITAILDQKNYVEELNRHLNATVNNLQAKVDALEKSNTKLTEELA
  VANNRIITLQEEMERVKEESSYILESNRKGPKQDRTAEGQALSEARKHLKEETQLRLDVEKELEMQISMRQEMEL
  AMKMLEKDVCEKQDALVSLRQQLDDLRALKHELAFKLQSSDLGVKQKSELNSRLEEKTNQMAATIKQLEQSEKDL
  VKQAKTLNSAANKLIPKHH

• Structural information:
  • Protein Domains: (95..22-)
    (/note="RUN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00178"-)
  • Interpro: IPR004012  IPR037213  
  • Prosite: PS50826
  • STRING: ENSP00000370394
• Other Databases: GeneCards:  RUFY3  Malacards:  RUFY3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0030175	filopodium	ISS	cellular component
GO:0050771	negative regulation of axonogenesis	ISS	biological process
GO:0030426	growth cone	ISS	cellular component
GO:0050770	regulation of axonogenesis	IBA	biological process
GO:0030425	dendrite	IBA	cellular component
GO:0030424	axon	IBA	cellular component
GO:0043025	neuronal cell body	IBA	cellular component
GO:0005737	cytoplasm	IBA	cellular component
GO:0071437	invadopodium	IDA	cellular component
GO:0030335	positive regulation of cell migration	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030425	dendrite	ISS	cellular component
GO:0030424	axon	ISS	cellular component
GO:2000114	regulation of establishment of cell polarity	ISS	biological process
GO:0090316	positive regulation of intracellular protein transport	ISS	biological process
GO:0045773	positive regulation of axon extension	ISS	biological process
GO:0007015	actin filament organization	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0043204	perikaryon	ISS	cellular component
GO:0030027	lamellipodium	ISS	cellular component
GO:0043204	perikaryon	ISS	cellular component
GO:0030426	growth cone	ISS	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030054	cell junction	IEA	cellular component
GO:0030154	cell differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0007399	nervous system development	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:0012505	endomembrane system	IEA	cellular component
GO:0030175	filopodium	IEA	cellular component
GO:0071437	invadopodium	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0030027	lamellipodium	IEA	cellular component
GO:0030426	growth cone	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component

Diseases

Associated diseases	References
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)