• Gene id: 80230

Gene Summary

• Gene Symbol: RUFY1   Gene   UCSC   Ensembl
• Aliases: RABIP4, ZFYVE12
• Gene name: RUN and FYVE domain containing 1
• Alternate names: RUN and FYVE domain-containing protein 1, FYVE-finger protein EIP1, la-binding protein 1, rab4-interacting protein, zinc finger FYVE domain-containing protein 12,
• Gene location: 5q35.3 (73093177: 73063076)     Exons: 8     NC_000008.11
• Gene summary(Entrez): This gene encodes a protein that contains a RUN domain and a FYVE-type zinc finger domain. The encoded protein binds to phosphatidylinositol-3-phosphate (PI3P) and plays a role in early endosomal trafficking, tethering and fusion through interactions with
• OMIM: 610327

Protein Summary

• Protein general information: Q96T51  
  • Name: RUN and FYVE domain containing protein 1 (FYVE finger protein EIP1) (La binding protein 1) (Rab4 interacting protein) (Zinc finger FYVE domain containing protein 12)
  • Length: 708  
  • Mass: 79818
  • Tissue specificity: Broadly expressed, with highest levels in lung, testis, kidney and brain. {ECO
• Sequence:

  MADREGGCAAGRGRELEPELEPGPGPGSALEPGEEFEIVDRSQLPGPGDLRSATRPRAAEGWSAPILTLARRATG
  NLSASCGSALRAAAGLGGGDSGDGTARAASKCQMMEERANLMHMMKLSIKVLLQSALSLGRSLDADHAPLQQFFV
  VMEHCLKHGLKVKKSFIGQNKSFFGPLELVEKLCPEASDIATSVRNLPELKTAVGRGRAWLYLALMQKKLADYLK
  VLIDNKHLLSEFYEPEALMMEEEGMVIVGLLVGLNVLDANLCLKGEDLDSQVGVIDFSLYLKDVQDLDGGKEHER
  ITDVLDQKNYVEELNRHLSCTVGDLQTKIDGLEKTNSKLQEELSAATDRICSLQEEQQQLREQNELIRERSEKSV
  EITKQDTKVELETYKQTRQGLDEMYSDVWKQLKEEKKVRLELEKELELQIGMKTEMEIAMKLLEKDTHEKQDTLV
  ALRQQLEEVKAINLQMFHKAQNAESSLQQKNEAITSFEGKTNQVMSSMKQMEERLQHSERARQGAEERSHKLQQE
  LGGRIGALQLQLSQLHEQCSSLEKELKSEKEQRQALQRELQHEKDTSSLLRMELQQVEGLKKELRELQDEKAELQ
  KICEEQEQALQEMGLHLSQSKLKMEDIKEVNQALKGHAWLKDDEATHCRQCEKEFSISRRKHHCRNCGHIFCNTC
  SSNELALPSYPKPVRVCDSCHTLLLQRCSSTAS

• Structural information:
  • Protein Domains: (139..27-)
    (/note="RUN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00178"-)
  • Interpro: IPR004012  IPR037213  IPR000306  IPR017455  IPR011011   IPR001841  IPR013083  
  • Prosite: PS50826 PS50178
  • PDB: 2YQM 2YW8
  • PDBsum: 2YQM 2YW8
  • STRING: ENSP00000325594
• Other Databases: GeneCards:  RUFY1  Malacards:  RUFY1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005737	cytoplasm	IBA	cellular component
GO:0015031	protein transport	IBA	biological process
GO:0030100	regulation of endocytosis	IBA	biological process
GO:0043231	intracellular membrane-bounded organelle	IBA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0008289	lipid binding	IEA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0046872	metal ion binding	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0006897	endocytosis	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0006661	phosphatidylinositol biosynthetic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	cellular component
GO:0031901	early endosome membrane	TAS	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: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:0030100	regulation of endocytosis	IEA	biological process
GO:0015031	protein transport	IEA	biological process
GO:0007264	small GTPase mediated signal transduction	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016607	nuclear speck	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005768	endosome	IDA	cellular component
GO:0030100	regulation of endocytosis	IPI	biological process
GO:0042169	SH2 domain binding	IPI	molecular function
GO:0017124	SH3 domain binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04144	Endocytosis

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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)