RUFY1 (RUN and FYVE domain containing 1)

Gene

• Entrez ID: 80230
• Gene name: RUN and FYVE domain containing 1
• Gene symbol: RUFY1
• Synonyms (NCBI Gene): RABIP4, ZFYVE12
• Chromosome: 5
• Chromosome location: 5q35.3
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1322382	hsa-miR-196a	CLIP-seq
MIRT1322383	hsa-miR-196b	CLIP-seq
MIRT1322384	hsa-miR-203	CLIP-seq
MIRT1322385	hsa-miR-3125	CLIP-seq
MIRT1322386	hsa-miR-3609	CLIP-seq
MIRT1322387	hsa-miR-3662	CLIP-seq
MIRT1322388	hsa-miR-3680	CLIP-seq
MIRT1322389	hsa-miR-3916	CLIP-seq
MIRT1322390	hsa-miR-3927	CLIP-seq
MIRT1322391	hsa-miR-4253	CLIP-seq
MIRT1322392	hsa-miR-4457	CLIP-seq
MIRT1322393	hsa-miR-4761-3p	CLIP-seq
MIRT1322394	hsa-miR-4798-3p	CLIP-seq
MIRT1322395	hsa-miR-513b	CLIP-seq
MIRT1322396	hsa-miR-548ah	CLIP-seq
MIRT1322397	hsa-miR-548t	CLIP-seq
MIRT1322398	hsa-miR-606	CLIP-seq
MIRT1322399	hsa-miR-224	CLIP-seq
MIRT1322382	hsa-miR-196a	CLIP-seq
MIRT1322383	hsa-miR-196b	CLIP-seq
MIRT1322390	hsa-miR-3927	CLIP-seq
MIRT1322391	hsa-miR-4253	CLIP-seq
MIRT1322392	hsa-miR-4457	CLIP-seq
MIRT1322393	hsa-miR-4761-3p	CLIP-seq
MIRT1322395	hsa-miR-513b	CLIP-seq
MIRT2615954	hsa-miR-124	CLIP-seq
MIRT2615955	hsa-miR-4716-5p	CLIP-seq
MIRT2615956	hsa-miR-4771	CLIP-seq
MIRT2615957	hsa-miR-506	CLIP-seq
MIRT2615954	hsa-miR-124	CLIP-seq
MIRT2615955	hsa-miR-4716-5p	CLIP-seq
MIRT2615956	hsa-miR-4771	CLIP-seq
MIRT2615957	hsa-miR-506	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21988832, 25416956, 28514442, 29892012, 31515488, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IDA	11877430
GO:0005768	Component	Endosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006897	Process	Endocytosis	IEA
GO:0007264	Process	Small GTPase-mediated signal transduction	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0015031	Process	Protein transport	IBA
GO:0015031	Process	Protein transport	IEA
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016607	Component	Nuclear speck	IDA
GO:0017124	Function	SH3 domain binding	IEA
GO:0017124	Function	SH3 domain binding	IPI	11877430
GO:0030100	Process	Regulation of endocytosis	IBA
GO:0030100	Process	Regulation of endocytosis	IEA
GO:0030100	Process	Regulation of endocytosis	IEA
GO:0030100	Process	Regulation of endocytosis	IPI	11877430
GO:0030674	Function	Protein-macromolecule adaptor activity	IDA	20534812
GO:0031901	Component	Early endosome membrane	IDA	20534812
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	TAS
GO:0034058	Process	Endosomal vesicle fusion	IDA	20534812
GO:0034058	Process	Endosomal vesicle fusion	IDA	20534812
GO:0034498	Process	Early endosome to Golgi transport	IDA	36282215
GO:0034498	Process	Early endosome to Golgi transport	IDA	36282215
GO:0042169	Function	SH2 domain binding	IPI	11877430
GO:0042802	Function	Identical protein binding	IPI	32296183
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 610327
• HGNC: 19760
• e!Ensembl: ENSG00000176783

Protein

• UniProt ID: Q96T51
• Protein 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)
• Protein function: Activating adapter involved in cargo sorting from early/recycling endosomes. Regulates retrieval of proteins from endosomes to the trans-Golgi network through interaction with the dynein-dynactin complex (PubMed:36282215). Dual effector of RAB4B
• PDB: 2YQM, 2YW8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02759	RUN	147 → 270	RUN domain	Family
  PF01363	FYVE	637 → 701	FYVE zinc finger	Domain

• Tissue specificity: TISSUE SPECIFICITY: Broadly expressed, with highest levels in lung, testis, kidney and brain. {ECO:0000269|PubMed:11877430}.
• Sequence:

  MADREGGCAAGRGRELEPELEPGPGPGSALEPGEEFEIVDRSQLPGPGDLRSATRPRAAE
  GWSAPILTLARRATGNLSASCGSALRAAAGLGGGDSGDGTARAASKCQMMEERANLMHMM
  KLSIKVLLQSALSLGRSLDADHAPLQQFFVVMEHCLKHGLKVKKSFIGQNKSFFGPLELV
  EKLCPEASDIATSVRNLPELKTAVGRGRAWLYLALMQKKLADYLKVLIDNKHLLSEFYEP
  EALMMEEEGMVIVGLLVGLNVLDANLCLKGEDLDSQVGVIDFSLYLKDVQDLDGGKEHER
  ITDVLDQKNYVEELNRHLSCTVGDLQTKIDGLEKTNSKLQEELSAATDRICSLQEEQQQL
  REQNELIRERSEKSVEITKQDTKVELETYKQTRQGLDEMYSDVWKQLKEEKKVRLELEKE
  LELQIGMKTEMEIAMKLLEKDTHEKQDTLVALRQQLEEVKAINLQMFHKAQNAESSLQQK
  NEAITSFEGKTNQVMSSMKQMEERLQHSERARQGAEERSHKLQQELGGRIGALQLQLSQL
  HEQCSSLEKELKSEKEQRQALQRELQHEKDTSSLLRMELQQVEGLKKELRELQDEKAELQ
  KICEEQEQALQEMGLHLSQSKLKMEDIKEVNQALKGHAWLKDDEATHCRQCEKEFSISRR
  KHHCRNCGHIFCNTCSSNELALPSYPKPVRVCDSCHTLLLQRCSSTAS

• Sequence length: 708

Pathways

KEGG:

Endocytosis

Reactome:

Synthesis of PIPs at the plasma membrane

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Associated diseases

Unknown
Disease merge term	Disease name	Evidence	References	Source
Eating Disorders	Eating disorders	N/A	N/A	GWAS
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Melanoma	Associate	35871080