RUFY1 (RUN and FYVE domain containing 1)

Gene

• Entrez ID: 80230
• Gene name: RUN and FYVE domain containing 1
• Gene symbol: RUFY1
• Synonyms: 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, 29892012, 31515488
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005768	Component	Endosome	IDA	11877430
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0006897	Process	Endocytosis	IEA
GO:0007264	Process	Small GTPase mediated signal transduction	IEA
GO:0008289	Function	Lipid binding	IEA
GO:0015031	Process	Protein transport	IBA	21873635
GO:0016607	Component	Nuclear speck	IDA
GO:0017124	Function	SH3 domain binding	IPI	11877430
GO:0030100	Process	Regulation of endocytosis	IBA	21873635
GO:0030100	Process	Regulation of endocytosis	IPI	11877430
GO:0031901	Component	Early endosome membrane	TAS
GO:0042169	Function	SH2 domain binding	IPI	11877430
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA
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

• 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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243