Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	80230
Gene name Gene Name - the full gene name approved by the HGNC.	RUN and FYVE domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	RUFY1
Synonyms (NCBI Gene) Gene synonyms aliases	RABIP4, ZFYVE12
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q35.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

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miRTarBase ID	miRNA	Experiments
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

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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

MIM	HGNC	e!Ensembl
610327	19760	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

Interactions

View interactions

	KEGG		Reactome
	Endocytosis		Synthesis of PIPs at the plasma membrane

Show/Hide Causal Diseases (1)

Disease term	Disease name	dbSNP ID	References
Causal
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)

Show/Hide Unknown Diseases (2)

Disease term	Disease name	Source
Unknown
Schizophrenia	Schizophrenia	GWAS
Eating Disorders	Eating Disorders	GWAS

Show/Hide Text Mining Associations (1)

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

RUFY1 (RUN and FYVE domain containing 1)