RUFY1 - RUN and FYVE domain containing 1 Gene

Homo sapiens

Also known as RABIP4; ZFYVE12

Gene ID: 80230 | Gene type: protein coding

About RUFY1

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:179,550,554-179,610,012 (from NCBI)

This gene has 14 transcripts (splice variants), 1 gene allele, 205 orthologues and 13 paralogues. Ubiquitous expression in spleen (RPKM 10.3), thyroid (RPKM 9.1) and 25 other tissues.

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 small GTPases including Rab4, Rab5 and Rab14. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

RUFY1 Products(3)

mRNA	Protein	Name
NM_001040451.3	NP_001035541.1	RUN and FYVE domain-containing protein 1 isoform b
NM_001040452.3	NP_001035542.1	RUN and FYVE domain-containing protein 1 isoform b
NM_025158.5	NP_079434.3	RUN and FYVE domain-containing protein 1 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables SH2 domain binding	IPI IPI: Inferred from physical interaction	11877430	GOA
enables SH3 domain binding	IPI IPI: Inferred from physical interaction	11877430	GOA
enables identical protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21988832	GOA
enables protein-macromolecule adaptor activity	IDA IDA: Inferred from direct assay	20534812	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in early endosome to Golgi transport	IDA IDA: Inferred from direct assay	36282215	GOA
involved in endosomal vesicle fusion	IDA IDA: Inferred from direct assay	20534812	GOA
involved in regulation of endocytosis	IPI IPI: Inferred from physical interaction	11877430	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
is active in early endosome membrane	IDA IDA: Inferred from direct assay	20534812	GOA
located in endosome	IDA IDA: Inferred from direct assay	11877430	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

RUFY1 Protein Structure

RUN

FYVE

0
200
400
600
708 a.a.

Protein Preferred Names

Protein Names

RUN and FYVE domain-containing protein 1

FYVE-finger protein EIP1

RUFY1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	RUFY1	Q96T51	TXNDC17	Homo sapiens	Q9BRA2	Y2H Prey Pooling	25416956
Intra	RUFY1	Q96T51	TXNDC17	Homo sapiens	Q9BRA2	Y2H Array	25416956
Intra	RUFY1	Q96T51	PIAS2	Homo sapiens	O75928	Pull Down	21988832
Intra	RUFY1	Q96T51	UTP25	Homo sapiens	Q68CQ4	Y2H Array	29892012
Intra	RUFY1	Q96T51	UTP25	Homo sapiens	Q68CQ4	Y2H Array	31515488
Intra	RUFY1	Q96T51	UTP25	Homo sapiens	Q68CQ4	Validated Y2H	25416956
Intra	RUFY1	Q96T51	RAB3IP	Homo sapiens	Q96QF0	Y2H Prey Pooling	25416956
Intra	RUFY1	Q96T51	RAB3IP	Homo sapiens	Q96QF0	Validated Y2H	25416956
Intra	RUFY1	Q96T51	RAB3IP	Homo sapiens	Q96QF0	Y2H Array	25416956
Intra	RUFY1	Q96T51	RAB39B	Homo sapiens	Q96DA2	Y2H Array	25416956
Intra	RUFY1	Q96T51	RAB39B	Homo sapiens	Q96DA2	Y2H Array	31515488
Intra	RUFY1	Q96T51	RAB39B	Homo sapiens	Q96DA2	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Hereditary Spastic Paraplegia 72

Autosomal Spastic Paraplegia Type 72	Spg72
Spastic Paraplegia 72, Autosomal Recessive

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12344	RUFY1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RUFY1	VGNC	VGNC:110435
Felis catus	RUFY1	VGNC	VGNC:64818
Bos taurus	RUFY1	VGNC	VGNC:106908
Canis familiaris	RUFY1	VGNC	VGNC:45803
Mus musculus	RUFY1	MGD	MGI:2429762
Rattus norvegicus	RUFY1	RGD	RGD:1305099

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