RUFY1 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
RUFY1
Official Name
RUN and FYVE domain containing 1 [Source:HGNC Symbol;Acc:HGNC:19760]
Ensembl ID
ENSG00000176783
Bio databases IDs NCBI: 80230 Ensembl: ENSG00000176783
Aliases RUN and FYVE domain containing 1
Synonyms 3000002E04Rik, FLJ22251, RABIP4, RUN and FYVE domain containing 1, ZFYVE12
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human RUFY1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • FYVE zinc finger
  • domain involved in Ras-like GTPase signaling
  • SH2-domain binding
  • protein binding activity, bridging
  • leucine zipper domain
  • coiled-coil domain
  • protein binding
  • Calcium binding and coiled-coil domain (CALCOCO1) like
  • identical protein binding
  • SH3-domain binding
  • FYVE domain like superfamily
  • Protein present in Fab1, YOTB, Vac1, and EEA1
  • Family with sequence similarity 184, A and B
  • PHD finger superfamily
  • RUN domain

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • lung carcinoma
  • lung carcinoma process
  • eating disorder
  • peripheral arterial disease
  • herpes zoster
regulated by
role in cell
  • endocytosis by
  • size
  • trafficking in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • microsomal fraction
  • intracellular membrane-bounded organelle
  • endosomes
  • cytosol
  • endosomal membrane
  • nuclear speckles
  • early endosomes
  • cytoplasmic vesicles
  • endocytotic vesicle
  • sorting endosomes
  • cytosolic fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human RUFY1 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • small GTPase mediated signal transduction
  • protein transport
  • regulation of endocytosis
  • early endosome to Golgi transport
  • endosomal vesicle fusion
  • endocytosis

Cellular Component

Where in the cell the gene product is active
  • early endosome membrane
  • endosome
  • cytoplasm
  • nuclear speck
  • intracellular membrane-bounded organelle
  • cytosol

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • metal ion binding
  • lipid binding
  • SH3 domain binding
  • SH2 domain binding
  • protein binding, bridging

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.