RUFY1 RUN and FYVE domain containing 1

Gene ID: 80230, updated on 10-Oct-2024
Gene type: protein coding
Also known as: RABIP4; ZFYVE12

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Genome-wide association analysis of eating disorder-related symptoms, behaviors, and personality traits. GeneReviews: Not available

Genomic context

Location:: 5q35.3

Sequence:: Chromosome: 5; NC_000005.10 (179550554..179610012)

Total number of exons:: 25

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for RUFY1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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