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Aliases for RUFY1 Gene

Aliases for RUFY1 Gene

  • RUN And FYVE Domain Containing 1 2 3 5
  • Zinc Finger FYVE Domain-Containing Protein 12 3 4
  • Rab4-Interacting Protein 3 4
  • FYVE-Finger Protein EIP1 3 4
  • La-Binding Protein 1 3 4
  • ZFYVE12 3 4
  • RABIP4 3 4

External Ids for RUFY1 Gene

Previous GeneCards Identifiers for RUFY1 Gene

  • GC00U990921
  • GC05P179802
  • GC05P179045
  • GC05P179090
  • GC05P178910
  • GC05P178977
  • GC05P173702

Summaries for RUFY1 Gene

Entrez Gene Summary for RUFY1 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 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]

GeneCards Summary for RUFY1 Gene

RUFY1 (RUN And FYVE Domain Containing 1) is a Protein Coding gene. Among its related pathways are Endocytosis. GO annotations related to this gene include lipid binding and protein transporter activity. An important paralog of this gene is RUFY2.

UniProtKB/Swiss-Prot for RUFY1 Gene

  • Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking.

Gene Wiki entry for RUFY1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for RUFY1 Gene

Genomics for RUFY1 Gene

Regulatory Elements for RUFY1 Gene

Promoters for RUFY1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around RUFY1 on UCSC Golden Path with GeneCards custom track

Genomic Location for RUFY1 Gene

Chromosome:
5
Start:
179,550,558 bp from pter
End:
179,610,026 bp from pter
Size:
59,469 bases
Orientation:
Plus strand

Genomic View for RUFY1 Gene

Genes around RUFY1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RUFY1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RUFY1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RUFY1 Gene

Proteins for RUFY1 Gene

  • Protein details for RUFY1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96T51-RUFY1_HUMAN
    Recommended name:
    RUN and FYVE domain-containing protein 1
    Protein Accession:
    Q96T51
    Secondary Accessions:
    • Q59FF3
    • Q71S93
    • Q9H6I3

    Protein attributes for RUFY1 Gene

    Size:
    708 amino acids
    Molecular mass:
    79818 Da
    Quaternary structure:
    • Interacts with BMX. May interact with SSB. Interacts with RAB4 and RAB5 that have been activated by GTP-binding.
    SequenceCaution:
    • Sequence=AAK50771.1; Type=Frameshift; Positions=47, 88; Evidence={ECO:0000305}; Sequence=BAB15276.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for RUFY1 Gene

    Alternative splice isoforms for RUFY1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for RUFY1 Gene

Proteomics data for RUFY1 Gene at MOPED

Post-translational modifications for RUFY1 Gene

  • Phosphorylation on Tyr-389 and/or Tyr-400 is required for interaction with BMX and endosomal targeting.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for RUFY1 Gene

Domains & Families for RUFY1 Gene

Gene Families for RUFY1 Gene

Suggested Antigen Peptide Sequences for RUFY1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96T51

UniProtKB/Swiss-Prot:

RUFY1_HUMAN :
  • The FYVE-type zinc finger domain mediates interactions with phosphatidylinositol 3-phosphate in membranes of early endosomes and penetrates bilayers. The FYVE domain insertion into PtdIns(3)P-enriched membranes is substantially increased in acidic conditions.
  • Contains 1 FYVE-type zinc finger.
Domain:
  • The FYVE-type zinc finger domain mediates interactions with phosphatidylinositol 3-phosphate in membranes of early endosomes and penetrates bilayers. The FYVE domain insertion into PtdIns(3)P-enriched membranes is substantially increased in acidic conditions.
  • Contains 1 RUN domain.
Similarity:
  • Contains 1 FYVE-type zinc finger.
genes like me logo Genes that share domains with RUFY1: view

Function for RUFY1 Gene

Molecular function for RUFY1 Gene

UniProtKB/Swiss-Prot Function:
Binds phospholipid vesicles containing phosphatidylinositol 3-phosphate and participates in early endosomal trafficking.

Gene Ontology (GO) - Molecular Function for RUFY1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21988832
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with RUFY1: view
genes like me logo Genes that share phenotypes with RUFY1: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for RUFY1 Gene

Localization for RUFY1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RUFY1 Gene

Cytoplasm. Early endosome membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for RUFY1 Gene COMPARTMENTS Subcellular localization image for RUFY1 gene
Compartment Confidence
endosome 5
nucleus 5
cytosol 4
mitochondrion 1
peroxisome 1
plasma membrane 1

No data available for Gene Ontology (GO) - Cellular Components for RUFY1 Gene

Pathways & Interactions for RUFY1 Gene

SuperPathways for RUFY1 Gene

Superpath Contained pathways
1 Endocytosis
genes like me logo Genes that share pathways with RUFY1: view

Pathways by source for RUFY1 Gene

1 KEGG pathway for RUFY1 Gene

Gene Ontology (GO) - Biological Process for RUFY1 Gene

None

No data available for SIGNOR curated interactions for RUFY1 Gene

Drugs & Compounds for RUFY1 Gene

(1) Drugs for RUFY1 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with RUFY1: view

Transcripts for RUFY1 Gene

Unigene Clusters for RUFY1 Gene

RUN and FYVE domain containing 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for RUFY1 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ^
SP1: - - - - -
SP2: - - - - - - - - -
SP3: - - - - -
SP4: - - - - - - -
SP5: - -
SP6:
SP7:
SP8: - -
SP9: -
SP10:

ExUns: 18a · 18b · 18c ^ 19a · 19b ^ 20a · 20b
SP1: - - -
SP2: - - -
SP3: - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for RUFY1 Gene

GeneLoc Exon Structure for
RUFY1
ECgene alternative splicing isoforms for
RUFY1

Expression for RUFY1 Gene

mRNA expression in normal human tissues for RUFY1 Gene

Protein differential expression in normal tissues from HIPED for RUFY1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.3), Lymph node (11.1), and Lavage (7.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for RUFY1 Gene



SOURCE GeneReport for Unigene cluster for RUFY1 Gene Hs.306769

mRNA Expression by UniProt/SwissProt for RUFY1 Gene

Q96T51-RUFY1_HUMAN
Tissue specificity: Broadly expressed, with highest levels in lung, testis, kidney and brain.
genes like me logo Genes that share expression patterns with RUFY1: view

Protein tissue co-expression partners for RUFY1 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for RUFY1 Gene

Orthologs for RUFY1 Gene

This gene was present in the common ancestor of animals.

Orthologs for RUFY1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia LOC462328 35
  • 98.58 (n)
  • 98.47 (a)
RUFY1 36
  • 96 (a)
OneToOne
cow
(Bos Taurus)
Mammalia RUFY1 36
  • 91 (a)
OneToOne
RUFY1 35
  • 90.28 (n)
  • 92.6 (a)
dog
(Canis familiaris)
Mammalia RUFY1 35
  • 89.58 (n)
  • 91.5 (a)
RUFY1 36
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Rufy1 16
Rufy1 35
  • 87.48 (n)
  • 92.63 (a)
Rufy1 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RUFY1 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia RUFY1 36
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rufy1 35
  • 88.66 (n)
  • 93.49 (a)
chicken
(Gallus gallus)
Aves RUFY1 35
  • 76.06 (n)
  • 80.27 (a)
RUFY1 36
  • 80 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RUFY1 36
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rufy1 35
  • 69.92 (n)
  • 70.41 (a)
Str.16805 35
zebrafish
(Danio rerio)
Actinopterygii RUFY1 36
  • 62 (a)
OneToOne
LOC100330077 35
  • 64.56 (n)
  • 64.46 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG31064 36
  • 27 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.10485 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 44 (a)
OneToMany
Species with no ortholog for RUFY1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RUFY1 Gene

ENSEMBL:
Gene Tree for RUFY1 (if available)
TreeFam:
Gene Tree for RUFY1 (if available)

Paralogs for RUFY1 Gene

Paralogs for RUFY1 Gene

genes like me logo Genes that share paralogs with RUFY1: view

Variants for RUFY1 Gene

Sequence variations from dbSNP and Humsavar for RUFY1 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
VAR_035985 A breast cancer sample
rs6879322 - 179,580,950(+) AGGCA(G/T)GAAAG intron-variant, nc-transcript-variant, reference, missense
rs8087 -- 179,609,607(-) TTGAT(A/T)CTCTT downstream-variant-500B, utr-variant-3-prime
rs4075890 -- 179,570,372(-) ATCCA(A/G)GCTTG intron-variant
rs4700810 -- 179,564,793(+) cagtc(A/G)ttatt intron-variant

Structural Variations from Database of Genomic Variants (DGV) for RUFY1 Gene

Variant ID Type Subtype PubMed ID
dgv1880e1 CNV Complex 17122850
dgv6399n71 CNV Gain 21882294
nsv883270 CNV Loss 21882294
nsv5159 CNV Insertion 18451855
nsv7375 OTHER Inversion 18451855
nsv281 OTHER Inversion 15895083

Variation tolerance for RUFY1 Gene

Residual Variation Intolerance Score: 7.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.11; 38.51% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for RUFY1 Gene

HapMap Linkage Disequilibrium report
RUFY1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RUFY1 Gene

Disorders for RUFY1 Gene

Relevant External Links for RUFY1

Genetic Association Database (GAD)
RUFY1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
RUFY1

No disorders were found for RUFY1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for RUFY1 Gene

Publications for RUFY1 Gene

  1. Interaction between tyrosine kinase Etk and a RUN-domain and FYVE- domain containing protein RUFY1. A possible role of Etk in regulation of vesicle trafficking. (PMID: 11877430) Yang J. … Qiu Y. (J. Biol. Chem. 2002) 2 3 4 67
  2. Temporal proteomics of NGF-TrkA signaling identifies an inhibitory role for the E3 ligase Cbl-b in neuroblastoma cell differentiation. (PMID: 25921289) Emdal K.B. … Olsen J.V. (Sci Signal 2015) 3
  3. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3
  5. A high-throughput approach for measuring temporal changes in the interactome. (PMID: 22863883) Kristensen A.R. … Foster L.J. (Nat. Methods 2012) 3

Products for RUFY1 Gene

Sources for RUFY1 Gene

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