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RUFY4 RUN and FYVE domain containing 4 [ Homo sapiens (human) ]

Gene ID: 285180, updated on 20-Oct-2020

Summary

Official Symbol
RUFY4provided by HGNC
Official Full Name
RUN and FYVE domain containing 4provided by HGNC
Primary source
HGNC:HGNC:24804
See related
Ensembl:ENSG00000188282
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ZFYVE31
Expression
Broad expression in spleen (RPKM 1.0), lymph node (RPKM 0.6) and 16 other tissues See more
Orthologs

Genomic context

See RUFY4 in Genome Data Viewer
Location:
2q35
Exon count:
15
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (218034934..218090584)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (218899657..218955304)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene tensin 1 Neighboring gene VISTA enhancer hs1764 Neighboring gene TNS1 antisense RNA 1 Neighboring gene C-X-C motif chemokine receptor 2 pseudogene 1 Neighboring gene C-X-C motif chemokine receptor 2 Neighboring gene C-X-C motif chemokine receptor 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ46536

Gene Ontology Provided by GOA

Function Evidence Code Pubs
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol-3-phosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol-3-phosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
autophagosome assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome assembly IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to interleukin-4 IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of macroautophagy IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of macroautophagy IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
autophagosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
autophagosome IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasmic vesicle IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
RUN and FYVE domain-containing protein 4

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_198483.4NP_940885.2  RUN and FYVE domain-containing protein 4

    See identical proteins and their annotated locations for NP_940885.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript but encodes the supported protein. The exon combination of this variant lacks full-length support in human; it is predicted based on alignments of partial human transcripts and homologous transcripts from mouse GeneID:435626.
    Source sequence(s)
    AC124768
    UniProtKB/Swiss-Prot
    Q6ZNE9
    Related
    ENSP00000345900.7, ENST00000344321.8
    Conserved Domains (4) summary
    cd15745
    Location:520562
    FYVE_RUFY4; FYVE-related domain found in RUN and FYVE domain-containing protein 4 (RUFY4) and similar proteins
    cd16269
    Location:477488
    GBP_C; coiled coil [structural motif]
    cl02689
    Location:41163
    RUN; RUN domain
    cl20817
    Location:406503
    GBP_C; Guanylate-binding protein, C-terminal domain

RNA

  1. NR_034176.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes alternate exon structure in the 5' region and lacks an internal exon in the central region, compared to variant 1. This variant is represented as non-coding due to the presence of multiple upstream ORFs that are predicted to interfere with translation of the longest ORF; translation of these upstream ORFs would render the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC010136, AC124768, AK128393, AW452848, BX641664
    Related
    ENST00000457754.6

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    218034934..218090584
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017003897.1XP_016859386.1  RUN and FYVE domain-containing protein 4 isoform X3

  2. XM_017003895.1XP_016859384.1  RUN and FYVE domain-containing protein 4 isoform X1

    Conserved Domains (4) summary
    cd15745
    Location:521563
    FYVE_RUFY4; FYVE-related domain found in RUN and FYVE domain-containing protein 4 (RUFY4) and similar proteins
    cd16269
    Location:478489
    GBP_C; coiled coil [structural motif]
    cl02689
    Location:42164
    RUN; RUN domain
    cl20817
    Location:407504
    GBP_C; Guanylate-binding protein, C-terminal domain
  3. XM_017003896.1XP_016859385.1  RUN and FYVE domain-containing protein 4 isoform X2

    UniProtKB/Swiss-Prot
    Q6ZNE9
    Conserved Domains (4) summary
    cd15745
    Location:520562
    FYVE_RUFY4; FYVE-related domain found in RUN and FYVE domain-containing protein 4 (RUFY4) and similar proteins
    cd16269
    Location:477488
    GBP_C; coiled coil [structural motif]
    cl02689
    Location:41163
    RUN; RUN domain
    cl20817
    Location:406503
    GBP_C; Guanylate-binding protein, C-terminal domain
  4. XM_011511014.2XP_011509316.1  RUN and FYVE domain-containing protein 4 isoform X2

    See identical proteins and their annotated locations for XP_011509316.1

    UniProtKB/Swiss-Prot
    Q6ZNE9
    Conserved Domains (4) summary
    cd15745
    Location:520562
    FYVE_RUFY4; FYVE-related domain found in RUN and FYVE domain-containing protein 4 (RUFY4) and similar proteins
    cd16269
    Location:477488
    GBP_C; coiled coil [structural motif]
    cl02689
    Location:41163
    RUN; RUN domain
    cl20817
    Location:406503
    GBP_C; Guanylate-binding protein, C-terminal domain
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