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WDFY1 WD repeat and FYVE domain containing 1 [ Homo sapiens (human) ]

Gene ID: 57590, updated on 1-Jun-2020

Summary

Official Symbol
WDFY1provided by HGNC
Official Full Name
WD repeat and FYVE domain containing 1provided by HGNC
Primary source
HGNC:HGNC:20451
See related
Ensembl:ENSG00000085449 MIM:618080
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
WDF1; FENS1; FENS-1; ZFYVE17
Summary
The protein encoded by this gene is a phosphatidylinositol 3-phosphate binding protein, which contains a FYVE zinc finger domain and multiple WD-40 repeat domains. When exogenously expressed, it localizes to early endosomes. Mutagenesis analysis demonstrates that this endosomal localization is mediated by the FYVE domain. [provided by RefSeq, Jan 2015]
Expression
Ubiquitous expression in bone marrow (RPKM 20.9), thyroid (RPKM 16.4) and 25 other tissues See more
Orthologs

Genomic context

See WDFY1 in Genome Data Viewer
Location:
2q36.1
Exon count:
12
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (223875348..223945335, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (224740065..224810104, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene MLX pseudogene 1 Neighboring gene adaptor related protein complex 1 subunit sigma 3 Neighboring gene general transcription factor IIIA pseudogene 3 Neighboring gene mitochondrial ribosomal protein L44 Neighboring gene serpin family E member 2

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

Gene Ontology Provided by GOA

Function Evidence Code Pubs
1-phosphatidylinositol binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
PubMed 
early endosome IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
WD repeat and FYVE domain-containing protein 1
Names
FYVE domain-containing protein localized to endosomes 1
WD40- and FYVE domain-containing protein 1
phosphoinositide-binding protein SR1
zinc finger FYVE domain-containing protein 17

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_020830.5NP_065881.1  WD repeat and FYVE domain-containing protein 1

    See identical proteins and their annotated locations for NP_065881.1

    Status: REVIEWED

    Source sequence(s)
    AC073641, AJ310568, AK022888, AK023415, BU682241
    Consensus CDS
    CCDS33387.1
    UniProtKB/Swiss-Prot
    Q8IWB7
    UniProtKB/TrEMBL
    A0A024R488, Q9H8N9
    Related
    ENSP00000233055.4, ENST00000233055.9
    Conserved Domains (3) summary
    cd15756
    Location:279354
    FYVE_WDFY1; FYVE domain found in WD40 repeat and FYVE domain-containing protein 1 (WDFY1) and similar proteins
    sd00039
    Location:117154
    7WD40; WD40 repeat [structural motif]
    cl25539
    Location:16272
    WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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
    223875348..223945335 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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