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

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; AllianceGenome:HGNC:20451
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: mouse all
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Genomic context

Location:: 2q36.1

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (223875348..223945335, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (224358556..224428591, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (224740065..224810052, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

NRP2 inhibits WDFY1 transcription by preventing the nuclear localization of a transcription factor, Fetal ALZ50-reactive clone 1 (FAC1).
Title: NRP2 transcriptionally regulates its downstream effector WDFY1.
WDFY1 mediates TLR3/TLR4 signaling by recruiting TRIF.
Title: WDFY1 mediates TLR3/4 signaling by recruiting TRIF.

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

MARC_16705-16706:1018020718:3 (e-PCR)
- UniSTS:268080

WI-11505 (e-PCR)
- UniSTS:41811

RH118856 (e-PCR)
- UniSTS:138838

WDFY1__5083 (e-PCR)
- UniSTS:466556

WI-12299 (e-PCR)
- UniSTS:82583

RH103891 (e-PCR)
- UniSTS:98216

SGC33461 (e-PCR)
- UniSTS:5071

Gene Ontology Provided by GOA

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

Process	Evidence Code	Pubs
involved_in positive regulation of toll-like receptor 3 signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of toll-like receptor 3 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of toll-like receptor 4 signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of toll-like receptor 4 signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
located_in cell junction	IDA Inferred from Direct Assay more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
is_active_in early endosome	IBA Inferred from Biological aspect of Ancestor more info
located_in early endosome	IDA Inferred from Direct Assay more info	PubMed
located_in intracellular membrane-bounded organelle	IDA Inferred from Direct Assay more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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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)

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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)

NM_020830.5 → NP_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

Q53S17, Q8IWB7, Q9H9D5, Q9P2B3

UniProtKB/TrEMBL

E7EML6, Q9H8N9

Related

ENSP00000233055.4, ENST00000233055.9

Conserved Domains (3) summary

cd15756
Location:279 → 354

FYVE_WDFY1; FYVE domain found in WD40 repeat and FYVE domain-containing protein 1 (WDFY1) and similar proteins

sd00039
Location:117 → 154

7WD40; WD40 repeat [structural motif]

cl25539
Location:16 → 272

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 ...