WDFY1 - WD repeat and FYVE domain containing 1 Gene

Homo sapiens

Also known as WDF1; FENS1; FENS-1; ZFYVE17

Gene ID: 57590 | Gene type: protein coding

About WDFY1

Cytogenetic location: 2q36.1 Genomic coordinates (GRCh38): 2:223,875,348-223,945,335 (from NCBI)

This gene has 6 transcripts (splice variants), 228 orthologues and 10 paralogues. Ubiquitous expression in bone marrow (RPKM 20.9), thyroid (RPKM 16.4) and 25 other tissues.

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]

WDFY1 Products(1)

mRNA	Protein	Name
NM_020830.5	NP_065881.1	WD repeat and FYVE domain-containing protein 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables 1-phosphatidylinositol binding	IDA IDA: Inferred from direct assay	11739631	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	25736436	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of toll-like receptor 3 signaling pathway	IMP IMP: Inferred from mutant phenotype	25736436	GOA
involved in positive regulation of toll-like receptor 4 signaling pathway	IMP IMP: Inferred from mutant phenotype	25736436	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	11739631	GOA
located in early endosome	IDA IDA: Inferred from direct assay	11739631	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11739631	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

WDFY1 Protein Structure

WD40

FYVE

WD40

0
100
200
300
410 a.a.

Protein Preferred Names

Protein Names

WD repeat and FYVE domain-containing protein 1

FYVE domain-containing protein localized to endosomes 1

Related Diseases

Diseases

Alias

Rett Syndrome, Congenital Variant

Rett Syndrome Congenital Variant

RTTCV

Basan Syndrome

Adermatoglyphia With Congenital Facial Milia And Acral Blisters, Digital Contractures, And Nail Abnormalities	Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes In Nails, And Simian Crease
Baird Syndrome	Absence Of Fingerprints-Congenital Milia Syndrome
Absence Of Fingerprints Congenital Milia	Absence Of Dermatoglyphics Congenital Milia
Absence Of Dermatoglyphics-Congenital Milia Syndrome	Basan-Baird Syndrome
BSNS	Adermatoglyphia, Congenital Facial Milia, Acral Blisters, Digital Contractures, Nail Abnormalities

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS15754	WDFY1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	WDFY1	VGNC	VGNC:48345
Rattus norvegicus	WDFY1	RGD	RGD:1305996
Macaca mulatta	WDFY1	VGNC	VGNC:99421
Bos taurus	WDFY1	VGNC	VGNC:36876
Felis catus	WDFY1	VGNC	VGNC:80402
Mus musculus	WDFY1	MGD	MGI:1916618

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