WDFY1 - WD repeat and FYVE domain containing 1 Gene

中文名称：含 WD 重复和 FYVE 结构域 1

种属: Homo sapiens

同用名: WDF1; FENS1; FENS-1; ZFYVE17

基因 ID: 57590 | 基因类型: protein coding

关于 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.

功能概要

该基因编码的蛋白是磷脂酰肌醇 3-磷酸结合蛋白，含有一个 FYVE 锌指结构域和多个 WD-40 重复结构域。当外源表达时，它定位于早期内体。诱变分析表明，这种内体定位是由 FYVE 结构域介导的。[RefSeq 提供，2015 年 1 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables 1-phosphatidylinositol binding	IDA IDA: 通过直接分析推断	11739631	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	25736436	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in positive regulation of toll-like receptor 3 signaling pathway	IMP IMP: 通过突变表型推断	25736436	GOA
involved in positive regulation of toll-like receptor 4 signaling pathway	IMP IMP: 通过突变表型推断	25736436	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytosol	IDA IDA: 通过直接分析推断	11739631	GOA
located in early endosome	IDA IDA: 通过直接分析推断	11739631	GOA
located in nucleus	IDA IDA: 通过直接分析推断	11739631	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

WDFY1 蛋白结构

WD40

FYVE

WD40

0
100
200
300
410 a.a.

蛋白主名

其他名称

WD repeat and FYVE domain-containing protein 1

FYVE domain-containing protein localized to endosomes 1

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS15754	WDFY1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 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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