WDR1 - WD repeat domain 1 Gene

中文名称：WD 重复域 1

种属: Homo sapiens

同用名: AIP1; PFITS; NORI-1; HEL-S-52

基因 ID: 9948 | 基因类型: protein coding

关于 WDR1

Cytogenetic location: 4p16.1 Genomic coordinates (GRCh38): 4:10,074,339-10,116,799 (from NCBI)

This gene has 31 transcripts (splice variants), 211 orthologues and is associated with 1 phenotype. Ubiquitous expression in appendix (RPKM 87.7), endometrium (RPKM 81.4) and 25 other tissues.

功能概要

该基因编码含有 9 个 WD 重复序列的蛋白质。 WD 重复是大约 30 到 40 个氨基酸结构域，包含几个保守残基，主要包括 C 末端的 trp-asp。 WD 结构域参与蛋白质-蛋白质相互作用。编码的蛋白质可能有助于诱导肌动蛋白丝的分解。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2008 年 7 月]

This gene encodes a protein containing 9 WD repeats. WD repeats are approximately 30- to 40-amino acid domains containing several conserved residues, mostly including a trp-asp at the C-terminal end. WD domains are involved in protein-protein interactions. The encoded protein may help induce the disassembly of actin filaments. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

WDR1 基因产物(2)

mRNA	Protein	Name
NM_005112.5	NP_005103.2	WD repeat-containing protein 1 isoform 2
NM_017491.5	NP_059830.1	WD repeat-containing protein 1 isoform 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 protein binding	IPI IPI: 通过物理相互作用推断	30021884	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in apical junction assembly	IDA IDA: 通过直接分析推断	25792565	GOA
involved in maintenance of epithelial cell apical/basal polarity	IDA IDA: 通过直接分析推断	25792565	GOA
involved in regulation of actin filament depolymerization	IDA IDA: 通过直接分析推断	15629458	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cell-cell junction	IDA IDA: 通过直接分析推断	25792565	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

WDR1 蛋白结构

WD40

0
100
200
300
400
500
606 a.a.

蛋白主名

其他名称

WD repeat-containing protein 1

actin-interacting protein 1

WDR1 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	WDR1	O75083	ACTB	Homo sapiens	P60709	Crosslink	30021884

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome

Lazy Leukocyte Syndrome

PFITS

Intellectual Developmental Disorder, Autosomal Dominant 61

MRD61

Mental Retardation, Autosomal Dominant 61

Thrombocytopenia

Low Platelet Count	Low Platelets
Decreased Platelets	Platelet Dysfunction Nos

Familial Cold Autoinflammatory Syndrome 4

FCAS4	Nlrc4-Related Familial Cold Autoinflammatory Syndrome
Nlrc4-Related Familial Cold Urticaria	Autoinflammatory, Cold, Familial, Syndrome, Type 4

Familial Behcet-Like Autoinflammatory Syndrome

Autoinflammatory Syndrome, Familial, Behcet-Like

A20 Haploinsufficiency

Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia

Platelet Abnormalities With Eosinophilia And Immune-Mediated Inflammatory Disease	IMD71
Plteid	Immunodeficiency 71

Immunodeficiency 31a

Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Stat1 Deficiency	IMD31A
Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant	Stat1 Deficiency, Autosomal Dominant
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Signal Transducer And Activator Of Transcription 1 Deficiency	Msmd Due To Partial Signal Transducer And Activator Of Transcription 1 Deficiency
Msmd Due To Partial Stat1 Deficiency	Autosomal Dominant Immunodeficiency 31a, Mycobacteriosis
Immunodeficiency, Type 31a, Mycobacteriosis, Autosomal Dominant

Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne

Papa Syndrome	Fra
Familial Recurrent Arthritis	Pyogenic Arthritis, Pyoderma Gangrenosum And Acne
PAPAS	Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Pyogenic Arthritis, Pyoderma Gangrenosum, And Severe Cystic Acne	Pyogenic Sterile Arthritis, Pyoderma Gangrenosum And Acne

Familial Cold Autoinflammatory Syndrome 2

FCAS2	Nlrp12-Associated Hereditary Periodic Fever Syndrome
Familial Cold Autoinflammatory Syndrome Type 2	Familial Cold-Induced Autoinflammatory Syndrome Type 2
Naps12	Familial Cold Autoinflammatory Syndrome 2, Susceptibility To
Autoinflammatory Syndrome, Cold, Familial, Type 2

Immunodeficiency 31c

IMD31C	Candidiasis, Familial, 7
Candf7	Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune Enteropathy And Endocrinopathy - Susceptibility To Chronic Infections Syndrome
Immunodeficiency 31c, Chronic Mucocutaneous Candidiasis, Autosomal Dominant	Autosomal Dominant Chronic Mucocutaneous Familial Candidiasis
Autosomal Dominant Immunodeficiency 31c	Familial Candidiasis 7
Chronic Mucocutaneous Candidiasis 7	Immunodeficiency 31c, Autosomal Dominant
Immunodeficiency, Type 31c, Autosomal Dominant

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-RS15760	WDR1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Rattus norvegicus	WDR1	RGD	RGD:1305789
Canis familiaris	WDR1	VGNC	VGNC:48349
Mus musculus	WDR1	MGD	MGI:1337100
Felis catus	WDR1	VGNC	VGNC:67013
Macaca mulatta	WDR1	VGNC	VGNC:78788
Bos taurus	WDR1	VGNC	VGNC:36880

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

WDR1 - WD repeat domain 1 Gene

关于 WDR1

功能概要

WDR1 基因产物(2)

WDR1 蛋白结构

WDR1 蛋白互作信息

关联疾病

直系同源

热门区域

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WDR1 - WD repeat domain 1 Gene

关于 WDR1

功能概要

WDR1 基因产物(2)

WDR1 蛋白结构

WDR1 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z