WDR4 - WD repeat domain 4 Gene

中文名称：WD 重复域 4

种属: Homo sapiens

同用名: hWH; Wuho; MIGSB; TRM82; GAMOS6; TRMT82

基因 ID: 10785 | 基因类型: protein coding

关于 WDR4

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:42,843,094-42,892,998 (from NCBI)

This gene has 7 transcripts (splice variants), 189 orthologues and is associated with 4 phenotypes. Ubiquitous expression in lymph node (RPKM 3.3), appendix (RPKM 3.2) and 25 other tissues.

功能概要

该基因编码 WD 重复蛋白家族的一个成员。 WD 重复是大约 40 个氨基酸的最小保守区域，通常由 gly-his 和 trp-asp (GH-WD) 括起来，这可能有助于异源三聚体或多蛋白复合物的形成。该家族的成员参与多种细胞过程，包括细胞周期进程、信号转导、细胞凋亡和基因调控。该基因作为一种非综合征性耳聋 (DFNB10) 的候选基因被排除在外，但仍然是映射到 21q22.3 的其他疾病以及唐氏综合症表型发展的候选基因。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2012 年 5 月]

This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 Amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, Apoptosis, and gene regulation. This gene is excluded as a candidate for a form of nonsyndromic deafness (DFNB10), but is still a candidate for other disorders mapped to 21q22.3 as well as for the development of Down syndrome phenotypes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]

WDR4 基因产物(6)

mRNA	Protein	Name
NM_001260474.2	NP_001247403.1	tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 2
NM_001260475.2	NP_001247404.1	tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 3
NM_001260476.2	NP_001247405.1	tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 3
NM_001260477.2	NP_001247406.1	tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 3
NM_018669.6	NP_061139.2	tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 isoform 1
NM_033661.5	NP_387510.1	tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4 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 enzyme activator activity	IDA IDA: 通过直接分析推断	36599982	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15861136	GOA
enables tRNA methyltransferase activator activity	IDA IDA: 通过直接分析推断	36599982	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in tRNA (guanine-N7)-methylation	IDA IDA: 通过直接分析推断	36599982	GOA
involved in tRNA modification	IDA IDA: 通过直接分析推断	15861136	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleus	IDA IDA: 通过直接分析推断	15861136	GOA
part of tRNA (m7G46) methyltransferase complex	IDA IDA: 通过直接分析推断	36599982	GOA
part of tRNA methyltransferase complex	IDA IDA: 通过直接分析推断	12403464	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

WDR4 蛋白结构

WD40

0
100
200
300
412 a.a.

蛋白主名

其他名称

tRNA (guanine-N(7)-)-methyltransferase non-catalytic subunit WDR4

TRM82 tRNA methyltransferase 82 homolog

WDR4 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
Intra	WDR4	P57081	RABGGTB	Homo sapiens	P53611	Y2H Prey Pooling	25416956
Intra	WDR4	P57081	RABGGTB	Homo sapiens	P53611	Y2H Prey Pooling	32296183
Intra	WDR4	P57081	RABGGTB	Homo sapiens	P53611	Y2H Array	25416956
Intra	WDR4	P57081	RABGGTB	Homo sapiens	P53611	Y2H Array	32296183
Intra	WDR4	P57081	FEN1	Homo sapiens	P39748	Pull Down	26751069
Intra	WDR4	P57081	FEN1	Homo sapiens	P39748	Fluorescence Spectr	26751069
Intra	WDR4	P57081	FEN1	Homo sapiens	P39748	Anti Tag CoIP	26751069
Intra	WDR4	P57081	FEN1	Homo sapiens	P39748	Anti Bait CoIP	26751069
Intra	WDR4	P57081	METTL1	Homo sapiens	Q9UBP6	Y2H Prey Pooling	32296183
Intra	WDR4	P57081	METTL1	Homo sapiens	Q9UBP6	Y2H Prey Pooling	25416956
Intra	WDR4	P57081	METTL1	Homo sapiens	Q9UBP6	Validated Y2H	32296183
Intra	WDR4	P57081	METTL1	Homo sapiens	Q9UBP6	Y2H Array	25416956
Intra	WDR4	P57081	METTL1	Homo sapiens	Q9UBP6	Y2H Array	32296183
Intra	WDR4	P57081	METTL1	Homo sapiens	Q9UBP6	Anti Tag CoIP	33961781
Intra	WDR4	P57081	METTL1	Homo sapiens	Q9UBP6	Anti Tag CoIP	26751069
Intra	WDR4	P57081	FAM118A	Homo sapiens	Q9NWS6	Y2H Array	25416956
Intra	WDR4	P57081	FAM118A	Homo sapiens	Q9NWS6	Y2H Array	32296183
Intra	WDR4	P57081	FAM118A	Homo sapiens	Q9NWS6	Validated Y2H	32296183
Intra	WDR4	P57081	FAM118A	Homo sapiens	Q9NWS6	Y2H Prey Pooling	25416956
Intra	WDR4	P57081	FAM118A	Homo sapiens	Q9NWS6	Y2H Prey Pooling	32296183

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

Microcephaly, Growth Deficiency, Seizures, And Brain Malformations

MIGSB

Galloway-Mowat Syndrome 6

GAMOS6

Galloway-Mowat Syndrome

Galloway Mowat Syndrome	Galloway Syndrome
Hiatal Hernia-Microcephaly-Nephrosis, Galloway Type	Microcephaly Nephrosis Syndrome
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Nephrosis Neuronal Dysmigration Syndrome
Microcephaly-Hiatus Hernia-Nephrotic Syndrome	Nephrosis-Neuronal Dysmigration Syndrome

Galloway-Mowat Syndrome 1

Galloway Syndrome	Nephrosis-Neuronal Dysmigration Syndrome
Nephrosis-Microcephaly Syndrome	Camos
Scar5	GAMOS1
Microcephaly, Hiatal Hernia, And Nephrotic Syndrome	Microcephaly, Hiatal Hernia And Nephrotic Syndrome
Cerebellar Ataxia With Mental Retardation, Optic Atrophy, And Skin Abnormalities	Spinocerebellar Ataxia, Autosomal Recessive 5, Formerly
Scar5, Formerly	Spinocerebellar Ataxia Autosomal Recessive 5
Cerebellar Ataxia With Intellectual Disability Optic Atrophy And Skin Abnormalities	Camos Syndrome
Cerebellar Ataxia-Intellectual Disability-Optic Atrophy-Skin Abnormalities Syndrome	Galloway-Mowat Syndrome
Spinocerebellar Ataxia, Autosomal Recessive, 5	Galloway Mowat Syndrome
Spinocerebellar Ataxia, Autosomal Recessive 5

Seckel Syndrome

Microcephalic Primordial Dwarfism	Bird-Headed Dwarfism
Harper'S Syndrome	Virchow-Seckel Dwarfism
Nanocephalic Dwarfism	Sckl
Seckel-Type Dwarfism

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Isolated Growth Hormone Deficiency, Type Ia

Ighd Ia	Primordial Dwarfism
Isolated Growth Hormone Deficiency Type Ia	Sexual Ateleiotic Dwarfism
Pituitary Dwarfism I	IGHD1A
Illig-Type Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, Type Ia
Congenital Ighd Type Ia	Congenital Isolated Gh Deficiency Type Ia
Congenital Isolated Growth Hormone Deficiency Type Ia	Pituitary Dwarfism 1
Growth Hormone Deficiency, Isolated, Autosomal Recessive	Autosomal Recessive Isolated Growth Hormone Deficiency
Isolated Growth Hormone Deficiency Type 1a	Congenital Ighd
Congenital Isolated Gh Deficiency	Congenital Isolated Growth Hormone Deficiency
Growth Hormone Deficiency, Isolated Autosomal Recessive	Illig Type Growth Hormone Deficiency
Non-Acquired Isolated Growth Hormone Deficiency	Growth Hormone Deficiency, Isolated, 1a
Growth Hormone Deficiency Isolated Autosomal Recessive	Dwarfism, Primordial
Dwarfism

Polymicrogyria

Pmg

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Non-Syndromic X-Linked Intellectual Disability

X-Linked Non-Syndromic Intellectual Disability	Non-Specific X-Linked Mental Retardation
X-Linked Non-Specific Intellectual Disability

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-162080	METTL1-WDR4-IN-1	Inhibitor	98.87%	否
HY-162082	METTL1-WDR4-IN-2	Inhibitor	99.71%	否
HY-RS15777	WDR4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Macaca mulatta	WDR4	VGNC	VGNC:81794
Bos taurus	WDR4	VGNC	VGNC:36897
Rattus norvegicus	WDR4	RGD	RGD:1585179
Canis familiaris	WDR4	VGNC	VGNC:48365
Mus musculus	WDR4	MGD	MGI:1889002
Felis catus	WDR4	VGNC	VGNC:67031
Others	WDR4	NCBI

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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）

WDR4 - WD repeat domain 4 Gene

关于 WDR4

功能概要

WDR4 基因产物(6)

WDR4 蛋白结构

WDR4 蛋白互作信息

关联疾病

直系同源

热门区域

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WDR4 - WD repeat domain 4 Gene

关于 WDR4

功能概要

WDR4 基因产物(6)

WDR4 蛋白结构

WDR4 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