PIH1D1 - PIH1 domain containing 1 Gene

中文名称：含 PIH1 域 1

种属: Homo sapiens

同用名: Pih1; MOT48; NOP17; DNAAF14

基因 ID: 55011 | 基因类型: protein coding

关于 PIH1D1

Cytogenetic location: 19q13.33 Genomic coordinates (GRCh38): 19:49,446,298-49,451,814 (from NCBI)

This gene has 24 transcripts (splice variants), 175 orthologues and 2 paralogues. Ubiquitous expression in placenta (RPKM 13.7), lymph node (RPKM 13.6) and 25 other tissues.

功能概要

启用多种功能，包括 RNA 聚合酶 I 核心启动子序列特异性 DNA 结合活性；酶结合活性；和磷蛋白结合活性。参与了多个过程，包括 box C/D snoRNP assembly；信号转导的正调控；和调节细胞蛋白质代谢过程。位于细胞质和核仁中。 R2TP 复合体和 pre-snoRNP 复合体的一部分。 [由基因组资源联盟提供，2022 年 4 月]

Enables several functions, including RNA polymerase I core promoter sequence-specific DNA binding activity; Enzyme binding activity; and phosphoprotein binding activity. Involved in several processes, including box C/D snoRNP assembly; positive regulation of signal transduction; and regulation of cellular protein metabolic process. Located in cytoplasm and nucleolus. Part of R2TP complex and pre-snoRNP complex. [provided by Alliance of Genome Resources, Apr 2022]

PIH1D1 基因产物(1)

mRNA	Protein	Name
NM_017916.3	NP_060386.1	PIH1 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 ATPase binding	IPI IPI: 通过物理相互作用推断	17636026	GOA
NOT enables RNA polymerase I cis-regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	22368283	GOA
enables histone binding	IPI IPI: 通过物理相互作用推断	22368283	GOA
enables histone reader activity	IMP IMP: 通过突变表型推断	22368283	GOA
enables phosphoprotein binding	IPI IPI: 通过物理相互作用推断	20864032	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	16189514	GOA
enables protein kinase binding	IPI IPI: 通过物理相互作用推断	24036451	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in TORC1 complex assembly	IDA IDA: 通过直接分析推断	24036451	GOA
involved in box C/D snoRNP assembly	IMP IMP: 通过突变表型推断	17636026	GOA
involved in chromatin remodeling	IMP IMP: 通过突变表型推断	22368283	GOA
involved in epithelial cell differentiation	IEP IEP: 通过表达模式推断	21492153	GOA
involved in negative regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IMP IMP: 通过突变表型推断	21078300	GOA
involved in positive regulation of TORC1 signaling	IMP IMP: 通过突变表型推断	24036451	GOA
involved in positive regulation of glucose mediated signaling pathway	IMP IMP: 通过突变表型推断	22368283	GOA
involved in positive regulation of protein serine/threonine kinase activity	IMP IMP: 通过突变表型推断	24036451	GOA
involved in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IGI IGI: 通过遗传相互作用推断	22368283	GOA
involved in positive regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP IMP: 通过突变表型推断	22368283	GOA
NOT involved in regulation of TORC2 signaling	IMP IMP: 通过突变表型推断	24036451	GOA
involved in snoRNA localization	IMP IMP: 通过突变表型推断	17636026	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of R2TP complex	IDA IDA: 通过直接分析推断	21078300	GOA
part of R2TP complex	IPI IPI: 通过物理相互作用推断	29662061	GOA
part of RPAP3/R2TP/prefoldin-like complex	IPI IPI: 通过物理相互作用推断	31738558	GOA
located in cytoplasm	IDA IDA: 通过直接分析推断	22368283	GOA
located in nucleolus	IDA IDA: 通过直接分析推断	22368283	GOA
located in nucleus	IDA IDA: 通过直接分析推断	22368283	GOA
part of pre-snoRNP complex	IDA IDA: 通过直接分析推断	17636026	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

PIH1D1 蛋白结构

PIH1

0
100
200
290 a.a.

蛋白主名

其他名称

PIH1 domain-containing protein 1

dynein axonemal assembly factor 14

PIH1D1 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	PIH1D1	Q9NWS0	TELO2	Homo sapiens	Q9Y4R8	Anti Tag CoIP	24656813
种属内	PIH1D1	Q9NWS0	TELO2	Homo sapiens	Q9Y4R8	X-Ray Diffraction	24656813
种属内	PIH1D1	Q9NWS0	TELO2	Homo sapiens	Q9Y4R8	ITC	24656813
种属内	PIH1D1	Q9NWS0	RCOR3	Homo sapiens	Q9P2K3-2	Validated Y2H	32296183
种属间	PIH1D1	Q9NWS0	Ruvbl1	Mus musculus	P60122	Pull Down	17636026
种属内	PIH1D1	Q9NWS0	ECD	Homo sapiens	O95905	ITC	24656813
种属内	PIH1D1	Q9NWS0	ECD	Homo sapiens	O95905	Anti Bait CoIP	26711270
种属内	PIH1D1	Q9NWS0	RPAP2	Homo sapiens	Q8IXW5	Anti Tag CoIP	33961781
种属内	PIH1D1	Q9NWS0	RPAP2	Homo sapiens	Q8IXW5	Anti Tag CoIP	24656813
种属内	PIH1D1	Q9NWS0	FARP1	Homo sapiens	Q9Y4F1	Validated Y2H	32296183
种属内	PIH1D1	Q9NWS0	TSC22D4	Homo sapiens	Q9Y3Q8	Y2H Pooling	16189514
种属内	PIH1D1	Q9NWS0	RBPMS	Homo sapiens	Q93062	Y2H Array	25416956

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

Ciliary Dyskinesia, Primary, 38

CILD38	Ciliary Dyskinesia, Primary, 38, With Or Without Situs Inversus
Primary Ciliary Dyskinesia 38	Primary Ciliary Dyskinesia 38 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 28

Primary Ciliary Dyskinesia 28	CILD28
Primary Ciliary Dyskinesia 28 With Or Without Situs Inversus	Ciliary Dyskinesia, Primary, 28, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 28, Without Situs Inversus	Dyskinesia, Ciliary, Primary, 28

Coffin-Siris Syndrome 3

CSS3	Mrd15
Mental Retardation, Autosomal Dominant 15	Autosomal Dominant Mental Retardation 15
Coffin-Siris Syndrome, Type 3

Primary Ciliary Dyskinesia

Immotile Cilia Syndrome	Kartagener Syndrome
Dextrocardia Bronchiectasis And Sinusitis	Pcd
Ciliary Motility Disorders	Ciliary Motility Disorder
Immotile Ciliary Syndrome	Ciliary Dyskinesia Primary
Ics	Polynesian Bronchiectasis
Dextrocardia-Bronchiectasis-Sinusitis Syndrome	Immotile Cilia Syndrome, Kartagener Type
Primary Ciliary Dyskinesia And Situs Inversus	Primary Ciliary Dyskinesia, Kartagener Type
Siewert Syndrome	Dyskinesia, Ciliary, Primary

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-RS10509	PIH1D1 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	PIH1D1	VGNC	VGNC:75868
Mus musculus	PIH1D1	MGD	MGI:1916095
Bos taurus	PIH1D1	VGNC	VGNC:32883
Felis catus	PIH1D1	VGNC	VGNC:64173
Canis familiaris	PIH1D1	VGNC	VGNC:44547
Rattus norvegicus	PIH1D1	RGD	RGD:1309809

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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）

PIH1D1 - PIH1 domain containing 1 Gene

关于 PIH1D1

功能概要

PIH1D1 基因产物(1)

PIH1D1 蛋白结构

PIH1D1 蛋白互作信息

关联疾病

直系同源

热门区域

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PIH1D1 - PIH1 domain containing 1 Gene

关于 PIH1D1

功能概要

PIH1D1 基因产物(1)

PIH1D1 蛋白结构

PIH1D1 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