DPH3 - diphthamide biosynthesis 3 Gene

中文名称：双苯二甲胺生物合成 3

种属: Homo sapiens

同用名: DESR1; DPH3A; KTI11; ZCSL2; DELGIP; DELGIP1

基因 ID: 285381 | 基因类型: protein coding

关于 DPH3

Cytogenetic location: 3p25.1 Genomic coordinates (GRCh38): 3:16,257,061-16,264,943 (from NCBI)

This gene has 4 transcripts (splice variants) and 204 orthologues. Ubiquitous expression in thyroid (RPKM 7.2), small intestine (RPKM 6.5) and 25 other tissues.

功能概要

该基因编码一种含 CSL 锌指的蛋白质，该蛋白质是联苯胺生物合成所必需的。编码的蛋白质对于将延伸因子 2 中的组氨酸残基修饰为二苯甲酰胺的初始步骤是必需的。这种修饰的残基是细菌毒素白喉毒素和假单胞菌外毒素 A 进行 ADP 核糖基化的目标。可变剪接导致编码相同亚型的多个转录变体。[RefSeq 提供，2009 年 2 月]

This gene encodes a CSL zinc finger-containing protein that is required for dipthamide biosynthesis. The encoded protein is necessary for the initial step in the modification of a histidine residue in elongation factor-2 to diphthamide. This modified residue is a target for ADP ribosylation by the Bacterial toxins diphtheria toxin and Pseudomonas exotoxin A. Alternative splicing results in multiple transcript variants that encode the same isoform. [provided by RefSeq, Feb 2009]

DPH3 基因产物(2)

mRNA	Protein	Name
NM_001047434.3	NP_001040899.1	diphthamide biosynthesis protein 3 isoform 2
NM_206831.3	NP_996662.1	diphthamide biosynthesis protein 3 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	14980502	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in negative regulation of protein secretion	IDA IDA: 通过直接分析推断	14980502	GOA
involved in positive regulation of binding	IDA IDA: 通过直接分析推断	14980502	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cytoplasm	IDA IDA: 通过直接分析推断	14980502	GOA
located in nucleus	IDA IDA: 通过直接分析推断	14980502	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

DPH3 蛋白结构

zf-CSL

0
82 a.a.

蛋白主名

其他名称

diphthamide biosynthesis protein 3

CSL-type zinc finger-containing protein 2

DPH3 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	DPH3	Q96FX2	PIH1D2	Homo sapiens	Q8WWB5	Y2H Array	32296183
种属内	DPH3	Q96FX2	PIH1D2	Homo sapiens	Q8WWB5	Y2H Prey Pooling	32296183
种属内	DPH3	Q96FX2	ZNF438	Homo sapiens	Q7Z4V0	Y2H Prey Pooling	32296183
种属内	DPH3	Q96FX2	ZNF438	Homo sapiens	Q7Z4V0	Y2H Array	32296183
种属内	DPH3	Q96FX2	MEOX2	Homo sapiens	Q6FHY5	Y2H Array	32296183
种属内	DPH3	Q96FX2	MEOX2	Homo sapiens	Q6FHY5	Y2H Prey Pooling	32296183
种属内	DPH3	Q96FX2	SERGEF	Homo sapiens	Q9UGK8	Y2H Prey Pooling	32296183
种属内	DPH3	Q96FX2	SERGEF	Homo sapiens	Q9UGK8	Validated Y2H	32296183
种属内	DPH3	Q96FX2	SERGEF	Homo sapiens	Q9UGK8	Y2H Array	32296183
种属内	DPH3	Q96FX2	SERGEF	Homo sapiens	Q9UGK8	Anti Tag CoIP	33961781
种属内	DPH3	Q96FX2	SERGEF	Homo sapiens	Q9UGK8	Anti Tag CoIP	14980502
种属内	DPH3	Q96FX2	SERGEF	Homo sapiens	Q9UGK8	Anti Tag CoIP	28514442

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

Diphtheria

Corynebacterium Infections	Corynebacterium Infection
Diphtherial Infection	Infection Due To Corynebacterium Diphtheriae

Melanoacanthoma

Dermatosis Papulosa Nigra

Keratosis, Seborrheic

Seborrheic Keratosis	Keratosis, Seborrheic, Somatic
Basal Cell Papilloma	Keratosis Seborrheica
KERSEB

Hyperlipoproteinemia, Type Iii

Hyperlipoproteinemia Type Iii	Broad-Betalipoproteinemia
Floating-Betalipoproteinemia	Familial Type 3 Hyperlipoproteinemia
Broad Beta Disease	Familial Hyperbeta- And Prebetalipoproteinemia
Familial Hypercholesterolemia With Hyperlipemia	Hyperlipemia With Familial Hypercholesterolemic Xanthomatosis
Coronary Artery Disease, Severe, Susceptibility To	Coronary Artery Disease, Severe
Hyperlipidemia Type 3	Familial Dysbetalipoproteinemia
Hyperlipoproteinemia Type 3	Coronary Artery Disease
Apolipoprotein E, Deficiency Or Defect Of	Dysbetalipoproteinemia Due To Defect In Apolipoprotein E-D
Carbohydrate Induced Hyperlipemia	Familial Hypercholesterolaemia With Hyperlipaemia
Remnant Hyperlipidemia	Remnant Removal Disease
Dysbetalipoproteinemia	Broad-Beta Disease
Familial Dyslipidemia Type 3	Hlp Type 3
Remnant Hyperlipoproteinemia	Familial Hyperlipoproteinemia Type Iii
CAD	Hyperlipoproteinemia 3
HLPP3	Deficiency Or Defect Of Apolipoprotein E
Dysbetalipoproteinemia Due To Defect In Apolipoprotein E	Coronary Arteriosclerosis
Coronary Heart Disease

Acanthoma

Basal Cell Nevus Syndrome

Nevoid Basal Cell Carcinoma Syndrome	Gorlin Syndrome
Nbccs	BCNS
Gorlin-Goltz Syndrome	Multiple Basal Cell Nevi, Odontogenic Keratocysts, And Skeletal Anomalies
Cerebral Gigantism Jaw Cysts	Cramer Niederdellmann Syndrome
Gorlin Syndrome Or Gorlin-Goltz Syndrome	Naevoid Basal Cell Carcinoma Syndrome

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome	Mds
MDLS	Miller Dieker Syndrome
Classical Lissencephaly Syndrome	Lissencephaly Due To 17p13.3 Deletion
Monosomy 17p13.3	Telomeric Deletion 17p
Classical Lissencephaly

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy	Benign Rolandic Epilepsy
Epilepsy, Rolandic	Bcects
Benign Childhood Epilepsy With Centrotemporal Spike	Sylvan Seizures
Becrs	Bects
Bre	Benign Epilepsy Of Childhood With Centrotemporal Spikes
Benign Familial Epilepsy Of Childhood With Rolandic Spikes	Centrotemporal Epilepsy

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-RS03954	DPH3 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Canis familiaris	DPH3	VGNC	VGNC:52874
Rattus norvegicus	DPH3	RGD	RGD:1590566
Bos taurus	DPH3	VGNC	VGNC:53537
Mus musculus	DPH3	MGD	MGI:1922658
Macaca mulatta	DPH3	VGNC	VGNC:84189

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