DHDDS - dehydrodolichyl diphosphate synthase subunit Gene

中文名称：脱氢长烷基二磷酸合酶亚单位

种属: Homo sapiens

同用名: DS; CIT; CPT; HDS; RP59; hCIT; DEDSM

基因 ID: 79947 | 基因类型: protein coding

关于 DHDDS

Cytogenetic location: 1p36.11 Genomic coordinates (GRCh38): 1:26,432,321-26,471,306 (from NCBI)

This gene has 34 transcripts (splice variants), 211 orthologues and is associated with 6 phenotypes. Ubiquitous expression in fat (RPKM 22.0), colon (RPKM 11.7) and 24 other tissues.

功能概要

由该基因编码的蛋白质催化顺式-异戊二烯链伸长以产生多萜醇的聚异戊二烯主链，多萜醇是几类糖蛋白生物合成所需的糖基载体脂质。该基因的突变与 59 型视网膜色素变性相关。编码不同亚型的选择性剪接转录物变体已被描述为该基因。[RefSeq 提供，2011 年 8 月]

The protein encoded by this gene catalyzes cis-prenyl chain elongation to produce the polyprenyl backbone of dolichol, a glycosyl carrier lipid required for the biosynthesis of several classes of glycoproteins. Mutations in this gene are associated with retinitis pigmentosa type 59. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]

DHDDS 基因产物(5)

mRNA	Protein	Name
NM_001243564.2	NP_001230493.1	dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 3
NM_001243565.2	NP_001230494.1	dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 4
NM_001319959.2	NP_001306888.1	dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 5
NM_024887.4	NP_079163.2	dehydrodolichyl diphosphate synthase complex subunit DHDDS isoform 2
NM_205861.3	NP_995583.1	dehydrodolichyl diphosphate synthase complex subunit DHDDS 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
contributes to dehydrodolichyl diphosphate synthase activity	IDA IDA: 通过直接分析推断	28842490	GOA
enables dehydrodolichyl diphosphate synthase activity	IDA IDA: 通过直接分析推断	33077723	GOA
contributes to polyprenyltransferase activity	IDA IDA: 通过直接分析推断	25066056	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	15110773	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in dolichyl diphosphate biosynthetic process	IDA IDA: 通过直接分析推断	28842490	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
part of dehydrodolichyl diphosphate synthase complex	IDA IDA: 通过直接分析推断	28842490	GOA
part of dehydrodolichyl diphosphate synthase complex	IPI IPI: 通过物理相互作用推断	32817466	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

DHDDS 蛋白结构

Prenyltransf

0
100
200
300
333 a.a.

蛋白主名

其他名称

dehydrodolichyl diphosphate synthase complex subunit DHDDS

cis-IPTase

DHDDS 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	DHDDS	Q86SQ9	NUS1	Homo sapiens	Q96E22	Anti Tag CoIP	33961781
种属内	DHDDS	Q86SQ9	NUS1	Homo sapiens	Q96E22	X-Ray Diffraction	32817466
种属内	DHDDS	Q86SQ9	NUS1	Homo sapiens	Q96E22	GMS	32817466
种属内	DHDDS	Q86SQ9	NUS1	Homo sapiens	Q96E22	Anti Tag CoIP	32817466

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

Retinitis Pigmentosa 59

RP59	Congenital Disorder Of Glycosylation, Type 1bb
Congenital Disorder Of Glycosylation 1bb	CDG1BB
Retinitis Pigmentosa, Type 59

Developmental Delay And Seizures With Or Without Movement Abnormalities

DEDSM

Developmental Delay And Seizures, With/Without Movement Abnormalities

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy	Non-Specific Eoee
Undetermined Eoee

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Congenital Disorder Of Glycosylation, Type Im

Dolichol Kinase Deficiency	CDG1M
Dk1 Deficiency	Cdg Im
Cdgim	Congenital Disorder Of Glycosylation Im
Congenital Disorder Of Glycosylation 1m	Dolk-Congenital Disorder Of Glycosylation
Dk1-Cdg	Cdg-Im
Congenital Disorder Of Glycosylation Type Im	Cdg Syndrome Type Im
Carbohydrate Deficient Glycoprotein Syndrome Type Im	Congenital Disorder Of Glycosylation Type 1m
Hypotonia And Ichthyosis Due To Dolichol Phosphate Deficiency	Glycosylation, Congenital Disorder Of, Type Im

Phosphoglycerate Dehydrogenase Deficiency

Phgdh Deficiency	3-Phosphoglycerate Dehydrogenase Deficiency
PHGDHD	3-Pgdh Deficiency
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Phgdh Deficiency, Infantile/Juvenile Form
Deficiency, Phosphoglycerate Dehydrogenase

Coenzyme Q10 Deficiency, Primary, 9

COQ10D9

Primary Coenzyme Q10 Deficiency 9

Congenital Disorder Of Glycosylation, Type Iin

CDG2N	Slc39a8-Cdg
Cdg Iin	Congenital Disorder Of Glycosylation Type Iin
Cdgiin	Carbohydrate Deficient Glycoprotein Syndrome Type Iin
Cdg Syndrome Type Iin	Congenital Disorder Of Glycosylation Type 2n
Cdg-Iin	Cdgiidn
Slc39a8 Deficiency	Congenital Disorder Of Glycosylation 2n
Glycosylation, Congenital Disorder Of, Type Iin

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Familial Adult Myoclonic Epilepsy

Benign Adult Familial Myoclonus Epilepsy	Bafme
Benign Adult Familial Myoclonic Epilepsy	Fame
Familial Cortical Myoclonic Tremor And Epilepsy	Fcmte
Adcme	Autosomal Dominant Cortical Myoclonus And Epilepsy
Fam	Epilepsy, Myoclonic, Familial Adult
Epilepsy, Myoclonic, Benign Adult Familial, Type 2

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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-RS03728	DHDDS 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	DHDDS	VGNC	VGNC:39928
Felis catus	DHDDS	VGNC	VGNC:61467
Macaca mulatta	DHDDS	VGNC	VGNC:71686
Mus musculus	DHDDS	MGD	MGI:1914672
Rattus norvegicus	DHDDS	RGD	RGD:1311560
Bos taurus	DHDDS	VGNC	VGNC:28035

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站点地图隐私声明

沪ICP备15051369号-4

上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

DHDDS - dehydrodolichyl diphosphate synthase subunit Gene

关于 DHDDS

功能概要

DHDDS 基因产物(5)

DHDDS 蛋白结构

DHDDS 蛋白互作信息

关联疾病

直系同源

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DHDDS - dehydrodolichyl diphosphate synthase subunit Gene

关于 DHDDS

功能概要

DHDDS 基因产物(5)

DHDDS 蛋白结构

DHDDS 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