DHX30 - DExH-box helicase 30 Gene

中文名称：DExH-box 解旋酶 30

种属: Homo sapiens

同用名: DDX30; RETCOR; NEDMIAL

基因 ID: 22907 | 基因类型: protein coding

关于 DHX30

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:47,803,138-47,850,193 (from NCBI)

This gene has 15 transcripts (splice variants), 190 orthologues, 18 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 30.7), brain (RPKM 11.0) and 25 other tissues.

功能概要

以保守基序 Asp-Glu-Ala-Asp (DEAD) 为特征的 DEAD 盒蛋白是推定的 RNA 解旋酶。它们涉及许多涉及 RNA 二级结构改变的细胞过程，例如翻译起始、核和线粒体剪接以及核糖体和剪接体组装。根据它们的分布模式，该 DEAD 盒蛋白家族的一些成员被认为参与了胚胎发生、精子发生以及细胞生长和分裂。由该基因编码的家族成员是一种与线粒体 DNA 结合的线粒体类核蛋白。它还被确定为在视网膜发育中起作用的转录抑制复合物的组分，需要它来优化锌指抗病毒蛋白的功能。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2013 年 2 月]

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger Antiviral protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

DHX30 基因产物(3)

mRNA	Protein	Name
NM_001330990.2	NP_001317919.1	ATP-dependent RNA helicase DHX30 isoform 4
NM_014966.4	NP_055781.2	ATP-dependent RNA helicase DHX30 isoform 2
NM_138615.3	NP_619520.1	ATP-dependent RNA helicase DHX30 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 RNA binding	IDA IDA: 通过直接分析推断	29100085	GOA
enables RNA helicase activity	IDA IDA: 通过直接分析推断	29100085	GOA
enables chromatin binding	IDA IDA: 通过直接分析推断	18063578	GOA
enables double-stranded RNA binding	IDA IDA: 通过直接分析推断	21266579	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	17932509	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in mitochondrial large ribosomal subunit assembly	IMP IMP: 通过突变表型推断	25683715	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	29100085	GOA
located in mitochondrial nucleoid	IDA IDA: 通过直接分析推断	18063578	GOA
located in mitochondrion	IDA IDA: 通过直接分析推断	29100085	GOA
located in ribonucleoprotein granule	IDA IDA: 通过直接分析推断	25683715	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

DHX30 蛋白结构

DEAD

Helicase_C

HA2

OB_NTP_bind

0
200
400
600
800
1000
1194 a.a.

蛋白主名

其他名称

ATP-dependent RNA helicase DHX30

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 30

DHX30 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	DHX30	Q7L2E3	CFTR	Homo sapiens	P13569	Ub Reconstruction	35156780
Intra	DHX30	Q7L2E3	H1-5	Homo sapiens	P16401	Crosslink	30021884
Intra	DHX30	Q7L2E3	OAS3	Homo sapiens	Q9Y6K5	Anti Tag CoIP	21903422

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

Neurodevelopmental Disorder With Severe Motor Impairment And Absent Language

NEDMIAL

Oculomotor Apraxia

Strabismus

Strabismus, Susceptibility To	Strabismus, Susceptibility To, 1
Strabismus 1

Microcephaly

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

Peroxisome Biogenesis Disorder 2a

PBD2A	Peroxisome Biogenesis Disorder Complementation Group 2
PBD-CG2	Cg1
Pbd-Cge	Peroxisome Biogenesis Disorder Complementation Group E
Peroxisome Biogenesis Disorder, Type 2a

Autism

Autistic Disorder	Autism Susceptibility 1
Childhood Autism	Autistic Disorder Of Childhood Onset
Infantile Autism	Kanner'S Syndrome
Autistic

Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay

CLIFAHDD	Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Clifahdd Syndrome	Doid:0081048
Contractures, Limbs And Face, Congenital, Hypotonia, And Developmental Delay

Syndromic X-Linked Intellectual Disability Turner Type

Mental Retardation, X-Linked Syndromic, Turner Type	Intellectual Disability, X-Linked Syndromic, Turner Type
Brooks-Wisniewski-Brown Syndrome	Mental Retardation And Macrocephaly Syndrome
Mrxst	X-Linked Intellectual Disability, Brooks Type
Mental Retardation, X-Linked, Syndromic, Turner Type

Hyperinsulinemic Hypoglycemia, Familial, 4

Hyperinsulinism Due To Glutamodehydrogenase Deficiency	HHF4
Familial Hyperinsulinemic Hypoglycemia 4	Hyperinsulinemic Hypoglycemia Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hyperinsulinism Due To Schad Deficiency	Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Congenital Hyperinsulinism	Schad Deficiency
Persistent Hyperinsulinemic Hypoglycemia Of Infancy	Phhi
3-Hydroxyacyl-Coa Dehydrogenase Deficiency

Brugada Syndrome 5

BRGDA5	Cardiac Conduction Defect, Nonspecific
Brugada Syndrome, Type 5

Coffin-Siris Syndrome 1

Coffin-Siris Syndrome	Fifth Digit Syndrome
Css	CSS1
Mrd12	Mental Retardation, Autosomal Dominant 12
Hhid	Dwarfism-Onychodysplasia
Hypertrichosis, Hyperkeratosis, Mental Retardation, And Distinctive Facial Features	Autosomal Dominant Mental Retardation 12
Short Stature-Onychodysplasia.	Intellectual Disability With Absent Fifth Fingernail And Terminal Phalanx
Mental Retardation With Hypoplastic Fifth Fingernails And Toenails	Short Stature-Onychodysplasia
Coffin-Siris Syndrome, Type 1	Mental Retardation, Autosomal Dominant, Type 12

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-RS03751	DHX30 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Bos taurus	DHX30	VGNC	VGNC:28051
Macaca mulatta	DHX30	VGNC	VGNC:71632
Felis catus	DHX30	VGNC	VGNC:61477
Rattus norvegicus	DHX30	RGD	RGD:1308888
Mus musculus	DHX30	MGD	MGI:1920081
Canis familiaris	DHX30	VGNC	VGNC:39942

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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）

DHX30 - DExH-box helicase 30 Gene

关于 DHX30

功能概要

DHX30 基因产物(3)

DHX30 蛋白结构

DHX30 蛋白互作信息

关联疾病

直系同源

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DHX30 - DExH-box helicase 30 Gene

关于 DHX30

功能概要

DHX30 基因产物(3)

DHX30 蛋白结构

DHX30 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

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B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z