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  2. DHX34 - DExH-box helicase 34 Gene

DHX34 - DExH-box helicase 34 Gene

中文名称:DExH-box 解旋酶 34

种属: Homo sapiens

同用名: HRH1; DDX34

基因 ID: 9704 | 基因类型: protein coding

关于 DHX34

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:47,349,315-47,382,704 (from NCBI)

This gene has 4 transcripts (splice variants), 189 orthologues, 18 paralogues and is associated with 1 phenotype. Broad expression in testis (RPKM 9.0), bone marrow (RPKM 4.3) 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。该基因编码该家族的一个成员。它定位于胶质瘤 19q 抑癌区域,是抑癌候选基因。[RefSeq 提供,2008 年 7 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. This gene encodes a member of this family. It is mapped to the glioma 19q tumor suppressor region and is a tumor suppressor candidate gene. [provided by RefSeq, Jul 2008]

DHX34 基因产物(1)

mRNA Protein Name
NM_014681.6 NP_055496.2 probable ATP-dependent RNA helicase DHX34
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATP hydrolysis activity IMP
IMP: 通过突变表型推断
33205750 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25220460 GOA
enables protein-containing complex binding IPI
IPI: 通过物理相互作用推断
26841701 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay IMP
IMP: 通过突变表型推断
23828042 GOA
involved in nuclear-transcribed mRNA catabolic process IMP
IMP: 通过突变表型推断
23828042 GOA
involved in positive regulation of phosphorylation IMP
IMP: 通过突变表型推断
26841701 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

DHX34 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (173 - 315)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (410 - 496)

HA2

HA2: Helicase associated domain (HA2) (557 - 645)

OB_NTP_bind

OB_NTP_bind: Oligonucleotide/oligosaccharide-binding (OB)-fold (686 - 910)

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  • 1143 a.a.
蛋白主名 其他名称

probable ATP-dependent RNA helicase DHX34

DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34

关联疾病

疾病名称 别名
Pulmonary Emphysema
Renal Hypodysplasia/Aplasia 3

RHDA3

Renal Agenesis, Unilateral

Unilateral Renal Agenesis

Polydactyly, Postaxial, Type A1

Postaxial Polydactyly Type A

Polydactyly, Postaxial

Postaxial Polydactyly

PAPA1

Postaxial Polydactyly, Type A

Papa

Polydactyly, Postaxial, Types A1 And B

Postaxial Polydactyly Type B

Polydactyly Postaxial

Polydactyly, Postaxial A1

Polydactyly, Postaxial B

PAPB

Postaxial Polydactyly, Type A1/B

Polydactyly, Postaxial, Type A

Pyogenic Arthritis, Pyoderma Gangrenosum And Acne

Postaxial Polydactyly, Type B

Polycystic Kidney Disease

Polycystic Kidney Diseases

Pkd

Polycystic Renal Disease

Kidney Disease, Polycystic

Polycystic Kidney, Autosomal Dominant

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Immunodeficiency 51

IMD51

Candf5

Candidiasis, Familial, 5

Candidiasis, Familial, 5, Formerly

Candf5, Formerly

Familial Candidiasis 5

Candidiasis Familial 5 Autosomal Recessive

Candidiasis Familial Chronic Mucocutaneous Autosomal Recessive

Chronic Mucocutaneous Candidiasis 5

Pelger-Huet Anomaly

PHA

Pelger-Huët Anomaly

Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy And Skeletal Abnormalities

Pelger Huet Anomaly

Pelger-Huet Nuclear Anomaly

Pancreatic Adenosquamous Carcinoma

Adenosquamous Carcinoma Of Pancreas

Adenosquamous Carcinoma Of The Pancreas

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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta DHX34 VGNC VGNC:71634
Felis catus DHX34 VGNC VGNC:61479
Mus musculus DHX34 MGD MGI:1918973
Rattus norvegicus DHX34 RGD RGD:1584452
Canis familiaris DHX34 VGNC VGNC:39944
Bos taurus DHX34 VGNC VGNC:28052