1. Gene
  2. DHX36 - DEAH-box helicase 36 Gene

DHX36 - DEAH-box helicase 36 Gene

中文名称:DEAH 盒解旋酶 36

种属: Homo sapiens

同用名: G4R1; RHAU; DDX36; MLEL1

基因 ID: 170506 | 基因类型: protein coding

关于 DHX36

Cytogenetic location: 3q25.2 Genomic coordinates (GRCh38): 3:154,272,546-154,324,487 (from NCBI)

This gene has 13 transcripts (splice variants), 1 gene allele, 203 orthologues and 18 paralogues. Ubiquitous expression in testis (RPKM 24.2), thyroid (RPKM 15.5) and 25 other tissues.

功能概要

该基因是 RNA 依赖性 NTPases 的 DEAH-box 家族成员,以基序 II 中的保守氨基酸序列 Asp-Glu-Ala-His 命名。该基因编码的蛋白质已被证明可以增强具有 3'-UTR AU 富集元素 (ARE-mRNA) 的 mRNA 的去腺苷酸化和衰变。该蛋白质还被证明可以将高度稳定的四分子 DNA 配置 (G4) 分解成单链,这种配置可以在富含鸟嘌呤的 DNA 区域自发形成。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2008 年 7 月]

This gene is a member of the DEAH-box family of RNA-dependent NTPases which are named after the conserved amino acid sequence Asp-Glu-Ala-His in motif II. The protein encoded by this gene has been shown to enhance the deadenylation and decay of mRNAs with 3'-UTR AU-rich elements (ARE-mRNA). The protein has also been shown to resolve into single strands the highly stable tetramolecular DNA configuration (G4) that can form spontaneously in guanine-rich regions of DNA. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

DHX36 基因产物(2)

mRNA Protein Name
NM_001114397.2 NP_001107869.1 ATP-dependent DNA/RNA helicase DHX36 isoform 2
NM_020865.3 NP_065916.2 ATP-dependent DNA/RNA helicase DHX36 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 ATP-dependent activity, acting on DNA IDA
IDA: 通过直接分析推断
21586581 GOA
enables DNA helicase activity IDA
IDA: 通过直接分析推断
16150737 GOA
enables G-quadruplex DNA binding IDA
IDA: 通过直接分析推断
16150737 GOA
enables G-quadruplex RNA binding IDA
IDA: 通过直接分析推断
18842585 GOA
enables G-quadruplex RNA binding IMP
IMP: 通过突变表型推断
22238380 GOA
enables RNA binding IDA
IDA: 通过直接分析推断
18854321 GOA
enables RNA helicase activity IDA
IDA: 通过直接分析推断
14731398 GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
IDA: 通过直接分析推断
21586581 GOA
enables double-stranded RNA binding IDA
IDA: 通过直接分析推断
21266579 GOA
enables mRNA 3'-UTR AU-rich region binding IDA
IDA: 通过直接分析推断
14731398 GOA
enables mRNA 3'-UTR binding IDA
IDA: 通过直接分析推断
24369427 GOA
enables mRNA 5'-UTR binding IDA
IDA: 通过直接分析推断
26489465 GOA
enables magnesium ion binding IDA
IDA: 通过直接分析推断
16150737 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
14731398 GOA
enables single-stranded DNA binding IDA
IDA: 通过直接分析推断
20696886 GOA
enables telomerase RNA binding IDA
IDA: 通过直接分析推断
21149580 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in 3'-UTR-mediated mRNA destabilization IMP
IMP: 通过突变表型推断
26489465 GOA
involved in G-quadruplex DNA unwinding IDA
IDA: 通过直接分析推断
16150737 GOA
involved in RNA secondary structure unwinding IDA
IDA: 通过直接分析推断
18842585 GOA
involved in cellular response to UV IMP
IMP: 通过突变表型推断
27940037 GOA
involved in cellular response to arsenite ion IDA
IDA: 通过直接分析推断
18854321 GOA
involved in cellular response to heat IDA
IDA: 通过直接分析推断
18854321 GOA
involved in negative regulation of translation IDA
IDA: 通过直接分析推断
24369427 GOA
involved in positive regulation of cytoplasmic translation IMP
IMP: 通过突变表型推断
26489465 GOA
involved in positive regulation of interferon-alpha production IMP
IMP: 通过突变表型推断
20696886 GOA
involved in positive regulation of mRNA 3'-end processing IMP
IMP: 通过突变表型推断
27940037 GOA
involved in positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay IMP
IMP: 通过突变表型推断
14731398 GOA
involved in positive regulation of telomere maintenance IMP
IMP: 通过突变表型推断
22238380 GOA
involved in positive regulation of telomere maintenance via telomere lengthening IMP
IMP: 通过突变表型推断
21149580 GOA
involved in positive regulation of transcription initiation by RNA polymerase II IMP
IMP: 通过突变表型推断
21993297 GOA
involved in regulation of mRNA stability IMP
IMP: 通过突变表型推断
18279852 GOA
involved in regulation of transcription by RNA polymerase III IMP
IMP: 通过突变表型推断
18279852 GOA
involved in telomerase RNA stabilization IDA
IDA: 通过直接分析推断
22238380 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in chromosome, telomeric region IDA
IDA: 通过直接分析推断
20472641 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
14731398 GOA
located in cytoplasmic stress granule IDA
IDA: 通过直接分析推断
18854321 GOA
located in nuclear speck IDA
IDA: 通过直接分析推断
18279852 GOA
located in nucleus IDA
IDA: 通过直接分析推断
14731398 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

DHX36 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (212 - 372)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (517 - 606)

HA2

HA2: Helicase associated domain (HA2) (670 - 759)

OB_NTP_bind

OB_NTP_bind: Oligonucleotide/oligosaccharide-binding (OB)-fold (812 - 917)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1008 a.a.
蛋白主名 其他名称

ATP-dependent DNA/RNA helicase DHX36

ATP-dependent RNA helicase DHX36

关联疾病

疾病名称 别名
Dyskeratosis Congenita, Autosomal Recessive 5

Dyskeratosis Congenita, Autosomal Dominant, 4

DKCB5

Autosomal Dominant Dyskeratosis Congenita 4

DKCA4

Autosomal Recessive Dyskeratosis Congenita 5

Dyskeratosis Congenita, Autosomal Recessive, 5

Dyskeratosis Congenita, Autosomal Dominant 4

Dyskeratosis Congenita, Autosomal Recessive, Type 5

Fanconi Anemia, Complementation Group J

Fanconi Anemia Complementation Group J

FANCJ

Aicardi-Goutieres Syndrome

Aicardi Goutieres Syndrome

Cree Encephalitis

Aicardi-Goutières Syndrome

Encephalopathy With Basal Ganglia Calcification

Ags

Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid

Pseudotoxoplasmosis Syndrome

Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis

Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome 1

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
Bos taurus DHX36 VGNC VGNC:28054
Macaca mulatta DHX36 VGNC VGNC:71623
Rattus norvegicus DHX36 RGD RGD:1308767
Mus musculus DHX36 MGD MGI:1919412
Felis catus DHX36 VGNC VGNC:61481
Canis familiaris DHX36 VGNC VGNC:39946