1. Gene
  2. DHX37 - DEAH-box helicase 37 Gene

DHX37 - DEAH-box helicase 37 Gene

中文名称:DEAH 盒解旋酶 37

种属: Homo sapiens

同用名: Dhr1; DDX37; SRXY11; NEDBAVC

基因 ID: 57647 | 基因类型: protein coding

关于 DHX37

Cytogenetic location: 12q24.31 Genomic coordinates (GRCh38): 12:124,946,826-124,989,131 (from NCBI)

This gene has 6 transcripts (splice variants), 195 orthologues, 18 paralogues and is associated with 6 phenotypes. Ubiquitous expression in bone marrow (RPKM 4.6), lymph node (RPKM 4.2) and 25 other tissues.

功能概要

该基因编码 DEAD box 蛋白。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。[RefSeq 提供,2008 年 7 月]

This gene encodes a DEAD box protein. 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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. [provided by RefSeq, Jul 2008]

DHX37 基因产物(1)

mRNA Protein Name
NM_032656.4 NP_116045.2 probable ATP-dependent RNA helicase DHX37
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 U3 snoRNA binding IDA
IDA: 通过直接分析推断
30582406 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
30582406 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in brain development IMP
IMP: 通过突变表型推断
31256877 GOA
involved in positive regulation of male gonad development IDA
IDA: 通过直接分析推断
31337883 GOA
involved in ribosomal small subunit biogenesis IDA
IDA: 通过直接分析推断
34516797 GOA
involved in ribosome assembly IDA
IDA: 通过直接分析推断
30582406 GOA
involved in ribosome biogenesis IDA
IDA: 通过直接分析推断
30582406 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
31337883 GOA
located in nuclear membrane IDA
IDA: 通过直接分析推断
31337883 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
31337883 GOA
part of small-subunit processome IDA
IDA: 通过直接分析推断
34516797 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

DHX37 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (262 - 415)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (589 - 675)

HA2

HA2: Helicase associated domain (HA2) (737 - 859)

OB_NTP_bind

OB_NTP_bind: Oligonucleotide/oligosaccharide-binding (OB)-fold (894 - 1011)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1157 a.a.
蛋白主名 其他名称

probable ATP-dependent RNA helicase DHX37

DEAD/DEAH box helicase DDX37

关联疾病

疾病名称 别名
46,Xy Sex Reversal 11

Testicular Regression Syndrome

Trs

SRXY11

Testicular Regression, Embryonic

Xy Gonadal Agenesis/Dysgenesis Syndrome

Anorchia, Familial

46, Xy Sex Reversal 11

Etrs

Embryonic Testicular Regression Syndrome

Vanishing Testes Syndrome

Vanishing Testis Syndrome

Xy Gonadal Agenesis Syndrome

Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies

NEDBAVC

Anorchia

Testicular Agenesis

Bilateral Anorchia

Absence Of Testes

Congenital Absence Of Testes

Empty Scrotum

Absent Testicle

46,Xy Partial Gonadal Dysgenesis

46,Xy Pgd

46,Xy Partial Testicular Dysgenesis

46,Xy Sex Reversal

Swyer Syndrome

Pure Gonadal Dysgenesis 46,Xy

Gonadal Dysgenesis, Xy Female Type

Gonadal Dysgenesis, 46,Xy

46,Xy Cgd

46,Xy Complete Gonadal Dysgenesis

46,Xy Pure Gonadal Dysgenesis

46 Xy Gonadal Dysgenesis

46, Xy Cgd

46, Xy Complete Gonadal Dysgenesis

46, Xy Pure Gonadal Dysgenesis

Xy Pure Gonadal Dysgenesis

Female With 46,Xy Karyotype

Xy Females

Coloboma Of Optic Nerve

Morning Glory Disc Anomaly

Coloboma Of Optic Disc

Morning Glory Syndrome

Ectasic Coloboma

Coloboma Of Optic Papilla

Congenital Coloboma Of The Optic Nerve

Optic Nerve Coloboma

Optic Nerve Head Pits, Bilateral Congenital

Volubilis Syndrome

COLON

Coloboma Of Optic Disc, Unspecified Eye

Congenital Coloboma Of Optic Disc

Optic Disk Coloboma

Polymicrogyria

Pmg

Neuronal Migration Disorders

Abnormality Of Neuronal Migration

Malformations Of Cortical Development, Group Ii

Neuronal Dysmigration Syndromes

Developmental And Epileptic Encephalopathy 23

DEE23

Epileptic Encephalopathy, Early Infantile, 23

Eiee23

Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome

Epilepsy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome

Developmental And Epileptic Encephalopathy, 23

Early Infantile Epileptic Encephalopathy 23

Gonadal Dysgenesis

Gonadal Dysgenesis Syndrome

Turner Syndrome

Immunodeficiency 40

Dock2 Deficiency

IMD40

Immunodeficiency, Type 40

Adams-Oliver Syndrome

Adams Oliver Syndrome

Aos

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Congenital Scalp Defects With Distal Limb Anomalies

Limb, Scalp And Skull Defects

Limb Scalp And Skull Defects

Absence Defect Of Limbs, Scalp, And Skull

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 DHX37 VGNC VGNC:71639
Bos taurus DHX37 VGNC VGNC:28055
Felis catus DHX37 VGNC VGNC:61482
Rattus norvegicus DHX37 RGD RGD:1306837
Mus musculus DHX37 MGD MGI:3028576
Canis familiaris DHX37 VGNC VGNC:39947