1. Gene
  2. DDX4 - DEAD-box helicase 4 Gene

DDX4 - DEAD-box helicase 4 Gene

中文名称:死盒解旋酶 4

种属: Homo sapiens

同用名: VASA

基因 ID: 54514 | 基因类型: protein coding

关于 DDX4

Cytogenetic location: 5q11.2 Genomic coordinates (GRCh38): 5:55,738,061-55,817,157 (from NCBI)

This gene has 14 transcripts (splice variants), 197 orthologues and 38 paralogues. Restricted expression toward testis (RPKM 81.5).

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 DEAD box 蛋白,它是果蝇和其他几个物种中 VASA 蛋白的同系物。该基因在两性生殖细胞谱系中特异性表达,并在生殖细胞发育中发挥作用。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 10 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 family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a homolog of VASA proteins in Drosophila and several Other species. The gene is specifically expressed in the germ cell lineage in both sexes and functions in germ cell development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

DDX4 基因产物(4)

mRNA Protein Name
NM_001142549.2 NP_001136021.1 probable ATP-dependent RNA helicase DDX4 isoform 2
NM_001166533.2 NP_001160005.1 probable ATP-dependent RNA helicase DDX4 isoform 3
NM_001166534.2 NP_001160006.1 probable ATP-dependent RNA helicase DDX4 isoform 4
NM_024415.3 NP_077726.1 probable ATP-dependent RNA helicase DDX4 isoform 1

DDX4 蛋白结构

DEAD

DEAD: DEAD/DEAH box helicase (312 - 490)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (559 - 635)

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

probable ATP-dependent RNA helicase DDX4

DEAD (Asp-Glu-Ala-Asp) box polypeptide 4

DDX4 抗体

目录号 产品名 应用 反应物种
HY-P81463 DDX4 Antibody (YA1208) IHC-P Human

关联疾病

疾病名称 别名
Male Infertility

Infertility, Male

Infertility Male

Male Sterility

Absolute Infertility

Infertility
Spermatogenic Failure, X-Linked, 1

Sertoli Cell-Only Syndrome

Germinal Cell Aplasia

Del Castillo Syndrome

SPGFX1

X-Linked Spermatogenic Failure 1

Congenital Absence Of Germinal Epithelium Of Testes

Testicular Torsion

Spermatic Cord Torsion

Torsion Of Testis

Torsion Of Testicular Cord

Torsion Of Testicle

Torsion Of Spermatic Cord

Torsion Of Spermatic Cord Nos

Spermatogenic Failure

Azoospermia

Spgf

Spermatogenic Failure, Susceptibility To

Absent Sperm

Aspermatogenesis

Infertility Due To Azoospermia

Hypospermatogenesis

Azoospermatism

Epithelial-Stromal Tgfbi Dystrophy
Lattice Corneal Dystrophy

Familial Amyloid Neuropathy, Finnish Type

Familial Amyloid Polyneuropathy, Type V

Premature Menopause

Primary Ovarian Insufficiency

Premature Ovarian Failure

Hypergonadotropic Hypogonadism

Premature Ovarian Insufficiency

Menopause - Premature

Menopause Praecox

Menopause Premature

Menopause, Premature

Female Hypergonadotropic Hypogonadism

Hypergonadotrophic Ovarian Failure

Primary Female Hypogonadism

Pof - [Premature Ovarian Failure]

Ovarian Failure

Ovarian Secretion Suppression

Ovary Hyposecretion

Ovary Secretion Deficiency

Premature Menopause Nos

Cryptorchidism, Unilateral Or Bilateral

Cryptorchidism

Undescended Testicle

Undescended Testis

Cryptorchism

Undescended Testicles

CRYPTO

Impaired Testicular Descent

Cryptosporidiosis

Retained Testis

Unilateral Cryptorchidism

Unilateral Undescended Testis

Nondescent Unilateral Testicle

Unilateral Cryptorchism

Ectopic Testis, Unilateral

Bilateral Cryptorchidism

Bilateral Cryptorchism

Bilateral Nondescent Testicle

Bilateral Undescended Testes

Bilateral Ectopic Testes

Congenital Central Hypoventilation Syndrome

Cchs

Haddad Syndrome

Ondine Curse

Ondine Syndrome

Congenital Central Hypoventilation

Congenital Central Alveolar Hypoventilation Syndrome

Congenital Failure Of Autonomic Control

Ondine'S Curse

Primary Alveolar Hypoventilation

Ondine-Hirschsprung Disease

Central Congenital Hypoventilation Syndrome

Congenital Ondine Curse

Idiopathic Congenital Central Alveolar Hypoventilation

Congenital Central Alveolar Hypoventilation-Hirschsprung Disease Syndrome

Ondine-Hirschsprung Syndrome

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 DDX4 VGNC VGNC:71667
Rattus norvegicus DDX4 RGD RGD:1308793
Canis familiaris DDX4 VGNC VGNC:39856
Mus musculus DDX4 MGD MGI:102670
Bos taurus DDX4 VGNC VGNC:27966
Felis catus DDX4 VGNC VGNC:97397
Others DDX4 NCBI