1. Gene
  2. DDX59 - DEAD-box helicase 59 Gene

DDX59 - DEAD-box helicase 59 Gene

中文名称:死盒解旋酶 59

种属: Homo sapiens

同用名: OFD5; ZNHIT5

基因 ID: 83479 | 基因类型: protein coding

关于 DDX59

Cytogenetic location: 1q32.1 Genomic coordinates (GRCh38): 1:200,640,805-200,669,907 (from NCBI)

This gene has 8 transcripts (splice variants), 187 orthologues, 38 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 2.6), thyroid (RPKM 2.3) and 25 other tissues.

功能概要

预测启用 RNA 结合活性和 RNA 解旋酶活性。预测位于细胞质和细胞核中。预计是膜的组成部分。涉及口面指综合症 V。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable RNA binding activity and RNA helicase activity. Predicted to be located in cytoplasm and nucleus. Predicted to be integral component of membrane. Implicated in orofaciodigital syndrome V. [provided by Alliance of Genome Resources, Apr 2022]

DDX59 基因产物(9)

mRNA Protein Name
NM_001031725.6 NP_001026895.2 probable ATP-dependent RNA helicase DDX59 isoform 1
NM_001320181.2 NP_001307110.1 probable ATP-dependent RNA helicase DDX59 isoform 2
NM_001320182.1 NP_001307111.1 probable ATP-dependent RNA helicase DDX59 isoform 3
NM_001349799.3 NP_001336728.1 probable ATP-dependent RNA helicase DDX59 isoform 1
NM_001349800.3 NP_001336729.1 probable ATP-dependent RNA helicase DDX59 isoform 1
NM_001349801.3 NP_001336730.1 probable ATP-dependent RNA helicase DDX59 isoform 4
NM_001349802.3 NP_001336731.1 probable ATP-dependent RNA helicase DDX59 isoform 5
NM_001349803.3 NP_001336732.1 probable ATP-dependent RNA helicase DDX59 isoform 6
NM_001349804.2 NP_001336733.1 probable ATP-dependent RNA helicase DDX59 isoform 7

DDX59 蛋白结构

zf-HIT

zf-HIT: HIT zinc finger (106 - 132)

DEAD

DEAD: DEAD/DEAH box helicase (227 - 393)

Helicase_C

Helicase_C: Helicase conserved C-terminal domain (468 - 540)

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蛋白主名 其他名称

probable ATP-dependent RNA helicase DDX59

DEAD (Asp-Glu-Ala-Asp) box polypeptide 59

关联疾病

疾病名称 别名
Orofaciodigital Syndrome V

OFD5

Thurston Syndrome

Orofaciodigital Syndrome 5

Polydactyly, Postaxial, With Median Cleft Of Upper Lip

Ofds V

Oral-Facial-Digital Syndrome, Type V

Orofaciodigital Syndrome, Thurston Type

Orofaciodigital Syndrome Thurston Type

Oral-Facial-Digital Syndrome 5

Polydactyly Postaxial With Median Cleft Of Upper Lip

Ofd Syndrome 5

Ofds 5

Oral Facial Digital Syndrome 5

Oral Facial Digital Syndrome Type 5

Orofaciodigital Syndrome Type 5

Oral-Facial-Digital Syndrome Type 5

Papillon-Leage And Psaume Syndrome

Orofaciodigital Syndrome, Type V

Orofaciodigital Syndrome

Oral-Facial-Digital Syndrome

Orofaciodigital Syndromes

Ofd

Oral Facial Digital Syndromes

Oral-Facial-Digital Syndromes

Dysplasia Linguofacialis

Ofds

Oro-Facio-Digital Syndrome

Orodigitofacial Dysostosis

Orodigitofacial Syndrome

Oral Facial Digital Syndrome

Orofaciodigital Syndrome I

Chromosome 1q21.1 Duplication Syndrome

1q21.1 Microduplication Syndrome

Trisomy 1q21.1

1q21.1 Duplication Syndrome

1q21.1 Microduplication

1q21.1 Duplication

Dup(1)(Q21.1)

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome

Berdon Syndrome

MMIHS

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome

Megacystis, Microcolon, Hypoperistalsis Syndrome

Visceral Myopathy

Mmih Syndrome

Megacystis-Microcolon-Intestinal Hypoperistalsis-Hydronephrosis Syndrome

MMIHS1

Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome, Mmih

Mmhs

Orofaciodigital Syndrome Vi

OFD6

Varadi-Papp Syndrome

Varadi Syndrome

Joubert Syndrome With Orofaciodigital Defect

Orofaciodigital Syndrome Type 6

Orofaciodigital Syndrome 6

Oral-Facial-Digital Syndrome, Type Vi

Ofds Vi

Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation

Polydactyly Cleft Lip Palate Psychomotor Retardation

Oral-Facial-Digital Syndrome Type 6

Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome

Polydactyly - Cleft Lip/Palate - Psychomotor Retardation

Váradi Syndrome

Váradi-Papp Syndrome

Joubert Syndrome With Oral-Facial-Digital Syndrome

Oral-Facial-Digital Syndrome 6

Joubert-Orofaciodigital Syndrome

Orofaciodigital Syndrome, Type Vi

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Mus musculus DDX59 MGD MGI:1915247
Bos taurus DDX59 VGNC VGNC:27980
Macaca mulatta DDX59 VGNC VGNC:99882
Felis catus DDX59 VGNC VGNC:61419
Canis familiaris DDX59 VGNC VGNC:39868
Rattus norvegicus DDX59 RGD RGD:1359520