2. Gene
  3. DNAAF1 - dynein axonemal assembly factor 1 Gene

DNAAF1 - dynein axonemal assembly factor 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：动力蛋白轴丝装配因子 1

种属: Homo sapiens

同用名: swt; DAU1; ODA7; CILD13; LRRC50

基因 ID: 123872 | 基因类型: protein coding

关于 DNAAF1

Cytogenetic location: 16q24.1 Genomic coordinates (GRCh38): 16:84,145,308-84,177,920 (from NCBI)

This gene has 10 transcripts (splice variants), 200 orthologues, 13 paralogues and is associated with 2 phenotypes. Broad expression in testis (RPKM 17.0), lung (RPKM 5.3) and 20 other tissues.

功能概要

该基因编码的蛋白质是纤毛特异性的，是纤毛结构稳定所必需的。它参与基于微管的纤毛和基于肌动蛋白的刷状缘微绒毛的调节。该基因的突变与原发性纤毛运动障碍 13 相关。可变剪接导致多个转录本变体。[RefSeq 提供，2016 年 1 月]

The protein encoded by this gene is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli. Mutations in this gene are associated with primary ciliary dyskinesia-13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

DNAAF1 基因产物(2)

mRNA Protein Name
NM_001318756.1 NP_001305685.1 dynein axonemal assembly factor 1 isoform 2
NM_178452.6 NP_848547.4 dynein axonemal assembly factor 1 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 dynein complex binding IMP
IMP: 通过突变表型推断
18385425 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in axonemal dynein complex assembly IMP
IMP: 通过突变表型推断
19944400 GOA
involved in cilium assembly IMP
IMP: 通过突变表型推断
18385425 GOA
involved in cilium movement IMP
IMP: 通过突变表型推断
19944405 GOA
involved in determination of digestive tract left/right asymmetry IMP
IMP: 通过突变表型推断
19944405 GOA
involved in determination of liver left/right asymmetry IMP
IMP: 通过突变表型推断
19944405 GOA
involved in determination of pancreatic left/right asymmetry IMP
IMP: 通过突变表型推断
19944405 GOA
involved in heart looping IMP
IMP: 通过突变表型推断
19944400 GOA
involved in inner dynein arm assembly IMP
IMP: 通过突变表型推断
19944400 GOA
involved in left/right pattern formation IMP
IMP: 通过突变表型推断
19944400 GOA
involved in lung development IMP
IMP: 通过突变表型推断
19944405 GOA
involved in motile cilium assembly IMP
IMP: 通过突变表型推断
19944405 GOA
involved in outer dynein arm assembly IMP
IMP: 通过突变表型推断
19944400 GOA
involved in regulation of cilium beat frequency IMP
IMP: 通过突变表型推断
19944400 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axoneme IDA
IDA: 通过直接分析推断
18385425 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
蛋白主名 其他名称

dynein axonemal assembly factor 1

dynein assembly factor 1, axonemal

关联疾病

疾病名称 别名
Ciliary Dyskinesia, Primary, 13

Primary Ciliary Dyskinesia 13

CILD13

Primary Ciliary Dyskinesia 13 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 13, With Or Without Situs Inversus

Ics13

Immotile Cilia Syndrome 13

Dyskinesia, Ciliary, Primary, 13
Primary Ciliary Dyskinesia

Immotile Cilia Syndrome

Kartagener Syndrome

Dextrocardia Bronchiectasis And Sinusitis

Pcd

Ciliary Motility Disorders

Ciliary Motility Disorder

Immotile Ciliary Syndrome

Ciliary Dyskinesia Primary

Ics

Polynesian Bronchiectasis

Dextrocardia-Bronchiectasis-Sinusitis Syndrome

Immotile Cilia Syndrome, Kartagener Type

Primary Ciliary Dyskinesia And Situs Inversus

Primary Ciliary Dyskinesia, Kartagener Type

Siewert Syndrome

Dyskinesia, Ciliary, Primary
Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv
Visceral Heterotaxy

Situs Ambiguus

Heterotaxia

Heterotaxy Syndrome

Heterotaxy

Lateralization Defect

Situs Ambiguous

Left Isomerism

Htx

Ivemark Syndrome

Right Isomerism

Situs Ambiguus Viscerum

Incomplete Situs Inversus

Partial Situs Inversus

Heterotaxy, Visceral

Asplenia Syndrome

Bilateral Left-Sidedness

Polysplenia Syndrome

Moller Syndrome
Kartagener Syndrome

Kartagener'S Syndrome
Bronchiectasis

Polynesian Bronchiectasis

Kartagener Syndrome

Bronchiectasis Nos
Ciliary Dyskinesia, Primary, 2

Primary Ciliary Dyskinesia 2

CILD2

Primary Ciliary Dyskinesia 2 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 2, With Or Without Situs Inversus

Ics2

Immotile Cilia Syndrome 2

Dyskinesia, Ciliary, Primary, 2
Ethmoid Sinusitis

Ethmoidal Sinusitis

Ethmoiditis
Paranasal Sinus Disease

Paranasal Sinus Diseases

Disorder Of Nasal Sinus
Neural Tube Defects

Spina Bifida

Neural Tube Defect

NTD

Neural Tube Defects, Susceptibility To

Spinal Dysraphism

Spina Bifida, Susceptibility To

Rachischisis

Cleft Spine

Open Spine

Hydrocele Spinalis

Neural Tube Defect Nos

Sb - [Spina Bifida]

Spinal Hernia Nos

Spinal Fissure Nos
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS03839 DNAAF1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus DNAAF1 VGNC VGNC:61537
Bos taurus DNAAF1 VGNC VGNC:50155
Mus musculus DNAAF1 MGD MGI:1915520
Rattus norvegicus DNAAF1 RGD RGD:1310542
Macaca mulatta DNAAF1 VGNC VGNC:72005
Canis familiaris DNAAF1 VGNC VGNC:53344
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z