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  3. DNAL1 - dynein axonemal light chain 1 Gene

DNAL1 - dynein axonemal light chain 1 Gene

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

中文名称：动力蛋白轴丝轻链 1

种属: Homo sapiens

同用名: LC1; CILD16; C14orf168

基因 ID: 83544 | 基因类型: protein coding

关于 DNAL1

Cytogenetic location: 14q24.3 Genomic coordinates (GRCh38): 14:73,644,986-73,703,732 (from NCBI)

This gene has 9 transcripts (splice variants), 196 orthologues and is associated with 2 phenotypes. Broad expression in thyroid (RPKM 3.1), brain (RPKM 3.1) and 25 other tissues.

功能概要

该基因编码一个轴丝动力蛋白轻链，它作为外部动力蛋白臂复合体的一个组成部分发挥作用。这种复合物充当分子马达，提供以 ATP 依赖性方式移动纤毛的力。编码的蛋白质在具有活动纤毛或鞭毛的组织中表达，并可能参与精子鞭毛的运动。交替剪接导致多个转录变体。[RefSeq 提供，2011 年 1 月]

This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]

DNAL1 基因产物(2)

mRNA Protein Name
NM_001201366.2 NP_001188295.1 dynein axonemal light chain 1 isoform 2
NM_031427.4 NP_113615.2 dynein axonemal light chain 1 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables alpha-tubulin binding IMP
IMP: 通过突变表型推断
21496787 GOA
enables dynein heavy chain binding IDA
IDA: 通过直接分析推断
15845866 GOA
enables dynein heavy chain binding IMP
IMP: 通过突变表型推断
21496787 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
29601588 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in outer dynein arm assembly IMP
IMP: 通过突变表型推断
21496787 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

DNAL1 蛋白结构

LRR_9

LRR_9: Leucine-rich repeat (55 - 155)

  • 0
  • 100
  • 190 a.a.
蛋白主名 其他名称

dynein axonemal light chain 1

DNAL1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
DNAL1 Q4LDG9 LRRC40 Homo sapiens Q9H9A6
Y2H Prey Pooling
32296183
种属内
DNAL1 Q4LDG9 LRRC40 Homo sapiens Q9H9A6
Validated Y2H
32296183
种属内
DNAL1 Q4LDG9 LRRC40 Homo sapiens Q9H9A6
Y2H Array
32296183
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Ciliary Dyskinesia, Primary, 16

CILD16

Primary Ciliary Dyskinesia 16

Primary Ciliary Dyskinesia 16 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 16, With Or Without Situs Inversus

Ics16

Immotile Cilia Syndrome 16

Dyskinesia, Ciliary, Primary, 16
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
Amelogenesis Imperfecta, Type Ib

AI1B

Aih2

Amelogenesis Imperfecta Type 1b

Amelogenesis Imperfecta Type Ib

Hereditary Localized Enamel Hypoplasia

Amelogenesis Imperfecta - Hypoplastic Autosomal Dominant - Local

Amelogenesis Imperfecta, Hypoplastic Local, Autosomal Dominant

Enamel Hypoplasia, Hereditary Localized

Autosomal Dominant Hypoplastic Local Amelogenesis Imperfecta

Amelogenesis Imperfecta 1b

Amelogenesis Imperfecta Hypoplastic 2

Amelogenesis Imperfecta Hypoplastic Local Autosomal Dominant
Amelogenesis Imperfecta, Type Ie

Aih1

Amelogenesis Imperfecta Type 1e

AI1E

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1

Amelogenesis Imperfecta, Hypomaturation Type, With Snow-Capped Teeth

Enamel Hypoplasia, X-Linked

Amelogenesis Imperfecta Type Ie

Amelogenesis Imperfecta Hypoplastic/Hypomaturation X-Linked 1

Enamel Hypoplasia X-Linked

Amelogenesis Imperfecta, X-Linked 1

Amelogenesis Imperfecta, Type 1e

Amelogenesis Imperfecta Hypomaturationtype With Snow-Capped Teeth

X-Linked Amelogenesis Imperfecta 1

X-Linked Amelogenesis Imperfecta Hypoplastic/Hypomaturation 1

X-Linked Enamel Hypoplasia

Amelogenesis Imperfecta X-Linked 1

Amelogenesis Imperfecta 1e

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation Type 1e

Amelogenesis Imperfecta Hypomaturation Type With Snow-Capped Teeth

Xai

X-Linked Amelogenesis Imperfecta

Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Kartagener Syndrome

Kartagener'S Syndrome
Situs Inversus

Situs Inversus Viscerum

Laterality Sequence

Complete Transposition

Siv
Paranoid Personality Disorder
Autoimmune Cholangitis

Autoimmune Cholangiopathy
Drug-Induced Hepatitis

Drug-Induced Chronic Hepatitis

Chemical And Drug Induced Liver Injury, Chronic

Hepatitis, Drug-Induced

Hepatitis, Chronic, Drug-Induced
Sclerosing Cholangitis

Fibrosing Cholangitis

Cholangitis, Sclerosing

Primary Sclerosing Cholangitis
Cholangitis, Primary Sclerosing

Primary Sclerosing Cholangitis

PSC

Sclerosing Cholangitis

Cholangitis, Sclerosing

Cholangitis Primary Sclerosing

Psc - [Primary Sclerosing Cholangitis]
Amelogenesis Imperfecta

Ai

Congenital Enamel Hypoplasia

Al - [Amelogenesis Imperfecta]
Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis
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-RS03891 DNAL1 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta DNAL1 VGNC VGNC:71885
Canis familiaris DNAL1 VGNC VGNC:50523
Mus musculus DNAL1 MGD MGI:1921462
Bos taurus DNAL1 VGNC VGNC:55111
Rattus norvegicus DNAL1 RGD RGD:1591349
Felis catus DNAL1 VGNC VGNC:61549
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