DNAH11 - dynein axonemal heavy chain 11 Gene

中文名称：动力蛋白轴丝重链 11

种属: Homo sapiens

同用名: CILD7; DNHBL; DPL11; DNAHBL; DNAHC11

基因 ID: 8701 | 基因类型: protein coding

关于 DNAH11

Cytogenetic location: 7p15.3 Genomic coordinates (GRCh38): 7:21,543,039-21,901,839 (from NCBI)

This gene has 10 transcripts (splice variants), 189 orthologues, 15 paralogues and is associated with 2 phenotypes. Broad expression in thyroid (RPKM 1.1), lung (RPKM 1.1) and 25 other tissues.

功能概要

该基因编码纤毛外动力蛋白臂蛋白，是动力蛋白重链家族的成员。它是一种微管依赖性运动 ATP 酶，据报道参与呼吸纤毛的运动。该基因的突变与导致 Kartagener 综合症 (总内脏反位和原发性纤毛运动障碍 (PCD) 的组合，也称为不动纤毛综合症 1 (ICS1) ) 和雄性不育有关。[RefSeq 提供，2013 年 3 月]

This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]

DNAH11 基因产物(1)

mRNA	Protein	Name
NM_001277115.2	NP_001264044.1	dynein axonemal heavy chain 11

基因本体论

生物过程
细胞组分

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within determination of left/right symmetry	IMP IMP: 通过突变表型推断	12142464	GOA
acts upstream of or within flagellated sperm motility	IMP IMP: 通过突变表型推断	18492703	GOA
involved in protein localization to motile cilium	IMP IMP: 通过突变表型推断	33139725	GOA
acts upstream of or within regulation of cilium beat frequency	IMP IMP: 通过突变表型推断	18022865	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in 9+2 motile cilium	IDA IDA: 通过直接分析推断	26909801	GOA
located in axoneme	IDA IDA: 通过直接分析推断	31178125	GOA
located in motile cilium	IDA IDA: 通过直接分析推断	31178125	GOA
located in proximal portion of axoneme	IDA IDA: 通过直接分析推断	26909801	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

DNAH11 蛋白结构

DHC_N1

DHC_N2

AAA_6

AAA_5

AAA_7

AAA_8

AAA_9

Dynein_heavy

0
700
1400
2100
2800
3500
4200
4516 a.a.

蛋白主名

其他名称

dynein axonemal heavy chain 11

axonemal beta dynein heavy chain 11

关联疾病

疾病名称

别名

Ciliary Dyskinesia, Primary, 7

Primary Ciliary Dyskinesia 7	CILD7
Ciliary Dyskinesia, Primary, 7, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 7 With Or Without Situs Inversus
Ics7	Immotile Cilia Syndrome 7
Dyskinesia, Ciliary, Primary, 7

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

Kartagener Syndrome

Kartagener'S Syndrome

Dextrocardia With Situs Inversus

Situs Inversus Totalis	Complete Situs Inversus
Complete Situs Inversus Viscerum	Situs Inversus

Ciliary Dyskinesia, Primary, 3

Primary Ciliary Dyskinesia 3	CILD3
Ciliary Dyskinesia, Primary, 3, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 3 With Or Without Situs Inversus
Ics3	Immotile Cilia Syndrome 3
Dyskinesia, Ciliary, Primary, 3

Bronchiectasis

Polynesian Bronchiectasis	Kartagener Syndrome
Bronchiectasis Nos

Ciliary Dyskinesia, Primary, 8

Primary Ciliary Dyskinesia 8	CILD8
Ciliary Dyskinesia, Primary, 8, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 8 With Or Without Situs Inversus

Ciliary Dyskinesia, Primary, 4

Primary Ciliary Dyskinesia 4	CILD4
Ciliary Dyskinesia, Primary, 4, With Or Without Situs Inversus	Primary Ciliary Dyskinesia 4 With Or Without Situs Inversus
Primary Ciliary Dyskinesia, 4

Paranasal Sinus Disease

Paranasal Sinus Diseases

Disorder Of Nasal Sinus

Middle Ear Disease

Middle Ear Anomaly

Disorder Of Middle Ear

Dextrocardia

Heart Predominantly In Right Hemithorax	Heart In Right Chest
Right-Sided Heart	Congenital Dextrocardia Of Heart
Transposition Of Heart

Right Atrial Isomerism

Ivemark Syndrome	Asplenia With Cardiovascular Anomalies
RAI	Asplenia Syndrome
Asplenia	Right Isomerism
Splenic Agenesis Syndrome	Bilateral Right-Sidedness Sequence
Right Sided Atrial Isomerism	Isomerism Of Right Atrial Appendage
Heterotaxy, Visceroatrial, Autosomal Recessive	Polyasplenia
Vah, Autosomal Recessive	Atrial Isomerism, Right
Congenital Absence Of Spleen	Bilateral Right-Sidedness

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

Dyslexia

Otorrhea

Discharging Ear

Ciliary Dyskinesia, Primary, 1

CILD1	Pcd
Primary Ciliary Dyskinesia 1	Kartagener Syndrome
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus	Immotile Cilia Syndrome
Ics	Polynesian Bronchiectasis
Primary Ciliary Dyskinesia 1 With Or Without Situs Inversus	Ics1
Immotile Cilia Syndrome 1	Primary Ciliary Dyskinesia
KTGS	Dextrocardia-Bronchiectasis-Sinusitis Syndrome
Immotile Cilia Syndrome Kartagener Type	Primary Ciliary Dyskinesia Kartagener Type
Siewert Syndrome	Immotile Cilia
Dyskinesia, Ciliary, Primary, Type 1	Ciliary Motility Disorders

Chronic Rhinitis

Rhinitis - Chronic	Chronic Rhinitis Nos
Rhinitis	Rhinitis Nos

Meckel Syndrome, Type 1

Meckel-Gruber Syndrome	Meckel Syndrome
Dysencephalia Splanchnocystica	Meckel Syndrome 1
MKS1	Mks
Gruber Syndrome	Meckel-Gruber Syndrome, Type 1
Mes	Dysencephalia Splachnocystica
Meckel Gruber Syndrome	Meckel Syndrome Type 1

Cri-Du-Chat Syndrome

5p Deletion Syndrome	5p Partial Monosomy Syndrome
Monosomy 5p	Cat Cry Syndrome
Chromosome 5p Deletion Syndrome	Cri Du Chat Syndrome
5p- Syndrome	5p Minus Syndrome
Chromosome 5p- Syndrome	Chromosome 5 Short Arm Deletion Syndrome
Chromosome 5p Deletion	Deletion 5p
Cri Du Chat	5p Partial Deletion Syndrome
Partial Deletion Of Short Arm Of Chromosome 5 Syndrome

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS03844	DNAH11 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	DNAH11	VGNC	VGNC:82415
Rattus norvegicus	DNAH11	RGD	RGD:621088
Mus musculus	DNAH11	MGD	MGI:1100864
Canis familiaris	DNAH11	VGNC	VGNC:40013
Macaca mulatta	DNAH11	VGNC	VGNC:71939

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站点地图隐私声明

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上海工商

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沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

DNAH11 - dynein axonemal heavy chain 11 Gene

关于 DNAH11

功能概要

DNAH11 基因产物(1)

DNAH11 蛋白结构

关联疾病

直系同源

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DNAH11 - dynein axonemal heavy chain 11 Gene

关于 DNAH11

功能概要

DNAH11 基因产物(1)

DNAH11 蛋白结构

关联疾病

相关产品

直系同源

热门区域

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