DNAI1 - dynein axonemal intermediate chain 1 Gene

中文名称：动力蛋白轴丝中间链 1

种属: Homo sapiens

同用名: PCD; DIC1; ICS1; CILD1

基因 ID: 27019 | 基因类型: protein coding

关于 DNAI1

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:34,458,805-34,520,984 (from NCBI)

This gene has 9 transcripts (splice variants), 214 orthologues, 7 paralogues and is associated with 2 phenotypes. Restricted expression toward testis (RPKM 7.9).

功能概要

该基因编码动力蛋白中间链家族的成员。编码的蛋白质是呼吸纤毛中动力蛋白复合物的一部分。内臂和外臂动力蛋白在轴丝的双微管之间架起桥梁，是负责轴丝滑动运动的产生力的蛋白质。中间链和轻链被认为构成动力蛋白臂的基部，有助于介导附着，也可能参与调节动力蛋白活性。该基因的突变导致与原发性纤毛运动障碍和 Kartagener 综合征相关的纤毛超微结构和功能异常。可变剪接导致多个转录本变体。[RefSeq 提供，2013 年 7 月]

This gene encodes a member of the dynein intermediate chain family. The encoded protein is part of the dynein complex in respiratory cilia. The inner- and outer-arm dyneins, which bridge between the doublet microtubules in axonemes, are the force-generating proteins responsible for the sliding movement in axonemes. The intermediate and light chains, thought to form the base of the dynein arm, help mediate attachment and may also participate in regulating dynein activity. Mutations in this gene result in abnormal ciliary ultrastructure and function associated with primary ciliary dyskinesia and Kartagener syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

DNAI1 基因产物(2)

mRNA	Protein	Name
NM_001281428.2	NP_001268357.1	dynein axonemal intermediate chain 1 isoform 2
NM_012144.4	NP_036276.1	dynein axonemal intermediate chain 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 protein binding	IPI IPI: 通过物理相互作用推断	23664119	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
acts upstream of or within cilium movement	IMP IMP: 通过突变表型推断	11231901	GOA
acts upstream of or within determination of left/right symmetry	IMP IMP: 通过突变表型推断	11231901	GOA
acts upstream of or within flagellated sperm motility	IMP IMP: 通过突变表型推断	11231901	GOA
acts upstream of or within outer dynein arm assembly	IMP IMP: 通过突变表型推断	11231901	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in cilium	IDA IDA: 通过直接分析推断	27120127	GOA
part of outer dynein arm	IMP IMP: 通过突变表型推断	11231901	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

DNAI1 蛋白结构

WD40

0
200
400
600
699 a.a.

蛋白主名

其他名称

dynein axonemal intermediate chain 1

dynein, axonemal, intermediate polypeptide 1

DNAI1 抗体

目录号	产品名	应用	反应物种
HY-P83629	Dynein Intermediate Chain 1 Antibody (YA3374)	WB	Human, Mouse, Rat

关联疾病

疾病名称

别名

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

Kartagener Syndrome

Kartagener'S Syndrome

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

Bronchiectasis

Polynesian Bronchiectasis	Kartagener Syndrome
Bronchiectasis Nos

Situs Inversus

Situs Inversus Viscerum	Laterality Sequence
Complete Transposition	Siv

Dextrocardia

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

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

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

Joubert Syndrome 10

JBTS10

Joubert Syndrome, Type 10

Paranasal Sinus Disease

Paranasal Sinus Diseases

Disorder Of Nasal Sinus

Chronic Maxillary Sinusitis

Chronic Antritis

Middle Ear Disease

Middle Ear Anomaly

Disorder Of Middle Ear

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

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

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

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

Transposition Of The Great Arteries, Dextro-Looped

Transposition Of The Great Arteries	DTGA1
Dextro-Looped Transposition Of The Great Arteries	DTGA
Congenitally Uncorrected Transposition Of The Great Arteries	Congenitally Uncorrected Transposition Of The Great Vessels
D-Tga	Isolated Ventriculoarterial Discordance
Ventriculoarterial Discordance With Atrioventricular Concordance	Dextro-Transposition Of The Great Arteries
Transposition Of The Great Vessels	Great Vessels Transposition
Transposition Of The Great Arteries, Dextro-Looped 1	Arteries, Great, Transposition, Dextro-Looped
Ventriculoarterial Discordance, Isolated	D-Transposition Of The Great Arteries
Complete Transposition	Tga
Tgv	Transposition Of Great Vessels
Transposition Of The Great Arteries Dextro-Looped 1	Dextro-Looped Transposition Of The Great Arteries 1
Discordant Ventriculoarterial Connection	Complete Transposition Of Great Vessels
Great Vessels Complete Transposition	Total Great Vessel Transposition
Transposition Of Great Arteries	Complete Tga - [Transposition Of The Great Arteries]
Tga - [Transposition Of Great Arteries]	Tgv - [Transposition Of Great Vessels]
Transposition Of Great Vessels Nos	Transposed Vessels Nos

Vas Deferens, Congenital Bilateral Aplasia Of

Congenital Bilateral Absence Of Vas Deferens	CBAVD
Cavd	Congenital Bilateral Aplasia Of Vas Deferens
Congenital Bilateral Absence Of The Vas Deferens	Congenital Bilateral Agenesis Of Vas Deferens
Absence Of Vas Deferens	Absent Vasa
Congenital Absence Of Vas Deferens	Congenital Aplasia Of Vas Deferens
Absent Vas Deferens	Vas Deferens, Congenital Bilateral Absence

Spermatogenic Failure

Azoospermia	Spgf
Spermatogenic Failure, Susceptibility To	Absent Sperm
Aspermatogenesis	Infertility Due To Azoospermia
Hypospermatogenesis	Azoospermatism

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-RS03855	DNAI1 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	DNAI1	VGNC	VGNC:61547
Canis familiaris	DNAI1	VGNC	VGNC:40020
Bos taurus	DNAI1	VGNC	VGNC:28129
Mus musculus	DNAI1	MGD	MGI:1916172
Macaca mulatta	DNAI1	VGNC	VGNC:71944
Rattus norvegicus	DNAI1	RGD	RGD:1565671

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

DNAI1 - dynein axonemal intermediate chain 1 Gene

关于 DNAI1

功能概要

DNAI1 基因产物(2)

DNAI1 蛋白结构

DNAI1 抗体

关联疾病

直系同源

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DNAI1 - dynein axonemal intermediate chain 1 Gene

关于 DNAI1

功能概要

DNAI1 基因产物(2)

DNAI1 蛋白结构

DNAI1 抗体

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z