DNAI1 - dynein axonemal intermediate chain 1 Gene

Homo sapiens

Also known as PCD; DIC1; ICS1; CILD1

Gene ID: 27019 | Gene type: protein coding

About 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).

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23664119	GOA

Biological Process GO Annotation	Evidence	Reference	Source
acts upstream of or within cilium movement	IMP IMP: Inferred from mutant phenotype	11231901	GOA
acts upstream of or within determination of left/right symmetry	IMP IMP: Inferred from mutant phenotype	11231901	GOA
acts upstream of or within flagellated sperm motility	IMP IMP: Inferred from mutant phenotype	11231901	GOA
acts upstream of or within outer dynein arm assembly	IMP IMP: Inferred from mutant phenotype	11231901	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cilium	IDA IDA: Inferred from direct assay	27120127	GOA
part of outer dynein arm	IMP IMP: Inferred from mutant phenotype	11231901	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNAI1 Protein Structure

WD40

0
200
400
600
699 a.a.

Protein Preferred Names

Protein Names

dynein axonemal intermediate chain 1

dynein, axonemal, intermediate polypeptide 1

DNAI1 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83629	Dynein Intermediate Chain 1 Antibody (YA3374)	WB	Human, Mouse, Rat

Related Diseases

Diseases

Alias

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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03855	DNAI1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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