DNAI1 - dynein axonemal intermediate chain 1 Gene

Also Known as PCD; DIC1; ICS1; CILD1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 27019

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	23664119	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

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 Set	/	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
Others	DNAI1	NCBI