DNAI1 dynein axonemal intermediate chain 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DNAI1provided by HGNC
Official Full Name: dynein axonemal intermediate chain 1provided by HGNC
Primary source: HGNC:HGNC:2954
See related: Ensembl:ENSG00000122735 MIM:604366; AllianceGenome:HGNC:2954
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PCD; DIC1; ICS1; oda6; CILD1
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]
Expression: Restricted expression toward testis (RPKM 7.9) See more
Orthologs: mouse all
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Genomic context

Location:: 9p13.3

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (34458805..34520984)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (34477326..34539522)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (34458803..34520982)

Chromosome 9 - NC_000009.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.
Title: Identification and Classification of Novel Genetic Variants: En Route to the Diagnosis of Primary Ciliary Dyskinesia.
Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
Title: Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.
A novel mutation causing primary ciliary dyskinesia was found in Japanese patients.
Title: A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.
The worldwide involvement of DNAI1 mutations in PCD pathogenesis in families not preselected for ODA defects ranges from 7 to 10%.
Title: Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD).
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Two dynein genes, encoding ODA intermediate chain (DNAI1) and heavy chain (DNAH5), have been seen to be mutated in approximately 30-38% of the families
Title: Primary ciliary dyskinesia: improving the diagnostic approach.
DNAI1 gene mutation is not a common cause of primary ciliary dyskinesia.
Title: DNAI1 mutations explain only 2% of primary ciliary dykinesia.
Male carriers of the mutations always exhibit asthenozoospermia, whereas female carriers manifest no alterations in either fertility or pulmonary clearance.
Title: Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia.
A total of 10% of patients with PCD are estimated to harbor mutations in DNAI1; most occur as a common founder IVS1+2_3insT or in exons 13, 16, and 17.
Title: Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Kartagener syndrome MedGen: C4551906 OMIM: 244400 GeneReviews: Primary Ciliary Dyskinesia	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH18227 (e-PCR)
- UniSTS:40198

SHGC-33703 (e-PCR)
- UniSTS:40199

A008P35 (e-PCR)
- UniSTS:74767

RH104089 (e-PCR)
- UniSTS:98414

SHGC-32160 (e-PCR)
- UniSTS:28881

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cytoskeletal motor activity	TAS Traceable Author Statement more info	PubMed
enables dynein heavy chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables dynein light chain binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cilium movement	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cilium movement	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of left/right symmetry	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in epithelial cilium movement involved in extracellular fluid movement	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within flagellated sperm motility	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in heart development	IEA Inferred from Electronic Annotation more info
involved_in insulin receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in outer dynein arm assembly	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within outer dynein arm assembly	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in 9+2 motile cilium	IEA Inferred from Electronic Annotation more info
located_in centrosome	IEA Inferred from Electronic Annotation more info
located_in cilium	IDA Inferred from Direct Assay more info	PubMed
located_in cytoskeleton	TAS Traceable Author Statement more info	PubMed
located_in dynein axonemal particle	IEA Inferred from Electronic Annotation more info
located_in extracellular region	IEA Inferred from Electronic Annotation more info
located_in microtubule	IEA Inferred from Electronic Annotation more info
part_of outer dynein arm	IBA Inferred from Biological aspect of Ancestor more info
part_of outer dynein arm	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: dynein axonemal intermediate chain 1

Names: dynein, axonemal, intermediate polypeptide 1; immotile cilia syndrome 1; testis tissue sperm-binding protein Li 87P

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008127.1 RefSeqGene

Range

4993..67172

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001281428.2 → NP_001268357.1 dynein axonemal intermediate chain 1 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the central coding region, compared to variant 1. The encoded isoform (2) is longer, compared to isoform 1.

Source sequence(s)

AF091619, AI784188, DB033871, DB046118

Consensus CDS

CCDS75829.1

UniProtKB/TrEMBL

A0A087WWV9, B2RBF4

Related

ENSP00000480538.1, ENST00000614641.4

Conserved Domains (3) summary

COG2319
Location:324 → 681

WD40; WD40 repeat [General function prediction only]

sd00039
Location:339 → 385

7WD40; WD40 repeat [structural motif]

cl02567
Location:357 → 615

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
NM_012144.4 → NP_036276.1 dynein axonemal intermediate chain 1 isoform 1

See identical proteins and their annotated locations for NP_036276.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AF091619, AI784188, DB046118

Consensus CDS

CCDS6557.1

UniProtKB/Swiss-Prot

B7Z7U1, Q5T8G7, Q8NHQ7, Q9UEZ8, Q9UI46

UniProtKB/TrEMBL

A0A140VJI0, B2RBF4

Related

ENSP00000242317.4, ENST00000242317.9

Conserved Domains (3) summary

COG2319
Location:320 → 677

WD40; WD40 repeat [General function prediction only]

sd00039
Location:335 → 381

7WD40; WD40 repeat [structural motif]

cl02567
Location:353 → 611

WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...