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

Gene ID: 27019, updated on 19-Sep-2021

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
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; 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
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Genomic context

See DNAI1 in Genome Data Viewer
Location:
9p13.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (34458805..34520984)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34458803..34520982)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene chromosome 9 open reading frame 24 Neighboring gene family with sequence similarity 219 member A Neighboring gene Sharpr-MPRA regulatory region 4178 Neighboring gene RN7SK pseudogene 24 Neighboring gene Sharpr-MPRA regulatory regions 5304 and 15183 Neighboring gene energy homeostasis associated Neighboring gene uncharacterized LOC105376023 Neighboring gene ciliary neurotrophic factor receptor Neighboring gene CNTFR antisense RNA 1

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26204

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
PubMed 
enables dynein light chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
involved_in cilium movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in 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
 
involved_in 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 microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in outer dynein arm assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in 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 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
PubMed 
part_of outer dynein arm IMP
Inferred from Mutant Phenotype
more info
PubMed 

General protein information

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

  1. NG_008127.1 RefSeqGene

    Range
    4993..67172
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001281428.2NP_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/Swiss-Prot
    Q9UI46
    UniProtKB/TrEMBL
    A0A087WWV9
    Related
    ENSP00000480538.1, ENST00000614641.4
    Conserved Domains (3) summary
    COG2319
    Location:324681
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:339385
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:357615
    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 ...
  2. NM_012144.4NP_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
    Q9UI46
    UniProtKB/TrEMBL
    A0A140VJI0
    Related
    ENSP00000242317.4, ENST00000242317.9
    Conserved Domains (3) summary
    COG2319
    Location:320677
    WD40; WD40 repeat [General function prediction only]
    sd00039
    Location:335381
    7WD40; WD40 repeat [structural motif]
    cl02567
    Location:353611
    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 ...

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    34458805..34520984
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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