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

    Gene ID: 27019, updated on 23-Nov-2023

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DNAI1 in Genome Data Viewer
    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_000009.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34380811-34381416 Neighboring gene uncharacterized LOC124902144 Neighboring gene sperm microtubule inner protein 6 Neighboring gene family with sequence similarity 219 member A Neighboring gene uncharacterized LOC124902145 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19845 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34456734-34457234 Neighboring gene OCT4-H3K27ac hESC enhancer GRCh37_chr9:34458366-34458906 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34482439-34482941 Neighboring gene RN7SK pseudogene 24 Neighboring gene Sharpr-MPRA regulatory regions 5304 and 15183 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:34512715-34513467 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34521732-34522284 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19847 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19848 Neighboring gene energy homeostasis associated Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34546795-34547294 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr9:34555021-34555613 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr9:34568415-34568949 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

    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
     
    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

    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)

    NEW Try the new Transcript table

    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/TrEMBL
      A0A087WWV9, B2RBF4
      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
      B7Z7U1, Q5T8G7, Q8NHQ7, Q9UEZ8, Q9UI46
      UniProtKB/TrEMBL
      A0A140VJI0, B2RBF4
      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: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p14 Primary Assembly

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060933.1 Alternate T2T-CHM13v2.0

      Range
      34477326..34539522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)