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

    Gene ID: 27019, updated on 14-Jun-2016
    Official Symbol
    DNAI1provided by HGNC
    Official Full Name
    dynein axonemal intermediate chain 1provided by HGNC
    Primary source
    HGNC:HGNC:2954
    See related
    Ensembl:ENSG00000122735 HPRD:05080; MIM:604366; Vega:OTTHUMG00000019825
    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]
    Orthologs
    Location:
    9p13.3
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 9 NC_000009.12 (34458752..34520989)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34458750..34520987)

    Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene KIAA1161 Neighboring gene chromosome 9 open reading frame 24 Neighboring gene family with sequence similarity 219 member A Neighboring gene RNA, 7SK small nuclear pseudogene 24 Neighboring gene energy homeostasis associated Neighboring gene uncharacterized LOC105376023 Neighboring gene ciliary neurotrophic factor receptor Neighboring gene CNTFR antisense RNA 1

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    • Huntington's disease, organism-specific biosystem (from KEGG)
      Huntington's disease, organism-specific biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    • Huntington's disease, conserved biosystem (from KEGG)
      Huntington's disease, conserved biosystemHuntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • MGC26204

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    motor activity IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    outer dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    cilium TAS
    Traceable Author Statement
    more info
    PubMed 
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    cytoskeleton TAS
    Traceable Author Statement
    more info
    PubMed 
    microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    outer dynein arm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Preferred Names
    dynein intermediate chain 1, axonemal
    Names
    dynein, axonemal, intermediate chain 1
    dynein, axonemal, intermediate polypeptide 1
    immotile cilia syndrome 1
    testis tissue sperm-binding protein Li 87P

    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
      4940..67177
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001281428.1NP_001268357.1  dynein intermediate chain 1, axonemal 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, ENST00000614641
      Conserved Domains (2) summary
      COG2319
      Location:324681
      WD40; WD40 repeat [General function prediction only]
      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_012144.3NP_036276.1  dynein intermediate chain 1, axonemal 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
      Related
      ENSP00000242317, OTTHUMP00000021280, ENST00000242317, OTTHUMT00000052192
      Conserved Domains (2) summary
      COG2319
      Location:320677
      WD40; WD40 repeat [General function prediction only]
      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 Annotation Release 108 details...

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000009.12 Reference GRCh38.p7 Primary Assembly

      Range
      34458752..34520989
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011517848.1XP_011516150.1  

      Conserved Domains (2) summary
      COG2319
      Location:338595
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:357530
      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. XM_017014625.1XP_016870114.1  

    3. XM_011517847.2XP_011516149.1  

      Conserved Domains (2) summary
      COG2319
      Location:324609
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:357604
      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 ...
    4. XM_011517846.1XP_011516148.1  

      Conserved Domains (2) summary
      COG2319
      Location:324609
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:357604
      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 ...
    5. XM_011517849.1XP_011516151.1  

      Conserved Domains (2) summary
      COG2319
      Location:324545
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:326464
      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 ...
    6. XM_011517850.2XP_011516152.1  

      Conserved Domains (2) summary
      COG2319
      Location:326443
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:326440
      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 ...
    7. XM_006716758.3XP_006716821.1  

      Conserved Domains (2) summary
      COG2319
      Location:143500
      WD40; WD40 repeat [General function prediction only]
      cl02567
      Location:176434
      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 ...

    RNA

    1. XR_929233.1 RNA Sequence

    2. XR_929232.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018920.2 Alternate CHM1_1.1

      Range
      34458532..34520778
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)