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    DNAH11 dynein axonemal heavy chain 11 [ Homo sapiens (human) ]

    Gene ID: 8701, updated on 23-Jul-2017
    Official Symbol
    DNAH11provided by HGNC
    Official Full Name
    dynein axonemal heavy chain 11provided by HGNC
    Primary source
    HGNC:HGNC:2942
    See related
    Ensembl:ENSG00000105877 MIM:603339; Vega:OTTHUMG00000152524
    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
    CILD7; DNHBL; DPL11; DNAHBL; DNAHC11
    Summary
    This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]
    Orthologs
    Location:
    7p15.3
    Exon count:
    82
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 7 NC_000007.14 (21543215..21901568)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (21582833..21941451)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene RNA, U1 small nuclear 15, pseudogene Neighboring gene microRNA 1183 Neighboring gene Sp4 transcription factor Neighboring gene uncharacterized LOC105375183 Neighboring gene uncharacterized LOC107986775 Neighboring gene cell division cycle associated 7 like Neighboring gene uncharacterized LOC102724143 Neighboring gene Rap guanine nucleotide exchange factor 5 Neighboring gene uncharacterized LOC105375184

    • 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Ciliary dyskinesia, primary, 7
    MedGen: C2678473 OMIM: 611884 GeneReviews: Primary Ciliary Dyskinesia
    Compare labs

    NHGRI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    NHGRI GWA Catalog
    Common variation at 3p22.1 and 7p15.3 influences multiple myeloma risk.
    NHGRI GWA Catalog
    Discovery and refinement of loci associated with lipid levels.
    NHGRI GWA Catalog
    Genetic susceptibility to accelerated cognitive decline in the US Health and Retirement Study.
    NHGRI GWA Catalog
    Genetic variants at 6p21.1 and 7p15.3 are associated with risk of multiple cancers in Han Chinese.
    NHGRI GWA Catalog
    Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.
    NHGRI GWA Catalog
    Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
    NHGRI GWA Catalog
    The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
    NHGRI GWA Catalog
    • 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

    • FLJ30095, FLJ37699

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    ATP-dependent microtubule motor activity, minus-end-directed IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    dynein intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    dynein light chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    cilium movement IEA
    Inferred from Electronic Annotation
    more info
     
    determination of left/right symmetry IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    heart development IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of cilium beat frequency IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    axoneme IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Preferred Names
    dynein heavy chain 11, axonemal
    Names
    axonemal beta dynein heavy chain 11
    axonemal dynein heavy chain 11
    ciliary dynein heavy chain 11
    dynein, axonemal, heavy polypeptide 11
    dynein, ciliary, heavy chain 11

    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_012886.2 RefSeqGene

      Range
      5001..363354
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001277115.1NP_001264044.1  dynein heavy chain 11, axonemal

      See identical proteins and their annotated locations for NP_001264044.1

      Status: REVIEWED

      Source sequence(s)
      AC004002, AC005078, AC073102, AC099653, AC102952, AJ320497, AK054657, JQ247523, JQ247524
      Consensus CDS
      CCDS64602.1
      UniProtKB/Swiss-Prot
      Q96DT5
      UniProtKB/TrEMBL
      H9NAJ7, H9NAJ8, Q96NT7
      Related
      ENSP00000475939.1, OTTHUMP00000273492, ENST00000409508.7, OTTHUMT00000326582
      Conserved Domains (6) summary
      pfam03028
      Location:38204506
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:239812
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:13191722
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:30973441
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:34683680
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:24712741
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p7 Primary Assembly

      Range
      21543215..21901568
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018918.2 Alternate CHM1_1.1

      Range
      21583500..21941892
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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