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    DNAH5 dynein axonemal heavy chain 5 [ Homo sapiens (human) ]

    Gene ID: 1767, updated on 21-Oct-2018

    Summary

    Official Symbol
    DNAH5provided by HGNC
    Official Full Name
    dynein axonemal heavy chain 5provided by HGNC
    Primary source
    HGNC:HGNC:2950
    See related
    Ensembl:ENSG00000039139 MIM:603335; Vega:OTTHUMG00000090533
    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
    HL1; PCD; CILD3; KTGNR; DNAHC5
    Summary
    This gene encodes a dynein protein, which is part of a microtubule-associated motor protein complex consisting of heavy, light, and intermediate chains. This protein is an axonemal heavy chain dynein. It functions as a force-generating protein with ATPase activity, whereby the release of ADP is thought to produce the force-producing power stroke. Mutations in this gene cause primary ciliary dyskinesia type 3, as well as Kartagener syndrome, which are both diseases due to ciliary defects. [provided by RefSeq, Oct 2009]
    Expression
    Biased expression in lung (RPKM 1.0), thyroid (RPKM 0.6) and 10 other tissues See more
    Orthologs

    Genomic context

    See DNAH5 in Genome Data Viewer
    Location:
    5p15.2
    Exon count:
    86
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 5 NC_000005.10 (13690328..14011829, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (13690437..14011841, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374660 Neighboring gene neudesin neurotrophic factor pseudogene 3 Neighboring gene ribosomal protein L29 pseudogene 13 Neighboring gene meiotic recombination hotspot J Neighboring gene trio Rho guanine nucleotide exchange factor Neighboring gene small nucleolar RNA, C/D box 170 Neighboring gene OTU deubiquitinase with linear linkage specificity like

    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 Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Ciliary dyskinesia, primary, 3
    MedGen: C1837618 OMIM: 608644 GeneReviews: Primary Ciliary Dyskinesia
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis of genetic variants associated with allergic rhinitis and grass sensitization and their interaction with birth order.
    NHGRI GWA Catalog
    A genome-wide search for loci interacting with known prostate cancer risk-associated genetic variants.
    NHGRI GWA Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    NHGRI GWA Catalog
    Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study.
    NHGRI GWA Catalog
    Identification of a candidate gene for astigmatism.
    NHGRI GWA Catalog

    Pathways from BioSystems

    • 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...

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ46759, KIAA1603

    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
    PubMed 
    dynein intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    dynein light chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    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
     
    lateral ventricle development IEA
    Inferred from Electronic Annotation
    more info
     
    microtubule-based movement IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    outer dynein arm assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    outer dynein arm assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    9+2 motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    outer dynein arm IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    outer dynein arm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    outer dynein arm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

    Preferred Names
    dynein heavy chain 5, axonemal
    Names
    axonemal beta dynein heavy chain 5
    ciliary dynein heavy chain 5
    dynein, axonemal, heavy polypeptide 5

    NCBI Reference Sequences (RefSeq)

    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_013081.1 RefSeqGene

      Range
      5001..259153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001369.2NP_001360.1  dynein heavy chain 5, axonemal

      See identical proteins and their annotated locations for NP_001360.1

      Status: REVIEWED

      Source sequence(s)
      AB046823, AY045575, CA314998
      Consensus CDS
      CCDS3882.1
      UniProtKB/Swiss-Prot
      Q8TE73
      Related
      ENSP00000265104.4, OTTHUMP00000115635, ENST00000265104.4, OTTHUMT00000207057
      Conserved Domains (7) summary
      pfam03028
      Location:39324613
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:248802
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:14051807
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:32023547
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:35753791
      AAA_9; ATP-binding dynein motor region D5
      pfam16999
      Location:32063303
      V-ATPase_G_2; Vacuolar (H+)-ATPase G subunit
      cl21455
      Location:19422173
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p12 Primary Assembly

      Range
      13690328..14011829 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009177.1XP_016864666.1  dynein heavy chain 5, axonemal isoform X2

    2. XM_005248262.3XP_005248319.2  dynein heavy chain 5, axonemal isoform X1

    3. XM_024454389.1XP_024310157.1  dynein heavy chain 5, axonemal isoform X5

      Conserved Domains (4) summary
      pfam03028
      Location:34684154
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:1336
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:9431341
      DHC_N2; Dynein heavy chain, N-terminal region 2
      cl25937
      Location:11773819
      MT; Microtubule-binding stalk of dynein motor
    4. XM_024454388.1XP_024310156.1  dynein heavy chain 5, axonemal isoform X3

      Conserved Domains (4) summary
      pfam03028
      Location:36054291
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:1473
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:10801478
      DHC_N2; Dynein heavy chain, N-terminal region 2
      cl25937
      Location:13143956
      MT; Microtubule-binding stalk of dynein motor
    5. XM_017009178.1XP_016864667.1  dynein heavy chain 5, axonemal isoform X3

      Conserved Domains (4) summary
      pfam03028
      Location:36054291
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:1473
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:10801478
      DHC_N2; Dynein heavy chain, N-terminal region 2
      cl25937
      Location:13143956
      MT; Microtubule-binding stalk of dynein motor
    6. XM_017009179.2XP_016864668.1  dynein heavy chain 5, axonemal isoform X3

      Conserved Domains (4) summary
      pfam03028
      Location:36054291
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:1473
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:10801478
      DHC_N2; Dynein heavy chain, N-terminal region 2
      cl25937
      Location:13143956
      MT; Microtubule-binding stalk of dynein motor
    7. XM_017009185.1XP_016864674.1  dynein heavy chain 5, axonemal isoform X10

    8. XM_017009186.1XP_016864675.1  dynein heavy chain 5, axonemal isoform X11

    9. XM_017009188.1XP_016864677.1  dynein heavy chain 5, axonemal isoform X13

    10. XM_017009180.1XP_016864669.1  dynein heavy chain 5, axonemal isoform X4

    11. XM_017009181.1XP_016864670.1  dynein heavy chain 5, axonemal isoform X6

    12. XM_017009182.1XP_016864671.1  dynein heavy chain 5, axonemal isoform X7

    13. XM_017009183.1XP_016864672.1  dynein heavy chain 5, axonemal isoform X8

    14. XM_017009184.1XP_016864673.1  dynein heavy chain 5, axonemal isoform X9

    15. XM_017009187.1XP_016864676.1  dynein heavy chain 5, axonemal isoform X12

    RNA

    1. XR_001742034.1 RNA Sequence

    2. XR_001742035.1 RNA Sequence

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