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

    Gene ID: 1767, updated on 17-Jun-2024

    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; AllianceGenome:HGNC:2950
    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See DNAH5 in Genome Data Viewer
    Location:
    5p15.2
    Exon count:
    86
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (13690328..14011818, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (13627358..13948914, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (13690437..13944797, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124900942 Neighboring gene ribosomal protein L29 pseudogene 13 Neighboring gene meiotic recombination hotspot J Neighboring gene MED14-independent group 3 enhancer GRCh37_chr5:13858976-13860175 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15932 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:14034965-14035492 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:14035876-14037075 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:14055383-14055883 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15933 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:14108867-14110066 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14119192-14119747 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14118635-14119191 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:14125559-14126060 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15934 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15935 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15936 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15937 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15938 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22387 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22388 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14174256-14174781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22390 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22389 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22393 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22394 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22395 Neighboring gene trio Rho guanine nucleotide exchange factor Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22398 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:14254265-14254435 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22399 Neighboring gene Sharpr-MPRA regulatory region 5150 Neighboring gene uncharacterized LOC124900943 Neighboring gene OCT4 hESC enhancer GRCh37_chr5:14346974-14347475 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14358109-14358798 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr5:14399912-14401111 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:14406263-14407462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14417547-14418093 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14445485-14446012 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:14446013-14446539 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22401 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22402 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22403 Neighboring gene Sharpr-MPRA regulatory region 14564 Neighboring gene small nucleolar RNA, C/D box 170

    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?

    Phenotypes

    Associated conditions

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

    EBI GWAS Catalog

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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ46759, KIAA1603

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables ATP hydrolysis activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables dynein intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables dynein light intermediate chain binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables minus-end-directed microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in 9+0 motile cilium IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in 9+2 motile cilium IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in 9+2 motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in axoneme IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
     
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
     
    located_in motile cilium IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of outer dynein arm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of outer dynein arm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of outer dynein arm IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 

    General protein information

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

    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_013081.2 RefSeqGene

      Range
      4793..259153
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001369.3NP_001360.1  dynein axonemal heavy chain 5

      See identical proteins and their annotated locations for NP_001360.1

      Status: REVIEWED

      Source sequence(s)
      AC016546, AC016576, AC026811
      Consensus CDS
      CCDS3882.1
      UniProtKB/Swiss-Prot
      Q8TE73, Q92860, Q96L74, Q9H5S7, Q9HCG9
      UniProtKB/TrEMBL
      A0A7P0Z455
      Related
      ENSP00000265104.4, ENST00000265104.5
      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: 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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      13690328..14011818 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017009177.2XP_016864666.1  dynein axonemal heavy chain 5 isoform X3

      UniProtKB/TrEMBL
      A0A7P0Z455
    2. XM_005248262.4XP_005248319.2  dynein axonemal heavy chain 5 isoform X1

      UniProtKB/TrEMBL
      A0A7P0Z455
      Related
      ENSP00000505288.1, ENST00000681290.1
    3. XM_047416886.1XP_047272842.1  dynein axonemal heavy chain 5 isoform X2

      UniProtKB/TrEMBL
      A0A7P0Z455
    4. XM_017009179.3XP_016864668.1  dynein axonemal heavy chain 5 isoform X4

      UniProtKB/TrEMBL
      A0A7P0Z455
      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_017009185.1XP_016864674.1  dynein axonemal heavy chain 5 isoform X9

    6. XM_017009186.2XP_016864675.1  dynein axonemal heavy chain 5 isoform X10

    7. XM_017009188.2XP_016864677.1  dynein axonemal heavy chain 5 isoform X12

    8. XM_017009180.2XP_016864669.1  dynein axonemal heavy chain 5 isoform X5

      UniProtKB/TrEMBL
      A0A7P0Z455
    9. XM_017009181.2XP_016864670.1  dynein axonemal heavy chain 5 isoform X6

      UniProtKB/TrEMBL
      A0A7P0Z455
    10. XM_017009182.2XP_016864671.1  dynein axonemal heavy chain 5 isoform X7

      UniProtKB/TrEMBL
      A0A7P0Z455
    11. XM_017009184.2XP_016864673.1  dynein axonemal heavy chain 5 isoform X8

    12. XM_017009187.2XP_016864676.1  dynein axonemal heavy chain 5 isoform X11

    RNA

    1. XR_001742034.2 RNA Sequence

    2. XR_001742035.2 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      13627358..13948914 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054351940.1XP_054207915.1  dynein axonemal heavy chain 5 isoform X3

      UniProtKB/TrEMBL
      A0A7P0Z455
    2. XM_054351938.1XP_054207913.1  dynein axonemal heavy chain 5 isoform X1

      UniProtKB/TrEMBL
      A0A7P0Z455
    3. XM_054351939.1XP_054207914.1  dynein axonemal heavy chain 5 isoform X2

      UniProtKB/TrEMBL
      A0A7P0Z455
    4. XM_054351941.1XP_054207916.1  dynein axonemal heavy chain 5 isoform X4

      UniProtKB/TrEMBL
      A0A7P0Z455
    5. XM_054351946.1XP_054207921.1  dynein axonemal heavy chain 5 isoform X9

    6. XM_054351947.1XP_054207922.1  dynein axonemal heavy chain 5 isoform X10

    7. XM_054351949.1XP_054207924.1  dynein axonemal heavy chain 5 isoform X12

    8. XM_054351942.1XP_054207917.1  dynein axonemal heavy chain 5 isoform X5

      UniProtKB/TrEMBL
      A0A7P0Z455
    9. XM_054351943.1XP_054207918.1  dynein axonemal heavy chain 5 isoform X6

      UniProtKB/TrEMBL
      A0A7P0Z455
    10. XM_054351944.1XP_054207919.1  dynein axonemal heavy chain 5 isoform X7

      UniProtKB/TrEMBL
      A0A7P0Z455
    11. XM_054351945.1XP_054207920.1  dynein axonemal heavy chain 5 isoform X8

    12. XM_054351948.1XP_054207923.1  dynein axonemal heavy chain 5 isoform X11

    RNA

    1. XR_008487093.1 RNA Sequence

    2. XR_008487094.1 RNA Sequence