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

    Gene ID: 1767, updated on 10-Dec-2024

    Summary

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    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
    mouse all
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    Genomic context

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    See DNAH5 in Genome Data Viewer
    Location:
    5p15.2
    Exon count:
    86
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (13690328..14011818, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (13627358..13948914, complement)
    RS_2024_09 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

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family. Zhang J, et al. Eur Arch Otorhinolaryngol, 2014 Jun. PMID 24150548
    2. Motility of human sperm without outer dynein arms. Jouannet P, et al. J Submicrosc Cytol, 1983 Jan. PMID 6221120
    3. Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. Failly M, et al. J Med Genet, 2009 Apr. PMID 19357118
    4. A novel mutation of the axonemal dynein heavy chain gene 5 (DNAH5) in a Japanese neonate with asplenia syndrome. Tate G, et al. Med Mol Morphol, 2015 Jun. PMID 24912412
    5. DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease. Lee JH, et al. Respir Res, 2014 Aug 20. PMID 25134640, Free PMC Article

    See all (67) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma.
      Title: Identification and validation of a prognostic-related mutant gene DNAH5 for hepatocellular carcinoma.
    2. Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.
      Title: Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis.
    3. DNAH5 gene and its correlation with linc02220 expression and sperm characteristics.
      Title: DNAH5 gene and its correlation with linc02220 expression and sperm characteristics.
    4. Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness.
      Title: Genome-wide association study in minority children with asthma implicates DNAH5 in bronchodilator responsiveness.
    5. Novel homozygous mutations of DNAH5 in Kartagener syndrome.
      Title: Novel homozygous mutations of DNAH5 in Kartagener syndrome.
    6. Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review.
      Title: Novel compound heterozygous mutations of DNAH5 identified in a pediatric patient with Kartagener syndrome: case report and literature review.
    7. Genome-wide association analysis of cognitive function in Danish long-lived individuals.
      Title: Genome-wide association analysis of cognitive function in Danish long-lived individuals.
    8. We identified two rare nonsynonymous variants in the dynein axonemal heavy chain 5 gene (DNAH5): a previously reported variant c.7502G > C; p.(R2501P), and a novel variant c.12043 T > G; p.(Y4015D). . Individual 2 had non-syndromic SI and DD. In individual 2, one rare variant (c.9110A > G;p.(H3037R)) in the dynein axonemal heavy chain 11 gene (DNAH11), coding for another component of the outer dynein arm, was identified.
      Title: Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.
    9. Both DNAH5 and ADGRV1 contribute to ciliary function.
      Title: A novel role for ciliary function in atopy: ADGRV1 and DNAH5 interactions.
    10. A novel mutation causing primary ciliary dyskinesia was found in Japanese patients.
      Title: A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia.
    Submit: New GeneRIF Correction See all GeneRIFs (25)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cilium assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within cilium movement IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cilium movement involved in cell motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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
    		  
    involved_in establishment of localization in cell 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 lateral ventricle development 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+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

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    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)

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    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_001369.3 → NP_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:3932 → 4613
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:248 → 802
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1405 → 1807
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:3202 → 3547
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:3575 → 3791
      AAA_9; ATP-binding dynein motor region D5
      pfam16999
      Location:3206 → 3303
      V-ATPase_G_2; Vacuolar (H+)-ATPase G subunit
      cl21455
      Location:1942 → 2173
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    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_017009177.2 → XP_016864666.1  dynein axonemal heavy chain 5 isoform X3

      UniProtKB/TrEMBL
      A0A7P0Z455

    2. XM_005248262.4 → XP_005248319.2  dynein axonemal heavy chain 5 isoform X1

      UniProtKB/TrEMBL
      A0A7P0Z455
      Related
      ENSP00000505288.1, ENST00000681290.1

    3. XM_047416886.1 → XP_047272842.1  dynein axonemal heavy chain 5 isoform X2

      UniProtKB/TrEMBL
      A0A7P0Z455

    4. XM_017009179.3 → XP_016864668.1  dynein axonemal heavy chain 5 isoform X4

      UniProtKB/TrEMBL
      A0A7P0Z455
      Conserved Domains (4) summary
      pfam03028
      Location:3605 → 4291
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08385
      Location:1 → 473
      DHC_N1; Dynein heavy chain, N-terminal region 1
      pfam08393
      Location:1080 → 1478
      DHC_N2; Dynein heavy chain, N-terminal region 2
      cl25937
      Location:1314 → 3956
      MT; Microtubule-binding stalk of dynein motor

    5. XM_017009185.1 → XP_016864674.1  dynein axonemal heavy chain 5 isoform X9

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

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

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

      UniProtKB/TrEMBL
      A0A7P0Z455

    9. XM_017009181.2 → XP_016864670.1  dynein axonemal heavy chain 5 isoform X6

      UniProtKB/TrEMBL
      A0A7P0Z455

    10. XM_017009182.2 → XP_016864671.1  dynein axonemal heavy chain 5 isoform X7

      UniProtKB/TrEMBL
      A0A7P0Z455

    11. XM_017009184.2 → XP_016864673.1  dynein axonemal heavy chain 5 isoform X8

    12. XM_017009187.2 → XP_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_054351940.1 → XP_054207915.1  dynein axonemal heavy chain 5 isoform X3

      UniProtKB/TrEMBL
      A0A7P0Z455

    2. XM_054351938.1 → XP_054207913.1  dynein axonemal heavy chain 5 isoform X1

      UniProtKB/TrEMBL
      A0A7P0Z455

    3. XM_054351939.1 → XP_054207914.1  dynein axonemal heavy chain 5 isoform X2

      UniProtKB/TrEMBL
      A0A7P0Z455

    4. XM_054351941.1 → XP_054207916.1  dynein axonemal heavy chain 5 isoform X4

      UniProtKB/TrEMBL
      A0A7P0Z455

    5. XM_054351946.1 → XP_054207921.1  dynein axonemal heavy chain 5 isoform X9

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

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

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

      UniProtKB/TrEMBL
      A0A7P0Z455

    9. XM_054351943.1 → XP_054207918.1  dynein axonemal heavy chain 5 isoform X6

      UniProtKB/TrEMBL
      A0A7P0Z455

    10. XM_054351944.1 → XP_054207919.1  dynein axonemal heavy chain 5 isoform X7

      UniProtKB/TrEMBL
      A0A7P0Z455

    11. XM_054351945.1 → XP_054207920.1  dynein axonemal heavy chain 5 isoform X8

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

    RNA

    1. XR_008487093.1 RNA Sequence

    2. XR_008487094.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TE73.3 GenPept UniProtKB/Swiss-Prot:Q8TE73

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