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    DNAH1 dynein axonemal heavy chain 1 [ Homo sapiens (human) ]

    Gene ID: 25981, updated on 10-Dec-2024

    Summary

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    Official Symbol
    DNAH1provided by HGNC
    Official Full Name
    dynein axonemal heavy chain 1provided by HGNC
    Primary source
    HGNC:HGNC:2940
    See related
    Ensembl:ENSG00000114841 MIM:603332; AllianceGenome:HGNC:2940
    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
    HL11; HDHC7; HL-11; CILD37; DNAHC1; HSRF-1; SPGF18; XLHSRF-1
    Summary
    This gene encodes an inner dynein arm heavy chain that provides structural support between the radial spokes and the outer doublet of the sperm tail. Naturally occurring mutations in this gene are associated with primary ciliary dyskinesia and multiple morphological anomalies of the flagella that result in asthenozoospermia and male infertility. Mice with a homozygous knockout of the orthologous gene are viable but have reduced sperm motility and are infertile. [provided by RefSeq, Feb 2017]
    Expression
    Broad expression in testis (RPKM 4.1), bone marrow (RPKM 2.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See DNAH1 in Genome Data Viewer
    Location:
    3p21.1
    Exon count:
    80
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52310920..52400492)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52349219..52433474)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (52350335..52434508)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr3:52321476-52322675 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52324415-52324915 Neighboring gene GLYCTK antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52332967-52333837 Neighboring gene glycerate kinase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52333838-52334707 Neighboring gene microRNA 135a-1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52344635-52345552 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19940 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:52350849-52351787 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52377569-52378070 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52385639-52386434 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:52396307-52396860 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14440 Neighboring gene protein phosphatase 2 regulatory subunit B'gamma pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52443144-52443692 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:52443693-52444241 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14443 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19941 Neighboring gene BRCA1 associated deubiquitinase 1 Neighboring gene PHD finger protein 7

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. Teratozoospermia: spotlight on the main genetic actors in the human. Coutton C, et al. Hum Reprod Update, 2015 Jul-Aug. PMID 25888788
    2. Variation in DNAH1 may contribute to primary ciliary dyskinesia. Imtiaz F, et al. BMC Med Genet, 2015 Mar 17. PMID 25927852, Free PMC Article
    3. Novel biallelic variants in DNAH1 cause multiple morphological abnormalities of sperm flagella with favorable outcomes of fertility after ICSI in Han Chinese males. Long S, et al. Andrology, 2024 Feb. PMID 37302001
    4. Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella. Wang M, et al. Asian J Androl, 2023. PMID 36510862, Free PMC Article
    5. Patients with multiple morphological abnormalities of the sperm flagella due to DNAH1 mutations have a good prognosis following intracytoplasmic sperm injection. Wambergue C, et al. Hum Reprod, 2016 Jun. PMID 27094479

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
      Title: Primary Ciliary Dyskinesia Associated Disease-Causing Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
    2. Novel biallelic variants in DNAH1 cause multiple morphological abnormalities of sperm flagella with favorable outcomes of fertility after ICSI in Han Chinese males.
      Title: Novel biallelic variants in DNAH1 cause multiple morphological abnormalities of sperm flagella with favorable outcomes of fertility after ICSI in Han Chinese males.
    3. Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
      Title: Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.
    4. Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella.
      Title: Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella.
    5. Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice.
      Title: Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice.
    6. Mutational landscape of DNAH1 in Chinese patients with multiple morphological abnormalities of the sperm flagella: cohort study and literature review.
      Title: Mutational landscape of DNAH1 in Chinese patients with multiple morphological abnormalities of the sperm flagella: cohort study and literature review.
    7. Novel Biallelic DNAH1 Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella.
      Title: Novel Biallelic DNAH1 Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella.
    8. Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection.
      Title: Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection.
    9. DNAH1 variations were identified in 6 of 287 patients, including 8 heterozygous variations in exons and a splicing site. 4 variations (g.52400764G>C, g.52409336C>T, g.52430999_52431000del, g.52412624C>A) had already been registered in the 1000 Genomes and Exome Aggregation Consortium databases. The other novel variations (g.52418050del, g.52404762T>G, g.52430536del, g.52412620del) were all predicted to be pathogenic.
      Title: Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study.
    10. Pedigree analysis supported the notion that the combination of DNAH1 gene mutations 52430998CCT>C and 52409336C>T and 52428484G>T alone were associated with MMAF. CONCLUSION(S): These DNAH1 gene mutations may be associated with DFS and infertility in the Han population.
      Title: DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    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
    Ciliary dyskinesia, primary, 37
    MedGen: C4539798 OMIM: 617577 GeneReviews: Not available
    		not available
    Spermatogenic failure 18
    MedGen: C4539783 OMIM: 617576 GeneReviews: Not available
    		not available

    EBI GWAS Catalog

    Description
    Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
    EBI GWAS Catalog
    Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding 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 microtubule motor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables minus-end-directed microtubule motor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in cilium-dependent cell motility NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in epithelial cilium movement involved in extracellular fluid movement IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in flagellated sperm motility IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in flagellated sperm motility IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within inner dynein arm assembly IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in sperm axoneme assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of axonemal dynein complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in axoneme IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    part_of dynein complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular region IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of inner dynein arm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in microtubule IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in sperm flagellum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    dynein axonemal heavy chain 1
    Names
    axonemal beta dynein heavy chain 1
    ciliary dynein heavy chain 1
    dynein heavy chain 1, axonemal
    dynein, axonemal, heavy polypeptide 1
    heat shock regulated protein 1
    testicular tissue protein Li 60

    NCBI Reference Sequences (RefSeq)

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    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_052911.1 RefSeqGene

      Range
      5001..89174
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015512.5 → NP_056327.4  dynein axonemal heavy chain 1

      Status: REVIEWED

      Source sequence(s)
      AB037831, AW016677, DN831799
      Consensus CDS
      CCDS46842.1
      UniProtKB/Swiss-Prot
      B0I1R6, O00436, O15435, O95491, Q6ZU48, Q86YK7, Q8TEJ4, Q92863, Q9H8E6, Q9P2D7, Q9UFW6, Q9Y4Z7
      UniProtKB/TrEMBL
      A0A140VJI6
      Related
      ENSP00000401514.2, ENST00000420323.7
      Conserved Domains (4) summary
      COG5245
      Location:1252 → 3898
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam08393
      Location:1013 → 1416
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1543 → 1869
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam18199
      Location:3959 → 4261
      Dynein_C; Dynein heavy chain C-terminal domain

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      52310920..52400492
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006129.2 → XP_016861618.1  dynein axonemal heavy chain 1 isoform X1

      Conserved Domains (5) summary
      pfam03028
      Location:3583 → 4276
      Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
      pfam08393
      Location:1016 → 1417
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12777
      Location:2854 → 3203
      MT; Microtubule-binding stalk of dynein motor
      pfam12781
      Location:3229 → 3444
      AAA_9; ATP-binding dynein motor region D5
      cl21455
      Location:1543 → 1773
      P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases

    2. XM_017006131.2 → XP_016861620.1  dynein axonemal heavy chain 1 isoform X3

    3. XM_017006130.2 → XP_016861619.1  dynein axonemal heavy chain 1 isoform X2

      UniProtKB/Swiss-Prot
      B0I1R6, O00436, O15435, O95491, Q6ZU48, Q86YK7, Q8TEJ4, Q92863, Q9H8E6, Q9P2D7, Q9UFW6, Q9Y4Z7
      UniProtKB/TrEMBL
      A0A140VJI6
      Conserved Domains (4) summary
      COG5245
      Location:1252 → 3898
      DYN1; Dynein, heavy chain [Cytoskeleton]
      pfam08393
      Location:1013 → 1416
      DHC_N2; Dynein heavy chain, N-terminal region 2
      pfam12774
      Location:1543 → 1869
      AAA_6; Hydrolytic ATP binding site of dynein motor region D1
      pfam18199
      Location:3959 → 4261
      Dynein_C; Dynein heavy chain C-terminal domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      52349219..52433474
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2D7.6 GenPept UniProtKB/Swiss-Prot:Q9P2D7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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