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

Gene ID: 25981, updated on 5-May-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
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Genomic context

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Location:
3p21.1
Exon count:
80
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (52310920..52400492)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (52349219..52433474)
105.20220307 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 protein 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: 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

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Related articles in PubMed

  1. Novel Biallelic DNAH1 Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella. Hu HY, et al. DNA Cell Biol, 2021 Jun. PMID 33989052
  2. Mutational landscape of DNAH1 in Chinese patients with multiple morphological abnormalities of the sperm flagella: cohort study and literature review. Yu W, et al. J Assist Reprod Genet, 2021 Aug. PMID 33929677, Free PMC Article
  3. Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study. Yang X, et al. Medicine (Baltimore), 2018 Dec. PMID 30544445, Free PMC Article
  4. DNAH1 gene mutations and their potential association with dysplasia of the sperm fibrous sheath and infertility in the Han Chinese population. Sha Y, et al. Fertil Steril, 2017 Jun. PMID 28577616
  5. Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese. Wang X, et al. Clin Genet, 2017 Feb. PMID 27573432

See all (31) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. This mutation was distinct from previously reported DNAH1 mutations associated with MMAF and only affected the East Asian group. Furthermore, the variant DNAH1 protein could not be detected in spermatozoa by Western blot or immunofluorescence staining although DNAH1 mRNA was expressed in the spermatozoa.
    Title: Homozygous DNAH1 frameshift mutation causes multiple morphological anomalies of the sperm flagella in Chinese.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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
Compare labs
Spermatogenic failure 18
MedGen: C4539783 OMIM: 617576 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
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EBI GWAS Catalog
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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)

Genotypes

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 
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
part_of inner dynein arm IBA
Inferred from Biological aspect of Ancestor
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_2023_10

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

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