Gene
DNAH1
dynein axonemal heavy chain 1
- HGNC 2940(opens in a new tab)
- Ensembl gene ENSG00000114841(opens in a new tab)
- NCBI Gene 25981(opens in a new tab)
Summary
- Cytogenetic location
- 3p21.1
- Coordinates
- Chromosome 3: 52,316,319–52,400,492 (GRCh38)
- Exons
- 78 exons across 84.2 kb
- Protein
- 4,265 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11
- MANE Select transcript
- ENST00000420323.7NM_015512.5
- Locus type
- gene with protein product
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Male Infertility
The inability of the male to effect fertilization of an ovum after a specified period of unprotected intercourse. Male sterility is permanent infertility.
- ClinGen rates the link definitive
- 3 GenCC submitters rate it definitive or strong
Primary Ciliary Dyskinesia
- Autosomal recessive
A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How DNAH1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 13.1 kb of the gene's 84.2 kb; 12,798 of those bases code for the protein.
How a genome test reads DNAH1
125
positions in DNAH1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 84.2 kb of DNAH1, introns included, not only the 13.1 kb of exons.
Traits linked to DNAH1
The Human Phenotype Ontology lists these as features of the rare conditions DNAH1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the genitourinary system
- Absent sperm flagella
- Coiled sperm flagella
- Female infertility
- Irregularly shaped sperm tail
- Male infertility
- Reduced sperm motility
- Short sperm flagella
- Abnormal sperm motility
Show 1 more trait
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). DNAH1 gene: dynein axonemal heavy chain 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/dnah1
Dante Labs. DNAH1 gene: dynein axonemal heavy chain 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dnah1
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