Identity
HGNC
LOCATION
3p21.1
LOCUSID
ALIAS
CILD37,DNAHC1,HDHC7,HL-11,HL11,HSRF-1,SPGF18,XLHSRF-1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 25981
MIM: 603332
HGNC: 2940
Ensembl: ENSG00000114841
Variants:
dbSNP: 25981
ClinVar: 25981
TCGA: ENSG00000114841
COSMIC: DNAH1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000114841 | ENST00000420323 | Q9P2D7 |
| ENSG00000114841 | ENST00000420323 | A0A140VJI6 |
| ENSG00000114841 | ENST00000480649 | H7C506 |
| ENSG00000114841 | ENST00000490713 | H7C563 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Huntington's disease | KEGG | ko05016 |
| Huntington's disease | KEGG | hsa05016 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37302001 | 2024 | Novel biallelic variants in DNAH1 cause multiple morphological abnormalities of sperm flagella with favorable outcomes of fertility after ICSI in Han Chinese males. | 0 |
| 37302001 | 2024 | Novel biallelic variants in DNAH1 cause multiple morphological abnormalities of sperm flagella with favorable outcomes of fertility after ICSI in Han Chinese males. | 0 |
| 36510862 | 2023 | Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella. | 1 |
| 37934199 | 2023 | Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function. | 2 |
| 36510862 | 2023 | Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella. | 1 |
| 37934199 | 2023 | Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function. | 2 |
| 33929677 | 2021 | Mutational landscape of DNAH1 in Chinese patients with multiple morphological abnormalities of the sperm flagella: cohort study and literature review. | 4 |
| 33989052 | 2021 | Novel Biallelic DNAH1 Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella. | 5 |
| 34867808 | 2021 | Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice. | 6 |
| 33929677 | 2021 | Mutational landscape of DNAH1 in Chinese patients with multiple morphological abnormalities of the sperm flagella: cohort study and literature review. | 4 |
| 33989052 | 2021 | Novel Biallelic DNAH1 Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella. | 5 |
| 34867808 | 2021 | Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice. | 6 |
| 32124190 | 2020 | Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection. | 15 |
| 32124190 | 2020 | Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection. | 15 |
| 30544445 | 2018 | Associations between DNAH1 gene polymorphisms and male infertility: A retrospective study. | 11 |
Citation
Dessen P
DNAH1 (dynein axonemal heavy chain 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/62543/dnah1-(dynein-axonemal-heavy-chain-1)
