DNAH1 (dynein axonemal heavy chain 1)

2014-11-01  

Identity

HGNC
LOCATION
3p21.1
LOCUSID
ALIAS
CILD37,DNAHC1,HDHC7,HL-11,HL11,HSRF-1,SPGF18,XLHSRF-1
FUSION GENES

Other Information

Locus ID:

NCBI: 25981
MIM: 603332
HGNC: 2940
Ensembl: ENSG00000114841

Variants:

dbSNP: 25981
ClinVar: 25981
TCGA: ENSG00000114841
COSMIC: DNAH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000114841ENST00000420323Q9P2D7
ENSG00000114841ENST00000420323A0A140VJI6
ENSG00000114841ENST00000480649H7C506
ENSG00000114841ENST00000490713H7C563

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Huntington's diseaseKEGGko05016
Huntington's diseaseKEGGhsa05016

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
373020012024Novel biallelic variants in DNAH1 cause multiple morphological abnormalities of sperm flagella with favorable outcomes of fertility after ICSI in Han Chinese males.0
373020012024Novel biallelic variants in DNAH1 cause multiple morphological abnormalities of sperm flagella with favorable outcomes of fertility after ICSI in Han Chinese males.0
365108622023Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella.1
379341992023Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.2
365108622023Novel compound heterozygous mutations in DNAH1 cause primary infertility in Han Chinese males with multiple morphological abnormalities of the sperm flagella.1
379341992023Novel axonemal protein ZMYND12 interacts with TTC29 and DNAH1, and is required for male fertility and flagellum function.2
339296772021Mutational landscape of DNAH1 in Chinese patients with multiple morphological abnormalities of the sperm flagella: cohort study and literature review.4
339890522021Novel Biallelic DNAH1 Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella.5
348678082021Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice.6
339296772021Mutational landscape of DNAH1 in Chinese patients with multiple morphological abnormalities of the sperm flagella: cohort study and literature review.4
339890522021Novel Biallelic DNAH1 Variations Cause Multiple Morphological Abnormalities of the Sperm Flagella.5
348678082021Novel Loss-of-Function Mutations in DNAH1 Displayed Different Phenotypic Spectrum in Humans and Mice.6
321241902020Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection.15
321241902020Patients with severe asthenoteratospermia carrying SPAG6 or RSPH3 mutations have a positive pregnancy outcome following intracytoplasmic sperm injection.15
305444452018Associations 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/js/js/lib/css/template-card.css