Gene Ontology annotation through association of InterPro records with GO terms
Annotation inferences using phylogenetic trees
Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
Gene Ontology annotation based on curation of immunofluorescence data
Electronic Gene Ontology annotations created by ARBA machine learning models
Combined Automated Annotation using Multiple IEA Methods
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
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Bi-allelic DNAH17 variants cause isolated male infertility with sperm ODA loss; DNAH17 and DNAH8 are the ODA heavy chains of sperm but not respiratory cilia.
"By analyzing five male individuals who consulted for isolated infertility and displayed a loss of ODAs in their sperm cells but not in their respiratory cells, we identified bi-allelic mutations in DNAH17."
DNAH3 deficiency causes flagellar inner dynein arm loss and male infertility in humans and mice.
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DNAH17 is used as an ODA marker in human and mouse sperm flagella; it is unaffected by DNAH3 loss.
"DNAH8/DNAH17 and DNAI1, corresponding to the heavy and intermediate chains of ODAs"
Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene.
Novel loss-of-function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice.
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Dnah17-/- mice show MMAF with disorganized axonemes and impaired flagellar assembly in spermatids.
"Clusters of disorganized microtubules and outer dense fibers were observed in developing spermatids, indicating impaired sperm flagellar assembly."
Novel variants in DNAH17 cause sperm flagellar outer dynein arm defects but not total fertilization failure after ICSI.
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DNAH17 deficiency impairs ODA assembly and docking.
"DNAH17 deficiency impaired the assembly and docking of outer dynein arms, affected the acrosome reaction, and disrupted mitochondrial function."
Novel homozygous or compound heterozygous DNAH17 variants lead to male infertility characterized by multiple morphological abnormalities of the sperm flagella and asthenoteratozoospermia in humans.
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DNAH17 loss removes ODAs and reduces other ODA subunits in sperm.
"In addition to DNAH17, several proteins associated with ODA assembly, including ODAD4, ODAD2, DNAI1, and DNAH8, were among the top 10 downregulated proteins in DNAH17-mutant patients"
Novel mutations in DNAH17 cause sperm flagellum defects and their influence on ICSI outcome.
Novel DNAH17 mutations associated with fertilization failures after ICSI.
DNAH17 is essential for rat spermatogenesis and fertility.
Infertility due to defective sperm flagella caused by an intronic deletion in DNAH17 that perturbs splicing.
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An intronic deletion causing in-frame loss of 89 residues of pig DNAH17 causes MMAF.
"Disruption of DNAH17 impairs the assembly of the flagellar axoneme and manifests in multiple morphological abnormalities of the sperm flagella."
Identification of DNAH17 Variants in Han-Chinese Patients With Left-Right Asymmetry Disorders.
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.
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DNAH17 depends on DNAH8 for its flagellar localization.
"Immunofluorescence assays performed on the spermatozoa from men harboring bi-allelic DNAH8 variants revealed the absent or markedly reduced staining of DNAH8 and its associated protein DNAH17."
UniProtKB entry Q9UFH2 (DYH17_HUMAN)