Gene Ontology annotation through association of InterPro records with GO terms
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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
Mutations in DNAH17, Encoding a Sperm-Specific Axonemal Outer Dynein Arm Heavy Chain, Cause Isolated Male Infertility Due to Asthenozoospermia.
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DNAH8 and DNAH17, but not DNAH5/9/11, are the ODA heavy chains of the human sperm axoneme; DNAH17-mutant sperm lose DNAH8.
"We show that DNAH17 and DNAH8, but not DNAH5, DNAH9, or DNAH11, colocalize with α-tubulin along the sperm axoneme, whereas the reverse picture is observed in respiratory cilia, thus explaining the phenotype restricted to sperm cells."
Bi-allelic DNAH8 Variants Lead to Multiple Morphological Abnormalities of the Sperm Flagella and Primary Male Infertility.
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Bi-allelic DNAH8 variants cause MMAF; Dnah8-knockout male mice are sterile with MMAF; DNAH17 staining is lost in DNAH8-mutant sperm.
"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."
Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene.
Loss-of-function mutation in DNAH8 induces asthenoteratospermia associated with multiple morphological abnormalities of the sperm flagella.
Mutations in DNAH8 contribute to multiple morphological abnormalities of sperm flagella and male infertility.
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Compound heterozygous DNAH8 variants in two men with severe asthenoteratospermia; ICSI produced pregnancy.
"compound heterozygous mutations in DNAH8 (MIM:603337) may be responsible for multiple morphological abnormalities of the sperm flagella"
A novel splicing variant in DNAH8 causes asthenozoospermia.
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A homozygous splice-acceptor variant in two brothers causes asthenozoospermia.
"We identified a novel homozygous splicing variant c.6311-2A>G in DNAH8 from two affected brothers belonging to the same consanguineous family."
A novel homozygous frameshift variant in DNAH8 causes multiple morphological abnormalities of the sperm flagella in a consanguineous Pakistani family.
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Loss of DNAH8 reduces DNAH17 in the sperm flagellum.
"In addition, expression of DNAH17, a DNAH8-associated protein, was significantly reduced in the sperm flagella of the patients with the DNAH8 mutation."
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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DNAH8 is co-depleted with other ODA proteins when DNAH17 is lost.
"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"
The mouse t complex distorter/sterility candidate, Dnahc8, expresses a gamma-type axonemal dynein heavy chain isoform confined to the principal piece of the sperm tail.
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Mouse Dnahc8 is a gamma-type axonemal dynein heavy chain confined to the principal piece of the sperm tail.
"Interestingly, DNAHC8 is confined to the principal piece of the sperm tail."
Dynein axonemal heavy chain 8 promotes androgen receptor activity and associates with prostate cancer progression.
Prenatal Low Testosterone Levels Induced by DNAH8 Dysfunction Leads to Urethral Fusion and Male Differentiation Abnormalities.
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Dnah8 knockout mice show reduced fetal testosterone and urethral fusion defects.
"Loss of DNAH8 delays differentiation of Sertoli and steroidogenic lineages, reduces prenatal testosterone"
UniProtKB entry Q96JB1 (DNAH8_HUMAN)