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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ASZ1
ankyrin repeat, SAM and basic leucine zipper domain containing 1
Chromosome 7 · 7q31.2
NCBI Gene: 136991Ensembl: ENSG00000154438.8HGNC: HGNC:1350UniProt: Q8WWH4
15PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingmale meiotic nuclear divisionspermatogenesistransposable element silencingesophageal adenocarcinomaHypocalcemiaBarrett's esophagusmale infertility with azoospermia or oligozoospermia due to single gene mutation
✦AI Summary

ASZ1 (ankyrin repeat, SAM and basic leucine zipper domain containing 1) plays a critical role in male fertility by orchestrating piRNA biogenesis machinery during spermatogenesis. The protein functions as a mitochondrial-anchored component that specifically interacts with PIWIL2 to recruit it to intermitochondrial cement (IMC) granules, forming essential complexes for transposable element silencing 1. ASZ1 works sequentially with PIWI proteins, where piRNAs competitively bind PIWIL2, leading to ASZ1-PIWIL2 dissociation and proper assembly of the piRNA biogenesis machinery 1. In fetal male germ cells, ASZ1-PIWIL2-TDRD1 forms a seed complex that initiates piRNA machinery assembly, while during postnatal meiosis, it synergizes with other complexes to facilitate pachytene piRNA biogenesis through TDRD1-mediated phase separation 1. Clinical studies have validated ASZ1's link to spermatogenic failure, with pathogenic variants identified in men with infertility 2. The gene shows sperm-specific hypomethylation patterns and is considered a prime candidate marker for male fertility impairment 34. ASZ1's dysfunction disrupts the essential piRNA pathway that protects germline integrity by preventing transposable element mobilization during spermatogenesis.

Sources cited
1
ASZ1 is mitochondrial-anchored and specifically interacts with PIWIL2 to recruit it to IMC granules, forming complexes essential for piRNA biogenesis
PMID: 41023308
2
ASZ1-PIWIL2-TDRD1 forms seed complex in fetal germ cells and synergizes during postnatal meiosis for pachytene piRNA biogenesis
PMID: 41023308
3
ASZ1 variants are validated as causes of spermatogenic failure in male infertility patients
PMID: 38614076
4
ASZ1 is identified as a prime candidate marker for male fertility impairment
PMID: 33238277
5
ASZ1 shows sperm-specific hypomethylation patterns in cattle, indicating similar role across species
PMID: 29635292
Disease Associationsⓘ20
esophageal adenocarcinomaOpen Targets
0.42Moderate
HypocalcemiaOpen Targets
0.31Weak
Barrett's esophagusOpen Targets
0.28Weak
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.28Weak
lymphatic system diseaseOpen Targets
0.22Weak
diabetes mellitusOpen Targets
0.12Weak
azoospermiaOpen Targets
0.08Suggestive
coronary artery diseaseOpen Targets
0.07Suggestive
hyperpituitarismOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
partial chromosome Y deletionOpen Targets
0.07Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.05Suggestive
spermatogenic failure 72Open Targets
0.05Suggestive
spermatogenic failure 65Open Targets
0.05Suggestive
spermatogenic failure 84Open Targets
0.05Suggestive
spermatogenic failure 93Open Targets
0.05Suggestive
spermatogenic failure 59Open Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PIWIL4Protein interaction96%FKBP6Protein interaction92%MOV10L1Protein interaction92%DDX4Protein interaction92%PIWIL2Protein interaction92%TDRD1Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Lung
92%
Bone Marrow
15%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
ASZ1PIWIL4FKBP6MOV10L1DDX4PIWIL2TDRD1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q8WWH4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.30LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.98 [0.74–1.30]
RankingsWhere ASZ1 stands among ~20K protein-coding genes
  • #15,491of 20,598
    Most Researched15
  • #13,725of 17,882
    Most Constrained (LOEUF)1.30
Genes detectedASZ1
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Toward clinical exomes in diagnostics and management of male infertility.
PMID: 38614076
Am J Hum Genet · 2024
1.00
2
PIWI proteins tether the piRNA biogenesis machinery to mitochondria during mammalian spermatogenesis.
PMID: 41023308
EMBO J · 2025
0.90
3
DNA methylation patterns in patients with asthenospermia and oligoasthenospermia.
PMID: 38886667
BMC Genomics · 2024
0.80
4
Novel regulatory mechanisms for the CFTR gene.
PMID: 19614605
Biochem Soc Trans · 2009
0.70
5
Fertility Relevance Probability Analysis Shortlists Genetic Markers for Male Fertility Impairment.
PMID: 33238277
Cytogenet Genome Res · 2020
0.60