ASZ1 (ankyrin repeat, SAM and basic leucine zipper domain containing 1)

Gene

• Entrez ID: 136991
• Gene name: Ankyrin repeat, SAM and basic leucine zipper domain containing 1
• Gene symbol: ASZ1
• Synonyms (NCBI Gene): ALP1, ANKL1, C7orf7, CT1.19, GASZ, Orf3
• Chromosome: 7
• Chromosome location: 7q31.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053311	hsa-miR-221-3p	Luciferase reporter assay, Microarray, qRT-PCR, Western blot	23579640

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	32296183, 36217029
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0007140	Process	Male meiotic nuclear division	IEA
GO:0007140	Process	Male meiotic nuclear division	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0010526	Process	Transposable element silencing	IEA
GO:0010526	Process	Transposable element silencing	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IEA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0071546	Component	Pi-body	IBA
GO:0071546	Component	Pi-body	IEA
GO:0071546	Component	Pi-body	ISS

Other IDs

• MIM: 605797
• HGNC: 1350
• e!Ensembl: ENSG00000154438

Protein

• UniProt ID: Q8WWH4
• Protein name: Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1 (Ankyrin-like protein 1) (Germ cell-specific ankyrin, SAM and basic leucine zipper domain-containing protein)
• Protein function: Plays a central role during spermatogenesis by repressing transposable elements and preventing their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	50 → 146	Ankyrin repeats (3 copies)	Repeat
  PF12796	Ank_2	127 → 212	Ankyrin repeats (3 copies)	Repeat
  PF07647	SAM_2	271 → 334	SAM domain (Sterile alpha motif)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed exclusively in the testis and ovary and at higher levels in the adult testis compared with the adult ovary. {ECO:0000269|PubMed:12040005}.
• Sequence:

  MAASALRGLPVAGGGESSESEDDGWEIGYLDRTSQKLKRLLPIEEKKEKFKKAMTIGDVS
  LVQELLDSGISVDSNFQYGWTPLMYAASVANAELVRVLLDRGANASFEKDKQSILITACS
  AHGSEEQILKCVELLLSRNADPNVACRRLMTPIMYAARDGHTQVVALLVAHGAEVNTQDE
  NGYTALTWAARQGHKNIVLKLLELGANKMLQTKDGKMPSEIAKRNKHHEIFNLLSFTLNP
  LEGKLQQLTKEDTICKILTTDSDREKDHIFSSYTAFGDLEVFLHGLGLEHMTDLLKERDI
  TLRHLLTMREDEFTKNGITSKDQQKILAALKELQVEEIQFGELSEETKLEISGDEFLNFL
  LKLNKQCGHLITAVQNVITELPVNSQKITLEWASPQNFTSVCEELVNNVEDLSEKVCKLK
  DLIQKLQNERENDPTHIQLREEVSTWNSRILKRTAITICGFGFLLFICKLTFQRK

• Sequence length: 475

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BARRETT'S ESOPHAGUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Conflicting classifications of pathogenicity	ClinVar ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma Of Esophagus	Esophageal Cancer	GWASCAT_DG	27527254		★☆☆☆☆ Found in Text Mining only
Adult T-Cell Lymphoma/Leukemia	T-Cell Lymphoma/Leukemia	BEFREE	1528897		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16407257	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30879693		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21378990		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	21378990		★☆☆☆☆ Found in Text Mining only
Epilepsy Idiopathic Generalized	Epilepsy	Pubtator	16407257	Associate	★☆☆☆☆ Found in Text Mining only
Fulminant hepatitis	Fulminant Hepatitis	BEFREE	7560853		★☆☆☆☆ Found in Text Mining only
Gastroenteritis	Gastroenteritis	BEFREE	10795514		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	30655881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30526524		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations