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: 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
GO:0005737	Component	Cytoplasm	ISS
GO:0007140	Process	Male meiotic nuclear division	ISS
GO:0007275	Process	Multicellular organism development	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0030154	Process	Cell differentiation	IEA
GO:0031047	Process	Gene silencing by RNA	IEA
GO:0034587	Process	PiRNA metabolic process	IBA	21873635
GO:0034587	Process	PiRNA metabolic process	ISS
GO:0043046	Process	DNA methylation involved in gamete generation	ISS
GO:0071546	Component	Pi-body	IBA	21873635
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 elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and governs the methylation and subsequent repression of transposons. Its association with pi-bodies suggests a participation in the primary piRNAs metabolic process. Required prior to the pachytene stage to facilitate the production of multiple types of piRNAs, including those associated with repeats involved in the regulation of retrotransposons. May act by mediating protein-protein interactions during germ cell maturation (By similarity).
• 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

• Sequence:

  MAASALRGLPVAGGGESSESEDDGWEIGYLDRTSQKLKRLLPIEEKKEKFKKAMTIGDVS
  LVQELLDSGISVDSNFQYGWTPLMYAASVANAELVRVLLDRGANASFEKDKQSILITACS
  AHGSEEQILKCVELLLSRNADPNVACRRLMTPIMYAARDGHTQVVALLVAHGAEVNTQDE
  NGYTALTWAARQGHKNIVLKLLELGANKMLQTKDGKMPSEIAKRNKHHEIFNLLSFTLNP
  LEGKLQQLTKEDTICKILTTDSDREKDHIFSSYTAFGDLEVFLHGLGLEHMTDLLKERDI
  TLRHLLTMREDEFTKNGITSKDQQKILAALKELQVEEIQFGELSEETKLEISGDEFLNFL
  LKLNKQCGHLITAVQNVITELPVNSQKITLEWASPQNFTSVCEELVNNVEDLSEKVCKLK
  DLIQKLQNERENDPTHIQLREEVSTWNSRILKRTAITICGFGFLLFICKLTFQRK

• Sequence length: 475

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs-1, rs121918529, rs121918531, rs137852340, rs405509, rs1555800701, rs1215189537	29212778
Coronary heart disease	Coronary heart disease	rs-1	21378990
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	17013881

Unknown
Disease name	Disease term	dbSNP ID	References
Esophageal cancer	Adenocarcinoma Of Esophagus		27527254
Prostatic neoplasms	Prostatic Neoplasms		17013881