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

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 136991
Gene name Ankyrin repeat, SAM and basic leucine zipper domain containing 1
Gene symbol ASZ1
Synonyms (NCBI Gene)
ALP1ANKL1C7orf7CT1.19GASZOrf3
Chromosome 7
Chromosome location 7q31.2
miRNA miRNA information provided by mirtarbase database.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT053311 hsa-miR-221-3p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 23579640
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (16)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605797 1350 ENSG00000154438
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Male infertility with azoospermia or oligozoospermia due to single gene mutation Conflicting classifications of pathogenicity rs186384831 RCV003991592
Show/Hide Text Mining Associations (5)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Carcinoma Hepatocellular Associate 16407257
Cluster Headache Associate 34180076
COVID 19 Associate 33971585
Epilepsy Idiopathic Generalized Associate 16407257
Male Infertility with Large Headed Multiflagellar Polyploid Spermatozoa Associate 38614076