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

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
136991
Gene name Gene Name - the full gene name approved by the HGNC.
Ankyrin repeat, SAM and basic leucine zipper domain containing 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ASZ1
Synonyms (NCBI Gene) Gene synonyms aliases
ALP1, ANKL1, C7orf7, CT1.19, GASZ, Orf3
Chromosome Chromosome number
7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
7q31.2
miRNA miRNA information provided by mirtarbase database.
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 assay, Microarray, qRT-PCR, Western blot 23579640
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(12)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
605797 1350 ENSG00000154438
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Coronary artery disease Coronary Artery Disease rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537 29212778
Prostate cancer Malignant neoplasm of prostate rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582 17013881
Show/Hide Unknown Diseases (3)
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease 21378990 ClinVar
Coronary Heart Disease Coronary Heart Disease GWAS
Barrett esophagus Barrett esophagus GWAS
Show/Hide Text Mining Associations (5)
Associations from Text Mining
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