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Aliases for ASZ1 Gene

Aliases for ASZ1 Gene

  • Ankyrin Repeat, SAM And Basic Leucine Zipper Domain Containing 1 2 3 5
  • Germ Cell-Specific Ankyrin, SAM And Basic Leucine Zipper Domain-Containing Protein 3 4
  • Ankyrin-Like Protein 1 3 4
  • Ankyrin-Like 1 2 3
  • C7orf7 3 4
  • ANKL1 3 4
  • ALP1 3 4
  • GASZ 3 4
  • Ankyrin Repeat, SAM And Basic Leucine Zipper Domain-Containing Protein 1 3
  • CT1.19 3
  • Orf3 3

External Ids for ASZ1 Gene

Previous HGNC Symbols for ASZ1 Gene

  • C7orf7
  • ANKL1

Previous GeneCards Identifiers for ASZ1 Gene

  • GC07M116597
  • GC07M116790
  • GC07M117003
  • GC07M111368

Summaries for ASZ1 Gene

GeneCards Summary for ASZ1 Gene

ASZ1 (Ankyrin Repeat, SAM And Basic Leucine Zipper Domain Containing 1) is a Protein Coding gene. Diseases associated with ASZ1 include Usher Syndrome, Type I. Among its related pathways are Gene Expression and Mitotic Prophase. Gene Ontology (GO) annotations related to this gene include obsolete signal transducer activity.

UniProtKB/Swiss-Prot for ASZ1 Gene

  • 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).

Gene Wiki entry for ASZ1 Gene

Additional gene information for ASZ1 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASZ1 Gene

Genomics for ASZ1 Gene

GeneHancer (GH) Regulatory Elements for ASZ1 Gene

Promoters and enhancers for ASZ1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J117427 Promoter 0.9 EPDnew 650.7 +0.6 598 0.1 ZNF639 MEIS2 L3MBTL2 GMEB1 NRF1 ZBTB33 ZFX MGA ASZ1 WNT2
GH07J117428 Promoter 0.8 EPDnew 650.7 +0.5 484 0.1 ZNF639 MEIS2 L3MBTL2 GMEB1 NRF1 ZBTB33 ZFX ASZ1 WNT2
GH07J117385 Enhancer 0.7 ENCODE 11.6 +42.3 42312 0.5 SCRT1 CTCF STAT1 ZNF687 ZNF654 TRIM22 REST RAD21 ZNF592 SREBF1 ASZ1 WNT2 CFTR
GH07J117401 Enhancer 0.4 ENCODE 11.8 +25.8 25825 1.2 PKNOX1 POLR2A ASZ1 CFTR LOC105375467 WNT2
GH07J117435 Enhancer 0.7 ENCODE 0.4 -7.5 -7549 0.2 PKNOX1 EBF1 BATF RELA EED ATF7 ETV6 FOS IKZF2 RUNX3 CFTR ASZ1 LOC100130680
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ASZ1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ASZ1 gene promoter:

Genomic Locations for ASZ1 Gene

Genomic Locations for ASZ1 Gene
chr7:117,363,222-117,428,123
(GRCh38/hg38)
Size:
64,902 bases
Orientation:
Minus strand
chr7:117,003,276-117,068,177
(GRCh37/hg19)

Genomic View for ASZ1 Gene

Genes around ASZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASZ1 Gene

Proteins for ASZ1 Gene

  • Protein details for ASZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8WWH4-ASZ1_HUMAN
    Recommended name:
    Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1
    Protein Accession:
    Q8WWH4
    Secondary Accessions:
    • A0AV27
    • A4D0V0
    • B7ZM20

    Protein attributes for ASZ1 Gene

    Size:
    475 amino acids
    Molecular mass:
    53458 Da
    Quaternary structure:
    • Interacts with DDX4, PIWIL1, RANBP9 and TDRD1.

    Alternative splice isoforms for ASZ1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ASZ1 Gene

Post-translational modifications for ASZ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASZ1 Gene

No data available for DME Specific Peptides for ASZ1 Gene

Domains & Families for ASZ1 Gene

Gene Families for ASZ1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with ASZ1: view

No data available for UniProtKB/Swiss-Prot for ASZ1 Gene

Function for ASZ1 Gene

Molecular function for ASZ1 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for ASZ1 Gene

Gene Ontology (GO) - Molecular Function for ASZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with ASZ1: view
genes like me logo Genes that share phenotypes with ASZ1: view

Animal Models for ASZ1 Gene

MGI Knock Outs for ASZ1:

Animal Model Products

CRISPR Products

miRNA for ASZ1 Gene

miRTarBase miRNAs that target ASZ1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASZ1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASZ1 Gene

Localization for ASZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASZ1 Gene

Cytoplasm. Note=Component of the meiotic nuage, also named P granule, a germ-cell-specific organelle required to repress transposon activity during meiosis. Specifically localizes to pi-bodies, a subset of the nuage which contains primary piRNAs (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASZ1 gene
Compartment Confidence
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ASZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0071546 pi-body ISS,IEA --
genes like me logo Genes that share ontologies with ASZ1: view

Pathways & Interactions for ASZ1 Gene

genes like me logo Genes that share pathways with ASZ1: view

Pathways by source for ASZ1 Gene

Gene Ontology (GO) - Biological Process for ASZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007140 male meiotic nuclear division IEA,ISS --
GO:0007165 signal transduction IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis ISS --
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with ASZ1: view

No data available for SIGNOR curated interactions for ASZ1 Gene

Drugs & Compounds for ASZ1 Gene

No Compound Related Data Available

Transcripts for ASZ1 Gene

mRNA/cDNA for ASZ1 Gene

(13) Selected AceView cDNA sequences:
(13) Additional mRNA sequences :
(3) REFSEQ mRNAs :
(6) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ASZ1 Gene

Ankyrin repeat, SAM and basic leucine zipper domain containing 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASZ1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ASZ1 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13
SP1: -
SP2:
SP3: -
SP4: -

Relevant External Links for ASZ1 Gene

GeneLoc Exon Structure for
ASZ1
ECgene alternative splicing isoforms for
ASZ1

Expression for ASZ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ASZ1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ASZ1 Gene

This gene is overexpressed in Testis (x52.0).

Protein differential expression in normal tissues from HIPED for ASZ1 Gene

This gene is overexpressed in Plasma (31.3), Ovary (20.2), and Testis (14.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASZ1 Gene



Protein tissue co-expression partners for ASZ1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ASZ1 Gene:

ASZ1

SOURCE GeneReport for Unigene cluster for ASZ1 Gene:

Hs.352412

mRNA Expression by UniProt/SwissProt for ASZ1 Gene:

Q8WWH4-ASZ1_HUMAN
Tissue specificity: Expressed exclusively in the testis and ovary and at higher levels in the adult testis compared with the adult ovary.
genes like me logo Genes that share expression patterns with ASZ1: view

No data available for Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASZ1 Gene

Orthologs for ASZ1 Gene

This gene was present in the common ancestor of animals.

Orthologs for ASZ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ASZ1 34 33
  • 99.51 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ASZ1 34 33
  • 90.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ASZ1 34 33
  • 89.75 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Asz1 33
  • 86.6 (n)
mouse
(Mus musculus)
Mammalia Asz1 16 34 33
  • 85.75 (n)
oppossum
(Monodelphis domestica)
Mammalia GASZ 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 67 (a)
OneToMany
-- 34
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves LOC101751592 33
  • 65.1 (n)
lizard
(Anolis carolinensis)
Reptilia ASZ1 34
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asz1 33
  • 62.33 (n)
zebrafish
(Danio rerio)
Actinopterygii asz1 34 33
  • 50.67 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1716 33
fruit fly
(Drosophila melanogaster)
Insecta CG2183 34
  • 22 (a)
OneToOne
Species where no ortholog for ASZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ASZ1 Gene

ENSEMBL:
Gene Tree for ASZ1 (if available)
TreeFam:
Gene Tree for ASZ1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASZ1: view image

Paralogs for ASZ1 Gene

Pseudogenes.org Pseudogenes for ASZ1 Gene

genes like me logo Genes that share paralogs with ASZ1: view

No data available for Paralogs for ASZ1 Gene

Variants for ASZ1 Gene

Sequence variations from dbSNP and Humsavar for ASZ1 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs1000024868 -- 117,393,525(-) TTTTTTT/TTTTTTTT intron_variant
rs1000035626 -- 117,417,451(-) C/T intron_variant
rs1000041895 -- 117,393,247(-) G/T intron_variant
rs1000090450 -- 117,385,412(-) A/C intron_variant
rs1000096403 -- 117,391,724(-) T/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ASZ1 Gene

Variant ID Type Subtype PubMed ID
esv2675467 CNV deletion 23128226
esv3614712 CNV loss 21293372
esv3614713 CNV loss 21293372
nsv608256 CNV gain 21841781
nsv7405 OTHER inversion 18451855

Variation tolerance for ASZ1 Gene

Residual Variation Intolerance Score: 66.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.20; 80.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASZ1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASZ1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASZ1 Gene

Disorders for ASZ1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ASZ1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
usher syndrome, type i
  • ush1
- elite association - COSMIC cancer census association via MalaCards
Search ASZ1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASZ1

genes like me logo Genes that share disorders with ASZ1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASZ1 Gene

Publications for ASZ1 Gene

  1. Identification of Gasz, an evolutionarily conserved gene expressed exclusively in germ cells and encoding a protein with four ankyrin repeats, a sterile-alpha motif, and a basic leucine zipper. (PMID: 12040005) Yan W … Matzuk MM (Molecular endocrinology (Baltimore, Md.) 2002) 2 3 4 58
  2. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H … Samani NJ (Nature genetics 2011) 3 44 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer SW … Tsui LC (Science (New York, N.Y.) 2003) 3 4 58

Products for ASZ1 Gene

Sources for ASZ1 Gene

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