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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 Hepatitis E and Usher Syndrome, Type 1B. Among its related pathways are Gene Expression and Mitotic Prophase. GO annotations related to this gene include 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

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

Regulatory Elements for ASZ1 Gene

Enhancers for ASZ1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07G117385 0.7 ENCODE 11.6 +42.3 42312 0.5 SCRT1 CTCF ZNF654 STAT1 TRIM22 REST RAD21 POLR2H SREBF1 MAFF ASZ1 WNT2 CFTR
GH07G117401 0.5 ENCODE 11.8 +25.8 25825 1.2 CTCF PKNOX1 NR2F1 CEBPB EP300 ASZ1 CFTR LOC105375467 WNT2
GH07G117435 0.8 ENCODE 0.4 -7.5 -7549 0.2 PKNOX1 RELA ARID3A CBX5 EED FOS ETV6 RELB IKZF2 CREM CFTR LOC100130680 ASZ1
GH07G117350 0.7 FANTOM5 0.2 +78.0 77961 0.2 MTA2 NR2F1 GATAD2B MLLT1 EBF1 TBX21 WNT2 ASZ1
GH07G117322 1.1 Ensembl ENCODE 0.1 +104.3 104276 2.7 ZNF777 SUZ12 RBBP5 ZFHX2 POLR2A PATZ1 SCRT2 ZSCAN29 PRDM10 EZH2 LOC105375467 WNT2 ASZ1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ASZ1 on UCSC Golden Path with GeneCards custom track

Genomic Location for ASZ1 Gene

Chromosome:
7
Start:
117,363,222 bp from pter
End:
117,428,123 bp from pter
Size:
64,902 bases
Orientation:
Minus strand

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

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).

Gene Ontology (GO) - Molecular Function for ASZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004871 signal transducer activity NAS 12040005
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

Clone Products

  • Applied Biological Materials Clones for ASZ1

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

Gene Ontology (GO) - Cellular Components for ASZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS --
GO:0071546 pi-body IEA,ISS --
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 meiosis ISS,IEA --
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

Unigene Clusters for ASZ1 Gene

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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for ASZ1

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, PaxDb, 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

Primer Products

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 35
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia ASZ1 34 35
  • 90.6 (n)
cow
(Bos Taurus)
Mammalia ASZ1 34 35
  • 89.75 (n)
rat
(Rattus norvegicus)
Mammalia Asz1 34
  • 86.6 (n)
mouse
(Mus musculus)
Mammalia Asz1 34 16 35
  • 85.75 (n)
oppossum
(Monodelphis domestica)
Mammalia GASZ 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 67 (a)
OneToMany
-- 35
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves ASZ1 34
  • 65.1 (n)
lizard
(Anolis carolinensis)
Reptilia ASZ1 35
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asz1 34
  • 62.33 (n)
zebrafish
(Danio rerio)
Actinopterygii asz1 34 35
  • 50.67 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1716 34
fruit fly
(Drosophila melanogaster)
Insecta CG2183 35
  • 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)

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 Sequence Context AA Info Type
rs1000024868 -- 117,393,524(+) GGGTA(-/T)TTTTT intron-variant
rs1000035626 -- 117,417,451(+) TTTGG(C/T)ACTTT intron-variant
rs1000041895 -- 117,393,247(+) AGTCA(G/T)AATTC intron-variant
rs1000090450 -- 117,385,412(+) GTGCC(A/C)CCATG intron-variant
rs1000096403 -- 117,391,724(+) TAATG(A/T)GATGC 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)

Relevant External Links for ASZ1 Gene

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

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

Disorders for ASZ1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for ASZ1 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
hepatitis e
usher syndrome, type 1b
  • usher syndrome type 1
- elite association - COSMIC cancer census association via MalaCards
Search ASZ1 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ASZ1

Genetic Association Database (GAD)
ASZ1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 M.M. (Mol. Endocrinol. 2002) 2 3 4 64
  2. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H. … Samani N.J. (Nat. Genet. 2011) 3 46 64
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  5. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4 64

Products for ASZ1 Gene

Sources for ASZ1 Gene

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