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Aliases for ASZ1 Gene

Aliases for ASZ1 Gene

  • Ankyrin Repeat, SAM And Basic Leucine Zipper Domain Containing 1 2 3
  • ANKL1 3 4 6
  • ALP1 3 4 6
  • GASZ 3 4 6
  • 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
  • Ankyrin Repeat, SAM And Basic Leucine Zipper Domain-Containing Protein 1 3
  • CT1.19 3
  • Orf3 3

External Ids for ASZ1 Gene

Previous Symbols for ASZ1 Gene

  • C7orf7
  • ANKL1

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. 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 , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ASZ1 Gene

Genomics for ASZ1 Gene

Genomic Location for ASZ1 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ASZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASZ1 Gene

Regulatory Elements 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

Proteomics data for ASZ1 Gene at MOPED

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 for ASZ1 Gene

Gene Families for ASZ1 Gene

HGNC:
  • ANKRD :Ankyrin repeat domain containing
  • SAMD :Sterile alpha motif (SAM) domain containing

UniProtKB/Swiss-Prot:

ASZ1_HUMAN
Domain:
  • Contains 1 SAM (sterile alpha motif) domain.:
    • Q8WWH4
Similarity:
  • Contains 6 ANK repeats.:
    • Q8WWH4
genes like me logo Genes that share domains with ASZ1: view

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
GO:0005515 protein binding --
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:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for ASZ1 Gene COMPARTMENTS Subcellular localization image for ASZ1 gene
Compartment Confidence
cytosol 2
cytoskeleton 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 1
peroxisome 1
plasma membrane 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 ISS --
genes like me logo Genes that share ontologies with ASZ1: view

Pathways for ASZ1 Gene

SuperPathways for ASZ1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ASZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007140 male meiosis ISS --
GO:0007165 signal transduction NAS 12040005
GO:0007275 multicellular organismal development IEA --
GO:0007283 spermatogenesis ISS --
GO:0010467 gene expression TAS --
genes like me logo Genes that share ontologies with ASZ1: view

No data available for Pathways by source for ASZ1 Gene

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:

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 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 (52.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for ASZ1 Gene

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 expressions with ASZ1: view

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 36
  • 99.51 (n)
  • 99.16 (a)
ASZ1 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ASZ1 36
  • 89.75 (n)
  • 86.95 (a)
ASZ1 37
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ASZ1 36
  • 90.6 (n)
  • 88.21 (a)
ASZ1 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Asz1 36
  • 85.75 (n)
  • 85.26 (a)
Asz1 16
Asz1 37
  • 85 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia GASZ 37
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 67 (a)
OneToMany
-- 37
  • 62 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Asz1 36
  • 86.6 (n)
  • 85.89 (a)
chicken
(Gallus gallus)
Aves ASZ1 36
  • 65.1 (n)
  • 53.53 (a)
lizard
(Anolis carolinensis)
Reptilia ASZ1 37
  • 49 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia asz1 36
  • 62.33 (n)
  • 52.28 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.1716 36
zebrafish
(Danio rerio)
Actinopterygii asz1 36
  • 50.67 (n)
  • 39.01 (a)
asz1 37
  • 37 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG2183 37
  • 22 (a)
OneToOne
Species with no ortholog for ASZ1:
  • 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 MAF
rs989727 -- 117,363,485(+) TCCTA(A/C/T)GGAAT utr-variant-3-prime, nc-transcript-variant
rs994996 -- 117,412,861(+) TGCAT(A/G)TATTT intron-variant
rs994997 -- 117,412,896(+) AAATG(C/T)CAACT intron-variant
rs1029396 - 117,384,766(+) GCATC(G/T)TTCCA reference, missense, nc-transcript-variant
rs1029397 -- 117,396,547(+) tcaaa(A/C)atcct intron-variant

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

Variant ID Type Subtype PubMed ID
nsv7405 OTHER Inversion 18451855
esv2675467 CNV Deletion 23128226
nsv889076 CNV Loss 21882294

Relevant External Links for ASZ1 Gene

HapMap Linkage Disequilibrium report
ASZ1

Disorders for ASZ1 Gene

Relevant External Links for ASZ1

Genetic Association Database (GAD)
ASZ1
genes like me logo Genes that share disorders with ASZ1: view

No data available for UniProtKB/Swiss-Prot 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
  2. 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
  3. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PMID: 21378990) Schunkert H. … Samani N.J. (Nat. Genet. 2011) 3 49
  4. Human chromosome 7: DNA sequence and biology. (PMID: 12690205) Scherer S.W. … Tsui L.-C. (Science 2003) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for ASZ1 Gene

Sources for ASZ1 Gene

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