Free for academic non-profit institutions. Other users need a Commercial license

Aliases for TOPAZ1 Gene

Aliases for TOPAZ1 Gene

  • Testis And Ovary Specific PAZ Domain Containing 1 2 3 5
  • C3orf77 3 4
  • Testis- And Ovary-Specific PAZ Domain-Containing Protein 1 3
  • Testis And Ovary-Specific PAZ Domain Gene 1 3
  • Chromosome 3 Open Reading Frame 77 2
  • Topaz 1 3

External Ids for TOPAZ1 Gene

Previous HGNC Symbols for TOPAZ1 Gene

  • C3orf77

Summaries for TOPAZ1 Gene

GeneCards Summary for TOPAZ1 Gene

TOPAZ1 (Testis And Ovary Specific PAZ Domain Containing 1) is a Protein Coding gene.

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TOPAZ1 Gene

Genomics for TOPAZ1 Gene

Regulatory Elements for TOPAZ1 Gene

Enhancers for TOPAZ1 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
GH03G043869 1.5 FANTOM5 Ensembl ENCODE dbSUPER 9.7 -370.1 -370090 5.0 JUN SIN3A RAD21 ZNF316 GATA2 POLR2A NFE2 PRDM10 FOS ZNF548 ENSG00000261786 ZNF502 RNU6-367P SNRK MIR138-1 TOPAZ1 ANO10 GC03P043926 ENSG00000235886
GH03G044099 0.2 ENCODE 9.2 -141.6 -141570 1.9 RNU6-367P TOPAZ1 ZNF502 KIAA1143 GC03P044115 GC03M044082
GH03G044233 1.3 Ensembl ENCODE 0.4 -6.0 -5984 5.6 PKNOX1 ATF1 ARNT BRCA1 TCF12 ELK1 GATA2 ZNF143 FOS CAVIN1 ZNF660 RNU6-367P MIR138-1 ZNF197 TCAIM ENSG00000271941 TOPAZ1 PIR53341
GH03G044196 1.3 Ensembl ENCODE dbSUPER 0.3 -43.0 -43043 4.4 CTCF MXI1 RB1 WRNIP1 TEAD4 ZMYM3 RAD21 ZFHX2 ZNF316 EGR1 ZNF660 ZNF197 KIAA1143 ENSG00000271941 TOPAZ1 PIR53341
GH03G044222 0.8 ENCODE 0.4 -18.5 -18519 2.4 HDAC1 ESRRA ATF1 ARNT BACH1 ZNF316 GATA2 ELK1 ZSCAN29 FOS ZNF660 RNU6-367P ZNF197 ABHD5 TOPAZ1 PIR53341
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TOPAZ1 on UCSC Golden Path with GeneCards custom track

Genomic Location for TOPAZ1 Gene

Chromosome:
3
Start:
44,241,886 bp from pter
End:
44,336,610 bp from pter
Size:
94,725 bases
Orientation:
Plus strand

Genomic View for TOPAZ1 Gene

Genes around TOPAZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TOPAZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TOPAZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TOPAZ1 Gene

Proteins for TOPAZ1 Gene

  • Protein details for TOPAZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N9V7-TOPZ1_HUMAN
    Recommended name:
    Testis- and ovary-specific PAZ domain-containing protein 1
    Protein Accession:
    Q8N9V7

    Protein attributes for TOPAZ1 Gene

    Size:
    1692 amino acids
    Molecular mass:
    190927 Da
    Quaternary structure:
    No Data Available

neXtProt entry for TOPAZ1 Gene

Post-translational modifications for TOPAZ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TOPAZ1 Gene

No data available for DME Specific Peptides for TOPAZ1 Gene

Domains & Families for TOPAZ1 Gene

Protein Domains for TOPAZ1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with TOPAZ1: view

No data available for Gene Families , Suggested Antigen Peptide Sequences and UniProtKB/Swiss-Prot for TOPAZ1 Gene

Function for TOPAZ1 Gene

Gene Ontology (GO) - Molecular Function for TOPAZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with TOPAZ1: view
genes like me logo Genes that share phenotypes with TOPAZ1: view

Animal Models for TOPAZ1 Gene

MGI Knock Outs for TOPAZ1:

Animal Model Products

miRNA for TOPAZ1 Gene

miRTarBase miRNAs that target TOPAZ1

Inhibitory RNA Products

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TOPAZ1 Gene

Localization for TOPAZ1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TOPAZ1 Gene

Cytoplasm, cytosol.

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 TOPAZ1 gene
Compartment Confidence
cytosol 4
nucleus 3

Gene Ontology (GO) - Cellular Components for TOPAZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with TOPAZ1: view

Pathways & Interactions for TOPAZ1 Gene

SuperPathways for TOPAZ1 Gene

No Data Available

Interacting Proteins for TOPAZ1 Gene

Selected Interacting proteins: Q8N9V7-TOPZ1_HUMAN for TOPAZ1 Gene via IID

Symbol External ID(s) Details
CBX6

Gene Ontology (GO) - Biological Process for TOPAZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA --
GO:0007286 spermatid development IEA --
GO:0048137 spermatocyte division IEA --
GO:0098781 ncRNA transcription IEA --
GO:1901995 positive regulation of meiotic cell cycle phase transition IEA --
genes like me logo Genes that share ontologies with TOPAZ1: view

No data available for Pathways by source and SIGNOR curated interactions for TOPAZ1 Gene

Drugs & Compounds for TOPAZ1 Gene

No Compound Related Data Available

Transcripts for TOPAZ1 Gene

mRNA/cDNA for TOPAZ1 Gene

(4) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for TOPAZ1 Gene

Testis and ovary specific PAZ domain containing 1:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TOPAZ1 Gene

No ASD Table

Relevant External Links for TOPAZ1 Gene

GeneLoc Exon Structure for
TOPAZ1
ECgene alternative splicing isoforms for
TOPAZ1

Expression for TOPAZ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TOPAZ1 Gene

mRNA differential expression in normal tissues according to GTEx for TOPAZ1 Gene

This gene is overexpressed in Testis (x48.6).

Protein differential expression in normal tissues from HIPED for TOPAZ1 Gene

This gene is overexpressed in Nasal epithelium (51.9) and Cerebrospinal fluid (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TOPAZ1 Gene



NURSA nuclear receptor signaling pathways regulating expression of TOPAZ1 Gene:

TOPAZ1

SOURCE GeneReport for Unigene cluster for TOPAZ1 Gene:

Hs.132125
genes like me logo Genes that share expression patterns with TOPAZ1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for TOPAZ1 Gene

Orthologs for TOPAZ1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for TOPAZ1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TOPAZ1 34 35
  • 99.51 (n)
dog
(Canis familiaris)
Mammalia TOPAZ1 34 35
  • 88.48 (n)
cow
(Bos Taurus)
Mammalia TOPAZ1 34 35
  • 85.61 (n)
mouse
(Mus musculus)
Mammalia Topaz1 34 16 35
  • 78.85 (n)
rat
(Rattus norvegicus)
Mammalia Topaz1 34
  • 78.22 (n)
oppossum
(Monodelphis domestica)
Mammalia TOPAZ1 35
  • 60 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TOPAZ1 35
  • 30 (a)
OneToOne
chicken
(Gallus gallus)
Aves TOPAZ1 34 35
  • 55.62 (n)
lizard
(Anolis carolinensis)
Reptilia TOPAZ1 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia topaz1 34
  • 62.26 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10401 34
Species where no ortholog for TOPAZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • zebrafish (Danio rerio)

Evolution for TOPAZ1 Gene

ENSEMBL:
Gene Tree for TOPAZ1 (if available)
TreeFam:
Gene Tree for TOPAZ1 (if available)

Paralogs for TOPAZ1 Gene

No data available for Paralogs for TOPAZ1 Gene

Variants for TOPAZ1 Gene

Sequence variations from dbSNP and Humsavar for TOPAZ1 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000001693 -- 44,308,472(+) TTATG(C/G)CTGCA intron-variant
rs1000007878 -- 44,247,567(+) CTGAA(C/T)TCCAA intron-variant
rs1000033099 -- 44,334,847(+) AGGAG(A/G)TAATC intron-variant
rs1000083171 -- 44,277,802(+) TCTCT(A/C)TTGCT intron-variant
rs1000105647 -- 44,285,677(+) CGATT(C/G)TCCTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TOPAZ1 Gene

Variant ID Type Subtype PubMed ID
dgv4729n100 CNV loss 25217958
esv2675800 CNV deletion 23128226
esv2725212 CNV deletion 23290073
esv3596031 CNV loss 21293372
nsv476653 CNV novel sequence insertion 20440878
nsv834674 CNV gain 17160897
nsv954475 CNV duplication 24416366

Variation tolerance for TOPAZ1 Gene

Gene Damage Index Score: 4.68; 65.94% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TOPAZ1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TOPAZ1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TOPAZ1 Gene

Disorders for TOPAZ1 Gene

Relevant External Links for TOPAZ1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TOPAZ1

No disorders were found for TOPAZ1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TOPAZ1 Gene

Publications for TOPAZ1 Gene

  1. TOPAZ1, a novel germ cell-specific expressed gene conserved during evolution across vertebrates. (PMID: 22069478) Baillet A. … Mandon-PAcpin B. (PLoS ONE 2011) 2 3 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PMID: 23382691) Lauc G. … Rudan I. (PLoS Genet. 2013) 3 64
  4. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 Complexes in mammalian cells. (PMID: 21282530) Vandamme J. … Angrand P.O. (Mol. Cell. Proteomics 2011) 3 64
  5. The full-ORF clone resource of the German cDNA consortium. (PMID: 17974005) Bechtel S. … Schupp I. (BMC Genomics 2007) 4 64

Products for TOPAZ1 Gene

Sources for TOPAZ1 Gene

Content
Loading form....