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TOPAZ1 Gene

protein-coding   GIFtS: 31
GCID: GC03P044283

Testis And Ovary Specific PAZ Domain Containing 1

(Previous name: chromosome 3 open reading frame 77)
(Previous symbol: C3orf77)
  Search for TOPAZ1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Testis And Ovary Specific PAZ Domain Containing 11 2
C3orf771 2 3 5
Chromosome 3 Open Reading Frame 771
Testis And Ovary-Specific PAZ Domain Gene 12
Testis- And Ovary-Specific PAZ Domain-Containing Protein 12
Topaz 12

External Ids:    HGNC: 247461   Entrez Gene: 3753372   Ensembl: ENSG000001737697   OMIM: 6144125   UniProtKB: Q8N9V73   

Export aliases for TOPAZ1 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for TOPAZ1 Gene:
TOPAZ1 (testis and ovary specific PAZ domain containing 1) is a protein-coding gene.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Search for regulatory transcription factor binding sites for TOPAZ1
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for TOPAZ1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TOPAZ1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.33

TOPAZ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TOPAZ1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P044283:  view genomic region     (about GC identifiers)

Start:
44,283,378 bp from pter      End:
44,373,590 bp from pter
Size:
90,213 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TOPZ1_HUMAN, Q8N9V7 (See protein sequence)
Recommended Name: Testis- and ovary-specific PAZ domain-containing protein 1  
Size: 1692 amino acids; 190927 Da

Explore the universe of human proteins at neXtProt for TOPAZ1: NX_Q8N9V7

Explore proteomics data for TOPAZ1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See TOPAZ1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001138502.1  
    ENSEMBL proteins: 
     ENSP00000310303  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    ProtoNet protein and cluster: Q8N9V7

    UniProtKB/Swiss-Prot: TOPZ1_HUMAN, Q8N9V7
    Similarity: Contains 1 C3H1-type zinc finger


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with TOPAZ1           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TOPAZ1:
     Decreased viability of wild-ty 

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TOPZ1_HUMAN, Q8N9V7: Cytoplasm, cytosol (By similarity)

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol IEA--

    Find genes that share ontologies with TOPAZ1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TOPAZ1
    Interactions:

        Search GeneGlobe Interaction Network for TOPAZ1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for TOPAZ1 (Q8N9V73 ENSP000003103034) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDIT3P356383I2D: score=1 
    CBX6ENSP000003844904STRING: ENSP00000384490
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TOPAZ1 (TOPZ1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TOPAZ1 gene: 
    NM_001145030.1  

    Unigene Cluster for TOPAZ1:

    Testis and ovary specific PAZ domain containing 1
    Hs.132125  [show with all ESTs]
    Unigene Representative Sequence: NM_001145030
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000309765(uc003cna.4)
    miRNA
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    Additional mRNA sequence: 

    AK093476.1 BX648094.1 

    2 DOTS entries:

    DT.99927736  DT.202132 

    9 AceView cDNA sequences:

    BX648094 AA953393 AI041291 AI208289 BQ441308 AI222444 AX748152 AK093476 
    BX093296 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TOPAZ1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    TOPAZ1 Expression
    About this image

    TOPAZ1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TOPAZ1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.132125
        Custom PCR Arrays for TOPAZ1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TOPAZ1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for TOPAZ1 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Topaz11 , 5 predicted gene 95245
    testis and ovary specific PAZ domain containing 11
    78.85(n)1
    68.52(a)1
      9 (73.10 cM)5
    6712321  NM_001199736.11  NP_001186665.11 
     1227473465 
    chicken
    (Gallus gallus)
    Aves TOPAZ11 testis and ovary specific PAZ domain containing 1 55.62(n)
    42.97(a)
      100857244  XM_003640738.2  XP_003640786.2 
    lizard
    (Anolis carolinensis)
    Reptilia TOPAZ16
    testis and ovary specific PAZ domain containing 1
    61(a)
    1 ↔ 1
    1(193215507-193271675)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.104012 Xenopus laevis transcribed sequences 78.39(n)    BX850577.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TOPAZ1 (see all 1527)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1846909901,2
    Cuntested144286241(+) CATACA/G/TAAATA 2 Q R mis10--------
    rs1170501951,2
    F--44281472(+) TGGCAC/TATCTA 1 -- us2k11Minor allele frequency- T:0.02EA 120
    rs1490949451,2
    --44281500(+) GAGGAC/TACACT 1 -- us2k10--------
    rs1837041861,2
    --44281516(+) ATTTTA/CCAGAT 1 -- us2k10--------
    rs1882272651,2
    --44281553(+) ATAAAA/GTGAAT 1 -- us2k10--------
    rs14636831,2
    C,F,H--44281718(-) TTCTGA/GGGAGC 1 -- us2k119Minor allele frequency- G:0.23NA EA NS WA CSA 1459
    rs14636821,2
    C,F,A,H--44281879(-) GCTTCC/TTTCCA 1 -- us2k18Minor allele frequency- T:0.24NS EA WA NA CSA 525
    rs1431270541,2
    --44281916(+) GTTGAA/GCTGTG 1 -- us2k10--------
    rs1160576271,2
    C,F--44282013(+) ATCTTG/TAAGGG 1 -- us2k11Minor allele frequency- T:0.01NA 120
    rs98792851,2
    H--44282152(+) GGCAGG/CCTATG 1 -- us2k14Minor allele frequency- C:0.00NS EA 420

    HapMap Linkage Disequilibrium report for TOPAZ1 (44283378 - 44373590 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for TOPAZ1: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing TOPAZ1
    DNA2.0 Custom Variant and Variant Library Synthesis for TOPAZ1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614412    OMIM disorders: --


    Find genes that share disorders with TOPAZ1           About GenesLikeMe


    Export disorders for TOPAZ1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TOPAZ1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with TOPAZ1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. TOPAZ1, a novel germ cell-specific expressed gene conserved during evolution across vertebrates. (PubMed id 22069478)1, 3 Baillet A....Mandon-PAcpin B. (PLoS ONE 2011)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (PubMed id 23382691)1 Lauc G....Rudan I. (PLoS Genet. 2013)
    4. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 Complexes in mammalian cells. (PubMed id 21282530)1 Vandamme J.... Angrand P.O. (Mol. Cell. Proteomics 2011)
    5. The full-ORF clone resource of the German cDNA consortium. (PubMed id 17974005)2 Bechtel S.... Schupp I. (BMC Genomics 2007)
    6. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (Nature 2006)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 375337 HGNC: 24746 AceView: FLJ36157 Ensembl:ENSG00000173769 euGenes: HUgn375337
    ECgene: TOPAZ1 H-InvDB: TOPAZ1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TOPAZ1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TOPAZ1 gene:
    Search GeneIP for patents involving TOPAZ1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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     Browse ESI BIO Cell Lines and PureStem Progenitors for TOPAZ1
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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