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    TOPAZ1 testis and ovary specific TOPAZ 1 [ Homo sapiens (human) ]

    Gene ID: 375337, updated on 17-Jun-2024

    Summary

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    Official Symbol
    TOPAZ1provided by HGNC
    Official Full Name
    testis and ovary specific TOPAZ 1provided by HGNC
    Primary source
    HGNC:HGNC:24746
    See related
    Ensembl:ENSG00000173769 MIM:614412; AllianceGenome:HGNC:24746
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    C3orf77
    Summary
    Predicted to be involved in spermatid development and spermatocyte division. Predicted to act upstream of or within apoptotic process; ncRNA transcription; and positive regulation of meiotic cell cycle phase transition. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Restricted expression toward testis (RPKM 2.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See TOPAZ1 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    21
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (44241886..44336689)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (44257474..44352542)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (44283378..44373590)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124909489 Neighboring gene RNA, U6 small nuclear 367, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19760 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:44155749-44156248 Neighboring gene microRNA 138-1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19761 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:44331483-44332682 Neighboring gene uncharacterized LOC105377055 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:44379271-44379924 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14262 Neighboring gene MPRA-validated peak4626 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr3:44420112-44420270 Neighboring gene T cell activation inhibitor, mitochondrial Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19763 Neighboring gene long intergenic non-protein coding RNA 694 Neighboring gene long intergenic non-protein coding RNA 1988

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. TOPAZ1, a novel germ cell-specific expressed gene conserved during evolution across vertebrates. Baillet A, et al. PLoS One, 2011. PMID 22069478, Free PMC Article
    2. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 complexes in mammalian cells. Vandamme J, et al. Mol Cell Proteomics, 2011 Apr. PMID 21282530, Free PMC Article
    3. LncRNAs-directed PTEN enzymatic switch governs epithelial-mesenchymal transition. Hu Q, et al. Cell Res, 2019 Apr. PMID 30631154, Free PMC Article
    4. Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. Lauc G, et al. PLoS Genet, 2013. PMID 23382691, Free PMC Article
    5. A Global Analysis of the Receptor Tyrosine Kinase-Protein Phosphatase Interactome. Yao Z, et al. Mol Cell, 2017 Jan 19. PMID 28065597, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ36157

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in apoptotic process IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in ectopic germ cell programmed cell death IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in spermatocyte division IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytosol IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    protein TOPAZ1
    Names
    testis and ovary specific PAZ domain containing 1
    testis and ovary-specific PAZ domain gene 1
    testis- and ovary-specific PAZ domain-containing protein 1
    topaz 1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001145030.2 → NP_001138502.1  protein TOPAZ1

      See identical proteins and their annotated locations for NP_001138502.1

      Status: VALIDATED

      Source sequence(s)
      AC104187, AK093476, BX648094
      Consensus CDS
      CCDS46809.1
      UniProtKB/Swiss-Prot
      Q8N9V7
      Related
      ENSP00000310303.4, ENST00000309765.4
      Conserved Domains (1) summary
      pfam14669
      Location:1230 → 1463
      Asp_Glu_race_2; Putative aspartate racemase

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      44241886..44336689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011533694.3 → XP_011531996.1  protein TOPAZ1 isoform X1

      Conserved Domains (1) summary
      pfam14669
      Location:1287 → 1462
      Asp_Glu_race_2; Putative aspartate racemase

    2. XM_017006361.2 → XP_016861850.1  protein TOPAZ1 isoform X2

      Conserved Domains (1) summary
      pfam14669
      Location:1287 → 1435
      Asp_Glu_race_2; Putative aspartate racemase

    3. XM_017006362.1 → XP_016861851.1  protein TOPAZ1 isoform X3

      Conserved Domains (1) summary
      pfam14669
      Location:1287 → 1346
      Asp_Glu_race_2; Putative aspartate racemase

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      44257474..44352542
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054346462.1 → XP_054202437.1  protein TOPAZ1 isoform X1

    2. XM_054346463.1 → XP_054202438.1  protein TOPAZ1 isoform X2

    3. XM_054346464.1 → XP_054202439.1  protein TOPAZ1 isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N9V7.3 GenPept UniProtKB/Swiss-Prot:Q8N9V7

    Gene LinkOut

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