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

Gene ID: 375337, updated on 7-Apr-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
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Genomic context

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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 ncRNA transcription 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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