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

Gene ID: 375337, updated on 11-Jun-2021

Summary

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
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
Expression
Restricted expression toward testis (RPKM 2.4) See more
Orthologs
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Genomic context

See TOPAZ1 in Genome Data Viewer
Location:
3p21.31
Exon count:
21
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (44241886..44337071)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (44283378..44373590)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 367, pseudogene Neighboring gene microRNA 138-1 Neighboring gene uncharacterized LOC105377055 Neighboring gene T cell activation inhibitor, mitochondrial Neighboring gene long intergenic non-protein coding RNA 1988 Neighboring gene long intergenic non-protein coding RNA 694

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

Associated conditions

Description Tests
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 ncRNA transcription IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of meiotic cell cycle phase transition IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatid development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in spermatocyte division IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in cytosol IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_001145030.2NP_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:12301463
    Asp_Glu_race_2; Putative aspartate racemase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    44241886..44337071
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533694.2XP_011531996.1  protein TOPAZ1 isoform X1

    Conserved Domains (1) summary
    pfam14669
    Location:12871462
    Asp_Glu_race_2; Putative aspartate racemase
  2. XM_017006361.1XP_016861850.1  protein TOPAZ1 isoform X2

    Conserved Domains (1) summary
    pfam14669
    Location:12871435
    Asp_Glu_race_2; Putative aspartate racemase
  3. XM_017006362.1XP_016861851.1  protein TOPAZ1 isoform X3

    Conserved Domains (1) summary
    pfam14669
    Location:12871346
    Asp_Glu_race_2; Putative aspartate racemase
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