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    TDRP testis development related protein [ Homo sapiens (human) ]

    Gene ID: 157695, updated on 27-Nov-2024

    Summary

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    Official Symbol
    TDRPprovided by HGNC
    Official Full Name
    testis development related proteinprovided by HGNC
    Primary source
    HGNC:HGNC:26951
    See related
    Ensembl:ENSG00000180190 MIM:619049; AllianceGenome:HGNC:26951
    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
    Inm01; TDRP1; TDRP2; C8orf42
    Summary
    Acts upstream of or within spermatogenesis. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in placenta (RPKM 17.5), thyroid (RPKM 13.8) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TDRP in Genome Data Viewer
    Location:
    8p23.3
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (489946..545780, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (249159..342875, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (439946..495780, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:328556-329056 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26942 Neighboring gene family with sequence similarity 87 member A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18878 Neighboring gene F-box protein 25 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:429047-429548 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:429549-430048 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:436623-437436 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:437437-438248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:452724-453298 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:482877-483378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:486704-487214 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:487215-487724 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:495813-496313 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:527413-527914 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:527915-528414 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:563312-563864 Neighboring gene uncharacterized LOC124902055 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:579043-579586 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr8:580473-581672 Neighboring gene glutamate rich 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:601645-602146 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:602147-602646 Neighboring gene uncharacterized LOC124902053

    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. Association study of newly identified age-related macular degeneration susceptible loci SOD2, MBP, and C8orf42 in Han Chinese population. Kan M, et al. Diagn Pathol, 2014 Mar 25. PMID 24667176, Free PMC Article
    2. Molecular cloning of a novel nuclear factor, TDRP1, in spermatogenic cells of testis and its relationship with spermatogenesis. Wang X, et al. Biochem Biophys Res Commun, 2010 Mar 26. PMID 20170638
    3. Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels. Bielinski SJ, et al. Mayo Clin Proc, 2011 Jul. PMID 21646302, Free PMC Article
    4. Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes. Wang Y, et al. J Periodontol, 2020 Jun. PMID 31682009
    5. Regulation of MAGE-A3/6 by the CRL4-DCAF12 ubiquitin ligase and nutrient availability. Ravichandran R, et al. EMBO Rep, 2019 Jul. PMID 31267705, Free PMC Article

    See all (13) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. TDRP expression in healthy human palatal mucosa is strongly negatively correlated with serum cotinine levels
      Title: Whole transcriptome analysis of smoker palatal mucosa identifies multiple downregulated innate immunity genes.
    2. Single nucleotide polymorphisms on genetic loci SOD2, MBP and C8orf42were not found significantly associated with advanced age-related macular degeneration in a Chinese cohort
      Title: Association study of newly identified age-related macular degeneration susceptible loci SOD2, MBP, and C8orf42 in Han Chinese population.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. These current data demonstrated that as a nuclear factor, TDRP1 might play an important role in spermatogenesis.
      Title: Molecular cloning of a novel nuclear factor, TDRP1, in spermatogenic cells of testis and its relationship with spermatogenesis.
    Submit: New GeneRIF Correction

    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
    Mayo Genome Consortia: a genotype-phenotype resource for genome-wide association studies with an application to the analysis of circulating bilirubin levels.
    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44221, DKFZp686J15216

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in spermatogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within spermatogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in mitochondrion HTP PubMed 
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    testis development-related protein

    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_001256113.2 → NP_001243042.1  testis development-related protein isoform 2

      See identical proteins and their annotated locations for NP_001243042.1

      Status: VALIDATED

      Source sequence(s)
      AC083964, AC090135
      Consensus CDS
      CCDS59090.1
      UniProtKB/Swiss-Prot
      Q86YL5
      Related
      ENSP00000430325.1, ENST00000523656.5
      Conserved Domains (1) summary
      pfam15683
      Location:41 → 167
      TDRP; Testis development-related protein

    2. NM_001384899.1 → NP_001371828.1  testis development-related protein isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC083964, AC090135
      Consensus CDS
      CCDS47759.1
      UniProtKB/Swiss-Prot
      B6VF03, B9EG53, Q86YL5
      Related
      ENSP00000315111.6, ENST00000324079.11
      Conserved Domains (1) summary
      pfam15683
      Location:41 → 185
      TDRP; Testis development-related protein

    3. NM_175075.5 → NP_778250.2  testis development-related protein isoform 1

      See identical proteins and their annotated locations for NP_778250.2

      Status: VALIDATED

      Source sequence(s)
      AC083964, AC090135, AC090691
      Consensus CDS
      CCDS47759.1
      UniProtKB/Swiss-Prot
      B6VF03, B9EG53, Q86YL5
      Conserved Domains (1) summary
      pfam15683
      Location:41 → 185
      TDRP; Testis development-related protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      489946..545780 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421392.1 → XP_047277348.1  testis development-related protein isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      249159..342875 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359820.1 → XP_054215795.1  testis development-related protein isoform X7

    2. XM_054359818.1 → XP_054215793.1  testis development-related protein isoform X5

    3. XM_054359816.1 → XP_054215791.1  testis development-related protein isoform X3

    4. XM_054359814.1 → XP_054215789.1  testis development-related protein isoform X2

    5. XM_054359815.1 → XP_054215790.1  testis development-related protein isoform X2

    6. XM_054359817.1 → XP_054215792.1  testis development-related protein isoform X4

    7. XM_054359821.1 → XP_054215796.1  testis development-related protein isoform X8

    8. XM_054359819.1 → XP_054215794.1  testis development-related protein isoform X6

    RNA

    1. XR_008487813.1 RNA Sequence

    2. XR_008487814.1 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001369716.1: Suppressed sequence

      Description
      NM_001369716.1: This RefSeq was removed because currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q86YL5.2 GenPept UniProtKB/Swiss-Prot:Q86YL5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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