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    TPRXL tetrapeptide repeat homeobox like (pseudogene) [ Homo sapiens (human) ]

    Gene ID: 348825, updated on 2-May-2024

    Summary

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    Official Symbol
    TPRXLprovided by HGNC
    Official Full Name
    tetrapeptide repeat homeobox like (pseudogene)provided by HGNC
    Primary source
    HGNC:HGNC:32178
    See related
    Ensembl:ENSG00000292995 MIM:611167; AllianceGenome:HGNC:32178
    Gene type
    pseudo
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TPRX3P
    Summary
    Homeobox genes encode DNA-binding proteins, many of which are thought to be involved in early embryonic development. Homeobox genes encode a DNA-binding domain of 60 to 63 amino acids referred to as the homeodomain. This pseudogene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in esophagus (RPKM 1.6), testis (RPKM 1.0) and 6 other tissues See more
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    Genomic context

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    See TPRXL in Genome Data Viewer
    Location:
    3p25.1
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (13937307..14065984)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (13937908..14067930)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (13978807..14107484)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak4544 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13975708-13976208 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:13976209-13976709 Neighboring gene vomeronasal 1 receptor 20 pseudogene Neighboring gene FYVE, RhoGEF and PH domain containing 5 pseudogene 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:14004233-14005432 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:14058498-14059697 Neighboring gene uncharacterized LOC112268445 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_64840 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:14098805-14100004 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:14106267-14106839 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19495 Neighboring gene vomeronasal 1 receptor 21 pseudogene Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:14163053-14163787 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:14163788-14164523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14088 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14165995-14166729 Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4

    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. Whole exome sequencing in a case of sporadic multiple meningioma reveals shared NF2, FAM109B, and TPRXL mutations, together with unique SMARCB1 alterations in a subset of tumor nodules. Torres-Martín M, et al. Cancer Genet, 2015 Jun. PMID 25981829
    2. Translatome and transcriptome co-profiling reveals a role of TPRXs in human zygotic genome activation. Zou Z, et al. Science, 2022 Oct 7. PMID 36074823
    3. Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women. Schuh-Huerta SM, et al. Hum Reprod, 2012 Feb. PMID 22116950, Free PMC Article
    4. Interactions of pathological hallmark proteins: tubulin polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. Oláh J, et al. J Biol Chem, 2011 Sep 30. PMID 21832049, Free PMC Article
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women.
    EBI GWAS Catalog

    Variation

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    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

    Other Names

    • tetra-peptide repeat homeobox-like

    Clone Names

    • FLJ35107

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in maternal-to-zygotic transition of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    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.

    RNA

    1. NR_002223.3 RNA Sequence

      Status: VALIDATED

      Source sequence(s)
      AC090004, AK092426, BC016304, DA837466
      Related
      ENST00000326972.12

    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
      13937307..14065984
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      13937908..14067930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_182629.2: Suppressed sequence

      Description
      NM_182629.2: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q17RH7.3 GenPept UniProtKB/Swiss-Prot:Q17RH7

    Gene LinkOut

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

    Chemical Information
    Molecular Biology Databases
    Research Materials