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    TPRX1 tetrapeptide repeat homeobox 1 [ Homo sapiens (human) ]

    Gene ID: 284355, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TPRX1provided by HGNC
    Official Full Name
    tetrapeptide repeat homeobox 1provided by HGNC
    Primary source
    HGNC:HGNC:32174
    See related
    Ensembl:ENSG00000178928 MIM:611166; AllianceGenome:HGNC:32174
    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
    TPRX
    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 gene is a member of the TPRX homeobox gene family. [provided by RefSeq, Jul 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    all
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    Genomic context

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    See TPRX1 in Genome Data Viewer
    Location:
    19q13.33
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (47801232..47819051, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (50632045..50649890, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (48304489..48322308, complement)

    Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10869 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 10870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:48284325-48284910 Neighboring gene selenoprotein W Neighboring gene ribosomal protein L23a pseudogene 80 Neighboring gene cone-rod homeobox Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:48342812-48343337 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:48352354-48353156 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:48353157-48353960 Neighboring gene tetrapeptide repeat homeobox 2

    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. 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
    2. Characterization and target genes of nine human PRD-like homeobox domain genes expressed exclusively in early embryos. Madissoon E, et al. Sci Rep, 2016 Jul 14. PMID 27412763, Free PMC Article
    3. Annotation, nomenclature and evolution of four novel homeobox genes expressed in the human germ line. Booth HA, et al. Gene, 2007 Jan 31. PMID 17005330
    4. Interaction network of human early embryonic transcription factors. Gawriyski L, et al. EMBO Rep, 2024 Mar. PMID 38297188, Free PMC Article
    5. A census of human transcription factors: function, expression and evolution. Vaquerizas JM, et al. Nat Rev Genet, 2009 Apr. PMID 19274049

    See all (10) 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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ40321

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in maternal-to-zygotic transition of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    tetra-peptide repeat homeobox protein 1
    Names
    CRX like homeobox 2
    tetra-peptide repeat homeobox 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_001397346.1 → NP_001384275.1  tetra-peptide repeat homeobox protein 1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC008745
      Consensus CDS
      CCDS92654.1
      UniProtKB/Swiss-Prot
      A5D8Y3, B2RPL5, Q8N7U7
      UniProtKB/TrEMBL
      A0A8V8TMK4
      Related
      ENSP00000513863.1, ENST00000698655.1
      Conserved Domains (1) summary
      cd00086
      Location:21 → 79
      homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

    2. NM_198479.3 → NP_940881.3  tetra-peptide repeat homeobox protein 1 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC008745
      Consensus CDS
      CCDS33066.2
      UniProtKB/Swiss-Prot
      A5D8Y3, B2RPL5, Q8N7U7
      UniProtKB/TrEMBL
      D2CFI5
      Related
      ENSP00000438832.1, ENST00000535759.2
      Conserved Domains (1) summary
      pfam00046
      Location:66 → 122
      Homeobox; Homeobox domain

    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_000019.10 Reference GRCh38.p14 Primary Assembly

      Range
      47801232..47819051 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060943.1 Alternate T2T-CHM13v2.0

      Range
      50632045..50649890 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N7U7.3 GenPept UniProtKB/Swiss-Prot:Q8N7U7

    Gene LinkOut

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

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