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    THOC7 THO complex subunit 7 [ Homo sapiens (human) ]

    Gene ID: 80145, updated on 10-Dec-2024

    Summary

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    Official Symbol
    THOC7provided by HGNC
    Official Full Name
    THO complex subunit 7provided by HGNC
    Primary source
    HGNC:HGNC:29874
    See related
    Ensembl:ENSG00000163634 MIM:611965; AllianceGenome:HGNC:29874
    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
    fSAP24; hTREX30; NIF3L1BP1
    Summary
    Predicted to enable RNA binding activity. Involved in mRNA export from nucleus. Located in chromosome, telomeric region; cytosol; and nuclear speck. Part of THO complex part of transcription export complex. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in adrenal (RPKM 20.0), colon (RPKM 19.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See THOC7 in Genome Data Viewer
    Location:
    3p14.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (63833870..63864484, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (63877497..63908141, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (63819546..63849481, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377119 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:63718649-63719284 Neighboring gene cadherin related family member 18, pseudogene Neighboring gene chromosome 3 open reading frame 49 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14497 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14498 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14499 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14500 Neighboring gene THOC7 antisense RNA 1 Neighboring gene ataxin 7 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20031 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14501 Neighboring gene ataxin 7 repeat instability region Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20032 Neighboring gene SCA7/ATXN7 antisense RNA 1 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:63946089-63946588 Neighboring gene NANOG hESC enhancer GRCh37_chr3:63950216-63950720 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20033 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20034 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20035 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:63956153-63956804 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:63958786-63959286 Neighboring gene NANOG hESC enhancer GRCh37_chr3:63986120-63986621 Neighboring gene PSMD6 antisense RNA 2 Neighboring gene PSMD6 antisense RNA 1 Neighboring gene proteasome 26S subunit, non-ATPase 6

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. THO Complex Subunit 7 Homolog Negatively Regulates Cellular Antiviral Response against RNA Viruses by Targeting TBK1. He TS, et al. Viruses, 2019 Feb 15. PMID 30769920, Free PMC Article
    2. Human THO maintains the stability of repetitive DNA. Katahira J, et al. Genes Cells, 2020 May. PMID 32065701
    3. Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP). El Bounkari O, et al. FEBS Lett, 2009 Jan 5. PMID 19059247
    4. Identification and characterization of NIF3L1 BP1, a novel cytoplasmic interaction partner of the NIF3L1 protein. Tascou S, et al. Biochem Biophys Res Commun, 2003 Sep 19. PMID 12951069
    5. Aly and THO are required for assembly of the human TREX complex and association of TREX components with the spliced mRNA. Chi B, et al. Nucleic Acids Res, 2013 Jan. PMID 23222130, Free PMC Article

    See all (59) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human THO maintains the stability of repetitive DNA.
      Title: Human THO maintains the stability of repetitive DNA.
    2. THOC7 negatively regulates type I IFN production by promoting TBK1 proteasomal degradation in Sendai virus infection
      Title: THO Complex Subunit 7 Homolog Negatively Regulates Cellular Antiviral Response against RNA Viruses by Targeting TBK1.
    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. THOC7 (50-137, amino acid numbers) binds to the N-terminal portion (1-199) of FMIP directly.
      Title: Nuclear localization of the pre-mRNA associating protein THOC7 depends upon its direct interaction with Fms tyrosine kinase interacting protein (FMIP).
    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
    Biological insights from 108 schizophrenia-associated genetic loci.
    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)

    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

    • FLJ23445

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA export from nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mRNA export from nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    part_of THO complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of THO complex part of transcription export complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of THO complex part of transcription export complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    colocalizes_with chromosome, telomeric region IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription export complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    THO complex subunit 7; THO complex subunit 7 homolog
    Names
    NIF3L1-binding protein 1
    Ngg1 interacting factor 3 like 1 binding protein 1
    THO complex 7 homolog
    functional spliceosome-associated protein 24
    ngg1-interacting factor 3-like protein 1-binding protein 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_001285387.3 → NP_001272316.1  THO complex subunit 7 isoform 2

      See identical proteins and their annotated locations for NP_001272316.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant (1). The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variant 2 and 3 encode the same isoform.
      Source sequence(s)
      AF104914, AK225110
      Consensus CDS
      CCDS74957.1
      UniProtKB/TrEMBL
      A0A5S6STF9
      Related
      ENSP00000418518.2, ENST00000469584.5
      Conserved Domains (1) summary
      pfam05615
      Location:1 → 87
      THOC7; Tho complex subunit 7

    2. NM_001285404.2 → NP_001272333.1  THO complex subunit 7 isoform 2

      See identical proteins and their annotated locations for NP_001272333.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in its 5' UTR and initiates translation at a downstream start codon, compared to variant (1). The encoded isoform (2) has a shorter N-terminus, compared to isoform 1. Both variant 2 and 3 encode the same isoform.
      Source sequence(s)
      AC104162, AF104914, BC065012, BI914906
      Consensus CDS
      CCDS74957.1
      UniProtKB/TrEMBL
      A0A5S6STF9
      Conserved Domains (1) summary
      pfam05615
      Location:1 → 87
      THOC7; Tho complex subunit 7

    3. NM_025075.4 → NP_079351.2  THO complex subunit 7 isoform 1

      See identical proteins and their annotated locations for NP_079351.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AK225110
      Consensus CDS
      CCDS2900.1
      UniProtKB/Swiss-Prot
      Q6I9Y2, Q6P1L3, Q8WUF2, Q9H5H0
      Related
      ENSP00000295899.5, ENST00000295899.10
      Conserved Domains (1) summary
      pfam05615
      Location:7 → 139
      THOC7; Tho complex subunit 7

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      63833870..63864484 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006713339.4 → XP_006713402.1  THO complex subunit 7 homolog isoform X1

      See identical proteins and their annotated locations for XP_006713402.1

      UniProtKB/TrEMBL
      A0A5S6STF9
      Conserved Domains (1) summary
      pfam05615
      Location:1 → 87
      THOC7; Tho complex subunit 7

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      63877497..63908141 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347964.1 → XP_054203939.1  THO complex subunit 7 homolog isoform X1

      UniProtKB/TrEMBL
      A0A5S6STF9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q6I9Y2.3 GenPept UniProtKB/Swiss-Prot:Q6I9Y2

    Gene LinkOut

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

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