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

Gene ID: 80145, updated on 2-Nov-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, Nov 2024]
Expression
Ubiquitous expression in adrenal (RPKM 20.0), colon (RPKM 19.8) and 25 other tissues See more
Orthologs
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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: HPA RNA-seq normal tissues 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. 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 (58) 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)

Genotypes

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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