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    THOC5 THO complex subunit 5 [ Homo sapiens (human) ]

    Gene ID: 8563, updated on 27-Nov-2024

    Summary

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    Official Symbol
    THOC5provided by HGNC
    Official Full Name
    THO complex subunit 5provided by HGNC
    Primary source
    HGNC:HGNC:19074
    See related
    Ensembl:ENSG00000100296 MIM:612733; AllianceGenome:HGNC:19074
    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
    Fmip; PK1.3; fSAP79; C22orf19
    Summary
    Predicted to enable mRNA binding activity. Involved in mRNA export from nucleus and monocyte differentiation. Located in chromosome, telomeric region and nucleoplasm. Part of THO complex part of transcription export complex. Implicated in breast carcinoma. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 10.3), endometrium (RPKM 6.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See THOC5 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29505879..29553757, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29969253..30017117, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (29901868..29949746, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107985541 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29856012-29856563 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29859341-29859868 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29859869-29860396 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29866133-29866633 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:29874167-29874668 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29877229-29878083 Neighboring gene neurofilament heavy chain Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29947869-29948568 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr22:29949966-29950663 Neighboring gene nipsnap homolog 1 Neighboring gene Sharpr-MPRA regulatory region 2653 Neighboring gene Sharpr-MPRA regulatory region 10387 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:29976263-29976875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13593 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13594 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18817 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13595 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr22:30002345-30002866 Neighboring gene ribulose-5-phosphate-3-epimerase pseudogene 4 Neighboring gene NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor

    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. Polymorphism of the THOC5 of the transcription/export multiprotein complex and its correlation with the lipid and metabolic profile in middle-aged women. Loja-Chango R, et al. Gynecol Endocrinol, 2020 Mar. PMID 31402763
    2. Cloning of a novel, anonymous gene from a megabase-range YAC and cosmid contig in the neurofibromatosis type 2/meningioma region on human chromosome 22q12. Xie YG, et al. Hum Mol Genet, 1993 Sep. PMID 8242058
    3. Human THO coordinates transcription termination and subsequent transcript release from the HSP70 locus. Katahira J, et al. Genes Cells, 2019 Apr. PMID 30721563
    4. THOC5 spliceosome protein: a target for leukaemogenic tyrosine kinases that affects inositol lipid turnover. Pierce A, et al. Br J Haematol, 2008 May. PMID 18373705
    5. A pathway from leukemogenic oncogenes and stem cell chemokines to RNA processing via THOC5. Griaud F, et al. Leukemia, 2013 Apr. PMID 23032722

    See all (93) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. THOC5 regulates human osteoclastogenesis.
      Title: THOC5 regulates human osteoclastogenesis.
    2. RNA editing enzyme APOBEC3A promotes pro-inflammatory M1 macrophage polarization.
      Title: RNA editing enzyme APOBEC3A promotes pro-inflammatory M1 macrophage polarization.
    3. Polymorphism of the THOC5 of the transcription/export multiprotein complex and its correlation with the lipid and metabolic profile in middle-aged women.
      Title: Polymorphism of the THOC5 of the transcription/export multiprotein complex and its correlation with the lipid and metabolic profile in middle-aged women.
    4. Human THO maintains the stability of repetitive DNA.
      Title: Human THO maintains the stability of repetitive DNA.
    5. THOC5 regulates transcription termination and subsequent transcript release from the HSPA1A locus.
      Title: Human THO coordinates transcription termination and subsequent transcript release from the HSP70 locus.
    6. Data suggest that the suppression of the multiple THOC5 target genes may represent a novel strategy for hepatocellular carcinoma (HCC) therapy.
      Title: Depletion of three combined THOC5 mRNA export protein target genes synergistically induces human hepatocellular carcinoma cell death.
    7. THOC5 to be a novel gene involved in the regulation of serum HDL-C levels
      Title: THOC5: a novel gene involved in HDL-cholesterol metabolism.
    8. Authors suggest a model in which human Thoc5 controls polyadenylation site choice through the co-transcriptional loading of CFIm68 onto target genes.
      Title: Human TREX component Thoc5 affects alternative polyadenylation site choice by recruiting mammalian cleavage factor I.
    9. show that THOC5 Y225 phosphorylation governs mRNA binding. In addition, CXCL12 is shown to induce THOC5 Y225 phosphorylation, and site-directed mutagenesis demonstrates that this modulates motile response
      Title: A pathway from leukemogenic oncogenes and stem cell chemokines to RNA processing via THOC5.
    10. show here that DNA damage drastically decreased the cytoplasmic pool of a set of THOC5-dependent mRNAs and impaired the THOC5/mRNA complex formation
      Title: An ataxia-telangiectasia-mutated (ATM) kinase mediated response to DNA damage down-regulates the mRNA-binding potential of THOC5.
    Submit: New GeneRIF Correction See all GeneRIFs (13)

    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
    A genome-wide association study of carotid atherosclerosis in HIV-infected men.
    EBI GWAS Catalog
    THOC5: a novel gene involved in HDL-cholesterol metabolism.
    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

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables mRNA binding IBA
    Inferred from Biological aspect of Ancestor
    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 export from nucleus IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in monocyte differentiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in primitive hemopoiesis ISS
    Inferred from Sequence or Structural Similarity
    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 IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nucleoplasm 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 5; THO complex subunit 5 homolog
    Names
    Fms-interacting protein
    NF2/meningioma region protein pK1.3
    PP39.2
    THO complex 5
    functional spliceosome-associated protein 79
    hTREX90
    placental protein 39.2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    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_001002877.2 → NP_001002877.1  THO complex subunit 5

      See identical proteins and their annotated locations for NP_001002877.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AB023200, AC005529, BQ184247, BX381026, BX400943, BX404329, CR456542
      Consensus CDS
      CCDS13859.1
      UniProtKB/Swiss-Prot
      O60839, Q13769, Q9UPZ5
      Related
      ENSP00000380971.2, ENST00000397873.6
      Conserved Domains (1) summary
      pfam09766
      Location:97 → 452
      FimP; Fms-interacting protein

    2. NM_001002878.1 → NP_001002878.1  THO complex subunit 5

      See identical proteins and their annotated locations for NP_001002878.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. All four variants encode the same protein.
      Source sequence(s)
      AB023200, BQ184247, BX400943, BX404329, CN387648, CR456542
      Consensus CDS
      CCDS13859.1
      UniProtKB/Swiss-Prot
      O60839, Q13769, Q9UPZ5
      Related
      ENSP00000380970.1, ENST00000397872.5
      Conserved Domains (1) summary
      pfam09766
      Location:97 → 452
      FimP; Fms-interacting protein

    3. NM_001002879.1 → NP_001002879.1  THO complex subunit 5

      See identical proteins and their annotated locations for NP_001002879.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AB023200, BQ184247, BU187531, BX400943, BX404329, CR456542
      Consensus CDS
      CCDS13859.1
      UniProtKB/Swiss-Prot
      O60839, Q13769, Q9UPZ5
      Related
      ENSP00000380969.1, ENST00000397871.5
      Conserved Domains (1) summary
      pfam09766
      Location:97 → 452
      FimP; Fms-interacting protein

    4. NM_003678.5 → NP_003669.4  THO complex subunit 5

      See identical proteins and their annotated locations for NP_003669.4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. All four variants encode the same protein.
      Source sequence(s)
      AB023200, AC005529, BQ184247, BX400943, BX404329, CR456542
      Consensus CDS
      CCDS13859.1
      UniProtKB/Swiss-Prot
      O60839, Q13769, Q9UPZ5
      Related
      ENSP00000420306.1, ENST00000490103.6
      Conserved Domains (1) summary
      pfam09766
      Location:97 → 452
      FimP; Fms-interacting 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_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      29505879..29553757 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005261797.2 → XP_005261854.1  THO complex subunit 5 homolog isoform X1

      See identical proteins and their annotated locations for XP_005261854.1

      Conserved Domains (1) summary
      pfam09766
      Location:97 → 463
      FimP; Fms-interacting protein

    2. XM_005261798.2 → XP_005261855.1  THO complex subunit 5 homolog isoform X1

      See identical proteins and their annotated locations for XP_005261855.1

      Conserved Domains (1) summary
      pfam09766
      Location:97 → 463
      FimP; Fms-interacting protein

    3. XM_005261799.2 → XP_005261856.1  THO complex subunit 5 homolog isoform X1

      See identical proteins and their annotated locations for XP_005261856.1

      Conserved Domains (1) summary
      pfam09766
      Location:97 → 463
      FimP; Fms-interacting protein

    4. XM_047441559.1 → XP_047297515.1  THO complex subunit 5 homolog isoform X2

      UniProtKB/Swiss-Prot
      O60839, Q13769, Q9UPZ5

    5. XM_047441558.1 → XP_047297514.1  THO complex subunit 5 homolog isoform X1

    6. XM_006724347.2 → XP_006724410.1  THO complex subunit 5 homolog isoform X1

      See identical proteins and their annotated locations for XP_006724410.1

      Conserved Domains (1) summary
      pfam09766
      Location:97 → 463
      FimP; Fms-interacting protein

    7. XM_005261801.5 → XP_005261858.1  THO complex subunit 5 homolog isoform X3

      Conserved Domains (1) summary
      pfam09766
      Location:1 → 113
      FimP; Fms-interacting protein

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      29969253..30017117 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054326071.1 → XP_054182046.1  THO complex subunit 5 homolog isoform X1

    2. XM_054326070.1 → XP_054182045.1  THO complex subunit 5 homolog isoform X1

    3. XM_054326073.1 → XP_054182048.1  THO complex subunit 5 homolog isoform X1

    4. XM_054326075.1 → XP_054182050.1  THO complex subunit 5 homolog isoform X2

      UniProtKB/Swiss-Prot
      O60839, Q13769, Q9UPZ5

    5. XM_054326074.1 → XP_054182049.1  THO complex subunit 5 homolog isoform X1

    6. XM_054326072.1 → XP_054182047.1  THO complex subunit 5 homolog isoform X1

    7. XM_054326076.1 → XP_054182051.1  THO complex subunit 5 homolog isoform X3

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13769.2 GenPept UniProtKB/Swiss-Prot:Q13769

    Gene LinkOut

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

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