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

    Gene ID: 8563, updated on 9-Jun-2024

    Summary

    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 several processes, including monocyte differentiation; negative regulation of DNA damage checkpoint; and viral mRNA export from host cell nucleus. Located in nucleoplasm. Part of THO complex part of transcription export complex. Colocalizes with chromosome, telomeric region. Implicated in breast carcinoma. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis (RPKM 10.3), endometrium (RPKM 6.9) and 25 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See THOC5 in Genome Data Viewer
    Location:
    22q12.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (29505879..29553757, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (29969253..30017117, complement)
    105.20220307 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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    Preferred Names
    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)

    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_001002877.2NP_001002877.1  THO complex subunit 5 homolog

      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:97452
      FimP; Fms-interacting protein
    2. NM_001002878.1NP_001002878.1  THO complex subunit 5 homolog

      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:97452
      FimP; Fms-interacting protein
    3. NM_001002879.1NP_001002879.1  THO complex subunit 5 homolog

      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:97452
      FimP; Fms-interacting protein
    4. NM_003678.5NP_003669.4  THO complex subunit 5 homolog

      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:97452
      FimP; Fms-interacting protein

    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_000022.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_005261797.2XP_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:97463
      FimP; Fms-interacting protein
    2. XM_005261798.2XP_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:97463
      FimP; Fms-interacting protein
    3. XM_005261799.2XP_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:97463
      FimP; Fms-interacting protein
    4. XM_047441559.1XP_047297515.1  THO complex subunit 5 homolog isoform X2

      UniProtKB/Swiss-Prot
      O60839, Q13769, Q9UPZ5
    5. XM_047441558.1XP_047297514.1  THO complex subunit 5 homolog isoform X1

    6. XM_006724347.2XP_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:97463
      FimP; Fms-interacting protein
    7. XM_005261801.5XP_005261858.1  THO complex subunit 5 homolog isoform X3

      Conserved Domains (1) summary
      pfam09766
      Location:1113
      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_054326071.1XP_054182046.1  THO complex subunit 5 homolog isoform X1

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

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

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

      UniProtKB/Swiss-Prot
      O60839, Q13769, Q9UPZ5
    5. XM_054326074.1XP_054182049.1  THO complex subunit 5 homolog isoform X1

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

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