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    INTS4 integrator complex subunit 4 [ Homo sapiens (human) ]

    Gene ID: 92105, updated on 14-Nov-2024

    Summary

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    Official Symbol
    INTS4provided by HGNC
    Official Full Name
    integrator complex subunit 4provided by HGNC
    Primary source
    HGNC:HGNC:25048
    See related
    Ensembl:ENSG00000149262 MIM:611348; AllianceGenome:HGNC:25048
    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
    INT4; MST093
    Summary
    INTS4 is a subunit of the Integrator complex, which associates with the C-terminal domain of RNA polymerase II large subunit (POLR2A; MIM 180660) and mediates 3-prime end processing of small nuclear RNAs U1 (RNU1; MIM 180680) and U2 (RNU2; MIM 180690) (Baillat et al., 2005 [PubMed 16239144]).[supplied by OMIM, Mar 2008]
    Expression
    Ubiquitous expression in lymph node (RPKM 4.0), appendix (RPKM 3.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See INTS4 in Genome Data Viewer
    Location:
    11q14.1
    Exon count:
    27
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (77874362..77994668, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (77807588..77927912, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77589766..77705714, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene remodeling and spacing factor 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77530149-77531122 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77531123-77532095 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3803 Neighboring gene ribosomal protein S20 pseudogene 27 Neighboring gene adipogenesis associated Mth938 domain containing Neighboring gene ribosomal protein L21 pseudogene 95 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77643873-77644620 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77644621-77645367 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3804 Neighboring gene MPRA-validated peak1367 silencer Neighboring gene NDUFC2-KCTD14 readthrough Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:77727696-77728196 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77733111-77733678 Neighboring gene uncharacterized LOC124902723 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77733679-77734248 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:77734249-77734816 Neighboring gene Sharpr-MPRA regulatory region 11011 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77741282-77741794 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3805 Neighboring gene Sharpr-MPRA regulatory region 10650 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:77750634-77751590 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3807 Neighboring gene potassium channel tetramerization domain containing 14 Neighboring gene NADH:ubiquinone oxidoreductase subunit C2 Neighboring gene thyroid hormone responsive

    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. The integrator complex is required for integrity of Cajal bodies. Takata H, et al. J Cell Sci, 2012 Jan 1. PMID 22250197
    2. Characterization of KIAA0513, a novel signaling molecule that interacts with modulators of neuroplasticity, apoptosis, and the cytoskeleton. Lauriat TL, et al. Brain Res, 2006 Nov 22. PMID 17010949
    3. INTS10-INTS13-INTS14 form a functional module of Integrator that binds nucleic acids and the cleavage module. Sabath K, et al. Nat Commun, 2020 Jul 9. PMID 32647223, Free PMC Article
    4. The Human Integrator Complex Facilitates Transcriptional Elongation by Endonucleolytic Cleavage of Nascent Transcripts. Beckedorff F, et al. Cell Rep, 2020 Jul 21. PMID 32697989, Free PMC Article
    5. Structure of the catalytic core of the Integrator complex. Pfleiderer MM, et al. Mol Cell, 2021 Mar 18. PMID 33548203, Free PMC Article

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. INTS4 is a specific and conserved interaction partner of INTS9/11 that does not interact with either subunit individually.
      Title: Integrator subunit 4 is a 'Symplekin-like' scaffold that associates with INTS9/11 to form the Integrator cleavage module.
    2. findings demonstrate that the integrator complex is essential for snRNA maturation and Cajal body homeostasis
      Title: The integrator complex is required for integrity of Cajal bodies.
    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

    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

    • MGC16733

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription elongation by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in snRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in snRNA processing IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in snRNA processing NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of integrator complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of integrator complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of integrator complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    is_active_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    integrator complex subunit 4
    Names
    MSTP093

    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_033547.4 → NP_291025.3  integrator complex subunit 4

      See identical proteins and their annotated locations for NP_291025.3

      Status: VALIDATED

      Source sequence(s)
      BC009859, BC009995, BC015664
      Consensus CDS
      CCDS31644.1
      UniProtKB/Swiss-Prot
      Q2YD62, Q6PJG4, Q7Z4E7, Q96G32, Q96GA1, Q96HW7, Q9BRC0
      UniProtKB/TrEMBL
      A8K4A1
      Related
      ENSP00000434466.1, ENST00000534064.6
      Conserved Domains (3) summary
      COG1413
      Location:51 → 256
      HEAT; HEAT repeat [General function prediction only]
      sd00044
      Location:199 → 221
      HEAT; HEAT repeat [structural motif]
      pfam01602
      Location:379 → 460
      Adaptin_N; Adaptin N terminal region

    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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      77874362..77994668 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017018560.3 → XP_016874049.1  integrator complex subunit 4 isoform X1

      UniProtKB/TrEMBL
      A0A8Q3SHL8, A0A8Q3WKC7
      Related
      ENSP00000511686.1, ENST00000695096.1

    2. XM_047427873.1 → XP_047283829.1  integrator complex subunit 4 isoform X3

      UniProtKB/TrEMBL
      A0A8C8UVZ7
      Related
      ENSP00000441084.2, ENST00000535943.2

    3. XM_047427872.1 → XP_047283828.1  integrator complex subunit 4 isoform X2

      UniProtKB/TrEMBL
      A0A8Q3SHT4
      Related
      ENSP00000511692.1, ENST00000695101.1

    4. XM_011545353.4 → XP_011543655.1  integrator complex subunit 4 isoform X4

      UniProtKB/TrEMBL
      A0A8Q3WKB5, A0A8Q3WKW5
      Related
      ENSP00000511696.1, ENST00000695105.1
      Conserved Domains (3) summary
      COG1413
      Location:51 → 256
      HEAT; HEAT repeat [General function prediction only]
      pfam12755
      Location:198 → 255
      Vac14_Fab1_bd; Vacuolar 14 Fab1-binding region
      sd00044
      Location:199 → 221
      HEAT; HEAT repeat [structural motif]

    RNA

    1. XR_002957208.2 RNA Sequence

    2. XR_001748036.3 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      77807588..77927912 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370508.1 → XP_054226483.1  integrator complex subunit 4 isoform X1

      UniProtKB/TrEMBL
      A0A8Q3SHL8

    2. XM_054370510.1 → XP_054226485.1  integrator complex subunit 4 isoform X3

      UniProtKB/TrEMBL
      A0A8C8UVZ7

    3. XM_054370509.1 → XP_054226484.1  integrator complex subunit 4 isoform X2

      UniProtKB/TrEMBL
      A0A8Q3SHT4

    4. XM_054370511.1 → XP_054226486.1  integrator complex subunit 4 isoform X4

      UniProtKB/TrEMBL
      A0A8Q3WKB5

    RNA

    1. XR_008488495.1 RNA Sequence

    2. XR_008488494.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96HW7.2 GenPept UniProtKB/Swiss-Prot:Q96HW7

    Gene LinkOut

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

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