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    INTS7 integrator complex subunit 7 [ Homo sapiens (human) ]

    Gene ID: 25896, updated on 7-Apr-2024

    Summary

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    Official Symbol
    INTS7provided by HGNC
    Official Full Name
    integrator complex subunit 7provided by HGNC
    Primary source
    HGNC:HGNC:24484
    See related
    Ensembl:ENSG00000143493 MIM:611350; AllianceGenome:HGNC:24484
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    INT7; C1orf73
    Summary
    This gene encodes a subunit of the integrator complex. The integrator complex associates with the C-terminal domain of RNA polymerase II and mediates 3'-end processing of the small nuclear RNAs U1 and U2. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
    Expression
    Broad expression in testis (RPKM 9.9), lymph node (RPKM 3.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    1q32.3
    Exon count:
    22
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (211940403..212035557, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (211186567..211281644, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (212113745..212208899, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene lysophosphatidylglycerol acyltransferase 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1792 Neighboring gene LPGAT1 antisense RNA 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:212028571-212028750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2490 Neighboring gene Sharpr-MPRA regulatory region 10612 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_3305 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:212101684-212102185 Neighboring gene peptidyl-prolyl cis-trans isomerase NIMA-interacting 4-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2491 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2492 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2493 Neighboring gene NANOG hESC enhancer GRCh37_chr1:212120901-212121513 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:212141376-212141876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:212141877-212142377 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2494 Neighboring gene small nucleolar RNA SNORA26 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2495 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:212208838-212209374 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:212209375-212209909 Neighboring gene MPRA-validated peak685 silencer Neighboring gene ribosomal protein L21 pseudogene 28 Neighboring gene denticleless E3 ubiquitin protein ligase homolog Neighboring gene microRNA 3122

    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. The integrator complex recognizes a new double mark on the RNA polymerase II carboxyl-terminal domain. Egloff S, et al. J Biol Chem, 2010 Jul 2. PMID 20457598, Free PMC Article
    2. Transcriptional regulation of an evolutionary conserved intergenic region of CDT2-INTS7. Nakagawa H, et al. PLoS One, 2008 Jan 23. PMID 18213392, Free PMC Article
    3. Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel Loci. Greenwood TA, et al. Biol Psychiatry, 2012 Aug 15. PMID 22365631, Free PMC Article
    4. Structure of the catalytic core of the Integrator complex. Pfleiderer MM, et al. Mol Cell, 2021 Mar 18. PMID 33548203, Free PMC Article
    5. 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

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. 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.
    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
    Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
    EBI GWAS Catalog
    Genome-wide association study of temperament in bipolar disorder reveals significant associations with three novel 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

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of integrator complex subunit 7 (INTS7) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Go to the HIV-1, Human Interaction Database

    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

    • DKFZp434B168

    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 DNA damage checkpoint signaling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to ionizing radiation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of transcription elongation by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in snRNA 3'-end 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
    located_in chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 nuclear body 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 
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    integrator complex subunit 7

    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_001199809.2 → NP_001186738.1  integrator complex subunit 7 isoform 4

      See identical proteins and their annotated locations for NP_001186738.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the 5' coding region, but maintains the reading frame, compared to variant 1. This variant encodes isoform 4, which is shorter than isoform 1.
      Source sequence(s)
      AC092814, AK001598, AK297225, BC009918, DB062625
      Consensus CDS
      CCDS55683.1
      UniProtKB/Swiss-Prot
      Q9NVH2
      Related
      ENSP00000388908.2, ENST00000440600.6

    2. NM_001199811.2 → NP_001186740.1  integrator complex subunit 7 isoform 2

      See identical proteins and their annotated locations for NP_001186740.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC092814, BC009918, BC020523, DB062625
      Consensus CDS
      CCDS55685.1
      UniProtKB/Swiss-Prot
      Q9NVH2
      Related
      ENSP00000355960.3, ENST00000366993.7

    3. NM_001199812.2 → NP_001186741.1  integrator complex subunit 7 isoform 3

      See identical proteins and their annotated locations for NP_001186741.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 3), compared to isoform 1.
      Source sequence(s)
      AC092814, AK001363, BC009918, DB062625
      Consensus CDS
      CCDS55684.1
      UniProtKB/Swiss-Prot
      Q9NVH2
      Related
      ENSP00000355959.3, ENST00000366992.7

    4. NM_015434.4 → NP_056249.1  integrator complex subunit 7 isoform 1

      See identical proteins and their annotated locations for NP_056249.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longest isoform (1).
      Source sequence(s)
      AC092814, AK001598, BC009918, DB062625
      Consensus CDS
      CCDS1501.1
      UniProtKB/Swiss-Prot
      B4DLZ6, B7WNP6, B7WPB6, Q8N4K7, Q8WUH5, Q9H9V3, Q9NVH2, Q9NVU5, Q9UFC6, Q9UFM3
      Related
      ENSP00000355961.3, ENST00000366994.8

    RNA

    1. NR_037667.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an alternate exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC092814, BC009918, DB062625
      Related
      ENST00000469606.5

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      211940403..212035557 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047417179.1 → XP_047273135.1  integrator complex subunit 7 isoform X1

    2. XM_017000962.2 → XP_016856451.1  integrator complex subunit 7 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      211186567..211281644 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335857.1 → XP_054191832.1  integrator complex subunit 7 isoform X1

    2. XM_054335858.1 → XP_054191833.1  integrator complex subunit 7 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NVH2.1 GenPept UniProtKB/Swiss-Prot:Q9NVH2

    Gene LinkOut

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

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