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    INTS8 integrator complex subunit 8 [ Homo sapiens (human) ]

    Gene ID: 55656, updated on 3-Apr-2024

    Summary

    Official Symbol
    INTS8provided by HGNC
    Official Full Name
    integrator complex subunit 8provided by HGNC
    Primary source
    HGNC:HGNC:26048
    See related
    Ensembl:ENSG00000164941 MIM:611351; AllianceGenome:HGNC:26048
    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
    INT8; NEDCHS; C8orf52
    Summary
    This gene encodes a subunit of the Integrator complex which is involved in the cleavage of small nuclear RNAs U1 and U2 within the nucleus. The encoded protein associates with RNA polymerase II and is recruited to the U1 and U2 small nuclear RNA genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
    Expression
    Ubiquitous expression in testis (RPKM 10.0), lymph node (RPKM 6.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See INTS8 in Genome Data Viewer
    Location:
    8q22.1
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (94823287..94881746)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (95948260..96006732)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (95835515..95893974)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene epithelial splicing regulatory protein 1 Neighboring gene ribosomal protein S15a pseudogene 26 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:95731221-95732175 Neighboring gene dpy-19 like 4 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27635 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr8:95906241-95906802 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19370 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19371 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19372 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19373 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 19374 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 27636 Neighboring gene small nucleolar RNA U13 Neighboring gene cyclin E2 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 6

    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

    Associated conditions

    Description Tests
    Neurodevelopmental disorder with cerebellar hypoplasia and spasticity
    MedGen: C5231415 OMIM: 618572 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Meta-analysis of genome-wide association studies in african americans provides insights into the genetic architecture of type 2 diabetes.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20530, MGC131633

    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 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
    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 nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    integrator complex subunit 8
    Names
    protein kaonashi-1

    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.

    Genomic

    1. NG_047163.1 RefSeqGene

      Range
      14977..73436
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_017864.4NP_060334.2  integrator complex subunit 8

      See identical proteins and their annotated locations for NP_060334.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the shortest transcript and encodes the functional protein.
      Source sequence(s)
      AB161944, AP003692, BC136754, DA644524
      Consensus CDS
      CCDS34925.1
      UniProtKB/Swiss-Prot
      B2RN92, Q5RKZ3, Q6P1R5, Q75QN2, Q7Z314, Q9NVS6, Q9NWY7
      UniProtKB/TrEMBL
      B3KRB0
      Related
      ENSP00000430338.1, ENST00000523731.6

    RNA

    1. NR_073444.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in an internal exon and contains two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB161944, AP003692, BC144396, DA644524
    2. NR_073445.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate splice site in an internal exon and contains an alternate internal exon, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AB161944, AP003692, BC144396, BC144397, DA644524, DA763041

    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_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      94823287..94881746
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047421951.1XP_047277907.1  integrator complex subunit 8 isoform X1

    2. XM_047421952.1XP_047277908.1  integrator complex subunit 8 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      95948260..96006732
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054360786.1XP_054216761.1  integrator complex subunit 8 isoform X2