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

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

Summary

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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
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Genomic context

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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

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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. INTS8 is a therapeutic target for intrahepatic cholangiocarcinoma via the integration of bioinformatics analysis and experimental validation. Zhou Q, et al. Sci Rep, 2021 Dec 8. PMID 34880328, Free PMC Article
  2. Human mutations in integrator complex subunits link transcriptome integrity to brain development. Oegema R, et al. PLoS Genet, 2017 May. PMID 28542170, Free PMC Article
  3. Structure of the catalytic core of the Integrator complex. Pfleiderer MM, et al. Mol Cell, 2021 Mar 18. PMID 33548203, 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. 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

See all (38) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. INTS8 is a therapeutic target for intrahepatic cholangiocarcinoma via the integration of bioinformatics analysis and experimental validation.
    Title: INTS8 is a therapeutic target for intrahepatic cholangiocarcinoma via the integration of bioinformatics analysis and experimental validation.
  2. Integrator Recruits Protein Phosphatase 2A to Prevent Pause Release and Facilitate Transcription Termination.
    Title: Integrator Recruits Protein Phosphatase 2A to Prevent Pause Release and Facilitate Transcription Termination.
  3. Mutations INTS8 cause a severe neurodevelopmental syndrome. INTS8 mutations lead in vitro to instability of the complex and impaired function.
    Title: Human mutations in integrator complex subunits link transcriptome integrity to brain development.
  4. 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

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

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

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

  • 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

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Preferred Names
integrator complex subunit 8
Names
protein kaonashi-1

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.

Genomic

  1. NG_047163.1 RefSeqGene

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

mRNA and Protein(s)

  1. NM_017864.4 → NP_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_047421951.1 → XP_047277907.1  integrator complex subunit 8 isoform X1

  2. XM_047421952.1 → XP_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_054360786.1 → XP_054216761.1  integrator complex subunit 8 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q75QN2.1 GenPept UniProtKB/Swiss-Prot:Q75QN2

Gene LinkOut

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

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