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

Gene ID: 55656, updated on 27-Jun-2020

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
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

Genomic context

See INTS8 in Genome Data Viewer
Location:
8q22.1
Exon count:
30
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 8 NC_000008.11 (94823287..94894664)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (95835518..95892721)

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 dpy-19 like 4 Neighboring gene ribosomal protein L17 pseudogene Neighboring gene cyclin E2 Neighboring gene NADH:ubiquinone oxidoreductase complex assembly factor 6 Neighboring gene tumor protein p53 inducible nuclear protein 1 Neighboring gene Sharpr-MPRA regulatory region 2014

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
not available

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20530, MGC131633

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
snRNA 3'-end processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
snRNA processing IDA
Inferred from Direct Assay
more info
PubMed 
snRNA transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integrator complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integrator complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
integrator complex subunit 8
Names
protein kaonashi-1

NCBI Reference Sequences (RefSeq)

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
    Q75QN2
    Related
    ENSP00000430338.1, ENST00000523731.6

RNA

  1. NR_073444.1 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, BC144396, DA644524
    Related
    ENST00000343161.8
  2. NR_073445.1 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, BC144396, BC144397, DA644524, DA763041
    Related
    ENST00000523206.5

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p13 Primary Assembly

    Range
    94823287..94894664
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017013616.1XP_016869105.1  integrator complex subunit 8 isoform X1

  2. XM_017013617.1XP_016869106.1  integrator complex subunit 8 isoform X2

  3. XM_017013618.1XP_016869107.1  integrator complex subunit 8 isoform X3

  4. XM_017013619.1XP_016869108.1  integrator complex subunit 8 isoform X4

    UniProtKB/Swiss-Prot
    Q75QN2
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