Format

Send to:

Choose Destination

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

Gene ID: 55656, updated on 26-May-2016
Official Symbol
INTS8provided by HGNC
Official Full Name
integrator complex subunit 8provided by HGNC
Primary source
HGNC:HGNC:26048
See related
Ensembl:ENSG00000164941 HPRD:08626; MIM:611351; Vega:OTTHUMG00000164695
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; 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]
Orthologs
Location:
8q22.1
Exon count:
30
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 8 NC_000008.11 (94813311..94880493)
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 (C. elegans) 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

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
  • Gene Expression, organism-specific biosystem (from REACTOME)
    Gene Expression, organism-specific biosystemGene Expression covers the pathways by which genomic DNA is transcribed to yield RNA, the regulation of these transcription processes, and the pathways by which newly-made RNA Transcripts are process...
  • RNA polymerase II transcribes snRNA genes, organism-specific biosystem (from REACTOME)
    RNA polymerase II transcribes snRNA genes, organism-specific biosystemSmall nuclear RNAs (snRNAs) play key roles in splicing and some of them, specifically the U1 and U2 snRNAs, are encoded by multicopy snRNA gene clusters containing tandem arrays of genes, about 30 in...
Products Interactant Other Gene Complex Source Pubs Description

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 processing IDA
Inferred from Direct Assay
more info
PubMed 
snRNA transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
integrator complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
Preferred Names
integrator complex subunit 8
Names
protein kaonashi-1

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
    14980..72183
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_017864.3NP_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, BC136754, DA644524
    Consensus CDS
    CCDS34925.1
    UniProtKB/Swiss-Prot
    Q75QN2
    Related
    ENSP00000430338, OTTHUMP00000227242, ENST00000523731, OTTHUMT00000379794

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, OTTHUMT00000379796
  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, OTTHUMT00000379797

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p2 Primary Assembly

    Range
    94813311..94880493
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517155.1XP_011515457.1  

  2. XM_011517157.1XP_011515459.1  

    See identical proteins and their annotated locations for XP_011515459.1

  3. XM_006716602.2XP_006716665.1  

  4. XM_011517156.1XP_011515458.1  

  5. XM_006716603.2XP_006716666.1  

    See identical proteins and their annotated locations for XP_006716666.1

    Related
    ENSP00000430180, OTTHUMP00000227245, ENST00000520526, OTTHUMT00000379798

Alternate CHM1_1.1

Genomic

  1. NC_018919.2 Alternate CHM1_1.1

    Range
    95875841..95933067
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)