Q75QN2 · INT8_HUMAN

  • Protein
    Integrator complex subunit 8
  • Gene
    INTS8
  • Status
    UniProtKB reviewed (Swiss-Prot)
  • Amino acids
  • Protein existence
    Evidence at protein level
  • Annotation score
    5/5

Function

function

Component of the Integrator complex, a complex involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and in their 3'-box-dependent processing. The Integrator complex is associated with the C-terminal domain (CTD) of RNA polymerase II largest subunit (POLR2A) and is recruited to the U1 and U2 snRNAs genes.

GO annotations

all annotationsall molecular functionvirus receptor activitydna bindingrna bindingcytoskeletal motor activitycatalytic activitygtpase activitystructural molecule activitytransporter activitycytoskeletal protein bindinglipid bindingcyclase activityantioxidant activityoxidoreductase activitytransferase activityhydrolase activitylyase activityisomerase activityligase activityprotein tag activitycargo receptor activityhistone bindingprotein folding chaperonetranslation regulator activitynutrient reservoir activityreceptor ligand activitymolecular transducer activitymolecular adaptor activitytoxin activitycell adhesion mediator activitymolecular function regulator activityvirus coreceptor activitycatalytic activity, acting on a proteincatalytic activity, acting on dnacatalytic activity, acting on rnamolecular carrier activitytranscription regulator activitygeneral transcription initiation factor activitymolecular sensor activitymolecular sequestering activityatp-dependent activityother molecular functionall biological processmitotic cell cyclecytokinesiscytoplasmic translationimmune system processmuscle system processcirculatory system processrenal system processrespiratory system processcarbohydrate metabolic processgeneration of precursor metabolites and energydna replicationdna repairdna recombinationchromatin organizationdna-templated transcriptionregulation of dna-templated transcriptiontrna metabolic processprotein foldingprotein glycosylationamino acid metabolic processmodified amino acid metabolic processlipid metabolic processvitamin metabolic processsulfur compound metabolic processintracellular protein transportnucleocytoplasmic transportautophagyinflammatory responsemitochondrion organizationcytoskeleton organizationmicrotubule-based movementperoxisome organizationlysosome organizationchromosome segregationcell adhesionestablishment or maintenance of cell polarityprogrammed cell deathphotosynthesismrna metabolic processsnrna metabolic processvesicle-mediated transportreproductive processdigestive system processsignalingcell differentiationprotein catabolic processextracellular matrix organizationregulatory ncrna-mediated gene silencingtelomere organizationcell junction organizationwound healingribosome biogenesiscilium organizationanatomical structure developmentcell motilitynervous system processendocrine processprotein maturationtransmembrane transportnucleobase-containing small molecule metabolic processhepaticobiliary system processmembrane organizationprotein-containing complex assemblycell wall organization or biogenesisnitrogen cycle metabolic processprotein localization to plasma membranedefense response to other organismdetoxificationmeiotic nuclear divisionmitotic nuclear divisionmitochondrial gene expressioncarbohydrate derivative metabolic processother biological processall cellular componentnuclear chromosomeextracellular regionextracellular spacecell wallnucleusnuclear envelopenucleoplasmchromosomenucleolusmitochondrionlysosomeendosomevacuoleperoxisomeendoplasmic reticulumgolgi apparatuslipid dropletmicrotubule organizing centercytosolribosomecytoskeletonplasma membraneciliumplastidthylakoidexternal encapsulating structureextracellular matrixcytoplasmic vesicleorganelleother cellular component
Cell color indicative of number of GO terms
AspectTerm
Cellular Componentintegrator complex
Cellular Componentnucleoplasm
Cellular Componentnucleus
Biological Processregulation of transcription elongation by RNA polymerase II
Biological ProcesssnRNA 3'-end processing
Biological ProcesssnRNA processing

Enzyme and pathway databases

Names & Taxonomy

Protein names

  • Recommended name
    Integrator complex subunit 8
  • Short names
    Int8
  • Alternative names
    • Protein kaonashi-1

Gene names

    • Name
      INTS8
    • Synonyms
      C8orf52

Organism names

  • Taxonomic identifier
  • Taxonomic lineage
    Eukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo

Accessions

  • Primary accession
    Q75QN2
  • Secondary accessions
    • B2RN92
    • Q5RKZ3
    • Q6P1R5
    • Q7Z314
    • Q9NVS6
    • Q9NWY7

Proteomes

Organism-specific databases

Subcellular Location

Keywords

Disease & Variants

Involvement in disease

Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (NEDCHS)

  • Note
    • The disease is caused by variants affecting the gene represented in this entry
  • Description
    An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, profound intellectual disability, seizures, absent speech, spasticity, facial and limb dysmorphism, and subtle structural brain abnormalities including cerebellar hypoplasia.
  • See also
    MIM:618572
Natural variants in NEDCHS
Variant IDPosition(s)ChangeDescription
VAR_083358298D>Gin NEDCHS; occurs in a splice site resulting in altered splicing and probable nonsense-mediated mRNA decay; dbSNP:rs1586479593
VAR_083359973-975missingin NEDCHS; alters the assembly of the Integrator complex

Features

Showing features for natural variant.

TypeIDPosition(s)Description
Natural variantVAR_083358298in NEDCHS; occurs in a splice site resulting in altered splicing and probable nonsense-mediated mRNA decay; dbSNP:rs1586479593
Natural variantVAR_083359973-975in NEDCHS; alters the assembly of the Integrator complex

Variants

We now provide the "Disease & Variants" viewer in its own tab.

The viewer provides 910 variants from UniProt as well as other sources including ClinVar and dbSNP.

Go to variant viewer

Keywords

Organism-specific databases

Miscellaneous

Genetic variation databases

PTM/Processing

Features

Showing features for chain, modified residue, modified residue (large scale data).

TypeIDPosition(s)SourceDescription
ChainPRO_00002595531-995UniProtIntegrator complex subunit 8
Modified residue18UniProtPhosphothreonine
Modified residue (large scale data)18PRIDEPhosphothreonine

Keywords

Proteomic databases

PTM databases

Expression

Developmental stage

Highly expressed in the brain in the ventricular and subventricular zones, caudal and lateral ganglionic eminences and cerebellar primordium at 16-21 postconceptional week.

Gene expression databases

Organism-specific databases

Interaction

Subunit

Belongs to the multiprotein complex Integrator, at least composed of INTS1, INTS2, INTS3, INTS4, INTS5, INTS6, INTS7, INTS8, INTS9/RC74, INTS10, INTS11/CPSF3L and INTS12.

Binary interactions

TypeEntry 1Entry 2Number of experimentsIntact
BINARY Q75QN2INTS5 Q6P9B94EBI-2340089, EBI-7600112

Protein-protein interaction databases

Miscellaneous

Family & Domains

Features

Showing features for repeat.

TypeIDPosition(s)Description
Repeat250-288TPR 1
Repeat320-356TPR 2
Repeat570-603TPR 3
Repeat833-866TPR 4

Sequence similarities

Belongs to the Integrator subunit 8 family.

Keywords

Phylogenomic databases

Family and domain databases

Sequence & Isoform

Align isoforms (2)
  • Sequence status
    Complete

This entry describes 2 isoforms produced by Alternative splicing.

Q75QN2-1

This isoform has been chosen as the canonical sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

  • Length
    995
  • Mass (Da)
    113,088
  • Last updated
    2004-07-05 v1
  • Checksum
    24D06E11821BD4D5
MSAEAADREAATSSRPCTPPQTCWFEFLLEESLLEKHLRKPCPDPAPVQLIVQFLEQASKPSVNEQNQVQPPPDNKRNRILKLLALKVAAHLKWDLDILEKSLSVPVLNMLLNELLCISKVPPGTKHVDMDLATLPPTTAMAVLLYNRWAIRTIVQSSFPVKQAKPGPPQLSVMNQMQQEKELTENILKVLKEQAADSILVLEAALKLNKDLYVHTMRTLDLLAMEPGMVNGETESSTAGLKVKTEEMQCQVCYDLGAAYFQQGSTNSAVYENAREKFFRTKELIAEIGSLSLHCTIDEKRLAGYCQACDVLVPSSDSTSQQLTPYSQVHICLRSGNYQEVIQIFIEDNLTLSLPVQFRQSVLRELFKKAQQGNEALDEICFKVCACNTVRDILEGRTISVQFNQLFLRPNKEKIDFLLEVCSRSVNLEKASESLKGNMAAFLKNVCLGLEDLQYVFMISSHELFITLLKDEERKLLVDQMRKRSPRVNLCIKPVTSFYDIPASASVNIGQLEHQLILSVDPWRIRQILIELHGMTSERQFWTVSNKWEVPSVYSGVILGIKDNLTRDLVYILMAKGLHCSTVKDFSHAKQLFAACLELVTEFSPKLRQVMLNEMLLLDIHTHEAGTGQAGERPPSDLISRVRGYLEMRLPDIPLRQVIAEECVAFMLNWRENEYLTLQVPAFLLQSNPYVKLGQLLAATCKELPGPKESRRTAKDLWEVVVQICSVSSQHKRGNDGRVSLIKQRESTLGIMYRSELLSFIKKLREPLVLTIILSLFVKLHNVREDIVNDITAEHISIWPSSIPNLQSVDFEAVAITVKELVRYTLSINPNNHSWLIIQADIYFATNQYSAALHYYLQAGAVCSDFFNKAVPPDVYTDQVIKRMIKCCSLLNCHTQVAILCQFLREIDYKTAFKSLQEQNSHDAMDSYYDYIWDVTILEYLTYLHHKRGETDKRQIAIKAIGQTELNASNPEEVLQLAAQRRKKKFLQAMAKLYF

Q75QN2-2

  • Name
    2
  • See also
    sequence in UniParc or sequence clusters in UniRef
  • Differences from canonical

Computationally mapped potential isoform sequences

There are 9 potential isoforms mapped to this entry

View all
EntryEntry nameGene nameLength
J3KNV5J3KNV5_HUMANINTS8758
H0YBQ1H0YBQ1_HUMANINTS8183
H0YBS1H0YBS1_HUMANINTS8800
H0YC12H0YC12_HUMANINTS8131
E5RIN8E5RIN8_HUMANINTS8204
E5RJF0E5RJF0_HUMANINTS8146
E5RJL5E5RJL5_HUMANINTS894
E5RG48E5RG48_HUMANINTS8291
E5RH10E5RH10_HUMANINTS8196

Sequence caution

The sequence AAH50536.1 differs from that shown. Reason: Frameshift
The sequence BAA91238.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus.
The sequence BAA91671.1 differs from that shown. Reason: Erroneous initiation Truncated N-terminus.

Features

Showing features for sequence conflict, alternative sequence.

TypeIDPosition(s)Description
Sequence conflict778in Ref. 5; BAA91238
Sequence conflict832in Ref. 4; CAD98067
Alternative sequenceVSP_021469879-895in isoform 2

Keywords

Sequence databases

Nucleotide SequenceProtein SequenceMolecule TypeStatus
AB161944
EMBL· GenBank· DDBJ
BAD10863.1
EMBL· GenBank· DDBJ
mRNA
CH471060
EMBL· GenBank· DDBJ
EAW91726.1
EMBL· GenBank· DDBJ
Genomic DNA
BC050536
EMBL· GenBank· DDBJ
AAH50536.1
EMBL· GenBank· DDBJ
mRNA Frameshift
BC064915
EMBL· GenBank· DDBJ
AAH64915.1
EMBL· GenBank· DDBJ
mRNA
BC136754
EMBL· GenBank· DDBJ
AAI36755.1
EMBL· GenBank· DDBJ
mRNA
BX538203
EMBL· GenBank· DDBJ
CAD98067.1
EMBL· GenBank· DDBJ
mRNA
AK000537
EMBL· GenBank· DDBJ
BAA91238.1
EMBL· GenBank· DDBJ
mRNA Different initiation
AK001403
EMBL· GenBank· DDBJ
BAA91671.1
EMBL· GenBank· DDBJ
mRNA Different initiation
BK005731
EMBL· GenBank· DDBJ
DAA05731.1
EMBL· GenBank· DDBJ
mRNA

Genome annotation databases

Similar Proteins

Disclaimer

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