INTS8
entrez
55656
canonical
uniprot
Q75QN2
canonical
ensembl
ENSG00000164941
resolver
ensp
ENSP00000430338
resolver
genesymbol
INTS8
resolver
genesymbol_syn
C8orf52
resolver
hgnc
HGNC:26048
resolver
uniprot
B2RN92
resolver
uniprot
Q5RKZ3
resolver
uniprot
Q6P1R5
resolver
uniprot
Q7Z314
resolver
uniprot
Q9NVS6
resolver
uniprot
Q9NWY7
resolver
uniprot_entry
INT8_HUMAN
resolver
uniprot_sec
B2RN92
resolver
uniprot_sec
Q5RKZ3
resolver
uniprot_sec
Q6P1R5
resolver
uniprot_sec
Q7Z314
resolver
uniprot_sec
Q9NVS6
resolver
uniprot_sec
Q9NWY7
resolver
amino_acid_sequence
MSAEAADREAATSSRPCTPPQTCWFEFLLEESLLEKHLRKPCPDPAPVQLIVQFLEQASKPSVNEQNQVQPPPDNKRNRILKLLALKVAAHLKWDLDILEKSLSVPVLNMLLNELLCISKVPPGTKHVDMDLATLPPTTAMAVLLYNRWAIRTIVQSSFPVKQAKPGPPQLSVMNQMQQEKELTENILKVLKEQAADSILVLEAALKLNKDLYVHTMRTLDLLAMEPGMVNGETESSTAGLKVKTEEMQCQVCYDLGAAYFQQGSTNSAVYENAREKFFRTKELIAEIGSLSLHCTIDEKRLAGYCQACDVLVPSSDSTSQQLTPYSQVHICLRSGNYQEVIQIFIEDNLTLSLPVQFRQSVLRELFKKAQQGNEALDEICFKVCACNTVRDILEGRTISVQFNQLFLRPNKEKIDFLLEVCSRSVNLEKASESLKGNMAAFLKNVCLGLEDLQYVFMISSHELFITLLKDEERKLLVDQMRKRSPRVNLCIKPVTSFYDIPASASVNIGQLEHQLILSVDPWRIRQILIELHGMTSERQFWTVSNKWEVPSVYSGVILGIKDNLTRDLVYILMAKGLHCSTVKDFSHAKQLFAACLELVTEFSPKLRQVMLNEMLLLDIHTHEAGTGQAGERPPSDLISRVRGYLEMRLPDIPLRQVIAEECVAFMLNWRENEYLTLQVPAFLLQSNPYVKLGQLLAATCKELPGPKESRRTAKDLWEVVVQICSVSSQHKRGNDGRVSLIKQRESTLGIMYRSELLSFIKKLREPLVLTIILSLFVKLHNVREDIVNDITAEHISIWPSSIPNLQSVDFEAVAITVKELVRYTLSINPNNHSWLIIQADIYFATNQYSAALHYYLQAGAVCSDFFNKAVPPDVYTDQVIKRMIKCCSLLNCHTQVAILCQFLREIDYKTAFKSLQEQNSHDAMDSYYDYIWDVTILEYLTYLHHKRGETDKRQIAIKAIGQTELNASNPEEVLQLAAQRRKKKFLQAMAKLYF
uniprot
proteins
disease_involvement
DISEASE: Neurodevelopmental disorder with cerebellar hypoplasia and spasticity (NEDCHS) [MIM:618572]: 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. {ECO:0000269|PubMed:28542170}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the integrator complex, a multiprotein complex that terminates RNA polymerase II (Pol II) transcription in the promoter-proximal region of genes (PubMed:28542170, PubMed:33243860, PubMed:34004147, PubMed:37080207, PubMed:38570683). The integrator complex provides a quality checkpoint during transcription elongation by driving premature transcription termination of transcripts that are unfavorably configured for transcriptional elongation: the complex terminates transcription by (1) catalyzing dephosphorylation of the C-terminal domain (CTD) of Pol II subunit POLR2A/RPB1 and SUPT5H/SPT5, (2) degrading the exiting nascent RNA transcript via endonuclease activity and (3) promoting the release of Pol II from bound DNA (PubMed:33243860, PubMed:34004147, PubMed:38570683). The integrator complex is also involved in terminating the synthesis of non-coding Pol II transcripts, such as enhancer RNAs (eRNAs), small nuclear RNAs (snRNAs), telomerase RNAs and long non-coding RNAs (lncRNAs) (PubMed:16239144). Within the integrator complex, INTS8 is required for the recruitment of protein phosphatase 2A (PP2A) to transcription pause-release checkpoint (PubMed:32966759, PubMed:33243860, PubMed:34004147, PubMed:37080207). {ECO:0000269|PubMed:16239144, ECO:0000269|PubMed:28542170, ECO:0000269|PubMed:32966759, ECO:0000269|PubMed:33243860, ECO:0000269|PubMed:34004147, ECO:0000269|PubMed:37080207, ECO:0000269|PubMed:38570683}.
uniprot
proteins
mass_dalton
113088
uniprot
proteins
mutagenesis
MUTAGEN 24..27; /note="WFEF->AAAA: Abolished recruitment of protein phosphatase 2A subunits."; /evidence="ECO:0000269|PubMed:32966759
uniprot
proteins
protein_family
Integrator subunit 8 family
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16239144
uniprot
proteins
pubmed
17081983
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
28542170
uniprot
proteins
pubmed
32966759
uniprot
proteins
pubmed
33243860
uniprot
proteins
pubmed
34004147
uniprot
proteins
pubmed
34762484
uniprot
proteins
pubmed
36869814
uniprot
proteins
pubmed
37080207
uniprot
proteins
pubmed
38570683
uniprot
proteins
pubmed
38823386
uniprot
proteins
pubmed
39032490
uniprot
proteins
sequence_length
995
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:34004147, ECO:0000269|PubMed:39032490}. Chromosome {ECO:0000269|PubMed:34004147}. Note=Associates with chromatin and transcription pause-release checkpoint. {ECO:0000269|PubMed:34004147}.
uniprot
proteins