Reactome | UniProt:Q8N201 INTS1

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UniProt:Q8N201 INTS1 Show undefined attributes

chain	chain:1-2190
checksum	342FF560BF3F61F6
comment	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:25201415, PubMed:33243860, 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). 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, PubMed:26308897, PubMed:30737432). Within the integrator complex, INTS1 is involved in the post-termination step: INTS1 displaces INTS3 and the SOSS factors, allowing the integrator complex to return to the closed conformation, ready to bind to the paused elongation complex for another termination cycle (PubMed:38570683). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the integrator complex (PubMed:23904267).SUBUNIT Component of the Integrator complex, composed of core subunits INTS1, INTS2, INTS3, INTS4, INTS5, INTS6, INTS7, INTS8, INTS9/RC74, INTS10, INTS11/CPSF3L, INTS12, INTS13, INTS14 and INTS15 (PubMed:16239144, PubMed:25201415, PubMed:29471365, PubMed:33243860, PubMed:34762484, PubMed:38570683, PubMed:39032490). The core complex associates with protein phosphatase 2A subunits PPP2CA and PPP2R1A, to form the Integrator-PP2A (INTAC) complex (PubMed:33243860, PubMed:34762484, PubMed:36869814, PubMed:38570683). Interacts with ESRRB, ESRRB is not a core component of the Integrator complex and this association is a bridge for the interaction with the multiprotein complex Integrator; attracts the transcriptional machinery (By similarity).INTERACTION The disease is caused by variants affecting the gene represented in this entry.SIMILARITY Belongs to the Integrator subunit 1 family.SEQUENCE CAUTION Truncated N-terminus.
created	[InstanceEdit:217385] Schmidt, EE, 2008-03-27 06:23:53
crossReference	[DatabaseIdentifier:12430417] RefSeq:NP_001073922.2 [DatabaseIdentifier:12430416] RefSeq:XP_054213832.1 [DatabaseIdentifier:12291421] Pharos - Targets:Q8N201 [DatabaseIdentifier:12253399] PRO:Q8N201 [DatabaseIdentifier:12139957] PDB:7YCX [DatabaseIdentifier:12139960] PDB:7PKS [DatabaseIdentifier:12140097] PDB:7CUN [DatabaseIdentifier:12139952] PDB:9VD9 [DatabaseIdentifier:12140094] PDB:8YJB [DatabaseIdentifier:12140093] PDB:8RC4 [DatabaseIdentifier:12139953] PDB:8RBX [DatabaseIdentifier:12140096] PDB:8RBZ [DatabaseIdentifier:12131227] OpenTargets:ENSG00000164880 [DatabaseIdentifier:11846567] HPA:ENSG00000164880-INTS1 [DatabaseIdentifier:11793578] GeneCards:INTS1 [DatabaseIdentifier:11734003] ENSEMBL:ENST00000404767 [DatabaseIdentifier:11611304] ENSEMBL:ENSP00000385722 [DatabaseIdentifier:11500959] ENSEMBL:ENSG00000164880
databaseName	UniProt
dbId	232876
description	recommendedName: fullName evidence="21"Integrator complex subunit 1 shortName: Int1
displayName	UniProt:Q8N201 INTS1
geneName	INTS1 KIAA1440 UNQ1821/PRO3434
identifier	Q8N201
isSequenceChanged	false
keyword	3D-structure Acetylation Disease variant Intellectual disability Membrane Nucleus Phosphoprotein Proteomics identification Reference proteome Transmembrane Transmembrane helix
modified	[InstanceEdit:9948485] Weiser, Joel, 2025-05-21
moleculeType	Protein
name	INTS1
otherIdentifier	11719236_a_at 11719237_at 17054377 212210_PM_at 212210_at 212212_PM_s_at 212212_s_at 26173 3035282 3035283 3035284 3035285 3035286 3035287 3035288 3035289 3035290 3035291 3035292 3035294 3035295 3035296 3035297 3035298 3035299 3035300 3035301 3035302 3035303 3035304 3035305 3035306 3035307 3035308 3035309 3035310 3035311 3035312 3035313 3035314 3035315 3035316 3035317 3035318 3035319 3035320 3035321 3035322 3035323 3035324 3035325 3035326 3035327 3035329 3035330 3035331 3035333 3035334 3035335 3035336 3035338 3035339 3035340 3035341 3035342 3035343 3035344 3035345 3035346 3035348 3035349 3035350 3035351 3035352 3035353 3035354 3035355 3035356 3035357 3035358 3035359 3035360 3035361 3035362 39022_at 61687_at 67500_at 8137739 A_24_P66672 A_33_P3316045 A_33_P3341154 GE53974 GE567435 GE788626 GO:0001832 GO:0001833 GO:0005515 GO:0005634 GO:0005654 GO:0006355 GO:0007566 GO:0016020 GO:0016073 GO:0016180 GO:0022414 GO:0031965 GO:0032039 GO:0034243 GO:0034474 GO:0043066 GO:0160232 GO:0160240 HMNXSV003048326 Hs.112184.0.S1_3p_at Hs.112184.0.S1_3p_x_at Hs.112184.0.S2_3p_a_at ILMN_1793854 ILMN_2317463 PH_hs_0027769 TC07001084.hg
physicalEntity	[EntityWithAccessionedSequence:R-HSA-6807446] INTS1 [nucleoplasm] - Homo sapiens
referenceDatabase	[ReferenceDatabase:2] UniProt
referenceGene	[ReferenceDNASequence:12703218] UCSC:Q8N201 INTS1 [ReferenceDNASequence:12115706] OMIM:611345 INTS1 [ReferenceDNASequence:12080162] NCBI Gene:26173 INTS1 [ReferenceDNASequence:11996069] Monarch:26173 INTS1 [ReferenceDNASequence:11904710] KEGG:hsa:26173 INTS1 [ReferenceDNASequence:11825271] HGNC:24555 INTS1 [ReferenceDNASequence:11430768] dbSNP Gene:26173 INTS1 [ReferenceDNASequence:11422077] CTD Gene:26173 INTS1 [ReferenceDNASequence:11394672] COSMIC - genes:INTS1 INTS1 [ReferenceDNASequence:11366280] BioGPS Gene:26173 INTS1 [ReferenceDNASequence:ensembl:ENSG00000164880] ENSEMBL:ENSG00000164880 INTS1
referenceTranscript	[ReferenceRNASequence:12611932] RefSeq:XM_054357857.1 INTS1 [ReferenceRNASequence:12611933] RefSeq:NM_001080453.3 INTS1
schemaClass	ReferenceGeneProduct
secondaryIdentifier	INT1_HUMAN A6NJ44 Q6NT70 Q6UX74 Q8WV40 Q96D36 Q9NTD1 Q9P2A8 Q9Y3W8
sequenceLength	2190
species	[Species:48887] Homo sapiens
stId	uniprot:Q8N201
url	http://purl.uniprot.org/uniprot/Q8N201

Referrals

(interactor)	[UndirectedInteraction:11292467] UniProt:P35414 <-> UniProt:Q8N201 (IntAct) [UndirectedInteraction:11236767] UniProt:P67775 <-> UniProt:Q8N201 (IntAct) [UndirectedInteraction:11225611] UniProt:P03372 <-> UniProt:Q8N201 (IntAct) [UndirectedInteraction:11212143] UniProt:Q13304 <-> UniProt:Q8N201 (IntAct) [UndirectedInteraction:11174997] UniProt:P21462 <-> UniProt:Q8N201 (IntAct)
(referenceEntity)	[EntityWithAccessionedSequence:R-HSA-6807446] INTS1 [nucleoplasm]

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