ID  Q8N201;
PN  Integrator complex subunit 1;
GN  INTS1;
OS  9606;
SL  Nucleus Position: SL-0178;
SL  Nucleus Position: SL-0182;
SL  Comments: Nucleus membrane {ECO:0000305}; Single-pass membrane protein {ECO:0000305}.
DR  UNIPROT: Q8N201;
DR  UNIPROT: A6NJ44;
DR  UNIPROT: Q6NT70;
DR  UNIPROT: Q6UX74;
DR  UNIPROT: Q8WV40;
DR  UNIPROT: Q96D36;
DR  UNIPROT: Q9NTD1;
DR  UNIPROT: Q9P2A8;
DR  UNIPROT: Q9Y3W8;
DR  PDB: 7CUN;
DR  PDB: 7PKS;
DR  Pfam: PF12432;
DR  OMIM: 611345;
DR  OMIM: 618571;
DR  DisGeNET: 26173;
DE  Function: Component of the Integrator (INT) 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 (Probable). Mediates recruitment of cytoplasmic dynein to the nuclear envelope, probably as component of the INT complex (PubMed:23904267). {ECO:0000269|PubMed:23904267, ECO:0000305|PubMed:16239144}.
DE  Disease: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies (NDCAGF) [MIM:618571]: An autosomal recessive neurodevelopmental disorder characterized by severe global developmental delay with motor impairment, cognitive delays, absent or severely limited speech, dysmorphic features, hypotonia and cataracts. {ECO:0000269|PubMed:28542170, ECO:0000269|PubMed:30622326, ECO:0000269|PubMed:31428919}. Note=The disease is caused by variants affecting the gene represented in this entry.
DE  Reference Proteome: Yes;
DE  Interaction: P0DTC7; IntAct: EBI-25687011; Score: 0.35
DE  Interaction: Q86WV6; IntAct: EBI-20201138; Score: 0.35
DE  Interaction: O75398; IntAct: EBI-736610; Score: 0.00
DE  Interaction: P03372; IntAct: EBI-2878124; Score: 0.53
DE  Interaction: Q13573; IntAct: EBI-7950968; Score: 0.35
DE  Interaction: Q99459; IntAct: EBI-7954144; Score: 0.35
DE  Interaction: P83916; IntAct: EBI-4407371; Score: 0.35
DE  Interaction: Q76MZ3; IntAct: EBI-10991736; Score: 0.35
DE  Interaction: Q96BD8; IntAct: EBI-11000226; Score: 0.35
DE  Interaction: P30153; IntAct: EBI-11055988; Score: 0.57
DE  Interaction: P49286; IntAct: EBI-11578409; Score: 0.00
DE  Interaction: C5E526; IntAct: EBI-12585110; Score: 0.35
DE  Interaction: B4URF7; IntAct: EBI-12589250; Score: 0.35
DE  Interaction: P67775; IntAct: EBI-14026281; Score: 0.35
DE  Interaction: O43493; IntAct: EBI-21537775; Score: 0.35
DE  Interaction: P35414; IntAct: EBI-21559824; Score: 0.35
DE  Interaction: P49146; IntAct: EBI-21569349; Score: 0.35
DE  Interaction: O75251; IntAct: EBI-21611249; Score: 0.35
DE  Interaction: P35372; IntAct: EBI-21672468; Score: 0.35
DE  Interaction: P51648; IntAct: EBI-21787778; Score: 0.35
DE  Interaction: A1L0T0; IntAct: EBI-21879063; Score: 0.35
DE  Interaction: Q96CB8; IntAct: EBI-21895368; Score: 0.40
DE  Interaction: P19387; IntAct: EBI-15710289; Score: 0.35
DE  Interaction: P68431; IntAct: EBI-16793336; Score: 0.27
DE  Interaction: P59635; IntAct: EBI-25688593; Score: 0.35
DE  Interaction: P48431; IntAct: EBI-26574478; Score: 0.35
DE  Interaction: Q9NVR2; IntAct: EBI-26618296; Score: 0.40
DE  Interaction: Q9NVM9; IntAct: EBI-26618901; Score: 0.35
DE  Interaction: Q8N488; IntAct: EBI-27110926; Score: 0.35
GO  GO:0016021;
GO  GO:0032039;
GO  GO:0016020;
GO  GO:0031965;
GO  GO:0005654;
GO  GO:0005634;
GO  GO:0001833;
GO  GO:0043154;
GO  GO:0034243;
GO  GO:0016180;
GO  GO:0034474;
TP  Membrane Topology: Transmembrane; Source: UniProt - Sequence Analysis {ECO:0000255};
SQ  MNRAKPTTVRRPSAAAKPSGHPPPGDFIALGSKGQANESKTASTLLKPAPSGLPSERKRDAAAALSSASALTGLTKRPKL
SQ  SSTPPLSALGRLAEAAVAEKRAISPSIKEPSVVPIEVLPTVLLDEIEAAELEGNDDRIEGVLCGAVKQLKVTRAKPDSTL
SQ  YLSLMYLAKIKPNIFATEGVIEALCSLLRRDASINFKAKGNSLVSVLACNLLMAAYEEDENWPEIFVKVYIEDSLGERIW
SQ  VDSPHCKTFVDNIQTAFNTRMPPRSVLLQGEAGRVAGDLGAGSSPHPSLTEEEDSQTELLIAEEKLSPEQEGQLMPRYEE
SQ  LAESVEEYVLDMLRDQLNRRQPIDNVSRNLLRLLTSTCGYKEVRLLAVQKLEMWLQNPKLTRPAQDLLMSVCMNCNTHGS
SQ  EDMDVISHLIKIRLKPKVLLNHFMLCIRELLSAHKDNLGTTIKLVIFNELSSARNPNNMQVLYTALQHSSELAPKFLAMV
SQ  FQDLLTNKDDYLRASRALLREIIKQTKHEINFQAFCLGLMQERKEPQYLEMEFKERFVVHITDVLAVSMMLGITAQVKEA
SQ  GIAWDKGEKRNLEVLRSFQNQIAAIQRDAVWWLHTVVPSISKLAPKDYVHCLHKVLFTEQPETYYKWDNWPPESDRNFFL
SQ  RLCSEVPILEDTLMRILVIGLSRELPLGPADAMELADHLVKRAAAVQADDVEVLKVGRTQLIDAVLNLCTYHHPENIQLP
SQ  PGYQPPNLAISTLYWKAWPLLLVVAAFNPENIGLAAWEEYPTLKMLMEMVMTNNYSYPPCTLTDEETRTEMLNRELQTAQ
SQ  REKQEILAFEGHLAAASTKQTITESSSLLLSQLTSLDPQGPPRRPPPHILDQVKSLNQSLRLGHLLCRSRNPDFLLHIIQ
SQ  RQASSQSMPWLADLVQSSEGSLDVLPVQCLCEFLLHDAVDDAASGEEDDEGESKEQKAKKRQRQQKQRQLLGRLQDLLLG
SQ  PKADEQTTCEVLDYFLRRLGSSQVASRVLAMKGLSLVLSEGSLRDGEEKEPPMEEDVGDTDVLQGYQWLLRDLPRLPLFD
SQ  SVRSTTALALQQAIHMETDPQTISAYLIYLSQHTPVEEQAQHSDLALDVARLVVERSTIMSHLFSKLSPSAASDAVLSAL
SQ  LSIFSRYVRRMRQSKEGEEVYSWSESQDQVFLRWSSGETATMHILVVHAMVILLTLGPPRADDSEFQALLDIWFPEEKPL
SQ  PTAFLVDTSEEALLLPDWLKLRMIRSEVLRLVDAALQDLEPQQLLLFVQSFGIPVSSMSKLLQFLDQAVAHDPQTLEQNI
SQ  MDKNYMAHLVEVQHERGASGGQTFHSLLTASLPPRRDSTEAPKPKSSPEQPIGQGRIRVGTQLRVLGPEDDLAGMFLQIF
SQ  PLSPDPRWQSSSPRPVALALQQALGQELARVVQGSPEVPGITVRVLQALATLLSSPHGGALVMSMHRSHFLACPLLRQLC
SQ  QYQRCVPQDTGFSSLFLKVLLQMLQWLDSPGVEGGPLRAQLRMLASQASAGRRLSDVRGGLLRLAEALAFRQDLEVVSST
SQ  VRAVIATLRSGEQCSVEPDLISKVLQGLIEVRSPHLEELLTAFFSATADAASPFPACKPVVVVSSLLLQEEEPLAGGKPG
SQ  ADGGSLEAVRLGPSSGLLVDWLEMLDPEVVSSCPDLQLRLLFSRRKGKGQAQVPSFRPYLLTLFTHQSSWPTLHQCIRVL
SQ  LGKSREQRFDPSASLDFLWACIHVPRIWQGRDQRTPQKRREELVLRVQGPELISLVELILAEAETRSQDGDTAACSLIQA
SQ  RLPLLLSCCCGDDESVRKVTEHLSGCIQQWGDSVLGRRCRDLLLQLYLQRPELRVPVPEVLLHSEGAASSSVCKLDGLIH
SQ  RFITLLADTSDSRALENRGADASMACRKLAVAHPLLLLRHLPMIAALLHGRTHLNFQEFRQQNHLSCFLHVLGLLELLQP
SQ  HVFRSEHQGALWDCLLSFIRLLLNYRKSSRHLAAFINKFVQFIHKYITYNAPAAISFLQKHADPLHDLSFDNSDLVMLKS
SQ  LLAGLSLPSRDDRTDRGLDEEGEEESSAGSLPLVSVSLFTPLTAAEMAPYMKRLSRGQTVEDLLEVLSDIDEMSRRRPEI
SQ  LSFFSTNLQRLMSSAEECCRNLAFSLALRSMQNSPSIAAAFLPTFMYCLGSQDFEVVQTALRNLPEYALLCQEHAAVLLH
SQ  RAFLVGMYGQMDPSAQISEALRILHMEAVM
//