INT6L_HUMAN
ID INT6L_HUMAN Reviewed; 861 AA.
AC Q5JSJ4; Q5CZA2; Q6IPS3; Q6ZTU5; Q6ZWE4;
DT 10-JAN-2006, integrated into UniProtKB/Swiss-Prot.
DT 15-FEB-2005, sequence version 1.
DT 03-AUG-2022, entry version 132.
DE RecName: Full=Integrator complex subunit 6-like;
DE AltName: Full=Protein DDX26B;
GN Name=INTS6L; Synonyms=DDX26B;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Brain cortex;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Endometrial tumor;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-617, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [6]
RP VARIANT VAL-769.
RX PubMed=23033978; DOI=10.1056/nejmoa1206524;
RA de Ligt J., Willemsen M.H., van Bon B.W., Kleefstra T., Yntema H.G.,
RA Kroes T., Vulto-van Silfhout A.T., Koolen D.A., de Vries P., Gilissen C.,
RA del Rosario M., Hoischen A., Scheffer H., de Vries B.B., Brunner H.G.,
RA Veltman J.A., Vissers L.E.;
RT "Diagnostic exome sequencing in persons with severe intellectual
RT disability.";
RL N. Engl. J. Med. 367:1921-1929(2012).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1;
CC IsoId=Q5JSJ4-1; Sequence=Displayed;
CC Name=3;
CC IsoId=Q5JSJ4-4; Sequence=VSP_016867;
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; AK123209; BAC85559.1; -; mRNA.
DR EMBL; CR936620; CAI56763.1; -; Transcribed_RNA.
DR EMBL; AL357834; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL391380; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR CCDS; CCDS35401.1; -. [Q5JSJ4-1]
DR RefSeq; NP_872346.3; NM_182540.4. [Q5JSJ4-1]
DR AlphaFoldDB; Q5JSJ4; -.
DR SMR; Q5JSJ4; -.
DR BioGRID; 128475; 12.
DR IntAct; Q5JSJ4; 4.
DR STRING; 9606.ENSP00000359788; -.
DR iPTMnet; Q5JSJ4; -.
DR PhosphoSitePlus; Q5JSJ4; -.
DR BioMuta; INTS6L; -.
DR DMDM; 74742010; -.
DR EPD; Q5JSJ4; -.
DR jPOST; Q5JSJ4; -.
DR MassIVE; Q5JSJ4; -.
DR MaxQB; Q5JSJ4; -.
DR PaxDb; Q5JSJ4; -.
DR PeptideAtlas; Q5JSJ4; -.
DR PRIDE; Q5JSJ4; -.
DR ProteomicsDB; 63154; -. [Q5JSJ4-1]
DR ProteomicsDB; 63155; -. [Q5JSJ4-4]
DR Antibodypedia; 538; 38 antibodies from 15 providers.
DR DNASU; 203522; -.
DR Ensembl; ENST00000370752.4; ENSP00000359788.4; ENSG00000165359.16. [Q5JSJ4-1]
DR GeneID; 203522; -.
DR KEGG; hsa:203522; -.
DR UCSC; uc004eyw.5; human. [Q5JSJ4-1]
DR CTD; 203522; -.
DR GeneCards; INTS6L; -.
DR HGNC; HGNC:27334; INTS6L.
DR HPA; ENSG00000165359; Low tissue specificity.
DR neXtProt; NX_Q5JSJ4; -.
DR OpenTargets; ENSG00000165359; -.
DR PharmGKB; PA134921149; -.
DR VEuPathDB; HostDB:ENSG00000165359; -.
DR eggNOG; KOG3768; Eukaryota.
DR GeneTree; ENSGT00390000016655; -.
DR HOGENOM; CLU_006789_0_0_1; -.
DR InParanoid; Q5JSJ4; -.
DR OrthoDB; 551849at2759; -.
DR PhylomeDB; Q5JSJ4; -.
DR TreeFam; TF323386; -.
DR PathwayCommons; Q5JSJ4; -.
DR SignaLink; Q5JSJ4; -.
DR BioGRID-ORCS; 203522; 13 hits in 692 CRISPR screens.
DR ChiTaRS; INTS6L; human.
DR GenomeRNAi; 203522; -.
DR Pharos; Q5JSJ4; Tdark.
DR PRO; PR:Q5JSJ4; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q5JSJ4; protein.
DR Bgee; ENSG00000165359; Expressed in cerebellar hemisphere and 144 other tissues.
DR ExpressionAtlas; Q5JSJ4; baseline and differential.
DR Genevisible; Q5JSJ4; HS.
DR GO; GO:0032039; C:integrator complex; IBA:GO_Central.
DR GO; GO:0034472; P:snRNA 3'-end processing; IBA:GO_Central.
DR Gene3D; 3.40.50.410; -; 1.
DR InterPro; IPR029307; INT_SG_DDX_CT_C.
DR InterPro; IPR002035; VWF_A.
DR InterPro; IPR036465; vWFA_dom_sf.
DR Pfam; PF15300; INT_SG_DDX_CT_C; 1.
DR Pfam; PF13519; VWA_2; 1.
DR SUPFAM; SSF53300; SSF53300; 1.
DR PROSITE; PS50234; VWFA; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Phosphoprotein; Reference proteome.
FT CHAIN 1..861
FT /note="Integrator complex subunit 6-like"
FT /id="PRO_0000076215"
FT DOMAIN 3..227
FT /note="VWFA"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00219"
FT REGION 605..626
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 617
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT VAR_SEQ 1..553
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_016867"
FT VARIANT 769
FT /note="I -> V"
FT /evidence="ECO:0000269|PubMed:23033978"
FT /id="VAR_069425"
FT CONFLICT 52
FT /note="L -> P (in Ref. 2; CAI56763)"
FT /evidence="ECO:0000305"
FT CONFLICT 428
FT /note="Missing (in Ref. 2; CAI56763)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 861 AA; 96673 MW; 46CE8A7FB8A377C5 CRC64;
MPILLFLIDT SASMNQRTDL GTSYLDIAKG AVELFLKLRA RDPASRGDRY MLVTYDEPPY
CIKAGWKENH ATFMSELKNL QASGLTTLGQ ALRSSFDLLN LNRLISGIDN YGQGRNPFFL
EPSILITITD GNKLTSTAGV QEELHLPLNS PLPGSELTKE PFRWDQRLFA LVLRLPGVAS
TEPEQLGSVP TDESAITQMC EVTGGRSYCV RTQRMLNQCL ESLVQKVQSG VVINFEKTGP
DPLPIGEDGL MDSSRPSNSF AAQPWHSCHK LIYVRPNSKT GVPVGHWPIP ESFWPDQNLP
SLPPRTSHPV VRFSCVDCEP MVIDKLPFDK YELEPSPLTQ YILERKSPHT CWQVFVTSSG
KYNELGYPFG YLKASTTLTC VNLFVMPYNY PVLLPLLDDL FKVHKLKPNL KWRQAFDSYL
KTLPPYYLLT KLESERILAS VGKKPPQEIG IKVKNHSGGG MSLTHNKNFR KLLKEITGET
ALRLTELNTK EFAGFQIGLL NKDLKPQTYR NAYDIPRRGL LDQLTRMRSN LLKTHKFIVG
QDEDSLHSVP VAQMGNYQEY LKTLASPLRE IDPDQPKRLH TFGNPFKQDK KGMMIDEADE
FVAGPQNKVK RPGEPNSPMS SKRRRSMSLL LRKPQTPPTV TNHVGGKGPP SASWFPSYPN
LIKPTLVHTD ATIIHDGHEE KMENGQITPD GFLSKSAPSE LINMTGDLMP PNQVDSLSDD
FTSLSKDGLI QKPGSNAFVG GAKNCSLSVD DQKDPVASTL GAMPNTLQIT PAMAQGINAD
IKHQLMKEVR KFGRKYERIF ILLEEVQGPL EMKKQFVEFT IKEAARFKRR VLIQYLEKVL
EKINSHHLHN NISHINSRSS C
