INT14_HUMAN
ID INT14_HUMAN Reviewed; 518 AA.
AC Q96SY0; B4DDI6; B4DVD5; Q49AH8; Q96HX5; Q9H0S5;
DT 24-JUL-2007, integrated into UniProtKB/Swiss-Prot.
DT 24-JUL-2007, sequence version 2.
DT 03-AUG-2022, entry version 141.
DE RecName: Full=Integrator complex subunit 14 {ECO:0000312|HGNC:HGNC:25372};
DE AltName: Full=von Willebrand factor A domain-containing protein 9;
GN Name=INTS14 {ECO:0000312|HGNC:HGNC:25372};
GN Synonyms=C15orf44 {ECO:0000312|HGNC:HGNC:25372},
GN VWA9 {ECO:0000312|HGNC:HGNC:25372};
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 1).
RC TISSUE=Brain;
RX PubMed=11230166; DOI=10.1101/gr.gr1547r;
RA Wiemann S., Weil B., Wellenreuther R., Gassenhuber J., Glassl S.,
RA Ansorge W., Boecher M., Bloecker H., Bauersachs S., Blum H., Lauber J.,
RA Duesterhoeft A., Beyer A., Koehrer K., Strack N., Mewes H.-W.,
RA Ottenwaelder B., Obermaier B., Tampe J., Heubner D., Wambutt R., Korn B.,
RA Klein M., Poustka A.;
RT "Towards a catalog of human genes and proteins: sequencing and analysis of
RT 500 novel complete protein coding human cDNAs.";
RL Genome Res. 11:422-435(2001).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1; 3 AND 4).
RC TISSUE=Adrenal gland;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16572171; DOI=10.1038/nature04601;
RA Zody M.C., Garber M., Sharpe T., Young S.K., Rowen L., O'Neill K.,
RA Whittaker C.A., Kamal M., Chang J.L., Cuomo C.A., Dewar K.,
RA FitzGerald M.G., Kodira C.D., Madan A., Qin S., Yang X., Abbasi N.,
RA Abouelleil A., Arachchi H.M., Baradarani L., Birditt B., Bloom S.,
RA Bloom T., Borowsky M.L., Burke J., Butler J., Cook A., DeArellano K.,
RA DeCaprio D., Dorris L. III, Dors M., Eichler E.E., Engels R., Fahey J.,
RA Fleetwood P., Friedman C., Gearin G., Hall J.L., Hensley G., Johnson E.,
RA Jones C., Kamat A., Kaur A., Locke D.P., Madan A., Munson G., Jaffe D.B.,
RA Lui A., Macdonald P., Mauceli E., Naylor J.W., Nesbitt R., Nicol R.,
RA O'Leary S.B., Ratcliffe A., Rounsley S., She X., Sneddon K.M.B.,
RA Stewart S., Sougnez C., Stone S.M., Topham K., Vincent D., Wang S.,
RA Zimmer A.R., Birren B.W., Hood L., Lander E.S., Nusbaum C.;
RT "Analysis of the DNA sequence and duplication history of human chromosome
RT 15.";
RL Nature 440:671-675(2006).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC TISSUE=Brain, and Placenta;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP TISSUE SPECIFICITY.
RX PubMed=19160420; DOI=10.1002/jcb.22063;
RA Jung H.M., Choi S.J., Kim J.K.;
RT "Expression profiles of SV40-immortalization-associated genes upregulated
RT in various human cancers.";
RL J. Cell. Biochem. 106:703-713(2009).
RN [6]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-418, AND IDENTIFICATION BY MASS
RP SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- FUNCTION: Probable component of the Integrator (INT) complex, a complex
CC involved in the small nuclear RNAs (snRNA) U1 and U2 transcription and
CC in their 3'-box-dependent processing. {ECO:0000250|UniProtKB:Q9VPY0}.
CC -!- INTERACTION:
CC Q96SY0; Q9NVR2: INTS10; NbExp=12; IntAct=EBI-4409724, EBI-536703;
CC Q96SY0; Q9NVM9: INTS13; NbExp=16; IntAct=EBI-4409724, EBI-741429;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q9VPY0}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q96SY0-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96SY0-2; Sequence=VSP_027180, VSP_027181;
CC Name=4;
CC IsoId=Q96SY0-4; Sequence=VSP_044250;
CC Name=3;
CC IsoId=Q96SY0-3; Sequence=VSP_043277;
CC -!- TISSUE SPECIFICITY: Strongly expressed in numerous cancer cells
CC compared with their non-cancerous counterparts (lung, prostate, colon,
CC stomach and skin). {ECO:0000269|PubMed:19160420}.
CC -!- SIMILARITY: Belongs to the INTS14 family. {ECO:0000305}.
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DR EMBL; AL136662; CAB66597.1; -; mRNA.
DR EMBL; AK301033; BAG62647.1; -; mRNA.
DR EMBL; AK027475; BAB55140.1; -; mRNA.
DR EMBL; AK293207; BAG56747.1; -; mRNA.
DR EMBL; AC027220; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC037823; AAH37823.1; -; mRNA.
DR EMBL; BC007991; AAH07991.1; -; mRNA.
DR CCDS; CCDS45283.1; -. [Q96SY0-4]
DR CCDS; CCDS55969.1; -. [Q96SY0-4]
DR RefSeq; NP_001129515.1; NM_001136043.2. [Q96SY0-4]
DR RefSeq; NP_001193987.1; NM_001207058.1.
DR RefSeq; NP_001193988.1; NM_001207059.1. [Q96SY0-4]
DR RefSeq; XP_006720772.1; XM_006720709.3.
DR RefSeq; XP_006720774.1; XM_006720711.2. [Q96SY0-4]
DR RefSeq; XP_011520403.1; XM_011522101.2. [Q96SY0-4]
DR RefSeq; XP_016878133.1; XM_017022644.1.
DR PDB; 6SN1; X-ray; 2.54 A; B=1-518.
DR PDBsum; 6SN1; -.
DR AlphaFoldDB; Q96SY0; -.
DR SMR; Q96SY0; -.
DR BioGRID; 123520; 87.
DR ComplexPortal; CPX-6441; Integrator complex.
DR IntAct; Q96SY0; 43.
DR MINT; Q96SY0; -.
DR STRING; 9606.ENSP00000408429; -.
DR GlyGen; Q96SY0; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q96SY0; -.
DR PhosphoSitePlus; Q96SY0; -.
DR BioMuta; INTS14; -.
DR DMDM; 156631025; -.
DR EPD; Q96SY0; -.
DR jPOST; Q96SY0; -.
DR MassIVE; Q96SY0; -.
DR MaxQB; Q96SY0; -.
DR PaxDb; Q96SY0; -.
DR PeptideAtlas; Q96SY0; -.
DR PRIDE; Q96SY0; -.
DR ProteomicsDB; 5260; -.
DR ProteomicsDB; 78159; -. [Q96SY0-1]
DR ProteomicsDB; 78160; -. [Q96SY0-2]
DR ProteomicsDB; 78161; -. [Q96SY0-3]
DR Antibodypedia; 52220; 94 antibodies from 17 providers.
DR DNASU; 81556; -.
DR Ensembl; ENST00000313182.7; ENSP00000326379.2; ENSG00000138614.16. [Q96SY0-1]
DR Ensembl; ENST00000420799.7; ENSP00000408429.3; ENSG00000138614.16. [Q96SY0-4]
DR Ensembl; ENST00000431261.6; ENSP00000402898.2; ENSG00000138614.16. [Q96SY0-4]
DR Ensembl; ENST00000652388.1; ENSP00000498715.1; ENSG00000138614.16. [Q96SY0-3]
DR GeneID; 81556; -.
DR KEGG; hsa:81556; -.
DR MANE-Select; ENST00000313182.7; ENSP00000326379.2; NM_001394796.1; NP_001381725.1.
DR UCSC; uc002ape.5; human. [Q96SY0-1]
DR CTD; 81556; -.
DR DisGeNET; 81556; -.
DR GeneCards; INTS14; -.
DR HGNC; HGNC:25372; INTS14.
DR HPA; ENSG00000138614; Low tissue specificity.
DR neXtProt; NX_Q96SY0; -.
DR OpenTargets; ENSG00000138614; -.
DR PharmGKB; PA142672279; -.
DR VEuPathDB; HostDB:ENSG00000138614; -.
DR eggNOG; ENOG502QQ37; Eukaryota.
DR GeneTree; ENSGT00390000009486; -.
DR InParanoid; Q96SY0; -.
DR OrthoDB; 1453503at2759; -.
DR PhylomeDB; Q96SY0; -.
DR TreeFam; TF323245; -.
DR PathwayCommons; Q96SY0; -.
DR Reactome; R-HSA-6807505; RNA polymerase II transcribes snRNA genes.
DR SignaLink; Q96SY0; -.
DR SIGNOR; Q96SY0; -.
DR BioGRID-ORCS; 81556; 365 hits in 1080 CRISPR screens.
DR ChiTaRS; VWA9; human.
DR GenomeRNAi; 81556; -.
DR Pharos; Q96SY0; Tdark.
DR PRO; PR:Q96SY0; -.
DR Proteomes; UP000005640; Chromosome 15.
DR RNAct; Q96SY0; protein.
DR Bgee; ENSG00000138614; Expressed in rectum and 145 other tissues.
DR ExpressionAtlas; Q96SY0; baseline and differential.
DR Genevisible; Q96SY0; HS.
DR GO; GO:0032039; C:integrator complex; IC:ComplexPortal.
DR GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR GO; GO:0005634; C:nucleus; IC:ComplexPortal.
DR GO; GO:0034243; P:regulation of transcription elongation from RNA polymerase II promoter; IC:ComplexPortal.
DR GO; GO:0034472; P:snRNA 3'-end processing; IBA:GO_Central.
DR GO; GO:0016180; P:snRNA processing; IC:ComplexPortal.
DR Gene3D; 3.40.50.410; -; 1.
DR InterPro; IPR039841; INTS14.
DR InterPro; IPR045814; IntS14_C.
DR InterPro; IPR002035; VWF_A.
DR InterPro; IPR036465; vWFA_dom_sf.
DR PANTHER; PTHR13532; PTHR13532; 1.
DR Pfam; PF19435; IntS14; 1.
DR Pfam; PF13519; VWA_2; 1.
DR SUPFAM; SSF53300; SSF53300; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Alternative splicing; Nucleus;
KW Reference proteome.
FT CHAIN 1..518
FT /note="Integrator complex subunit 14"
FT /id="PRO_0000296266"
FT DOMAIN 2..204
FT /note="VWFA"
FT MOD_RES 418
FT /note="N6-acetyllysine"
FT /evidence="ECO:0007744|PubMed:19608861"
FT VAR_SEQ 1..79
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_044250"
FT VAR_SEQ 4..74
FT /note="VVVMDVSLSMTRPVSIEGSEEYQRKHLAAHGLTMLFEHMATNYKLEFTALVV
FT FSSLWELMVPFTRDYNTLQ -> ESLCRRTVSGDGHG (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_043277"
FT VAR_SEQ 75..86
FT /note="EALSNMDDYDKT -> VQNVVSYCMYRA (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_027180"
FT VAR_SEQ 87..518
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_027181"
FT CONFLICT 7
FT /note="M -> I (in Ref. 4; AAH37823)"
FT /evidence="ECO:0000305"
FT CONFLICT 89
FT /note="E -> G (in Ref. 1; CAB66597)"
FT /evidence="ECO:0000305"
FT CONFLICT 177
FT /note="D -> Y (in Ref. 2; BAB55140)"
FT /evidence="ECO:0000305"
FT CONFLICT 206
FT /note="D -> G (in Ref. 1; CAB66597)"
FT /evidence="ECO:0000305"
FT STRAND 3..8
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 11..14
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 15..17
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 27..45
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 51..68
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 70..76
FT /evidence="ECO:0007829|PDB:6SN1"
FT TURN 77..79
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 88..103
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 105..107
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 109..115
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 121..124
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 126..131
FT /evidence="ECO:0007829|PDB:6SN1"
FT TURN 135..140
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 147..158
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 160..164
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 168..178
FT /evidence="ECO:0007829|PDB:6SN1"
FT TURN 179..181
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 183..186
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 194..208
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 212..218
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 221..229
FT /evidence="ECO:0007829|PDB:6SN1"
FT TURN 238..240
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 249..258
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 259..262
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 268..275
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 298..304
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 309..320
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 322..329
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 332..338
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 348..352
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 355..357
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 361..363
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 366..368
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 369..371
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 372..374
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 375..377
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 398..400
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 409..423
FT /evidence="ECO:0007829|PDB:6SN1"
FT TURN 426..429
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 430..447
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 450..465
FT /evidence="ECO:0007829|PDB:6SN1"
FT HELIX 474..490
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 493..496
FT /evidence="ECO:0007829|PDB:6SN1"
FT STRAND 498..500
FT /evidence="ECO:0007829|PDB:6SN1"
SQ SEQUENCE 518 AA; 57471 MW; 5B05ED69BA6451BD CRC64;
MPTVVVMDVS LSMTRPVSIE GSEEYQRKHL AAHGLTMLFE HMATNYKLEF TALVVFSSLW
ELMVPFTRDY NTLQEALSNM DDYDKTCLES ALVGVCNIVQ QEWGGAIPCQ VVLVTDGCLG
IGRGSLRHSL ATQNQRSESN RFPLPFPFPS KLYIMCMANL EELQSTDSLE CLERLIDLNN
GEGQIFTIDG PLCLKNVQSM FGKLIDLAYT PFHAVLKCGH LTADVQVFPR PEPFVVDEEI
DPIPKVINTD LEIVGFIDIA DISSPPVLSR HLVLPIALNK EGDEVGTGIT DDNEDENSAN
QIAGKIPNFC VLLHGSLKVE GMVAIVQLGP EWHGMLYSQA DSKKKSNLMM SLFEPGPEPL
PWLGKMAQLG PISDAKENPY GEDDNKSPFP LQPKNKRSYA QNVTVWIKPS GLQTDVQKIL
RNARKLPEKT QTFYKELNRL RKAALAFGFL DLLKGVADML ERECTLLPET AHPDAAFQLT
HAAQQLKLAS TGTSEYAAYD QNITPLHTDF SGSSTERI
