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CENPL_HUMAN
ID   CENPL_HUMAN             Reviewed;         344 AA.
AC   Q8N0S6; Q5TEL5; Q96ND4;
DT   25-JUL-2006, integrated into UniProtKB/Swiss-Prot.
DT   25-JUL-2006, sequence version 2.
DT   03-AUG-2022, entry version 137.
DE   RecName: Full=Centromere protein L;
DE            Short=CENP-L;
DE   AltName: Full=Interphase centromere complex protein 33;
GN   Name=CENPL; Synonyms=C1orf155, ICEN33;
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=Synovial cell;
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 GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA   Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA   Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA   Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA   Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA   Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA   Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA   Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA   Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA   McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA   Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA   White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA   Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA   Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA   Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
RC   TISSUE=Eye, Muscle, and Urinary bladder;
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   [4]
RP   FUNCTION, AND SUBCELLULAR LOCATION.
RX   PubMed=16716197; DOI=10.1111/j.1365-2443.2006.00969.x;
RA   Izuta H., Ikeno M., Suzuki N., Tomonaga T., Nozaki N., Obuse C., Kisu Y.,
RA   Goshima N., Nomura F., Nomura N., Yoda K.;
RT   "Comprehensive analysis of the ICEN (Interphase Centromere Complex)
RT   components enriched in the CENP-A chromatin of human cells.";
RL   Genes Cells 11:673-684(2006).
RN   [5]
RP   IDENTIFICATION BY MASS SPECTROMETRY, AND IDENTIFICATION IN THE CENPA-CAD
RP   COMPLEX WITH CENPI; CENPK; CENPO; CENPP; CENPQ; CENPR AND CENPS.
RX   PubMed=16622419; DOI=10.1038/ncb1397;
RA   Foltz D.R., Jansen L.E.T., Black B.E., Bailey A.O., Yates J.R. III,
RA   Cleveland D.W.;
RT   "The human CENP-A centromeric nucleosome-associated complex.";
RL   Nat. Cell Biol. 8:458-469(2006).
RN   [6]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-53, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA   Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA   Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT   "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT   site occupancy during mitosis.";
RL   Sci. Signal. 3:RA3-RA3(2010).
RN   [7]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-39 AND THR-43, AND
RP   IDENTIFICATION BY 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).
CC   -!- FUNCTION: Component of the CENPA-CAD (nucleosome distal) complex, a
CC       complex recruited to centromeres which is involved in assembly of
CC       kinetochore proteins, mitotic progression and chromosome segregation.
CC       May be involved in incorporation of newly synthesized CENPA into
CC       centromeres via its interaction with the CENPA-NAC complex.
CC       {ECO:0000269|PubMed:16716197}.
CC   -!- SUBUNIT: Component of the CENPA-CAD complex, composed of CENPI, CENPK,
CC       CENPL, CENPO, CENPP, CENPQ, CENPR and CENPS. The CENPA-CAD complex
CC       interacts with the CENPA-NAC complex, at least composed of CENPA,
CC       CENPC, CENPH, CENPM, CENPN, CENPT and CENPU.
CC       {ECO:0000269|PubMed:16622419}.
CC   -!- INTERACTION:
CC       Q8N0S6; Q8IZU0: FAM9B; NbExp=3; IntAct=EBI-8467109, EBI-10175124;
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:16716197}.
CC       Chromosome, centromere {ECO:0000269|PubMed:16716197}. Note=Localizes
CC       exclusively in the centromeres. The CENPA-CAD complex is probably
CC       recruited on centromeres by the CENPA-NAC complex.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q8N0S6-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8N0S6-2; Sequence=VSP_019939;
CC       Name=3;
CC         IsoId=Q8N0S6-3; Sequence=VSP_019940, VSP_019941;
CC   -!- SIMILARITY: Belongs to the CENP-L/IML3 family. {ECO:0000305}.
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DR   EMBL; AK055606; BAB70968.1; -; mRNA.
DR   EMBL; AL109921; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; BC007071; AAH07071.1; -; mRNA.
DR   EMBL; BC033154; AAH33154.1; -; mRNA.
DR   EMBL; BC066658; AAH66658.1; -; mRNA.
DR   CCDS; CCDS30938.1; -. [Q8N0S6-1]
DR   CCDS; CCDS44277.1; -. [Q8N0S6-2]
DR   RefSeq; NP_001120653.1; NM_001127181.2. [Q8N0S6-2]
DR   RefSeq; NP_001164653.1; NM_001171182.1. [Q8N0S6-1]
DR   RefSeq; NP_201576.1; NM_033319.3. [Q8N0S6-1]
DR   AlphaFoldDB; Q8N0S6; -.
DR   BioGRID; 124865; 21.
DR   ComplexPortal; CPX-5646; Kinetochore CCAN complex.
DR   CORUM; Q8N0S6; -.
DR   IntAct; Q8N0S6; 8.
DR   MINT; Q8N0S6; -.
DR   iPTMnet; Q8N0S6; -.
DR   PhosphoSitePlus; Q8N0S6; -.
DR   BioMuta; CENPL; -.
DR   DMDM; 110832790; -.
DR   EPD; Q8N0S6; -.
DR   jPOST; Q8N0S6; -.
DR   MassIVE; Q8N0S6; -.
DR   MaxQB; Q8N0S6; -.
DR   PeptideAtlas; Q8N0S6; -.
DR   PRIDE; Q8N0S6; -.
DR   ProteomicsDB; 71450; -. [Q8N0S6-1]
DR   ProteomicsDB; 71451; -. [Q8N0S6-2]
DR   ProteomicsDB; 71452; -. [Q8N0S6-3]
DR   Antibodypedia; 47079; 72 antibodies from 23 providers.
DR   DNASU; 91687; -.
DR   Ensembl; ENST00000345664.10; ENSP00000323543.7; ENSG00000120334.16. [Q8N0S6-1]
DR   Ensembl; ENST00000356198.6; ENSP00000348527.2; ENSG00000120334.16. [Q8N0S6-2]
DR   Ensembl; ENST00000367710.7; ENSP00000356683.3; ENSG00000120334.16. [Q8N0S6-1]
DR   Ensembl; ENST00000682279.1; ENSP00000507473.1; ENSG00000120334.16. [Q8N0S6-1]
DR   GeneID; 91687; -.
DR   KEGG; hsa:91687; -.
DR   MANE-Select; ENST00000682279.1; ENSP00000507473.1; NM_001387287.1; NP_001374216.1.
DR   UCSC; uc001gje.5; human. [Q8N0S6-1]
DR   CTD; 91687; -.
DR   DisGeNET; 91687; -.
DR   GeneCards; CENPL; -.
DR   HGNC; HGNC:17879; CENPL.
DR   HPA; ENSG00000120334; Tissue enhanced (bone marrow, testis).
DR   MIM; 611503; gene.
DR   neXtProt; NX_Q8N0S6; -.
DR   OpenTargets; ENSG00000120334; -.
DR   PharmGKB; PA142672406; -.
DR   VEuPathDB; HostDB:ENSG00000120334; -.
DR   GeneTree; ENSGT00390000013877; -.
DR   HOGENOM; CLU_070598_0_0_1; -.
DR   InParanoid; Q8N0S6; -.
DR   OMA; TACKMDQ; -.
DR   OrthoDB; 1179445at2759; -.
DR   PhylomeDB; Q8N0S6; -.
DR   TreeFam; TF329688; -.
DR   PathwayCommons; Q8N0S6; -.
DR   Reactome; R-HSA-141444; Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal.
DR   Reactome; R-HSA-2467813; Separation of Sister Chromatids.
DR   Reactome; R-HSA-2500257; Resolution of Sister Chromatid Cohesion.
DR   Reactome; R-HSA-5663220; RHO GTPases Activate Formins.
DR   Reactome; R-HSA-606279; Deposition of new CENPA-containing nucleosomes at the centromere.
DR   Reactome; R-HSA-68877; Mitotic Prometaphase.
DR   Reactome; R-HSA-9648025; EML4 and NUDC in mitotic spindle formation.
DR   SignaLink; Q8N0S6; -.
DR   SIGNOR; Q8N0S6; -.
DR   BioGRID-ORCS; 91687; 352 hits in 1089 CRISPR screens.
DR   ChiTaRS; CENPL; human.
DR   GeneWiki; CENPL; -.
DR   GenomeRNAi; 91687; -.
DR   Pharos; Q8N0S6; Tbio.
DR   PRO; PR:Q8N0S6; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; Q8N0S6; protein.
DR   Bgee; ENSG00000120334; Expressed in oocyte and 146 other tissues.
DR   ExpressionAtlas; Q8N0S6; baseline and differential.
DR   Genevisible; Q8N0S6; HS.
DR   GO; GO:0000775; C:chromosome, centromeric region; IEA:UniProtKB-SubCell.
DR   GO; GO:0005829; C:cytosol; TAS:Reactome.
DR   GO; GO:0005654; C:nucleoplasm; TAS:Reactome.
DR   InterPro; IPR025204; CENP-L.
DR   PANTHER; PTHR31740; PTHR31740; 1.
DR   Pfam; PF13092; CENP-L; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Centromere; Chromosome; Nucleus; Phosphoprotein;
KW   Reference proteome.
FT   CHAIN           1..344
FT                   /note="Centromere protein L"
FT                   /id="PRO_0000247170"
FT   MOD_RES         39
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   MOD_RES         43
FT                   /note="Phosphothreonine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   MOD_RES         53
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:20068231"
FT   VAR_SEQ         140
FT                   /note="Q -> QGLILSPRLEYSGTILVDCNLCLLGSSDPSTLAFQVAGTAGACHHTR
FT                   (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_019939"
FT   VAR_SEQ         141..188
FT                   /note="IVSKSQLPSENREGKVLWTGWFCCVFGDSLLETVSEDFTCLPLFLANG ->
FT                   GLILSPRLEYSGTILVDCNLCLLGSSDPSTLAFQVAGTADCVKISIAI (in
FT                   isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_019940"
FT   VAR_SEQ         189..344
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:14702039"
FT                   /id="VSP_019941"
FT   VARIANT         117
FT                   /note="I -> F (in dbSNP:rs12086855)"
FT                   /id="VAR_027081"
SQ   SEQUENCE   344 AA;  38998 MW;  20EB5565F392FDE2 CRC64;
     MDSYSAPEST PSASSRPEDY FIGATPLQKR LESVRKQSSF ILTPPRRKIP QCSQLQEDVD
     PQKVAFLLHK QWTLYSLTPL YKFSYSNLKE YSRLLNAFIV AEKQKGLAVE VGEDFNIKVI
     FSTLLGMKGT QRDPEAFLVQ IVSKSQLPSE NREGKVLWTG WFCCVFGDSL LETVSEDFTC
     LPLFLANGAE SNTAIIGTWF QKTFDCYFSP LAINAFNLSW MAAMWTACKM DHYVATTEFL
     WSVPCSPQSL DISFAIHPED AKALWDSVHK TPGEVTQEEV DLFMDCLYSH FHRHFKIHLS
     ATRLVRVSTS VASAHTDGKI KILCHKYLIG VLAYLTELAI FQIE
 
 
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