CEP89_HUMAN
ID CEP89_HUMAN Reviewed; 783 AA.
AC Q96ST8; B9EGA6; Q8N5J8;
DT 29-MAY-2007, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 143.
DE RecName: Full=Centrosomal protein of 89 kDa;
DE Short=Cep89;
DE AltName: Full=Centrosomal protein 123;
DE Short=Cep123;
DE AltName: Full=Coiled-coil domain-containing protein 123;
GN Name=CEP89; Synonyms=CCDC123;
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 2), AND VARIANT ALA-398.
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=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E.,
RA Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A.,
RA Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S.,
RA Carrano A.V., Caoile C., Chan Y.M., Christensen M., Cleland C.A.,
RA Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J.,
RA Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M.,
RA Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W.,
RA Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V.,
RA Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D.,
RA McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I.,
RA Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L.,
RA Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A.,
RA She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M.,
RA Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J.,
RA Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP ALA-398.
RC TISSUE=Brain, and Colon;
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 IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Lymphoblast;
RX PubMed=14654843; DOI=10.1038/nature02166;
RA Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.;
RT "Proteomic characterization of the human centrosome by protein correlation
RT profiling.";
RL Nature 426:570-574(2003).
RN [5]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-50, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [6]
RP SUBCELLULAR LOCATION.
RX PubMed=21976302; DOI=10.1002/cm.20536;
RA Sillibourne J.E., Specht C.G., Izeddin I., Hurbain I., Tran P., Triller A.,
RA Darzacq X., Dahan M., Bornens M.;
RT "Assessing the localization of centrosomal proteins by PALM/STORM
RT nanoscopy.";
RL Cytoskeleton 68:619-627(2011).
RN [7]
RP IDENTIFICATION BY MASS SPECTROMETRY, AND SUBCELLULAR LOCATION.
RX PubMed=21399614; DOI=10.1038/emboj.2011.63;
RA Jakobsen L., Vanselow K., Skogs M., Toyoda Y., Lundberg E., Poser I.,
RA Falkenby L.G., Bennetzen M., Westendorf J., Nigg E.A., Uhlen M.,
RA Hyman A.A., Andersen J.S.;
RT "Novel asymmetrically localizing components of human centrosomes identified
RT by complementary proteomics methods.";
RL EMBO J. 30:1520-1535(2011).
RN [8]
RP FUNCTION, AND SUBCELLULAR LOCATION.
RX PubMed=23348840; DOI=10.1101/gad.207043.112;
RA Tanos B.E., Yang H.J., Soni R., Wang W.J., Macaluso F.P., Asara J.M.,
RA Tsou M.F.;
RT "Centriole distal appendages promote membrane docking, leading to cilia
RT initiation.";
RL Genes Dev. 27:163-168(2013).
RN [9]
RP FUNCTION, SUBCELLULAR LOCATION, AND DISEASE.
RX PubMed=23575228; DOI=10.1093/hmg/ddt170;
RA van Bon B.W., Oortveld M.A., Nijtmans L.G., Fenckova M., Nijhof B.,
RA Besseling J., Vos M., Kramer J.M., de Leeuw N., Castells-Nobau A.,
RA Asztalos L., Viragh E., Ruiter M., Hofmann F., Eshuis L., Collavin L.,
RA Huynen M.A., Asztalos Z., Verstreken P., Rodenburg R.J., Smeitink J.A.,
RA de Vries B.B., Schenck A.;
RT "CEP89 is required for mitochondrial metabolism and neuronal function in
RT man and fly.";
RL Hum. Mol. Genet. 22:3138-3151(2013).
CC -!- FUNCTION: Required for ciliogenesis. Also plays a role in mitochondrial
CC metabolism where it may modulate complex IV activity.
CC {ECO:0000269|PubMed:23348840, ECO:0000269|PubMed:23575228}.
CC -!- INTERACTION:
CC Q96ST8-3; P62166: NCS1; NbExp=4; IntAct=EBI-11144046, EBI-746987;
CC Q96ST8-3; Q9NRD5: PICK1; NbExp=3; IntAct=EBI-11144046, EBI-79165;
CC -!- SUBCELLULAR LOCATION: Cytoplasm, cytosol. Cytoplasm, cytoskeleton,
CC microtubule organizing center, centrosome
CC {ECO:0000269|PubMed:14654843}. Cytoplasm, cytoskeleton, spindle pole.
CC Cytoplasm, cytoskeleton, microtubule organizing center, centrosome,
CC centriole. Mitochondrion intermembrane space. Note=Localizes to the
CC distal appendage region of the centriole, which anchors the mother
CC centriole to the plasma membrane.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96ST8-1; Sequence=Displayed;
CC Name=2;
CC IsoId=Q96ST8-2; Sequence=VSP_039181;
CC Name=3;
CC IsoId=Q96ST8-3; Sequence=VSP_039182, VSP_039183;
CC -!- DISEASE: Note=Homozygous deletion comprising CEP89 and SLC7A9 genes has
CC been reported in a patient with isolated complex IV deficiency,
CC intellectual disability and multisystemic problems that include
CC cystinuria, cataract, broad based walking pattern and deafness.
CC {ECO:0000269|PubMed:23575228}.
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DR EMBL; AK027546; BAB55190.1; -; mRNA.
DR EMBL; AC008805; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC119048; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC011449; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC032307; AAH32307.1; -; mRNA.
DR EMBL; BC136328; AAI36329.1; -; mRNA.
DR CCDS; CCDS32987.1; -. [Q96ST8-1]
DR RefSeq; NP_116205.3; NM_032816.4. [Q96ST8-1]
DR RefSeq; XP_011525727.1; XM_011527425.2.
DR AlphaFoldDB; Q96ST8; -.
DR SMR; Q96ST8; -.
DR BioGRID; 124342; 139.
DR DIP; DIP-47325N; -.
DR IntAct; Q96ST8; 98.
DR MINT; Q96ST8; -.
DR STRING; 9606.ENSP00000306105; -.
DR iPTMnet; Q96ST8; -.
DR PhosphoSitePlus; Q96ST8; -.
DR BioMuta; CEP89; -.
DR DMDM; 296439414; -.
DR EPD; Q96ST8; -.
DR jPOST; Q96ST8; -.
DR MassIVE; Q96ST8; -.
DR MaxQB; Q96ST8; -.
DR PaxDb; Q96ST8; -.
DR PeptideAtlas; Q96ST8; -.
DR PRIDE; Q96ST8; -.
DR ProteomicsDB; 78147; -. [Q96ST8-1]
DR ProteomicsDB; 78148; -. [Q96ST8-2]
DR ProteomicsDB; 78149; -. [Q96ST8-3]
DR Antibodypedia; 47945; 121 antibodies from 16 providers.
DR DNASU; 84902; -.
DR Ensembl; ENST00000305768.10; ENSP00000306105.4; ENSG00000121289.18. [Q96ST8-1]
DR GeneID; 84902; -.
DR KEGG; hsa:84902; -.
DR MANE-Select; ENST00000305768.10; ENSP00000306105.4; NM_032816.5; NP_116205.3.
DR UCSC; uc002nty.4; human. [Q96ST8-1]
DR CTD; 84902; -.
DR DisGeNET; 84902; -.
DR GeneCards; CEP89; -.
DR HGNC; HGNC:25907; CEP89.
DR HPA; ENSG00000121289; Low tissue specificity.
DR MIM; 615470; gene.
DR neXtProt; NX_Q96ST8; -.
DR OpenTargets; ENSG00000121289; -.
DR PharmGKB; PA147358250; -.
DR VEuPathDB; HostDB:ENSG00000121289; -.
DR eggNOG; ENOG502QWK8; Eukaryota.
DR GeneTree; ENSGT00390000018876; -.
DR HOGENOM; CLU_023281_0_0_1; -.
DR InParanoid; Q96ST8; -.
DR OMA; LRMGPNW; -.
DR OrthoDB; 476357at2759; -.
DR PhylomeDB; Q96ST8; -.
DR TreeFam; TF329234; -.
DR PathwayCommons; Q96ST8; -.
DR Reactome; R-HSA-5620912; Anchoring of the basal body to the plasma membrane.
DR SignaLink; Q96ST8; -.
DR BioGRID-ORCS; 84902; 12 hits in 1079 CRISPR screens.
DR ChiTaRS; CEP89; human.
DR GenomeRNAi; 84902; -.
DR Pharos; Q96ST8; Tbio.
DR PRO; PR:Q96ST8; -.
DR Proteomes; UP000005640; Chromosome 19.
DR RNAct; Q96ST8; protein.
DR Bgee; ENSG00000121289; Expressed in cortical plate and 147 other tissues.
DR ExpressionAtlas; Q96ST8; baseline and differential.
DR Genevisible; Q96ST8; HS.
DR GO; GO:0005814; C:centriole; IDA:UniProtKB.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0097539; C:ciliary transition fiber; IDA:GO_Central.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0005758; C:mitochondrial intermembrane space; IEA:UniProtKB-SubCell.
DR GO; GO:0031514; C:motile cilium; IEA:Ensembl.
DR GO; GO:0097730; C:non-motile cilium; IDA:GO_Central.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0000922; C:spindle pole; IDA:UniProtKB.
DR GO; GO:0045202; C:synapse; IEA:GOC.
DR GO; GO:0007268; P:chemical synaptic transmission; IEA:InterPro.
DR GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR GO; GO:0007005; P:mitochondrion organization; IBA:GO_Central.
DR GO; GO:1905515; P:non-motile cilium assembly; IMP:GO_Central.
DR InterPro; IPR033545; CEP89.
DR PANTHER; PTHR36170; PTHR36170; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; Cilium biogenesis/degradation; Coiled coil;
KW Cytoplasm; Cytoskeleton; Mitochondrion; Phosphoprotein; Reference proteome.
FT CHAIN 1..783
FT /note="Centrosomal protein of 89 kDa"
FT /id="PRO_0000288809"
FT REGION 28..49
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 63..157
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 175..226
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 234..333
FT /evidence="ECO:0000255"
FT COILED 369..719
FT /evidence="ECO:0000255"
FT COMPBIAS 31..45
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 63..114
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 141..156
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 201..216
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 50
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:19690332"
FT VAR_SEQ 1..247
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_039181"
FT VAR_SEQ 344..356
FT /note="SLNIEGLPSKGPI -> VTFPIVKISFSDF (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039182"
FT VAR_SEQ 357..782
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_039183"
FT VARIANT 194
FT /note="R -> W (in dbSNP:rs3764633)"
FT /id="VAR_063122"
FT VARIANT 398
FT /note="V -> A (in dbSNP:rs4805825)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_063123"
SQ SEQUENCE 783 AA; 89590 MW; 7EE45B222951CED0 CRC64;
MLLGFRRGRR SHFKHIIHGL LPAASVAPKA AVPRTPPPRS PNPSPERPRS ALAAAILATT
LTGRTVAIPQ PRQRSRSESD VSSVEQDSFI EPYATTSQLR PRPNWQSEMG RRSSLPSFET
LDYGDEEDIE TQLSSSGKEL GDVSAREDRG GHSDDLYAVP HRNQVPLLHE VNSEDDENIS
HQDGFPGSPP APQRTQQKDG KHPVLNLKDE KPPLCEKPPP SPDITGRARQ RYTEITREKF
EALKEENMDL NNMNQSLTLE LNTMKQAMKE LQLKLKGMEK EKRKLKEAEK ASSQEVAAPE
LLYLRKQAQE LVDENDGLKM TVHRLNVELS RYQTKFRHLS KEESLNIEGL PSKGPIPPWL
LDIKYLSPLL LAYEDMMKEK DELNATLKEE MRMFRMRVQE VVKENEELHQ ELNKSSAVTS
EEWRQLQTQA KLVLEENKLL LEQLEIQQRK AKDSHQERLQ EVSKLTKQLM LLEAKTHGQE
KELAENREQL EILRAKCQEL KTHSDGKIAV EVHKSIVNEL KSQLQKEEEK ERAEMEELME
KLTVLQAQKK SLLLEKNSLT EQNKALEAEL ERAQKINRKS QKKIEVLKKQ VEKAMGNEMS
AHQYLANLVG LAENITQERD SLMCLAKCLE SEKDGVLNKV IKSNIRLGKL EEKVKGYKKQ
AALKLGDISH RLLEQQEDFA GKTAQYRQEM RHLHQVLKDK QEVLDQALQQ NREMEGELEV
IWESTFRENR RIRELLQDTL TRTGVQDNPR ALVAPSLNGV SQADLLDGCD VCSYDLKSHA
PTC
