Entry sw:CE126_HUMAN

ID   CE126_HUMAN             Reviewed;        1117 AA.
AC   Q9P2H0; Q4G0U6;
DT   05-SEP-2006, integrated into UniProtKB/Swiss-Prot.
DT   18-MAY-2010, sequence version 3.
DT   18-JAN-2017, entry version 105.
DE   RecName: Full=Centrosomal protein of 126 kDa {ECO:0000303|PubMed:24867236, ECO:0000312|HGNC:HGNC:29264};
GN   Name=CEP126 {ECO:0000303|PubMed:24867236,
GN   ECO:0000312|HGNC:HGNC:29264}; Synonyms=KIAA1377;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC   Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC   Catarrhini; Hominidae; Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS CYS-238
RP   AND ASN-1077.
RX   PubMed=16554811; DOI=10.1038/nature04632;
RA   Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA   Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F.,
RA   Bloom T., Bruford E., Chang J.L., Cuomo C.A., Eichler E.,
RA   FitzGerald M.G., Jaffe D.B., LaButti K., Nicol R., Park H.-S.,
RA   Seaman C., Sougnez C., Yang X., Zimmer A.R., Zody M.C., Birren B.W.,
RA   Nusbaum C., Fujiyama A., Hattori M., Rogers J., Lander E.S.,
RA   Sakaki Y.;
RT   "Human chromosome 11 DNA sequence and analysis including novel gene
RT   identification.";
RL   Nature 440:497-500(2006).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 130-1117, TISSUE
RP   SPECIFICITY, AND VARIANTS CYS-238 AND ASN-1077.
RC   TISSUE=Brain;
RX   PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA   Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT   "Prediction of the coding sequences of unidentified human genes. XVI.
RT   The complete sequences of 150 new cDNA clones from brain which code
RT   for large proteins in vitro.";
RL   DNA Res. 7:65-73(2000).
RN   [3]
RP   FUNCTION, AND SUBCELLULAR LOCATION.
RX   PubMed=19799413; DOI=10.1021/pr900325f;
RA   Chen T.C., Lee S.A., Hong T.M., Shih J.Y., Lai J.M., Chiou H.Y.,
RA   Yang S.C., Chan C.H., Kao C.Y., Yang P.C., Huang C.Y.;
RT   "From midbody protein-protein interaction network construction to
RT   novel regulators in cytokinesis.";
RL   J. Proteome Res. 8:4943-4953(2009).
RN   [4]
RP   FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH DCTN1.
RX   PubMed=24867236; DOI=10.1111/boc.201300087;
RA   Bonavita R., Walas D., Brown A.K., Luini A., Stephens D.J.,
RA   Colanzi A.;
RT   "Cep126 is required for pericentriolar satellite localisation to the
RT   centrosome and for primary cilium formation.";
RL   Biol. Cell 106:254-267(2014).
RN   [5]
RP   VARIANT SER-668.
RX   PubMed=22264561; DOI=10.1016/j.nmd.2011.11.006;
RA   Lim Y.M., Koh I., Park Y.M., Kim J.J., Kim D.S., Kim H.J., Baik K.H.,
RA   Choi H.Y., Yang G.S., Also-Rallo E., Tizzano E.F., Gamez J., Park K.,
RA   Yoo H.W., Lee J.K., Kim K.K.;
RT   "Exome sequencing identifies KIAA1377 and C5orf42 as susceptibility
RT   genes for monomelic amyotrophy.";
RL   Neuromuscul. Disord. 22:394-400(2012).
CC   -!- FUNCTION: Participates in cytokinesis (PubMed:19799413). Necessary
CC       for microtubules and mitotic spindle organization
CC       (PubMed:24867236). Involved in primary cilium formation
CC       (PubMed:24867236). {ECO:0000269|PubMed:19799413,
CC       ECO:0000269|PubMed:24867236}.
CC   -!- SUBUNIT: Interacts with DCTN1. {ECO:0000269|PubMed:24867236}.
CC   -!- INTERACTION:
CC       Q99728:BARD1; NbExp=2; IntAct=EBI-473176, EBI-473181;
CC       Q99689:FEZ1; NbExp=2; IntAct=EBI-473176, EBI-396435;
CC       O95257:GADD45G; NbExp=2; IntAct=EBI-473176, EBI-448202;
CC       Q9Y2X7:GIT1; NbExp=2; IntAct=EBI-473176, EBI-466061;
CC       P42858:HTT; NbExp=2; IntAct=EBI-473176, EBI-466029;
CC       Q92993:KAT5; NbExp=2; IntAct=EBI-473176, EBI-399080;
CC       O95251:KAT7; NbExp=2; IntAct=EBI-473176, EBI-473199;
CC   -!- SUBCELLULAR LOCATION: Midbody {ECO:0000269|PubMed:19799413,
CC       ECO:0000269|PubMed:24867236}. Cytoplasm, cytoskeleton, microtubule
CC       organizing center, centrosome {ECO:0000269|PubMed:24867236}.
CC       Cytoplasm, cytoskeleton, cilium basal body
CC       {ECO:0000269|PubMed:24867236}.
CC   -!- TISSUE SPECIFICITY: Expressed in brain, lung, skeletal muscle,
CC       kidney, pancreas, testis and ovary. {ECO:0000269|PubMed:10718198}.
CC   -!- MISCELLANEOUS: Depletion of CEP126 by siRNA results in an increase
CC       in cytokinesis aberrant cells. {ECO:0000305|PubMed:19799413}.
DR   EMBL; AP003383; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AB037798; BAA92615.1; -; mRNA.
DR   CCDS; CCDS31658.1; -.
DR   RefSeq; NP_065853.3; NM_020802.3.
DR   UniGene; Hs.156352; -.
DR   ProteinModelPortal; Q9P2H0; -.
DR   BioGrid; 121617; 78.
DR   IntAct; Q9P2H0; 94.
DR   MINT; MINT-1425828; -.
DR   STRING; 9606.ENSP00000263468; -.
DR   iPTMnet; Q9P2H0; -.
DR   PhosphoSitePlus; Q9P2H0; -.
DR   BioMuta; KIAA1377; -.
DR   DMDM; 296439319; -.
DR   PaxDb; Q9P2H0; -.
DR   PeptideAtlas; Q9P2H0; -.
DR   PRIDE; Q9P2H0; -.
DR   DNASU; 57562; -.
DR   Ensembl; ENST00000263468; ENSP00000263468; ENSG00000110318.
DR   GeneID; 57562; -.
DR   KEGG; hsa:57562; -.
DR   UCSC; uc001pgm.4; human.
DR   CTD; 57562; -.
DR   DisGeNET; 57562; -.
DR   GeneCards; CEP126; -.
DR   HGNC; HGNC:29264; CEP126.
DR   HPA; HPA038381; -.
DR   HPA; HPA038399; -.
DR   MIM; 614634; gene.
DR   neXtProt; NX_Q9P2H0; -.
DR   Orphanet; 65684; Monomelic amyotrophy.
DR   PharmGKB; PA143485517; -.
DR   eggNOG; ENOG410IFM4; Eukaryota.
DR   eggNOG; ENOG4111KUI; LUCA.
DR   HOGENOM; HOG000113165; -.
DR   HOVERGEN; HBG081836; -.
DR   InParanoid; Q9P2H0; -.
DR   OrthoDB; EOG091G0215; -.
DR   PhylomeDB; Q9P2H0; -.
DR   TreeFam; TF336632; -.
DR   BioCyc; ZFISH:ENSG00000110318-MONOMER; -.
DR   ChiTaRS; KIAA1377; human.
DR   GeneWiki; KIAA1377; -.
DR   GenomeRNAi; 57562; -.
DR   PRO; PR:Q9P2H0; -.
DR   Proteomes; UP000005640; Chromosome 11.
DR   Bgee; ENSG00000110318; -.
DR   CleanEx; HS_KIAA1377; -.
DR   ExpressionAtlas; Q9P2H0; baseline and differential.
DR   Genevisible; Q9P2H0; HS.
DR   GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR   GO; GO:0097546; C:ciliary base; IDA:UniProtKB.
DR   GO; GO:0005737; C:cytoplasm; IEA:UniProtKB-KW.
DR   GO; GO:0030496; C:midbody; IEA:UniProtKB-SubCell.
DR   GO; GO:0060271; P:cilium assembly; IMP:UniProtKB.
DR   GO; GO:0031122; P:cytoplasmic microtubule organization; IMP:UniProtKB.
DR   GO; GO:0007052; P:mitotic spindle organization; IMP:UniProtKB.
DR   GO; GO:1905515; P:non-motile cilium assembly; IEA:InterPro.
DR   InterPro; IPR028257; CEP126.
DR   Pfam; PF15352; K1377; 1.
PE   1: Evidence at protein level;
KW   Cell projection; Cilium biogenesis/degradation; Coiled coil;
KW   Complete proteome; Cytoplasm; Cytoskeleton; Polymorphism;
KW   Reference proteome.
FT   CHAIN         1   1117       Centrosomal protein of 126 kDa.
FT                                /FTId=PRO_0000248831.
FT   COILED       49    121       {ECO:0000255}.
FT   VARIANT     178    178       A -> T (in dbSNP:rs11225086).
FT                                /FTId=VAR_027363.
FT   VARIANT     238    238       G -> C (in dbSNP:rs7926728).
FT                                {ECO:0000269|PubMed:10718198,
FT                                ECO:0000269|PubMed:16554811}.
FT                                /FTId=VAR_027364.
FT   VARIANT     275    275       S -> Y (in dbSNP:rs11225089).
FT                                /FTId=VAR_027365.
FT   VARIANT     281    281       I -> T (in dbSNP:rs11225090).
FT                                /FTId=VAR_027366.
FT   VARIANT     302    302       A -> T (in dbSNP:rs11225091).
FT                                /FTId=VAR_027367.
FT   VARIANT     668    668       G -> S (may be associated with
FT                                susceptibility to monomelic amyotrophy;
FT                                dbSNP:rs76022391).
FT                                {ECO:0000269|PubMed:22264561}.
FT                                /FTId=VAR_068173.
FT   VARIANT     710    710       P -> S (in dbSNP:rs7109614).
FT                                /FTId=VAR_027368.
FT   VARIANT    1021   1021       M -> T (in dbSNP:rs7111429).
FT                                /FTId=VAR_027369.
FT   VARIANT    1077   1077       S -> N (in dbSNP:rs6590942).
FT                                {ECO:0000269|PubMed:10718198,
FT                                ECO:0000269|PubMed:16554811}.
FT                                /FTId=VAR_027370.
CC   --------------------------------------------------------------------------
CC   The following FT lines are automated annotations from the MyHits database.
CC   --------------------------------------------------------------------------
FT   MYHIT       105   1081       ipfam:K1377 [T]
SQ   SEQUENCE   1117 AA;  125870 MW;  EF181D0177691D00 CRC64;
     MLAGRPGTRS AVGELGTESS DNLDRAPLGP RESGGHHRPG SYLDMKIHLE KNLEEERQIL
     LQQQKICRNR ARKYFVESNR RKKAFEEKRK EQEEKEHQIR EQILQQRKQK FEEVTEKFQR
     AHVPLSQRRK AVSRKPVPPL EEALKQIQES NLKSEVNLPF SRRPTINWRA IDSALPSALS
     KNDHKHQKQL LSKINCEKEM NENMRATLAT SKNVFQLKLE ETQKLLEDQH LSNLQKFGDE
     VNQITNSETL SSIDSLEATE HEEIYLTLNK EHSTSIQRNT ISLKPANMQS TNLSCFDEDK
     LAFSKTQHIN NWLTNLDASN TQNVTAFSDI LSKSNVLPSW EYFNSKEQNP SPLNGTVERA
     TNTANNSVPF VSSPPMFVLD KKCEKTSETS TMRTTDSTSG AFKRERPLVT ESPTFKFSKS
     QSTSDSLTQE VATFPDQEKY SELNQENGTT SIPTSCVPVA TPLVLPSNIQ SARPSAKNSI
     HIKEIDAVQC SDKLDELKDG KEEEIKYFNC NKEELPLFSD SFQDAYIPHN PDSKDEKQKL
     AETSSLSNVT SNYDFVGQHK KMKYNIHERN GVRFLKSILK KESKYEHGYL KALIINQSFK
     FGNQKAAAIR DSIELTKEKG AEIPKTIKKL RWFDETSNIE NNAENSHSLK NKTGTTQQHS
     QQFHIQSGAG SNIISVSTCA VNSADTKKSR EDSISENVTT LGGSGADHMP LNCFIPSGYN
     FAKHAWPASK KEESKIPVHD DSKTKQGKPQ RGRAKIIRKP GSAKVQSGFI CTNRKGAVIQ
     PQSASKVNIF TQAQGKLIIP CPPPQSTSNI RSGKNIQVSQ CQPVTPENPQ NIITHNSFNS
     KHVLPTEHSL NQWNQESSSP LSNACSDLVT VIPSLPSYCS SECQTFAKIN HSNGTQAVAR
     QDATLYCTQR SPVCEESYPS VTLRTAEEES VPLWKRGPNV LHQNKRATGS TVMRRKRIAE
     TKRRNILEQK RQNPGSVGQK YSEQINNFGQ SVLLSSSEPK QTTRGTSYIE EVSDSTSEFL
     MAENLVKASV PEDEILTVLN SKQIQKSNLP LNKTQQFNIC TLSAEEQKIL ESLNDLSERL
     HYIQESICKN PSIKNTLQII PLLEKREDRT SSCRDKR
//