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 03-AUG-2022, entry version 133.
DE RecName: Full=Centrosomal protein of 126 kDa {ECO:0000303|PubMed:24867236, ECO:0000312|HGNC:HGNC:29264};
GN Name=CEP126 {ECO:0000303|PubMed:24867236, ECO:0000312|HGNC:HGNC:29264};
GN Synonyms=KIAA1377;
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 GENOMIC DNA], AND VARIANTS CYS-238 AND
RP 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., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., 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 SPECIFICITY, AND
RP 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. The
RT complete sequences of 150 new cDNA clones from brain which code for large
RT 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., Yang S.C.,
RA Chan C.H., Kao C.Y., Yang P.C., Huang C.Y.;
RT "From midbody protein-protein interaction network construction to novel
RT 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., 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 genes
RT for monomelic amyotrophy.";
RL Neuromuscul. Disord. 22:394-400(2012).
CC -!- FUNCTION: Participates in cytokinesis (PubMed:19799413). Necessary for
CC microtubules and mitotic spindle organization (PubMed:24867236).
CC Involved in primary cilium formation (PubMed:24867236).
CC {ECO:0000269|PubMed:19799413, ECO:0000269|PubMed:24867236}.
CC -!- SUBUNIT: Interacts with DCTN1. {ECO:0000269|PubMed:24867236}.
CC -!- INTERACTION:
CC Q9P2H0; Q99728: BARD1; NbExp=2; IntAct=EBI-473176, EBI-473181;
CC Q9P2H0; Q99689: FEZ1; NbExp=2; IntAct=EBI-473176, EBI-396435;
CC Q9P2H0; O95257: GADD45G; NbExp=2; IntAct=EBI-473176, EBI-448202;
CC Q9P2H0; Q9Y2X7: GIT1; NbExp=2; IntAct=EBI-473176, EBI-466061;
CC Q9P2H0; P42858: HTT; NbExp=2; IntAct=EBI-473176, EBI-466029;
CC Q9P2H0; Q92993: KAT5; NbExp=2; IntAct=EBI-473176, EBI-399080;
CC Q9P2H0; 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}. Cytoplasm,
CC cytoskeleton, cilium basal body {ECO:0000269|PubMed:24867236}.
CC -!- TISSUE SPECIFICITY: Expressed in brain, lung, skeletal muscle, kidney,
CC pancreas, testis and ovary. {ECO:0000269|PubMed:10718198}.
CC -!- MISCELLANEOUS: Depletion of CEP126 by siRNA results in an increase in
CC cytokinesis aberrant cells. {ECO:0000305|PubMed:19799413}.
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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 AlphaFoldDB; Q9P2H0; -.
DR SMR; Q9P2H0; -.
DR BioGRID; 121617; 83.
DR IntAct; Q9P2H0; 98.
DR MINT; Q9P2H0; -.
DR STRING; 9606.ENSP00000263468; -.
DR GlyGen; Q9P2H0; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q9P2H0; -.
DR PhosphoSitePlus; Q9P2H0; -.
DR BioMuta; CEP126; -.
DR DMDM; 296439319; -.
DR jPOST; Q9P2H0; -.
DR MassIVE; Q9P2H0; -.
DR PaxDb; Q9P2H0; -.
DR PeptideAtlas; Q9P2H0; -.
DR PRIDE; Q9P2H0; -.
DR ProteomicsDB; 83815; -.
DR Antibodypedia; 51505; 32 antibodies from 7 providers.
DR DNASU; 57562; -.
DR Ensembl; ENST00000263468.13; ENSP00000263468.8; ENSG00000110318.15.
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; ENSG00000110318; Low tissue specificity.
DR MalaCards; CEP126; -.
DR MIM; 614634; gene.
DR neXtProt; NX_Q9P2H0; -.
DR Orphanet; 65684; Monomelic amyotrophy.
DR PharmGKB; PA143485517; -.
DR VEuPathDB; HostDB:ENSG00000110318; -.
DR eggNOG; ENOG502QR78; Eukaryota.
DR HOGENOM; CLU_010202_0_0_1; -.
DR InParanoid; Q9P2H0; -.
DR OrthoDB; 99309at2759; -.
DR PhylomeDB; Q9P2H0; -.
DR TreeFam; TF336632; -.
DR PathwayCommons; Q9P2H0; -.
DR SignaLink; Q9P2H0; -.
DR BioGRID-ORCS; 57562; 15 hits in 1072 CRISPR screens.
DR ChiTaRS; CEP126; human.
DR GeneWiki; KIAA1377; -.
DR GenomeRNAi; 57562; -.
DR Pharos; Q9P2H0; Tdark.
DR PRO; PR:Q9P2H0; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q9P2H0; protein.
DR Bgee; ENSG00000110318; Expressed in bronchial epithelial cell and 173 other tissues.
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; IDA:HGNC.
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 PANTHER; PTHR31191; PTHR31191; 1.
DR Pfam; PF15352; K1377; 1.
PE 1: Evidence at protein level;
KW Cell projection; Cilium biogenesis/degradation; Coiled coil; Cytoplasm;
KW Cytoskeleton; Reference proteome.
FT CHAIN 1..1117
FT /note="Centrosomal protein of 126 kDa"
FT /id="PRO_0000248831"
FT REGION 1..42
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 643..664
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 730..759
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COILED 49..121
FT /evidence="ECO:0000255"
FT COMPBIAS 730..748
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VARIANT 178
FT /note="A -> T (in dbSNP:rs11225086)"
FT /id="VAR_027363"
FT VARIANT 238
FT /note="G -> C (in dbSNP:rs7926728)"
FT /evidence="ECO:0000269|PubMed:10718198,
FT ECO:0000269|PubMed:16554811"
FT /id="VAR_027364"
FT VARIANT 275
FT /note="S -> Y (in dbSNP:rs11225089)"
FT /id="VAR_027365"
FT VARIANT 281
FT /note="I -> T (in dbSNP:rs11225090)"
FT /id="VAR_027366"
FT VARIANT 302
FT /note="A -> T (in dbSNP:rs11225091)"
FT /id="VAR_027367"
FT VARIANT 668
FT /note="G -> S (may be associated with susceptibility to
FT monomelic amyotrophy; dbSNP:rs76022391)"
FT /evidence="ECO:0000269|PubMed:22264561"
FT /id="VAR_068173"
FT VARIANT 710
FT /note="P -> S (in dbSNP:rs7109614)"
FT /id="VAR_027368"
FT VARIANT 1021
FT /note="M -> T (in dbSNP:rs7111429)"
FT /id="VAR_027369"
FT VARIANT 1077
FT /note="S -> N (in dbSNP:rs6590942)"
FT /evidence="ECO:0000269|PubMed:10718198,
FT ECO:0000269|PubMed:16554811"
FT /id="VAR_027370"
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
