UniProtKB - Q66GS9 (CP135_HUMAN)
Protein
Centrosomal protein of 135 kDa
Gene
CEP135
Organism
Homo sapiens (Human)
Status
Functioni
Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole. Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner. Required for the recruitment of CEP295 to the proximal end of new-born centrioles at the centriolar microtubule wall during early S phase in a PLK4-dependent manner (PubMed:27185865).4 Publications
GO - Molecular functioni
- protein C-terminus binding Source: UniProtKB
GO - Biological processi
- centriole-centriole cohesion Source: UniProtKB
- centriole replication Source: UniProtKB
- ciliary basal body-plasma membrane docking Source: Reactome
- G2/M transition of mitotic cell cycle Source: Reactome
- positive regulation of establishment of protein localization Source: UniProtKB
- positive regulation of non-motile cilium assembly Source: UniProtKB
- regulation of G2/M transition of mitotic cell cycle Source: Reactome
Enzyme and pathway databases
PathwayCommonsi | Q66GS9 |
Reactomei | R-HSA-2565942, Regulation of PLK1 Activity at G2/M Transition R-HSA-380259, Loss of Nlp from mitotic centrosomes R-HSA-380270, Recruitment of mitotic centrosome proteins and complexes R-HSA-380284, Loss of proteins required for interphase microtubule organization from the centrosome R-HSA-380320, Recruitment of NuMA to mitotic centrosomes R-HSA-5620912, Anchoring of the basal body to the plasma membrane R-HSA-8854518, AURKA Activation by TPX2 |
Protein family/group databases
MoonDBi | Q66GS9, Predicted |
Names & Taxonomyi
Protein namesi | Recommended name: Centrosomal protein of 135 kDaCuratedShort name: Cep135 Alternative name(s): Centrosomal protein 4 |
Gene namesi | |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:29086, CEP135 |
MIMi | 611423, gene |
neXtProti | NX_Q66GS9 |
VEuPathDBi | HostDB:ENSG00000174799.10 |
Subcellular locationi
Cytoskeleton
- centriole 3 Publications
Note: During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles.
Cytoskeleton
- centriole Source: UniProtKB
- centrosome Source: UniProtKB
Cytosol
- cytosol Source: Reactome
Keywords - Cellular componenti
Cytoplasm, CytoskeletonPathology & Biotechi
Involvement in diseasei
Microcephaly 8, primary, autosomal recessive (MCPH8)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder.
Related information in OMIMKeywords - Diseasei
Mental retardation, Primary microcephalyOrganism-specific databases
DisGeNETi | 9662 |
MalaCardsi | CEP135 |
MIMi | 614673, phenotype |
OpenTargetsi | ENSG00000174799 |
Orphaneti | 2512, Autosomal recessive primary microcephaly |
PharmGKBi | PA128394551 |
Miscellaneous databases
Pharosi | Q66GS9, Tbio |
Genetic variation databases
BioMutai | CEP135 |
DMDMi | 296434460 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000089491 | 1 – 1140 | Centrosomal protein of 135 kDaAdd BLAST | 1140 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 383 | PhosphoserineCombined sources | 1 | |
Modified residuei | 439 | PhosphoserineCombined sources | 1 | |
Modified residuei | 688 | PhosphoserineCombined sources | 1 | |
Modified residuei | 1121 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 1130 | PhosphoserineBy similarity | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q66GS9 |
jPOSTi | Q66GS9 |
MassIVEi | Q66GS9 |
MaxQBi | Q66GS9 |
PaxDbi | Q66GS9 |
PeptideAtlasi | Q66GS9 |
PRIDEi | Q66GS9 |
ProteomicsDBi | 65948 [Q66GS9-1] 65949 [Q66GS9-2] |
PTM databases
iPTMneti | Q66GS9 |
PhosphoSitePlusi | Q66GS9 |
Expressioni
Gene expression databases
Bgeei | ENSG00000174799, Expressed in amniotic fluid and 207 other tissues |
Genevisiblei | Q66GS9, HS |
Organism-specific databases
HPAi | ENSG00000174799, Tissue enhanced (lymphoid) |
Interactioni
Subunit structurei
Interacts with DCTN2 (By similarity).
Interacts with CEP250 (PubMed:18851962).
By similarity1 PublicationBinary interactionsi
Hide detailsQ66GS9
GO - Molecular functioni
- protein C-terminus binding Source: UniProtKB
Protein-protein interaction databases
BioGRIDi | 115018, 175 interactors |
DIPi | DIP-50271N |
IntActi | Q66GS9, 184 interactors |
MINTi | Q66GS9 |
STRINGi | 9606.ENSP00000257287 |
Miscellaneous databases
RNActi | Q66GS9, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
SMRi | Q66GS9 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Coiled coil
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Coiled coili | 71 – 152 | Sequence analysisAdd BLAST | 82 | |
Coiled coili | 195 – 420 | Sequence analysisAdd BLAST | 226 | |
Coiled coili | 447 – 1039 | Sequence analysisAdd BLAST | 593 | |
Coiled coili | 1069 – 1116 | Sequence analysisAdd BLAST | 48 |
Sequence similaritiesi
Belongs to the CEP135/TSGA10 family.Curated
Keywords - Domaini
Coiled coilPhylogenomic databases
eggNOGi | ENOG502QT27, Eukaryota |
GeneTreei | ENSGT00940000159453 |
HOGENOMi | CLU_1152849_0_0_1 |
InParanoidi | Q66GS9 |
OMAi | RSLDDYQ |
OrthoDBi | 1249457at2759 |
PhylomeDBi | Q66GS9 |
TreeFami | TF326518 |
Family and domain databases
InterProi | View protein in InterPro IPR026732, Cep135 |
PANTHERi | PTHR23159:SF18, PTHR23159:SF18, 1 hit |
s (2)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketIsoform 1 (identifier: Q66GS9-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MTTAVERKYI NIRKRLDQLG YRQTLTVECL PLVEKLFSDL VHTTESLRQS
60 70 80 90 100
KLSAVKAEKE SANFDFVLEP YKLENARLSR ENNELYLELM KLREHSDQHV
110 120 130 140 150
KELKTSLKKC ARETADLKFL NNQYAHKLKL LEKESKAKNE RIQQLQEKNL
160 170 180 190 200
HAVVQTPGGK KRSIAFRRQR MQIDEPVPPS EVSSYPVPQP DDPYIADLLQ
210 220 230 240 250
VADNRIQELQ QEVHQLQEKL AMMESGVRDY SKQIELRERE IERLSVALDG
260 270 280 290 300
GRSPDVLSLE SRNKTNEKLI AHLNIQVDFL QQANKDLEKR IRELMETKET
310 320 330 340 350
VTSEVVNLSN KNEKLCQELT EIDQLAQQLE RHKEEVLETA DKELGEAKKE
360 370 380 390 400
IKRKLSEMQD LEETMAKLQL ELNLCQKEKE RLSDELLVKS DLETVVHQLE
410 420 430 440 450
QEKQRLSKKV ESFAVTERQL TLEVERMRLE HGIKRRDRSP SRLDTFLKGI
460 470 480 490 500
EEERDYYKKE LERLQHIIQR RSCSTSYSAR EKSSIFRTPE KGDYNSEIHQ
510 520 530 540 550
ITRERDELQR MLERFEKYME DIQSNVKLLT AERDKLSVLY NEAQEELSAL
560 570 580 590 600
RKESTQTTAP HNIVSLMEKE KELALSDLRR IMAEKEALRE KLEHIEEVSL
610 620 630 640 650
FGKSELEKTI EHLTCVNHQL ESEKYELKSK VLIMKETIES LENKLKVQAQ
660 670 680 690 700
KFSHVAGDSS HQKTEVNSLR IVNEQLQRSV DDYQHRLSIK RGELESAQAQ
710 720 730 740 750
IKILEEKIDE LNLKMTSQDE EAHVMKKTIG VIDKEKDFLQ ETVDEKTEKI
760 770 780 790 800
ANLQENLANK EKAVAQMKIM ISECESSVNQ LKETLVNRDR EINSLRRQLD
810 820 830 840 850
AAHKELDEVG RSREIAFKEN RRLQDDLATM ARENQEISLE LEAAVQEKEE
860 870 880 890 900
MKSRVHKYIT EVSRWESLMA AKEKENQDLL DRFQMLHNRA EDWEVKAHQA
910 920 930 940 950
EGESSSVRLE LLSIDTERRH LRERVELLEK EIQEHINAHH AYESQISSMA
960 970 980 990 1000
KAMSRLEEEL RHQEDEKATV LNDLSSLREL CIKLDSGKDI MTQQLNSKNL
1010 1020 1030 1040 1050
EFERVVVELE NVKSESDLLK KQLSNERHTV KNLESLLATN RDKEFHSHLT
1060 1070 1080 1090 1100
SHEKDTEIQL LKEKLTLSES KLTSQSRENT MLRAKVAQLQ TDYDALKRQI
1110 1120 1130 1140
STERYERERA IQEMRRHGLA TPPLSSTLRS PSHSPEHRNV
Sequence cautioni
The sequence AAH12003 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 336 | V → L in BAA31610 (PubMed:9734811).Curated | 1 | |
Sequence conflicti | 509 | Q → R in AAH12003 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_057785 | 769 | I → L. Corresponds to variant dbSNP:rs3214045EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_012743 | 234 – 249 | IELRE…SVALD → VGFLFTCIVGIEIGML in isoform 2. 1 PublicationAdd BLAST | 16 | |
Alternative sequenceiVSP_012744 | 250 – 1140 | Missing in isoform 2. 1 PublicationAdd BLAST | 891 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK023683 mRNA No translation available. AC118280 Genomic DNA No translation available. AC110611 Genomic DNA No translation available. AC092627 Genomic DNA No translation available. BC012003 mRNA Translation: AAH12003.1 Sequence problems. BC136535 mRNA Translation: AAI36536.1 BC136536 mRNA Translation: AAI36537.1 AB014535 mRNA Translation: BAA31610.2 Sequence problems. BK005586 mRNA Translation: DAA05590.1 |
CCDSi | CCDS33986.1 [Q66GS9-1] |
RefSeqi | NP_079285.2, NM_025009.4 [Q66GS9-1] |
Genome annotation databases
Ensembli | ENST00000257287; ENSP00000257287; ENSG00000174799 [Q66GS9-1] ENST00000422247; ENSP00000412799; ENSG00000174799 [Q66GS9-2] |
GeneIDi | 9662 |
KEGGi | hsa:9662 |
UCSCi | uc003hbh.3, human [Q66GS9-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK023683 mRNA No translation available. AC118280 Genomic DNA No translation available. AC110611 Genomic DNA No translation available. AC092627 Genomic DNA No translation available. BC012003 mRNA Translation: AAH12003.1 Sequence problems. BC136535 mRNA Translation: AAI36536.1 BC136536 mRNA Translation: AAI36537.1 AB014535 mRNA Translation: BAA31610.2 Sequence problems. BK005586 mRNA Translation: DAA05590.1 |
CCDSi | CCDS33986.1 [Q66GS9-1] |
RefSeqi | NP_079285.2, NM_025009.4 [Q66GS9-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5FCN | X-ray | 1.80 | A/B | 82-144 | [»] | |
5NG4 | X-ray | 2.14 | A/B | 82-144 | [»] | |
SMRi | Q66GS9 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 115018, 175 interactors |
DIPi | DIP-50271N |
IntActi | Q66GS9, 184 interactors |
MINTi | Q66GS9 |
STRINGi | 9606.ENSP00000257287 |
Protein family/group databases
MoonDBi | Q66GS9, Predicted |
PTM databases
iPTMneti | Q66GS9 |
PhosphoSitePlusi | Q66GS9 |
Genetic variation databases
BioMutai | CEP135 |
DMDMi | 296434460 |
Proteomic databases
EPDi | Q66GS9 |
jPOSTi | Q66GS9 |
MassIVEi | Q66GS9 |
MaxQBi | Q66GS9 |
PaxDbi | Q66GS9 |
PeptideAtlasi | Q66GS9 |
PRIDEi | Q66GS9 |
ProteomicsDBi | 65948 [Q66GS9-1] 65949 [Q66GS9-2] |
Protocols and materials databases
Antibodypediai | 23978, 134 antibodies |
Genome annotation databases
Ensembli | ENST00000257287; ENSP00000257287; ENSG00000174799 [Q66GS9-1] ENST00000422247; ENSP00000412799; ENSG00000174799 [Q66GS9-2] |
GeneIDi | 9662 |
KEGGi | hsa:9662 |
UCSCi | uc003hbh.3, human [Q66GS9-1] |
Organism-specific databases
CTDi | 9662 |
DisGeNETi | 9662 |
GeneCardsi | CEP135 |
HGNCi | HGNC:29086, CEP135 |
HPAi | ENSG00000174799, Tissue enhanced (lymphoid) |
MalaCardsi | CEP135 |
MIMi | 611423, gene 614673, phenotype |
neXtProti | NX_Q66GS9 |
OpenTargetsi | ENSG00000174799 |
Orphaneti | 2512, Autosomal recessive primary microcephaly |
PharmGKBi | PA128394551 |
VEuPathDBi | HostDB:ENSG00000174799.10 |
HUGEi | Search... |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502QT27, Eukaryota |
GeneTreei | ENSGT00940000159453 |
HOGENOMi | CLU_1152849_0_0_1 |
InParanoidi | Q66GS9 |
OMAi | RSLDDYQ |
OrthoDBi | 1249457at2759 |
PhylomeDBi | Q66GS9 |
TreeFami | TF326518 |
Enzyme and pathway databases
PathwayCommonsi | Q66GS9 |
Reactomei | R-HSA-2565942, Regulation of PLK1 Activity at G2/M Transition R-HSA-380259, Loss of Nlp from mitotic centrosomes R-HSA-380270, Recruitment of mitotic centrosome proteins and complexes R-HSA-380284, Loss of proteins required for interphase microtubule organization from the centrosome R-HSA-380320, Recruitment of NuMA to mitotic centrosomes R-HSA-5620912, Anchoring of the basal body to the plasma membrane R-HSA-8854518, AURKA Activation by TPX2 |
Miscellaneous databases
BioGRID-ORCSi | 9662, 94 hits in 879 CRISPR screens |
ChiTaRSi | CEP135, human |
GeneWikii | CEP135 |
GenomeRNAii | 9662 |
Pharosi | Q66GS9, Tbio |
PROi | PR:Q66GS9 |
RNActi | Q66GS9, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000174799, Expressed in amniotic fluid and 207 other tissues |
Genevisiblei | Q66GS9, HS |
Family and domain databases
InterProi | View protein in InterPro IPR026732, Cep135 |
PANTHERi | PTHR23159:SF18, PTHR23159:SF18, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CP135_HUMAN | |
Accessioni | Q66GS9Primary (citable) accession number: Q66GS9 Secondary accession number(s): B2RMY0 Q9H8H7 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 1, 2005 |
Last sequence update: | May 18, 2010 | |
Last modified: | February 10, 2021 | |
This is version 152 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families - Human chromosome 4
Human chromosome 4: entries, gene names and cross-references to MIM