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UniProtKB - Q66GS9 (CP135_HUMAN)

Protein

Centrosomal protein of 135 kDa

Gene

CEP135

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in early centriole assembly/duplication/biogenesis/formation/. Required for centriole elongation. 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.1 Publication
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
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Enzyme and pathway databases

ReactomeiR-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

MoonDBiQ66GS9 Predicted

Names & Taxonomyi

Protein namesi
Recommended name:
Centrosomal protein of 135 kDa
Short name:
Cep135
Alternative name(s):
Centrosomal protein 4
Gene namesi
Name:CEP135
Synonyms:CEP4, KIAA0635
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000174799.10
HGNCiHGNC:29086 CEP135
MIMi611423 gene
neXtProtiNX_Q66GS9

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Microcephaly 8, primary, autosomal recessive (MCPH8)1 Publication
The disease is caused by mutations 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.
See also OMIM:614673

Keywords - Diseasei

Mental retardation, Primary microcephaly

Organism-specific databases

DisGeNETi9662
GeneReviewsiCEP135
MalaCardsiCEP135
MIMi614673 phenotype
OpenTargetsiENSG00000174799
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA128394551

Polymorphism and mutation databases

BioMutaiCEP135
DMDMi296434460

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000894911 – 1140Centrosomal protein of 135 kDaAdd BLAST1140

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei383PhosphoserineCombined sources1
Modified residuei439PhosphoserineCombined sources1
Modified residuei688PhosphoserineCombined sources1
Modified residuei1121PhosphothreonineCombined sources1
Modified residuei1130PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ66GS9
MaxQBiQ66GS9
PaxDbiQ66GS9
PeptideAtlasiQ66GS9
PRIDEiQ66GS9
ProteomicsDBi65948
65949 [Q66GS9-2]

PTM databases

iPTMnetiQ66GS9
PhosphoSitePlusiQ66GS9

Expressioni

Gene expression databases

BgeeiENSG00000174799 Expressed in 190 organ(s), highest expression level in amniotic fluid
CleanExiHS_CEP135
GenevisibleiQ66GS9 HS

Organism-specific databases

HPAiHPA073950

Interactioni

Subunit structurei

Interacts with DCTN2 (By similarity). Interacts with CEP250 (PubMed:18851962).By similarity1 Publication

Binary interactionsi

GO - Molecular functioni

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridi115018, 171 interactors
DIPiDIP-50271N
IntActiQ66GS9, 175 interactors
MINTiQ66GS9
STRINGi9606.ENSP00000257287

Structurei

Secondary structure

11140
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ66GS9
SMRiQ66GS9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili71 – 152Sequence analysisAdd BLAST82
Coiled coili195 – 420Sequence analysisAdd BLAST226
Coiled coili447 – 1039Sequence analysisAdd BLAST593
Coiled coili1069 – 1116Sequence analysisAdd BLAST48

Sequence similaritiesi

Belongs to the CEP135/TSGA10 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IGCA Eukaryota
ENOG410XRIP LUCA
GeneTreeiENSGT00530000063949
HOGENOMiHOG000060077
HOVERGENiHBG081318
InParanoidiQ66GS9
KOiK16461
OMAiQHIIQRR
OrthoDBiEOG091G032W
PhylomeDBiQ66GS9
TreeFamiTF326518

Family and domain databases

InterProiView protein in InterPro
IPR026732 Cep135
PANTHERiPTHR23159:SF18 PTHR23159:SF18, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q66GS9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:1,140
Mass (Da):133,490
Last modified:May 18, 2010 - v2
Checksum:iAD56754BEBB3AA5B
GO
Isoform 2 (identifier: Q66GS9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     234-249: IELREREIERLSVALD → VGFLFTCIVGIEIGML
     250-1140: Missing.

Show »
Length:249
Mass (Da):28,910
Checksum:iAF105D24D36AE103
GO

Sequence cautioni

The sequence AAH12003 differs from that shown. Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA31610 differs from that shown. Intron retention.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti336V → L in BAA31610 (PubMed:9734811).Curated1
Sequence conflicti509Q → R in AAH12003 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_057785769I → L. Corresponds to variant dbSNP:rs3214045EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_012743234 – 249IELRE…SVALD → VGFLFTCIVGIEIGML in isoform 2. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_012744250 – 1140Missing in isoform 2. 1 PublicationAdd BLAST891

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
CCDSiCCDS33986.1 [Q66GS9-1]
RefSeqiNP_079285.2, NM_025009.4 [Q66GS9-1]
UniGeneiHs.518767

Genome annotation databases

EnsembliENST00000257287; ENSP00000257287; ENSG00000174799 [Q66GS9-1]
ENST00000422247; ENSP00000412799; ENSG00000174799 [Q66GS9-2]
GeneIDi9662
KEGGihsa:9662
UCSCiuc003hbh.3 human [Q66GS9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS33986.1 [Q66GS9-1]
RefSeqiNP_079285.2, NM_025009.4 [Q66GS9-1]
UniGeneiHs.518767

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5FCNX-ray1.80A/B82-144[»]
5NG4X-ray2.14A/B82-144[»]
ProteinModelPortaliQ66GS9
SMRiQ66GS9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115018, 171 interactors
DIPiDIP-50271N
IntActiQ66GS9, 175 interactors
MINTiQ66GS9
STRINGi9606.ENSP00000257287

Protein family/group databases

MoonDBiQ66GS9 Predicted

PTM databases

iPTMnetiQ66GS9
PhosphoSitePlusiQ66GS9

Polymorphism and mutation databases

BioMutaiCEP135
DMDMi296434460

Proteomic databases

EPDiQ66GS9
MaxQBiQ66GS9
PaxDbiQ66GS9
PeptideAtlasiQ66GS9
PRIDEiQ66GS9
ProteomicsDBi65948
65949 [Q66GS9-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000257287; ENSP00000257287; ENSG00000174799 [Q66GS9-1]
ENST00000422247; ENSP00000412799; ENSG00000174799 [Q66GS9-2]
GeneIDi9662
KEGGihsa:9662
UCSCiuc003hbh.3 human [Q66GS9-1]

Organism-specific databases

CTDi9662
DisGeNETi9662
EuPathDBiHostDB:ENSG00000174799.10
GeneCardsiCEP135
GeneReviewsiCEP135
H-InvDBiHIX0019826
HGNCiHGNC:29086 CEP135
HPAiHPA073950
MalaCardsiCEP135
MIMi611423 gene
614673 phenotype
neXtProtiNX_Q66GS9
OpenTargetsiENSG00000174799
Orphaneti2512 Autosomal recessive primary microcephaly
PharmGKBiPA128394551
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IGCA Eukaryota
ENOG410XRIP LUCA
GeneTreeiENSGT00530000063949
HOGENOMiHOG000060077
HOVERGENiHBG081318
InParanoidiQ66GS9
KOiK16461
OMAiQHIIQRR
OrthoDBiEOG091G032W
PhylomeDBiQ66GS9
TreeFamiTF326518

Enzyme and pathway databases

ReactomeiR-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

ChiTaRSiCEP135 human
GeneWikiiCEP135
GenomeRNAii9662
PROiPR:Q66GS9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000174799 Expressed in 190 organ(s), highest expression level in amniotic fluid
CleanExiHS_CEP135
GenevisibleiQ66GS9 HS

Family and domain databases

InterProiView protein in InterPro
IPR026732 Cep135
PANTHERiPTHR23159:SF18 PTHR23159:SF18, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCP135_HUMAN
AccessioniPrimary (citable) accession number: Q66GS9
Secondary accession number(s): B2RMY0
, O75130, Q58F25, Q9H8H7
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 137 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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