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Q66GS9

- CP135_HUMAN

UniProt

Q66GS9 - CP135_HUMAN

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Protein

Centrosomal protein of 135 kDa

Gene

CEP135

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole.2 Publications

GO - Molecular functioni

  1. protein C-terminus binding Source: UniProtKB

GO - Biological processi

  1. centriole-centriole cohesion Source: UniProtKB
  2. centriole replication Source: UniProtKB
  3. G2/M transition of mitotic cell cycle Source: Reactome
  4. mitotic cell cycle Source: Reactome
Complete GO annotation...

Enzyme and pathway databases

ReactomeiREACT_15296. Recruitment of mitotic centrosome proteins and complexes.
REACT_15364. Loss of Nlp from mitotic centrosomes.
REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 4

Organism-specific databases

HGNCiHGNC:29086. CEP135.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole 2 Publications
Note: During centriole biogenesis, it is concentrated within the proximal lumen of both parental centrioles and procentrioles.

GO - Cellular componenti

  1. centriole Source: UniProtKB
  2. centrosome Source: UniProtKB
  3. cytosol Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Microcephaly 8, primary, autosomal recessive (MCPH8) [MIM:614673]: A 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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Mental retardation, Primary microcephaly

Organism-specific databases

MIMi614673. phenotype.
Orphaneti2512. Autosomal recessive primary microcephaly.
PharmGKBiPA128394551.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11401140Centrosomal protein of 135 kDaPRO_0000089491Add
BLAST

Proteomic databases

MaxQBiQ66GS9.
PaxDbiQ66GS9.
PRIDEiQ66GS9.

PTM databases

PhosphoSiteiQ66GS9.

Expressioni

Gene expression databases

BgeeiQ66GS9.
CleanExiHS_CEP135.
GenevestigatoriQ66GS9.

Interactioni

Subunit structurei

Interacts with DCTN2 (By similarity). Interacts with CEP250.By similarity1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CENPJQ9HC778EBI-1046993,EBI-946194
SASS6Q6UVJ08EBI-1046993,EBI-1570153

Protein-protein interaction databases

BioGridi115018. 9 interactions.
IntActiQ66GS9. 9 interactions.
MINTiMINT-1200560.
STRINGi9606.ENSP00000257287.

Structurei

3D structure databases

ProteinModelPortaliQ66GS9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili71 – 15282Sequence AnalysisAdd
BLAST
Coiled coili195 – 420226Sequence AnalysisAdd
BLAST
Coiled coili447 – 1039593Sequence AnalysisAdd
BLAST
Coiled coili1069 – 111648Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the CEP135/TSGA10 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG149145.
GeneTreeiENSGT00530000063949.
HOGENOMiHOG000060077.
HOVERGENiHBG081318.
InParanoidiQ66GS9.
KOiK16461.
OMAiDKEFHSH.
OrthoDBiEOG7KSX7N.
PhylomeDBiQ66GS9.
TreeFamiTF326518.

Family and domain databases

InterProiIPR026732. Cep135.
[Graphical view]
PANTHERiPTHR23159:SF10. PTHR23159:SF10. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

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 AAH12003.1 differs from that shown. Reason: Contaminating sequence. Potential poly-A sequence.Curated
The sequence BAA31610.2 differs from that shown. Reason: Intron retention.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti336 – 3361V → L in BAA31610. (PubMed:9734811)Curated
Sequence conflicti509 – 5091Q → R in AAH12003. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti769 – 7691I → L.
Corresponds to variant rs3214045 [ dbSNP | Ensembl ].
VAR_057785

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei234 – 24916IELRE…SVALD → VGFLFTCIVGIEIGML in isoform 2. 1 PublicationVSP_012743Add
BLAST
Alternative sequencei250 – 1140891Missing in isoform 2. 1 PublicationVSP_012744Add
BLAST

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.2. human. [Q66GS9-2]
uc003hbi.4. human. [Q66GS9-1]

Polymorphism databases

DMDMi296434460.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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 ]
UniGenei Hs.518767.

3D structure databases

ProteinModelPortali Q66GS9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 115018. 9 interactions.
IntActi Q66GS9. 9 interactions.
MINTi MINT-1200560.
STRINGi 9606.ENSP00000257287.

PTM databases

PhosphoSitei Q66GS9.

Polymorphism databases

DMDMi 296434460.

Proteomic databases

MaxQBi Q66GS9.
PaxDbi Q66GS9.
PRIDEi Q66GS9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000257287 ; ENSP00000257287 ; ENSG00000174799 . [Q66GS9-1 ]
ENST00000422247 ; ENSP00000412799 ; ENSG00000174799 . [Q66GS9-2 ]
GeneIDi 9662.
KEGGi hsa:9662.
UCSCi uc003hbh.2. human. [Q66GS9-2 ]
uc003hbi.4. human. [Q66GS9-1 ]

Organism-specific databases

CTDi 9662.
GeneCardsi GC04P056815.
GeneReviewsi CEP135.
H-InvDB HIX0019826.
HGNCi HGNC:29086. CEP135.
MIMi 611423. gene.
614673. phenotype.
neXtProti NX_Q66GS9.
Orphaneti 2512. Autosomal recessive primary microcephaly.
PharmGKBi PA128394551.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG149145.
GeneTreei ENSGT00530000063949.
HOGENOMi HOG000060077.
HOVERGENi HBG081318.
InParanoidi Q66GS9.
KOi K16461.
OMAi DKEFHSH.
OrthoDBi EOG7KSX7N.
PhylomeDBi Q66GS9.
TreeFami TF326518.

Enzyme and pathway databases

Reactomei REACT_15296. Recruitment of mitotic centrosome proteins and complexes.
REACT_15364. Loss of Nlp from mitotic centrosomes.
REACT_15451. Loss of proteins required for interphase microtubule organization from the centrosome.
REACT_160315. Regulation of PLK1 Activity at G2/M Transition.

Miscellaneous databases

ChiTaRSi CEP135. human.
GeneWikii CEP135.
GenomeRNAii 9662.
NextBioi 36283.
PROi Q66GS9.
SOURCEi Search...

Gene expression databases

Bgeei Q66GS9.
CleanExi HS_CEP135.
Genevestigatori Q66GS9.

Family and domain databases

InterProi IPR026732. Cep135.
[Graphical view ]
PANTHERi PTHR23159:SF10. PTHR23159:SF10. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Placenta.
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
    Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
    , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
    Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Testis.
  4. "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."
    Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.
    DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 277-1140 (ISOFORM 1).
    Tissue: Brain.
  5. "Proteomic characterization of the human centrosome by protein correlation profiling."
    Andersen J.S., Wilkinson C.J., Mayor T., Mortensen P., Nigg E.A., Mann M.
    Nature 426:570-574(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION (ISOFORM 1), SUBCELLULAR LOCATION [LARGE SCALE ANALYSIS].
    Tissue: Lymphoblast.
  6. Cited for: FUNCTION, SUBCELLULAR LOCATION.
  7. "A novel function of CEP135 as a platform protein of C-NAP1 for its centriolar localization."
    Kim K., Lee S., Chang J., Rhee K.
    Exp. Cell Res. 314:3692-3700(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH CEP250.
  8. Cited for: INVOLVEMENT IN MCPH8.

Entry informationi

Entry nameiCP135_HUMAN
AccessioniPrimary (citable) accession number: Q66GS9
Secondary accession number(s): B2RMY0
, O75130, Q58F25, Q9H8H7
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 1, 2005
Last sequence update: May 18, 2010
Last modified: November 26, 2014
This is version 104 of the entry and version 2 of the sequence. [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

Complete proteome, Reference proteome

Documents

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

External Data

Dasty 3