Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Basket 0
(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Q66GS9

- CP135_HUMAN

UniProt

Q66GS9 - CP135_HUMAN

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
    • BLAST
    • Align
    • Format
    • Add to basket
    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
    • Help video
    • Feedback
    • Comment

    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 binding Source: IntAct
    2. 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

    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

    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. 7 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.
    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

    MTTAVERKYI NIRKRLDQLG YRQTLTVECL PLVEKLFSDL VHTTESLRQS     50
    KLSAVKAEKE SANFDFVLEP YKLENARLSR ENNELYLELM KLREHSDQHV 100
    KELKTSLKKC ARETADLKFL NNQYAHKLKL LEKESKAKNE RIQQLQEKNL 150
    HAVVQTPGGK KRSIAFRRQR MQIDEPVPPS EVSSYPVPQP DDPYIADLLQ 200
    VADNRIQELQ QEVHQLQEKL AMMESGVRDY SKQIELRERE IERLSVALDG 250
    GRSPDVLSLE SRNKTNEKLI AHLNIQVDFL QQANKDLEKR IRELMETKET 300
    VTSEVVNLSN KNEKLCQELT EIDQLAQQLE RHKEEVLETA DKELGEAKKE 350
    IKRKLSEMQD LEETMAKLQL ELNLCQKEKE RLSDELLVKS DLETVVHQLE 400
    QEKQRLSKKV ESFAVTERQL TLEVERMRLE HGIKRRDRSP SRLDTFLKGI 450
    EEERDYYKKE LERLQHIIQR RSCSTSYSAR EKSSIFRTPE KGDYNSEIHQ 500
    ITRERDELQR MLERFEKYME DIQSNVKLLT AERDKLSVLY NEAQEELSAL 550
    RKESTQTTAP HNIVSLMEKE KELALSDLRR IMAEKEALRE KLEHIEEVSL 600
    FGKSELEKTI EHLTCVNHQL ESEKYELKSK VLIMKETIES LENKLKVQAQ 650
    KFSHVAGDSS HQKTEVNSLR IVNEQLQRSV DDYQHRLSIK RGELESAQAQ 700
    IKILEEKIDE LNLKMTSQDE EAHVMKKTIG VIDKEKDFLQ ETVDEKTEKI 750
    ANLQENLANK EKAVAQMKIM ISECESSVNQ LKETLVNRDR EINSLRRQLD 800
    AAHKELDEVG RSREIAFKEN RRLQDDLATM ARENQEISLE LEAAVQEKEE 850
    MKSRVHKYIT EVSRWESLMA AKEKENQDLL DRFQMLHNRA EDWEVKAHQA 900
    EGESSSVRLE LLSIDTERRH LRERVELLEK EIQEHINAHH AYESQISSMA 950
    KAMSRLEEEL RHQEDEKATV LNDLSSLREL CIKLDSGKDI MTQQLNSKNL 1000
    EFERVVVELE NVKSESDLLK KQLSNERHTV KNLESLLATN RDKEFHSHLT 1050
    SHEKDTEIQL LKEKLTLSES KLTSQSRENT MLRAKVAQLQ TDYDALKRQI 1100
    STERYERERA IQEMRRHGLA TPPLSSTLRS PSHSPEHRNV 1140
    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.
    The sequence BAA31610.2 differs from that shown. Reason: Intron retention.

    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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. 7 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.
    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

    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

    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: October 1, 2014
    This is version 102 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