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Q8N960

- CE120_HUMAN

UniProt

Q8N960 - CE120_HUMAN

Protein

Centrosomal protein of 120 kDa

Gene

CEP120

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 91 (01 Oct 2014)
      Sequence version 2 (02 Sep 2008)
      Previous versions | rss
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    Functioni

    Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons during brain development. Also implicated in the migration and selfrenewal of neural progenitors. May play a role in centriole duplication during mitosis By similarity.By similarity

    GO - Biological processi

    1. astral microtubule organization Source: Ensembl
    2. cerebral cortex development Source: Ensembl
    3. interkinetic nuclear migration Source: Ensembl
    4. neurogenesis Source: Ensembl
    5. regulation of microtubule-based process Source: Ensembl
    6. regulation of protein localization Source: Ensembl

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Centrosomal protein of 120 kDa
    Short name:
    Cep120
    Alternative name(s):
    Coiled-coil domain-containing protein 100
    Gene namesi
    Name:CEP120
    Synonyms:CCDC100
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 5

    Organism-specific databases

    HGNCiHGNC:26690. CEP120.

    Subcellular locationi

    Cytoplasmcytoskeletonmicrotubule organizing centercentrosome By similarity
    Note: Regulates the localization of TACC3 to the centrosome in neural progenitors in vivo.By similarity

    GO - Cellular componenti

    1. centrosome Source: UniProtKB
    2. cytoplasm Source: UniProtKB-KW

    Keywords - Cellular componenti

    Cytoplasm, Cytoskeleton

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA164717857.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 986986Centrosomal protein of 120 kDaPRO_0000348262Add
    BLAST

    Proteomic databases

    MaxQBiQ8N960.
    PaxDbiQ8N960.
    PRIDEiQ8N960.

    Expressioni

    Gene expression databases

    ArrayExpressiQ8N960.
    BgeeiQ8N960.
    CleanExiHS_CEP120.
    GenevestigatoriQ8N960.

    Organism-specific databases

    HPAiHPA028823.

    Interactioni

    Subunit structurei

    Interacts with TACC2 and TACC3. Interacts with CCDC52.By similarity

    Protein-protein interaction databases

    BioGridi127486. 4 interactions.
    IntActiQ8N960. 3 interactions.
    MINTiMINT-7034560.
    STRINGi9606.ENSP00000303058.

    Structurei

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    4ICXX-ray2.70A/B/C1-151[»]
    ProteinModelPortaliQ8N960.
    SMRiQ8N960. Positions 527-561.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili669 – 925257Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the CEP120 family.Curated

    Keywords - Domaini

    Coiled coil

    Phylogenomic databases

    eggNOGiNOG140545.
    HOGENOMiHOG000007674.
    HOVERGENiHBG107643.
    InParanoidiQ8N960.
    KOiK16459.
    OMAiLKTQNEH.
    OrthoDBiEOG7353WK.
    PhylomeDBiQ8N960.
    TreeFamiTF329430.

    Family and domain databases

    Gene3Di2.60.40.150. 1 hit.
    InterProiIPR000008. C2_dom.
    IPR022136. DUF3668.
    [Graphical view]
    PfamiPF12416. DUF3668. 1 hit.
    [Graphical view]
    SMARTiSM00239. C2. 1 hit.
    [Graphical view]
    SUPFAMiSSF49562. SSF49562. 1 hit.

    Sequences (3)i

    Sequence statusi: Complete.

    This entry describes 3 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8N960-1) [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

    MVSKSDQLLI VVSILEGRHF PKRPKHMLVV EAKFDGEQLA TDPVDHTDQP    50
    EFATELAWEI DRKALHQHRL QRTPIKLQCF ALDPVTSAKE TIGYIVLDLR 100
    TAQETKQAPK WYQLLSNKYT KFKSEIQISI ALETDTKPPV DSFKAKGAPP 150
    RDGKVPAILA GLDPRDIVAV LNEEGGYHQI GPAEYCTDSF IMSVTIAFAT 200
    QLEQLIPCTM KLPERQPEFF FYYSLLGNDV TNEPFNDLIN PNFEPERASV 250
    RIRSSVEILR VYLALQSKLQ IHLCCGDQSL GSTEIPLTGL LKKGSTEINQ 300
    HPVTVEGAFT LDPPNRAKQK LAPIPVELAP TVGVSVALQR EGIDSQSLIE 350
    LKTQNEHEPE HSKKKVLTPI KEKTLTGPKS PTVSPVPSHN QSPPTKDDAT 400
    ESEVESLQYD KDTKPNPKAS SSVPASLAQL VTTSNASEVA SGQKIAVPAT 450
    SHHFCFSIDL RSIHALEIGF PINCILRYSY PFFGSAAPIM TNPPVEVRKN 500
    MEVFLPQSYC AFDFATMPHQ LQDTFLRIPL LVELWHKDKM SKDLLLGIAR 550
    IQLSNILSSE KTRFLGSNGE QCWRQTYSES VPVIAAQGSN NRIADLSYTV 600
    TLEDYGLVKM REIFISDSSQ GVSAVQQKPS SLPPAPCPSE IQTEPRETLE 650
    YKAALELEMW KEMQEDIFEN QLKQKELAHM QALAEEWKKR DRERESLVKK 700
    KVAEYTILEG KLQKTLIDLE KREQQLASVE SELQREKKEL QSERQRNLQE 750
    LQDSIRRAKE DCIHQVELER LKIKQLEEDK HRLQQQLNDA ENKYKILEKE 800
    FQQFKDQQNN KPEIRLQSEI NLLTLEKVEL ERKLESATKS KLHYKQQWGR 850
    ALKELARLKQ REQESQMARL KKQQEELEQM RLRYLAAEEK DTVKTERQEL 900
    LDIRNELNRL RQQEQKQYQD STEIASGKKD GPHGSVLEEG LDDYLTRLIE 950
    ERDTLMRTGV YNHEDRIISE LDRQIREILA KSNASN 986
    Length:986
    Mass (Da):112,640
    Last modified:September 2, 2008 - v2
    Checksum:i97B96A09962B0862
    GO
    Isoform 2 (identifier: Q8N960-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-26: Missing.

    Show »
    Length:960
    Mass (Da):109,643
    Checksum:i9958C5E336DE9906
    GO
    Isoform 3 (identifier: Q8N960-3) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         347-380: SLIELKTQNEHEPEHSKKKVLTPIKEKTLTGPKS → DAFWYSALDIIFPLFIFLFLVLDAIRKFANYEEK
         381-986: Missing.

    Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay. No experimental confirmation available.

    Show »
    Length:380
    Mass (Da):42,705
    Checksum:i02729EE7F437B46D
    GO

    Sequence cautioni

    The sequence BAC04155.1 differs from that shown. Reason: Erroneous initiation.
    The sequence CAH10561.1 differs from that shown. Reason: Erroneous initiation.

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti212 – 2121L → F in BAC04596. (PubMed:14702039)Curated
    Sequence conflicti246 – 2461E → G in BAC04596. (PubMed:14702039)Curated
    Sequence conflicti301 – 3011H → R in CAH10371. (PubMed:17974005)Curated
    Sequence conflicti785 – 7851Q → L in BAC04596. (PubMed:14702039)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti602 – 6021L → V.1 Publication
    Corresponds to variant rs6595440 [ dbSNP | Ensembl ].
    VAR_046126
    Natural varianti879 – 8791Q → H.
    Corresponds to variant rs1047437 [ dbSNP | Ensembl ].
    VAR_046127
    Natural varianti936 – 9361V → I.
    Corresponds to variant rs2303721 [ dbSNP | Ensembl ].
    VAR_046128
    Natural varianti947 – 9471R → H.
    Corresponds to variant rs2303720 [ dbSNP | Ensembl ].
    VAR_046129

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 2626Missing in isoform 2. 1 PublicationVSP_035123Add
    BLAST
    Alternative sequencei347 – 38034SLIEL…TGPKS → DAFWYSALDIIFPLFIFLFL VLDAIRKFANYEEK in isoform 3. 1 PublicationVSP_035124Add
    BLAST
    Alternative sequencei381 – 986606Missing in isoform 3. 1 PublicationVSP_035125Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC010369 Genomic DNA. No translation available.
    AC106792 Genomic DNA. No translation available.
    BC040527 mRNA. No translation available.
    AK093409 mRNA. Translation: BAC04155.1. Different initiation.
    AK095646 mRNA. Translation: BAC04596.1.
    AL833929 mRNA. Translation: CAD38785.2.
    BX648687 mRNA. Translation: CAH10561.1. Different initiation.
    CR627324 mRNA. Translation: CAH10371.1.
    CCDSiCCDS4134.2. [Q8N960-1]
    CCDS54890.1. [Q8N960-2]
    RefSeqiNP_001159698.1. NM_001166226.1. [Q8N960-2]
    NP_694955.2. NM_153223.3. [Q8N960-1]
    UniGeneiHs.483209.

    Genome annotation databases

    EnsembliENST00000306467; ENSP00000303058; ENSG00000168944. [Q8N960-1]
    ENST00000306481; ENSP00000307419; ENSG00000168944. [Q8N960-2]
    ENST00000328236; ENSP00000327504; ENSG00000168944. [Q8N960-1]
    ENST00000513565; ENSP00000422089; ENSG00000168944. [Q8N960-3]
    GeneIDi153241.
    KEGGihsa:153241.
    UCSCiuc003ktk.3. human. [Q8N960-1]

    Polymorphism databases

    DMDMi205696377.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AC010369 Genomic DNA. No translation available.
    AC106792 Genomic DNA. No translation available.
    BC040527 mRNA. No translation available.
    AK093409 mRNA. Translation: BAC04155.1 . Different initiation.
    AK095646 mRNA. Translation: BAC04596.1 .
    AL833929 mRNA. Translation: CAD38785.2 .
    BX648687 mRNA. Translation: CAH10561.1 . Different initiation.
    CR627324 mRNA. Translation: CAH10371.1 .
    CCDSi CCDS4134.2. [Q8N960-1 ]
    CCDS54890.1. [Q8N960-2 ]
    RefSeqi NP_001159698.1. NM_001166226.1. [Q8N960-2 ]
    NP_694955.2. NM_153223.3. [Q8N960-1 ]
    UniGenei Hs.483209.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    4ICX X-ray 2.70 A/B/C 1-151 [» ]
    ProteinModelPortali Q8N960.
    SMRi Q8N960. Positions 527-561.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 127486. 4 interactions.
    IntActi Q8N960. 3 interactions.
    MINTi MINT-7034560.
    STRINGi 9606.ENSP00000303058.

    Polymorphism databases

    DMDMi 205696377.

    Proteomic databases

    MaxQBi Q8N960.
    PaxDbi Q8N960.
    PRIDEi Q8N960.

    Protocols and materials databases

    DNASUi 153241.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000306467 ; ENSP00000303058 ; ENSG00000168944 . [Q8N960-1 ]
    ENST00000306481 ; ENSP00000307419 ; ENSG00000168944 . [Q8N960-2 ]
    ENST00000328236 ; ENSP00000327504 ; ENSG00000168944 . [Q8N960-1 ]
    ENST00000513565 ; ENSP00000422089 ; ENSG00000168944 . [Q8N960-3 ]
    GeneIDi 153241.
    KEGGi hsa:153241.
    UCSCi uc003ktk.3. human. [Q8N960-1 ]

    Organism-specific databases

    CTDi 153241.
    GeneCardsi GC05M122708.
    HGNCi HGNC:26690. CEP120.
    HPAi HPA028823.
    MIMi 613446. gene.
    neXtProti NX_Q8N960.
    PharmGKBi PA164717857.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG140545.
    HOGENOMi HOG000007674.
    HOVERGENi HBG107643.
    InParanoidi Q8N960.
    KOi K16459.
    OMAi LKTQNEH.
    OrthoDBi EOG7353WK.
    PhylomeDBi Q8N960.
    TreeFami TF329430.

    Miscellaneous databases

    GeneWikii CEP120.
    GenomeRNAii 153241.
    NextBioi 87092.
    PROi Q8N960.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q8N960.
    Bgeei Q8N960.
    CleanExi HS_CEP120.
    Genevestigatori Q8N960.

    Family and domain databases

    Gene3Di 2.60.40.150. 1 hit.
    InterProi IPR000008. C2_dom.
    IPR022136. DUF3668.
    [Graphical view ]
    Pfami PF12416. DUF3668. 1 hit.
    [Graphical view ]
    SMARTi SM00239. C2. 1 hit.
    [Graphical view ]
    SUPFAMi SSF49562. SSF49562. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. "The DNA sequence and comparative analysis of human chromosome 5."
      Schmutz J., Martin J., Terry A., Couronne O., Grimwood J., Lowry S., Gordon L.A., Scott D., Xie G., Huang W., Hellsten U., Tran-Gyamfi M., She X., Prabhakar S., Aerts A., Altherr M., Bajorek E., Black S.
      , Branscomb E., Caoile C., Challacombe J.F., Chan Y.M., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Glavina T., Gomez M., Gonzales E., Goodstein D., Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Lopez F., Lou Y., Martinez D., Medina C., Morgan J., Nandkeshwar R., Noonan J.P., Pitluck S., Pollard M., Predki P., Priest J., Ramirez L., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wheeler J., Wu K., Yang J., Dickson M., Cheng J.-F., Eichler E.E., Olsen A., Pennacchio L.A., Rokhsar D.S., Richardson P., Lucas S.M., Myers R.M., Rubin E.M.
      Nature 431:268-274(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    2. "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 3).
      Tissue: Testis.
    3. "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] OF 1-870 (ISOFORM 2), NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 401-986 (ISOFORMS 1/2), VARIANT VAL-602.
      Tissue: Brain and Testis.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 154-346 AND 498-986 (ISOFORMS 1/2).
      Tissue: Salivary gland and Testis.

    Entry informationi

    Entry nameiCE120_HUMAN
    AccessioniPrimary (citable) accession number: Q8N960
    Secondary accession number(s): Q6AI52
    , Q6AW89, Q8IWB5, Q8N9Y0, Q8NDE8
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: September 2, 2008
    Last sequence update: September 2, 2008
    Last modified: October 1, 2014
    This is version 91 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

    3D-structure, Complete proteome, Reference proteome

    Documents

    1. Human chromosome 5
      Human chromosome 5: 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. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3