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Q8N960

- CE120_HUMAN

UniProt

Q8N960 - CE120_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

BgeeiQ8N960.
CleanExiHS_CEP120.
ExpressionAtlasiQ8N960. baseline and differential.
GenevestigatoriQ8N960.

Organism-specific databases

HPAiHPA028823.

Interactioni

Subunit structurei

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

Protein-protein interaction databases

BioGridi127486. 6 interactions.
IntActiQ8N960. 3 interactions.
MINTiMINT-7034560.
STRINGi9606.ENSP00000303058.

Structurei

Secondary structure

1
986
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi4 – 63Combined sources
Beta strandi7 – 1913Combined sources
Beta strandi27 – 348Combined sources
Beta strandi37 – 404Combined sources
Beta strandi47 – 493Combined sources
Beta strandi51 – 6111Combined sources
Helixi62 – 7110Combined sources
Beta strandi75 – 828Combined sources
Turni84 – 863Combined sources
Beta strandi89 – 979Combined sources
Beta strandi110 – 1134Combined sources
Beta strandi125 – 13410Combined sources

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4ICWX-ray2.20A1-151[»]
4ICXX-ray2.70A/B/C1-151[»]
ProteinModelPortaliQ8N960.
SMRiQ8N960. Positions 3-135, 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.
GeneTreeiENSGT00390000009378.
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

        10         20         30         40         50
MVSKSDQLLI VVSILEGRHF PKRPKHMLVV EAKFDGEQLA TDPVDHTDQP
60 70 80 90 100
EFATELAWEI DRKALHQHRL QRTPIKLQCF ALDPVTSAKE TIGYIVLDLR
110 120 130 140 150
TAQETKQAPK WYQLLSNKYT KFKSEIQISI ALETDTKPPV DSFKAKGAPP
160 170 180 190 200
RDGKVPAILA GLDPRDIVAV LNEEGGYHQI GPAEYCTDSF IMSVTIAFAT
210 220 230 240 250
QLEQLIPCTM KLPERQPEFF FYYSLLGNDV TNEPFNDLIN PNFEPERASV
260 270 280 290 300
RIRSSVEILR VYLALQSKLQ IHLCCGDQSL GSTEIPLTGL LKKGSTEINQ
310 320 330 340 350
HPVTVEGAFT LDPPNRAKQK LAPIPVELAP TVGVSVALQR EGIDSQSLIE
360 370 380 390 400
LKTQNEHEPE HSKKKVLTPI KEKTLTGPKS PTVSPVPSHN QSPPTKDDAT
410 420 430 440 450
ESEVESLQYD KDTKPNPKAS SSVPASLAQL VTTSNASEVA SGQKIAVPAT
460 470 480 490 500
SHHFCFSIDL RSIHALEIGF PINCILRYSY PFFGSAAPIM TNPPVEVRKN
510 520 530 540 550
MEVFLPQSYC AFDFATMPHQ LQDTFLRIPL LVELWHKDKM SKDLLLGIAR
560 570 580 590 600
IQLSNILSSE KTRFLGSNGE QCWRQTYSES VPVIAAQGSN NRIADLSYTV
610 620 630 640 650
TLEDYGLVKM REIFISDSSQ GVSAVQQKPS SLPPAPCPSE IQTEPRETLE
660 670 680 690 700
YKAALELEMW KEMQEDIFEN QLKQKELAHM QALAEEWKKR DRERESLVKK
710 720 730 740 750
KVAEYTILEG KLQKTLIDLE KREQQLASVE SELQREKKEL QSERQRNLQE
760 770 780 790 800
LQDSIRRAKE DCIHQVELER LKIKQLEEDK HRLQQQLNDA ENKYKILEKE
810 820 830 840 850
FQQFKDQQNN KPEIRLQSEI NLLTLEKVEL ERKLESATKS KLHYKQQWGR
860 870 880 890 900
ALKELARLKQ REQESQMARL KKQQEELEQM RLRYLAAEEK DTVKTERQEL
910 920 930 940 950
LDIRNELNRL RQQEQKQYQD STEIASGKKD GPHGSVLEEG LDDYLTRLIE
960 970 980
ERDTLMRTGV YNHEDRIISE LDRQIREILA KSNASN
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
4ICW X-ray 2.20 A 1-151 [» ]
4ICX X-ray 2.70 A/B/C 1-151 [» ]
ProteinModelPortali Q8N960.
SMRi Q8N960. Positions 3-135, 527-561.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 127486. 6 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.
GeneTreei ENSGT00390000009378.
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

Bgeei Q8N960.
CleanExi HS_CEP120.
ExpressionAtlasi Q8N960. baseline and differential.
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 29, 2014
This is version 92 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