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Q8N960

- CE120_HUMAN

UniProt

Q8N960 - CE120_HUMAN

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Protein
Centrosomal protein of 120 kDa
Gene
CEP120, CCDC100
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.

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 kDa
PRO_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 By similarity. 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.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili669 – 925257 Reviewed prediction
Add
BLAST

Sequence similaritiesi

Belongs to the CEP120 family.

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.

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.
VSP_035123Add
BLAST
Alternative sequencei347 – 38034SLIEL…TGPKS → DAFWYSALDIIFPLFIFLFL VLDAIRKFANYEEK in isoform 3.
VSP_035124Add
BLAST
Alternative sequencei381 – 986606Missing in isoform 3.
VSP_035125Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti212 – 2121L → F in BAC04596. 1 Publication
Sequence conflicti246 – 2461E → G in BAC04596. 1 Publication
Sequence conflicti301 – 3011H → R in CAH10371. 1 Publication
Sequence conflicti785 – 7851Q → L in BAC04596. 1 Publication

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]
ENST00000395431; ENSP00000378819; ENSG00000168944. [Q8N960-3]
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...

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 ]
ENST00000395431 ; ENSP00000378819 ; ENSG00000168944 . [Q8N960-3 ]
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: September 3, 2014
This is version 90 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

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