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Q8N960 (CE120_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified March 19, 2014. Version 85. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Centrosomal protein of 120 kDa

Short name=Cep120
Alternative name(s):
Coiled-coil domain-containing protein 100
Gene names
Name:CEP120
Synonyms:CCDC100
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length986 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

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

Sequence similarities

Belongs to the CEP120 family.

Sequence caution

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

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

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8N960-1)

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.
Isoform 2 (identifier: Q8N960-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-26: Missing.
Isoform 3 (identifier: Q8N960-3)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 986986Centrosomal protein of 120 kDa
PRO_0000348262

Regions

Coiled coil669 – 925257 Potential

Natural variations

Alternative sequence1 – 2626Missing in isoform 2.
VSP_035123
Alternative sequence347 – 38034SLIEL…TGPKS → DAFWYSALDIIFPLFIFLFL VLDAIRKFANYEEK in isoform 3.
VSP_035124
Alternative sequence381 – 986606Missing in isoform 3.
VSP_035125
Natural variant6021L → V. Ref.3
Corresponds to variant rs6595440 [ dbSNP | Ensembl ].
VAR_046126
Natural variant8791Q → H.
Corresponds to variant rs1047437 [ dbSNP | Ensembl ].
VAR_046127
Natural variant9361V → I.
Corresponds to variant rs2303721 [ dbSNP | Ensembl ].
VAR_046128
Natural variant9471R → H.
Corresponds to variant rs2303720 [ dbSNP | Ensembl ].
VAR_046129

Experimental info

Sequence conflict2121L → F in BAC04596. Ref.3
Sequence conflict2461E → G in BAC04596. Ref.3
Sequence conflict3011H → R in CAH10371. Ref.4
Sequence conflict7851Q → L in BAC04596. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified September 2, 2008. Version 2.
Checksum: 97B96A09962B0862

FASTA986112,640
        10         20         30         40         50         60 
MVSKSDQLLI VVSILEGRHF PKRPKHMLVV EAKFDGEQLA TDPVDHTDQP EFATELAWEI 

        70         80         90        100        110        120 
DRKALHQHRL QRTPIKLQCF ALDPVTSAKE TIGYIVLDLR TAQETKQAPK WYQLLSNKYT 

       130        140        150        160        170        180 
KFKSEIQISI ALETDTKPPV DSFKAKGAPP RDGKVPAILA GLDPRDIVAV LNEEGGYHQI 

       190        200        210        220        230        240 
GPAEYCTDSF IMSVTIAFAT QLEQLIPCTM KLPERQPEFF FYYSLLGNDV TNEPFNDLIN 

       250        260        270        280        290        300 
PNFEPERASV RIRSSVEILR VYLALQSKLQ IHLCCGDQSL GSTEIPLTGL LKKGSTEINQ 

       310        320        330        340        350        360 
HPVTVEGAFT LDPPNRAKQK LAPIPVELAP TVGVSVALQR EGIDSQSLIE LKTQNEHEPE 

       370        380        390        400        410        420 
HSKKKVLTPI KEKTLTGPKS PTVSPVPSHN QSPPTKDDAT ESEVESLQYD KDTKPNPKAS 

       430        440        450        460        470        480 
SSVPASLAQL VTTSNASEVA SGQKIAVPAT SHHFCFSIDL RSIHALEIGF PINCILRYSY 

       490        500        510        520        530        540 
PFFGSAAPIM TNPPVEVRKN MEVFLPQSYC AFDFATMPHQ LQDTFLRIPL LVELWHKDKM 

       550        560        570        580        590        600 
SKDLLLGIAR IQLSNILSSE KTRFLGSNGE QCWRQTYSES VPVIAAQGSN NRIADLSYTV 

       610        620        630        640        650        660 
TLEDYGLVKM REIFISDSSQ GVSAVQQKPS SLPPAPCPSE IQTEPRETLE YKAALELEMW 

       670        680        690        700        710        720 
KEMQEDIFEN QLKQKELAHM QALAEEWKKR DRERESLVKK KVAEYTILEG KLQKTLIDLE 

       730        740        750        760        770        780 
KREQQLASVE SELQREKKEL QSERQRNLQE LQDSIRRAKE DCIHQVELER LKIKQLEEDK 

       790        800        810        820        830        840 
HRLQQQLNDA ENKYKILEKE FQQFKDQQNN KPEIRLQSEI NLLTLEKVEL ERKLESATKS 

       850        860        870        880        890        900 
KLHYKQQWGR ALKELARLKQ REQESQMARL KKQQEELEQM RLRYLAAEEK DTVKTERQEL 

       910        920        930        940        950        960 
LDIRNELNRL RQQEQKQYQD STEIASGKKD GPHGSVLEEG LDDYLTRLIE ERDTLMRTGV 

       970        980 
YNHEDRIISE LDRQIREILA KSNASN 

« Hide

Isoform 2 [UniParc].

Checksum: 9958C5E336DE9906
Show »

FASTA960109,643
Isoform 3 [UniParc].

Checksum: 02729EE7F437B46D
Show »

FASTA38042,705

References

[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. expand/collapse author list , 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. expand/collapse author list , 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]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 154-346 AND 498-986 (ISOFORMS 1/2).
Tissue: Salivary gland and Testis.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001159698.1. NM_001166226.1.
NP_694955.2. NM_153223.3.
XP_005271957.1. XM_005271900.1.
UniGeneHs.483209.

3D structure databases

ProteinModelPortalQ8N960.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid127486. 4 interactions.
IntActQ8N960. 2 interactions.
MINTMINT-7034560.
STRING9606.ENSP00000303058.

Polymorphism databases

DMDM205696377.

Proteomic databases

PaxDbQ8N960.
PRIDEQ8N960.

Protocols and materials databases

DNASU153241.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000306467; ENSP00000303058; ENSG00000168944. [Q8N960-1]
ENST00000306481; ENSP00000307419; ENSG00000168944. [Q8N960-2]
ENST00000328236; ENSP00000327504; ENSG00000168944. [Q8N960-1]
ENST00000395431; ENSP00000378819; ENSG00000168944. [Q8N960-3]
ENST00000513565; ENSP00000422089; ENSG00000168944. [Q8N960-3]
GeneID153241.
KEGGhsa:153241.
UCSCuc003ktk.3. human. [Q8N960-1]

Organism-specific databases

CTD153241.
GeneCardsGC05M122708.
HGNCHGNC:26690. CEP120.
HPAHPA028823.
MIM613446. gene.
neXtProtNX_Q8N960.
PharmGKBPA164717857.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG140545.
HOGENOMHOG000007674.
HOVERGENHBG107643.
InParanoidQ8N960.
KOK16459.
OMALKTQNEH.
OrthoDBEOG7353WK.
TreeFamTF329430.

Gene expression databases

ArrayExpressQ8N960.
BgeeQ8N960.
CleanExHS_CEP120.
GenevestigatorQ8N960.

Family and domain databases

InterProIPR000008. C2_dom.
IPR022136. DUF3668.
[Graphical view]
PfamPF12416. DUF3668. 1 hit.
[Graphical view]
SMARTSM00239. C2. 1 hit.
[Graphical view]
SUPFAMSSF49562. SSF49562. 1 hit.
ProtoNetSearch...

Other

GeneWikiCEP120.
GenomeRNAi153241.
NextBio87092.
PROQ8N960.
SOURCESearch...

Entry information

Entry nameCE120_HUMAN
AccessionPrimary (citable) accession number: Q8N960
Secondary accession number(s): Q6AI52 expand/collapse secondary AC list , Q6AW89, Q8IWB5, Q8N9Y0, Q8NDE8
Entry history
Integrated into UniProtKB/Swiss-Prot: September 2, 2008
Last sequence update: September 2, 2008
Last modified: March 19, 2014
This is version 85 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 5

Human chromosome 5: entries, gene names and cross-references to MIM