Q8N960 (CE120_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Centrosomal protein of 120 kDa
Short name=Cep120

Alternative name(s):
Coiled-coil domain-containing protein 100

Gene names

Name:	CEP120
Synonyms:	CCDC100

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	986 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytoskeleton › centrosome 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.

Ontologies

Keywords
Cellular component	Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	astral microtubule organization Inferred from electronic annotation. Source: Compara cerebral cortex development Inferred from electronic annotation. Source: Compara interkinetic nuclear migration Inferred from electronic annotation. Source: Compara neurogenesis Inferred from electronic annotation. Source: Compara regulation of microtubule-based process Inferred from electronic annotation. Source: Compara regulation of protein localization Inferred from electronic annotation. Source: Compara
Cellular_component	centrosome Inferred from direct assay PubMed 21399614. Source: UniProtKB cytoplasm Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 986	986	Centrosomal protein of 120 kDa		PRO_0000348262
Regions
	Coiled coil	669 – 925	257	Potential
Natural variations
	Alternative sequence	1 – 26	26	Missing in isoform 2.		VSP_035123
	Alternative sequence	347 – 380	34	SLIEL…TGPKS → DAFWYSALDIIFPLFIFLFL VLDAIRKFANYEEK in isoform 3.		VSP_035124
	Alternative sequence	381 – 986	606	Missing in isoform 3.		VSP_035125
	Natural variant	602	1	L → V. Ref.3 Corresponds to variant rs6595440 [ dbSNP | Ensembl ].		VAR_046126
	Natural variant	879	1	Q → H. Corresponds to variant rs1047437 [ dbSNP | Ensembl ].		VAR_046127
	Natural variant	936	1	V → I. Corresponds to variant rs2303721 [ dbSNP | Ensembl ].		VAR_046128
	Natural variant	947	1	R → H. Corresponds to variant rs2303720 [ dbSNP | Ensembl ].		VAR_046129
Experimental info
	Sequence conflict	212	1	L → F in BAC04596. Ref.3
	Sequence conflict	246	1	E → G in BAC04596. Ref.3
	Sequence conflict	301	1	H → R in CAH10371. Ref.4
	Sequence conflict	785	1	Q → L in BAC04596. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified September 2, 2008. Version 2. Checksum: 97B96A09962B0862	FASTA	986	112,640
	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
	Isoform 2 [UniParc]. Checksum: 9958C5E336DE9906	FASTA	960	109,643
	10 20 30 40 50 60 MLVVEAKFDG EQLATDPVDH TDQPEFATEL AWEIDRKALH QHRLQRTPIK LQCFALDPVT 70 80 90 100 110 120 SAKETIGYIV LDLRTAQETK QAPKWYQLLS NKYTKFKSEI QISIALETDT KPPVDSFKAK 130 140 150 160 170 180 GAPPRDGKVP AILAGLDPRD IVAVLNEEGG YHQIGPAEYC TDSFIMSVTI AFATQLEQLI 190 200 210 220 230 240 PCTMKLPERQ PEFFFYYSLL GNDVTNEPFN DLINPNFEPE RASVRIRSSV EILRVYLALQ 250 260 270 280 290 300 SKLQIHLCCG DQSLGSTEIP LTGLLKKGST EINQHPVTVE GAFTLDPPNR AKQKLAPIPV 310 320 330 340 350 360 ELAPTVGVSV ALQREGIDSQ SLIELKTQNE HEPEHSKKKV LTPIKEKTLT GPKSPTVSPV 370 380 390 400 410 420 PSHNQSPPTK DDATESEVES LQYDKDTKPN PKASSSVPAS LAQLVTTSNA SEVASGQKIA 430 440 450 460 470 480 VPATSHHFCF SIDLRSIHAL EIGFPINCIL RYSYPFFGSA APIMTNPPVE VRKNMEVFLP 490 500 510 520 530 540 QSYCAFDFAT MPHQLQDTFL RIPLLVELWH KDKMSKDLLL GIARIQLSNI LSSEKTRFLG 550 560 570 580 590 600 SNGEQCWRQT YSESVPVIAA QGSNNRIADL SYTVTLEDYG LVKMREIFIS DSSQGVSAVQ 610 620 630 640 650 660 QKPSSLPPAP CPSEIQTEPR ETLEYKAALE LEMWKEMQED IFENQLKQKE LAHMQALAEE 670 680 690 700 710 720 WKKRDRERES LVKKKVAEYT ILEGKLQKTL IDLEKREQQL ASVESELQRE KKELQSERQR 730 740 750 760 770 780 NLQELQDSIR RAKEDCIHQV ELERLKIKQL EEDKHRLQQQ LNDAENKYKI LEKEFQQFKD 790 800 810 820 830 840 QQNNKPEIRL QSEINLLTLE KVELERKLES ATKSKLHYKQ QWGRALKELA RLKQREQESQ 850 860 870 880 890 900 MARLKKQQEE LEQMRLRYLA AEEKDTVKTE RQELLDIRNE LNRLRQQEQK QYQDSTEIAS 910 920 930 940 950 960 GKKDGPHGSV LEEGLDDYLT RLIEERDTLM RTGVYNHEDR IISELDRQIR EILAKSNASN
	Isoform 3 [UniParc]. Checksum: 02729EE7F437B46D	FASTA	380	42,705
	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 EGIDSQDAFW YSALDIIFPL 370 380 FIFLFLVLDA IRKFANYEEK

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. , 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]	"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.
IPI	IPI00171224. IPI00217258. IPI00748877.
RefSeq	NP_001159698.1. NM_001166226.1. NP_694955.2. NM_153223.3.
UniGene	Hs.483209.
3D structure databases
ProteinModelPortal	Q8N960.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q8N960. 2 interactions.
MINT	MINT-7034560.
STRING	9606.ENSP00000303058.
Polymorphism databases
DMDM	205696377.
Proteomic databases
PaxDb	Q8N960.
PRIDE	Q8N960.
Protocols and materials databases
DNASU	153241.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000306467; ENSP00000303058; ENSG00000168944. ENST00000306481; ENSP00000307419; ENSG00000168944. ENST00000328236; ENSP00000327504; ENSG00000168944. ENST00000395431; ENSP00000378819; ENSG00000168944. ENST00000513565; ENSP00000422089; ENSG00000168944.
GeneID	153241.
KEGG	hsa:153241.
UCSC	uc003ktk.3. human.
Organism-specific databases
CTD	153241.
GeneCards	GC05M122708.
HGNC	HGNC:26690. CEP120.
HPA	HPA028823.
MIM	613446. gene.
neXtProt	NX_Q8N960.
PharmGKB	PA164717857.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG140545.
HOGENOM	HOG000007674.
HOVERGEN	HBG107643.
InParanoid	Q8N960.
KO	K16459.
OMA	SLQYDKD.
OrthoDB	EOG4KD6KK.
Gene expression databases
ArrayExpress	Q8N960.
Bgee	Q8N960.
CleanEx	HS_CEP120.
Genevestigator	Q8N960.
Family and domain databases
InterPro	IPR000008. C2_Ca-dep. IPR008973. C2_Ca/lipid-bd_dom_CaLB. IPR022136. DUF3668. [Graphical view]
Pfam	PF12416. DUF3668. 1 hit. [Graphical view]
SMART	SM00239. C2. 1 hit. [Graphical view]
SUPFAM	SSF49562. C2_CaLB. 1 hit.
ProtoNet	Search...
Other
GenomeRNAi	153241.
NextBio	87092.
SOURCE	Search...

Entry information

Entry name

CE120_HUMAN

Accession

Primary (citable) accession number: Q8N960
Secondary accession number(s): Q6AI52 , Q6AW89, Q8IWB5, Q8N9Y0, Q8NDE8

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 2, 2008
Last sequence update:	September 2, 2008
Last modified:	April 3, 2013
This is version 79 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.