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Protein

Centrosomal protein of 120 kDa

Gene

CEP120

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 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. Required for centriole duplication and maturation during mitosis and subsequent ciliogenesis (By similarity).By similarity

GO - Biological processi

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
Proteomesi
  • UP000005640 Componenti: Chromosome 5

Organism-specific databases

HGNCiHGNC:26690. CEP120.

Subcellular locationi

GO - Cellular componenti

  • centriole Source: UniProtKB
  • centrosome Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Short-rib thoracic dysplasia 13 with or without polydactyly (SRTD13)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
See also OMIM:616300
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073672199A → P in SRTD13. 1 PublicationCorresponds to variant rs367600930dbSNPEnsembl.1

Keywords - Diseasei

Ciliopathy, Disease mutation

Organism-specific databases

DisGeNETi153241.
MIMi616300. phenotype.
OpenTargetsiENSG00000168944.
PharmGKBiPA164717857.

Polymorphism and mutation databases

BioMutaiCEP120.
DMDMi205696377.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003482621 – 986Centrosomal protein of 120 kDaAdd BLAST986

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei935PhosphoserineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8N960.
MaxQBiQ8N960.
PaxDbiQ8N960.
PeptideAtlasiQ8N960.
PRIDEiQ8N960.

PTM databases

iPTMnetiQ8N960.
PhosphoSitePlusiQ8N960.

Expressioni

Gene expression databases

BgeeiENSG00000168944.
CleanExiHS_CEP120.
ExpressionAtlasiQ8N960. baseline and differential.
GenevisibleiQ8N960. HS.

Organism-specific databases

HPAiHPA028823.
HPA051556.

Interactioni

Subunit structurei

Interacts with TACC2, TACC3, CCDC52, TALPID3.By similarity

Binary interactionsi

WithEntry#Exp.IntActNotes
ANK2Q014842EBI-2563015,EBI-941975
CEP162Q5TB806EBI-2563015,EBI-1059012

Protein-protein interaction databases

BioGridi127486. 95 interactors.
IntActiQ8N960. 92 interactors.
MINTiMINT-7034560.
STRINGi9606.ENSP00000303058.

Structurei

Secondary structure

1986
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi4 – 6Combined sources3
Beta strandi8 – 19Combined sources12
Beta strandi27 – 34Combined sources8
Beta strandi37 – 40Combined sources4
Beta strandi47 – 49Combined sources3
Beta strandi51 – 60Combined sources10
Helixi62 – 70Combined sources9
Beta strandi74 – 82Combined sources9
Turni84 – 86Combined sources3
Beta strandi89 – 98Combined sources10
Turni99 – 102Combined sources4
Beta strandi110 – 113Combined sources4
Beta strandi125 – 134Combined sources10

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ICWX-ray2.20A1-151[»]
4ICXX-ray2.70A/B/C1-151[»]
ProteinModelPortaliQ8N960.
SMRiQ8N960.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili669 – 925Sequence analysisAdd BLAST257

Sequence similaritiesi

Belongs to the CEP120 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IDYJ. Eukaryota.
ENOG410XNN2. LUCA.
GeneTreeiENSGT00390000009378.
HOGENOMiHOG000007674.
HOVERGENiHBG107643.
InParanoidiQ8N960.
KOiK16459.
OMAiLKTQNEH.
OrthoDBiEOG091G074C.
PhylomeDBiQ8N960.
TreeFamiTF329430.

Family and domain databases

Gene3Di2.60.40.150. 2 hits.
InterProiIPR000008. C2_dom.
IPR022136. DUF3668.
[Graphical view]
PfamiPF00168. C2. 2 hits.
PF12416. DUF3668. 1 hit.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

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 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence CAH10561 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti212L → F in BAC04596 (PubMed:14702039).Curated1
Sequence conflicti246E → G in BAC04596 (PubMed:14702039).Curated1
Sequence conflicti301H → R in CAH10371 (PubMed:17974005).Curated1
Sequence conflicti785Q → L in BAC04596 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_073672199A → P in SRTD13. 1 PublicationCorresponds to variant rs367600930dbSNPEnsembl.1
Natural variantiVAR_046126602L → V.1 PublicationCorresponds to variant rs6595440dbSNPEnsembl.1
Natural variantiVAR_046127879Q → H.Corresponds to variant rs1047437dbSNPEnsembl.1
Natural variantiVAR_046128936V → I.Corresponds to variant rs2303721dbSNPEnsembl.1
Natural variantiVAR_046129947R → H.Corresponds to variant rs2303720dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0351231 – 26Missing in isoform 2. 1 PublicationAdd BLAST26
Alternative sequenceiVSP_035124347 – 380SLIEL…TGPKS → DAFWYSALDIIFPLFIFLFL VLDAIRKFANYEEK in isoform 3. 1 PublicationAdd BLAST34
Alternative sequenceiVSP_035125381 – 986Missing in isoform 3. 1 PublicationAdd BLAST606

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_011541487.1. XM_011543185.2. [Q8N960-2]
XP_011541488.1. XM_011543186.2.
XP_016864574.1. XM_017009085.1.
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.4. human. [Q8N960-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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]
XP_011541487.1. XM_011543185.2. [Q8N960-2]
XP_011541488.1. XM_011543186.2.
XP_016864574.1. XM_017009085.1.
UniGeneiHs.483209.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4ICWX-ray2.20A1-151[»]
4ICXX-ray2.70A/B/C1-151[»]
ProteinModelPortaliQ8N960.
SMRiQ8N960.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi127486. 95 interactors.
IntActiQ8N960. 92 interactors.
MINTiMINT-7034560.
STRINGi9606.ENSP00000303058.

PTM databases

iPTMnetiQ8N960.
PhosphoSitePlusiQ8N960.

Polymorphism and mutation databases

BioMutaiCEP120.
DMDMi205696377.

Proteomic databases

EPDiQ8N960.
MaxQBiQ8N960.
PaxDbiQ8N960.
PeptideAtlasiQ8N960.
PRIDEiQ8N960.

Protocols and materials databases

DNASUi153241.
Structural Biology KnowledgebaseSearch...

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.4. human. [Q8N960-1]

Organism-specific databases

CTDi153241.
DisGeNETi153241.
GeneCardsiCEP120.
HGNCiHGNC:26690. CEP120.
HPAiHPA028823.
HPA051556.
MIMi613446. gene.
616300. phenotype.
neXtProtiNX_Q8N960.
OpenTargetsiENSG00000168944.
PharmGKBiPA164717857.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IDYJ. Eukaryota.
ENOG410XNN2. LUCA.
GeneTreeiENSGT00390000009378.
HOGENOMiHOG000007674.
HOVERGENiHBG107643.
InParanoidiQ8N960.
KOiK16459.
OMAiLKTQNEH.
OrthoDBiEOG091G074C.
PhylomeDBiQ8N960.
TreeFamiTF329430.

Miscellaneous databases

GeneWikiiCEP120.
GenomeRNAii153241.
PROiQ8N960.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000168944.
CleanExiHS_CEP120.
ExpressionAtlasiQ8N960. baseline and differential.
GenevisibleiQ8N960. HS.

Family and domain databases

Gene3Di2.60.40.150. 2 hits.
InterProiIPR000008. C2_dom.
IPR022136. DUF3668.
[Graphical view]
PfamiPF00168. C2. 2 hits.
PF12416. DUF3668. 1 hit.
[Graphical view]
SUPFAMiSSF49562. SSF49562. 1 hit.
ProtoNetiSearch...

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: November 30, 2016
This is version 112 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.