CleftGeneDB-Search

Gene: CCP110

Basic information

Tag	Content
Uniprot ID	O43303; B7WP23; O43335; Q68DV9; Q8NE13;
Entrez ID	9738
Genbank protein ID	AAH36654.1; BAA24849.2; AAC05804.1; CAH18111.1;
Genbank nucleotide ID	NM_001323572.1; XM_017023908.1; NM_001323570.1; NM_001323569.1; NM_001323571.1; XM_011545991.2; XM_011545992.2; NM_001199022.2; NM_014711.5;
Ensembl protein ID	ENSP00000379515; ENSP00000379511; ENSP00000370803;
Ensembl nucleotide ID	ENSG00000103540
Gene name	Centriolar coiled-coil protein of 110 kDa
Gene symbol	CCP110
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Necessary for centrosome duplication at different stages of procentriole formation. Acts as a key negative regulator of ciliogenesis in collaboration with CEP97 by capping the mother centriole thereby preventing cilia formation (PubMed:17719545 PubMed:17681131, PubMed:23486064). Also involved in promoting ciliogenesis. May play a role in the assembly of the mother centriole subdistal appendages (SDA) thereby effecting the fusion of recycling endosomes to basal bodies during cilia formation (By similarity). Required for correct spindle formation and has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CETN2 (PubMed:16760425).
Sequence	MEEYEKFCEK SLARIQEASL STESFLPAQS ESISLIRFHG VAILSPLLNI EKRKEMQQEK 60 QKALDVEARK QVNRKKALLT RVQEILDNVQ VRKAPNASDF DQWEMETVYS NSEVRNLNVP 120 ATFPNSFPSH TEHSTAAKLD KIAGILPLDN EDQCKTDGID LARDSEGFNS PKQCDSSNIS 180 HVENEAFPKT SSATPQETLI SDGPFSVNEQ QDLPLLAEVI PDPYVMSLQN LMKKSKEYIE 240 REQSRRSLRG SINRIVNESH LDKEHDAVEV ADCVKEKGQL TGKHCVSVIP DKPSLNKSNV 300 LLQGASTQAS SMSMPVLASF SKVDIPIRTG HPTVLESNSD FKVIPTFVTE NNVIKSLTGS 360 YAKLPSPEPS MSPKMHRRRS RTSSACHILI NNPINACELS PKGKEQAMDL IIQDTDENTN 420 VPEIMPKLPT DLAGVCSSKV YVGKNTSEVK EDVVLGKSNQ VCQSSGNHLE NKVTHGLVTV 480 EGQLTSDERG AHIMNSTCAA MPKLHEPYAS SQCIASPNFG TVSGLKPASM LEKNCSLQTE 540 LNKSYDVKNP SPLLMQNQNT RQQMDTPMVS CGNEQFLDNS FEKVKRRLDL DIDGLQKENC 600 PYVITSGITE QERQHLPEKR YPKGSGFVNK NKMLGTSSKE SEELLKSKML AFEEMRKRLE 660 EQHAQQLSLL IAEQEREQER LQKEIEEQEK MLKEKKAMTA EASELDINNA VELEWRKISD 720 SSLLETMLSQ ADSLHTSNSN SSGFTNSAMQ YSFVSANEAP FYLWGSSTSG LTKLSVTRPF 780 GRAKTRWSQV FSLEIQAKFN KITAVAKGFL TRRLMQTDKL KQLRQTVKDT MEFIRSFQSE 840 APLKRGIVSA QDASLQERVL AQLRAALYGI HDIFFVMDAA ERMSILHHDR EVRKEKMLRQ 900 MDKMKSPRVA LSAATQKSLD RKKYMKAAEM GMPNKKFLVK QNPSETRVLQ PNQGQNAPVH 960 RLLSRQGTPK TSVKGVVQNR QKPSQSRVPN RVPVSGVYAG KIQRKRPNVA TI 1012

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	Ccp110	101565	Q7TSH4	CPO	Mus musculus	Publication	More>>
1:1 ortholog	CCP110	538197	E1BGQ5		Bos taurus	Prediction	More>>
1:1 ortholog	CCP110	479826	E2RH04		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	CCP110	102177491	A0A452FJA1		Capra hircus	Prediction	More>>
1:1 ortholog	CCP110	100049946	F6QQC1		Equus caballus	Prediction	More>>
1:1 ortholog	CCP110	9738	O43303		Homo sapiens	Prediction	More>>
1:1 ortholog	CCP110	741286	H2QKP3		Pan troglodytes	Prediction	More>>
1:1 ortholog	CCP110	100623654	A0A287A2Q4		Sus scrofa	Prediction	More>>
1:1 ortholog	Ccp110	361634	D4A3J9		Rattus norvegicus	Prediction	More>>

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Other genetic variants/mutations

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ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs3751821	p.Pro171Leu	missense variant	-	NC_000016.10:g.19536181C>T	UniProt,dbSNP
VAR_056789	p.Pro171Leu	missense variant	-	NC_000016.10:g.19536181C>T	UniProt
rs1395120292	p.Arg37His	missense variant	-	NC_000016.10:g.19527991G>A	TOPMed,gnomAD
rs968930617	p.Glu67Val	missense variant	-	NC_000016.10:g.19532474A>T	TOPMed,gnomAD
rs1003764439	p.Glu67Lys	missense variant	-	NC_000016.10:g.19532473G>A	TOPMed,gnomAD
rs1285098244	p.Gln83Glu	missense variant	-	NC_000016.10:g.19532521C>G	TOPMed,gnomAD
rs1408973914	p.Asn96Ile	missense variant	-	NC_000016.10:g.19535956A>T	TOPMed,gnomAD
rs1204802177	p.Ser110Cys	missense variant	-	NC_000016.10:g.19535998C>G	TOPMed,gnomAD
rs1253026018	p.Asn111Ser	missense variant	-	NC_000016.10:g.19536001A>G	TOPMed,gnomAD
rs1398398617	p.Ser129Arg	missense variant	-	NC_000016.10:g.19536056C>G	TOPMed,gnomAD
rs1184835116	p.Ala143Val	missense variant	-	NC_000016.10:g.19536097C>T	TOPMed,gnomAD
rs1304924670	p.Asp160Gly	missense variant	-	NC_000016.10:g.19536148A>G	TOPMed,gnomAD
rs1470443267	p.Glu166Lys	missense variant	-	NC_000016.10:g.19536165G>A	TOPMed,gnomAD
rs919849177	p.Phe187Leu	missense variant	-	NC_000016.10:g.19536228T>C	TOPMed,gnomAD
rs908642725	p.Leu216Ser	missense variant	-	NC_000016.10:g.19536316T>C	TOPMed,gnomAD
rs1365632297	p.Tyr238Cys	missense variant	-	NC_000016.10:g.19536382A>G	TOPMed,gnomAD
rs938179451	p.Asn257Tyr	missense variant	-	NC_000016.10:g.19536438A>T	TOPMed,gnomAD
rs1032997440	p.Gly278Ala	missense variant	-	NC_000016.10:g.19536502G>C	TOPMed,gnomAD
rs1203045230	p.Leu301Phe	missense variant	-	NC_000016.10:g.19536570C>T	TOPMed,gnomAD
rs1357000678	p.Ser310Arg	missense variant	-	NC_000016.10:g.19536599C>G	TOPMed,gnomAD

Showing 1 to 20 of 734 entries

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Disease or phenotype associated information

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Disease ID	Disease Name	Disease Type	Source
C0027022	Myeloproliferative disease	group	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C1292778	Chronic myeloproliferative disorder	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C2827362	Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement	disease	BEFREE
C3266262	Multiple Chronic Conditions	disease	BEFREE

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

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GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

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GO:Biological Process

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GO ID	GO Term	Evidence
GO:0000086	G2/M transition of mitotic cell cycle	TAS
GO:0007099	centriole replication	IMP
GO:0010389	regulation of G2/M transition of mitotic cell cycle	TAS
GO:0016579	protein deubiquitination	TAS
GO:0032053	ciliary basal body organization	ISS
GO:0032465	regulation of cytokinesis	IMP
GO:0045724	positive regulation of cilium assembly	ISS
GO:0051298	centrosome duplication	IMP
GO:0051298	centrosome duplication	IDA
GO:0097711	ciliary basal body-plasma membrane docking	TAS
GO:1902018	negative regulation of cilium assembly	IMP

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GO:Cellular Component

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GO ID	GO Term	Evidence
GO:0005813	centrosome	IDA
GO:0005814	centriole	IDA
GO:0005829	cytosol	TAS
GO:0005929	cilium	IEA
GO:0032991	protein-containing complex	IDA

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Reactome Pathway

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Reactome ID	Reactome Term	Evidence
R-HSA-1640170	Cell Cycle	TAS
R-HSA-1852241	Organelle biogenesis and maintenance	TAS
R-HSA-2565942	Regulation of PLK1 Activity at G2/M Transition	TAS
R-HSA-380259	Loss of Nlp from mitotic centrosomes	TAS
R-HSA-380270	Recruitment of mitotic centrosome proteins and complexes	TAS
R-HSA-380284	Loss of proteins required for interphase microtubule organization from the centrosome	TAS
R-HSA-380287	Centrosome maturation	TAS
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-453274	Mitotic G2-G2/M phases	TAS
R-HSA-5617833	Cilium Assembly	TAS
R-HSA-5620912	Anchoring of the basal body to the plasma membrane	TAS
R-HSA-5688426	Deubiquitination	TAS
R-HSA-5689880	Ub-specific processing proteases	TAS
R-HSA-597592	Post-translational protein modification	TAS
R-HSA-68877	Mitotic Prometaphase	TAS
R-HSA-68886	M Phase	TAS
R-HSA-69275	G2/M Transition	TAS
R-HSA-69278	Cell Cycle, Mitotic	TAS
R-HSA-8854518	AURKA Activation by TPX2	TAS

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Drugs and compounds information

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ID	Drug Name	Action	PubMed
C006780	bisphenol A	bisphenol A affects the expression of CCP110 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of CCP110 gene	28505145
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of CCP110 mRNA]	31150632
C025643	vinclozolin	vinclozolin results in decreased expression of CCP110 mRNA	23034163
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of CCP110 promoter	30157460
C028007	nickel monoxide	nickel monoxide results in decreased expression of CCP110 mRNA	19167457
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of CCP110 mRNA	27153767
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of CCP110 mRNA	24972896
C544151	jinfukang	jinfukang results in decreased expression of CCP110 mRNA	27392435
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of CCP110 mRNA	20971185
D000077210	Sunitinib	Sunitinib results in decreased expression of CCP110 mRNA	31533062
D000431	Ethanol	Ethanol affects the splicing of CCP110 mRNA	30319688
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of CCP110 promoter	30157460
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of CCP110 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of CCP110 mRNA]	31150632
D002945	Cisplatin	Cisplatin results in increased expression of CCP110 mRNA	27594783
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of CCP110 mRNA	20971185
D003471	Cuprizone	Cuprizone results in decreased expression of CCP110 mRNA	27523638
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of CCP110 mRNA	23129252
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of CCP110 mRNA	23649840

Showing 1 to 20 of 40 entries

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Functional annotations

Keywords

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Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0175	Coiled coil
KW-0206	Cytoskeleton
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0832	Ubl conjugation
KW-0963	Cytoplasm
KW-0966	Cell projection
KW-0969	Cilium
KW-0970	Cilium biogenesis/degradation
KW-1185	Reference proteome

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Interpro

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InterPro ID	InterPro Term
IPR033207	CCP110

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PROSITE

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Pfam

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Gene: CCP110

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction