CCP110 - centriolar coiled-coil protein 110 Gene

Also Known as CP110; Cep110

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 9738

About CCP110

Cytogenetic location: 16p12.3 Genomic coordinates (GRCh38): 16:19,523,942-19,553,408 (from NCBI)

This gene has 12 transcripts (splice variants) and 204 orthologues. Broad expression in testis (RPKM 21.6), brain (RPKM 10.5) and 22 other tissues.

Summary

Involved in centriole replication; negative regulation of cilium assembly; and regulation of cytokinesis. Located in centriole and centrosome. Part of protein-containing complex. [provided by Alliance of Genome Resources, Apr 2022]

CCP110 Products (8)

mRNA	Protein	Name
NM_001199022.3	NP_001185951.2	centriolar coiled-coil protein of 110 kDa isoform 1
NM_001323569.2	NP_001310498.1	centriolar coiled-coil protein of 110 kDa isoform 1
NM_001323570.2	NP_001310499.1	centriolar coiled-coil protein of 110 kDa isoform 2
NM_001323571.2	NP_001310500.1	centriolar coiled-coil protein of 110 kDa isoform 2
NM_001323572.2	NP_001310501.1	centriolar coiled-coil protein of 110 kDa isoform 2
NM_001323576.2	NP_001310505.1	centriolar coiled-coil protein of 110 kDa isoform 3
NM_001323577.2	NP_001310506.1	centriolar coiled-coil protein of 110 kDa isoform 3
NM_014711.6	NP_055526.4	centriolar coiled-coil protein of 110 kDa isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	12361598	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in centriole replication	IMP IMP: Inferred from mutant phenotype	16244668	GOA
involved in centrosome duplication	IDA IDA: Inferred from direct assay	20596027	GOA
involved in centrosome duplication	IMP IMP: Inferred from mutant phenotype	12361598	GOA
involved in negative regulation of cilium assembly	IMP IMP: Inferred from mutant phenotype	17719545	GOA
involved in regulation of cytokinesis	IMP IMP: Inferred from mutant phenotype	16760425	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in centriole	IDA IDA: Inferred from direct assay	17681131	GOA
located in centrosome	IDA IDA: Inferred from direct assay	12361598	GOA
part of protein-containing complex	IDA IDA: Inferred from direct assay	24421332	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
centriolar coiled-coil protein of 110 kDa	centriolar coiled-coil protein 110kDa

CCP110 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	CCP110	O43303	NEURL4	Homo sapiens	Q96JN8	IF	22441691
Intra	CCP110	O43303	NEURL4	Homo sapiens	Q96JN8	Anti Bait CoIP	22441691
Intra	CCP110	O43303	NEURL4	Homo sapiens	Q96JN8	Anti Tag CoIP	22441691
Intra	CCP110	O43303	KIAA0586	Homo sapiens	Q9BVV6	Anti Bait CoIP	24421332
Intra	CCP110	O43303	CCNF	Homo sapiens	P41002	Anti Bait CoIP	22441691
Intra	CCP110	O43303	CCNF	Homo sapiens	P41002	Anti Tag CoIP	20596027
Intra	CCP110	O43303	CEP97	Homo sapiens	Q8IW35	Anti Bait CoIP	35709258
Intra	CCP110	O43303	CEP97	Homo sapiens	Q8IW35	Anti Bait CoIP	21620453
Intra	CCP110	O43303	CEP97	Homo sapiens	Q8IW35	Anti Bait CoIP	24421332
Intra	CCP110	O43303	CEP97	Homo sapiens	Q8IW35	Anti Bait CoIP	18694559
Intra	CCP110	O43303	CEP97	Homo sapiens	Q8IW35	BioID	26638075
Intra	CCP110	O43303	CEP97	Homo sapiens	Q8IW35	Anti Bait CoIP	22441691
Intra	CCP110	O43303	CEP97	Homo sapiens	Q8IW35	Anti Bait CoIP	17719545
Intra	CCP110	O43303	CEP97	Homo sapiens	Q8IW35	Anti Tag CoIP	17719545
Intra	CCP110	O43303	CEP97	Homo sapiens	Q8IW35	Anti Tag CoIP	18694559
Intra	CCP110	O43303	CETN2	Homo sapiens	P41208	Anti Bait CoIP	16760425
Intra	CCP110	O43303	CETN2	Homo sapiens	P41208	Anti Bait CoIP	35709258
Intra	CCP110	O43303	CETN2	Homo sapiens	P41208	Pull Down	16760425
Intra	CCP110	O43303	CEP290	Homo sapiens	O15078	IF	18694559
Intra	CCP110	O43303	CEP290	Homo sapiens	O15078	Anti Bait CoIP	22441691
Intra	CCP110	O43303	CEP290	Homo sapiens	O15078	Anti Bait CoIP	24421332
Intra	CCP110	O43303	CEP290	Homo sapiens	O15078	Y2H	18694559
Intra	CCP110	O43303	CEP290	Homo sapiens	O15078	Anti Bait CoIP	18694559
Intra	CCP110	O43303	CEP290	Homo sapiens	O15078	GMS	18694559
Intra	CCP110	O43303	CEP290	Homo sapiens	O15078	Anti Tag CoIP	18694559
Intra	CCP110	O43303	NUP50	Homo sapiens	Q9UKX7	Anti Bait CoIP	35709258
Intra	CCP110	O43303	KIF24	Homo sapiens	Q5T7B8	Anti Bait CoIP	35709258
Intra	CCP110	O43303	KIF24	Homo sapiens	Q5T7B8	Anti Bait CoIP	21620453

Cross: Cross-species interaction Intra: Intraspecies interaction

関連疾患

Diseases	Alias
Female-Restricted Syndromic X-Linked Intellectual Disability 99	X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Intellectual Disability, X-Linked 99, Syndromic, Female-Restricted Female-Restricted Syndromic X-Linked Mental Retardation 99 Mrxs99f X-Linked Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability Syndrome Limited To Females
Spinocerebellar Ataxia 11	Spinocerebellar Ataxia Type 11 SCA11 Spinocerebellar Ataxia-11 Ataxia, Spinocerebellar, Type 11
Meckel Syndrome, Type 1	Meckel-Gruber Syndrome Meckel Syndrome Dysencephalia Splanchnocystica Meckel Syndrome 1 MKS1 Mks Gruber Syndrome Meckel-Gruber Syndrome, Type 1 Mes Dysencephalia Splachnocystica Meckel Gruber Syndrome Meckel Syndrome Type 1
Orofaciodigital Syndrome I	OFD1 Orofaciodigital Syndrome 1 Oral-Facial-Digital Syndrome, Type I Oral-Facial-Digital Syndrome 1 Ofds I Papillon-Leage And Psaume Syndrome Papillon-Leage-Psaume Syndrome Oral-Facial-Digital Syndrome Type 1 Orofaciodigital Syndrome Type 1 Orofaciodigital Syndromes Orofaciodigital Syndrome Type I Oral-Facial-Digital Syndrome Type I Ofd Syndrome 1 Ofds 1 Oral Facial Digital Syndrome 1 Oral Facial Digital Syndrome Type 1 Papillon-League-Psaume Syndrome Ofdi Ofdsi Orofaciodigital Syndrome, Type I
Joubert Syndrome 5	JBTS5 Joubert Syndrome, Type 5
Townes-Brocks Syndrome	Townes Syndrome Renal-Ear-Anal-Radial Syndrome Anus, Imperforate, With Hand, Foot And Ear Anomalies Imperforate Anus-Hand, Foot And Ear Anomalies Syndrome Rear Syndrome Sensorineural Deafness With Imperforate Anus And Hypoplastic Thumbs Tbs Deafness, Sensorineural, With Imperforate Anus And Hypoplastic Thumbs Imperforate Anus With Hand, Foot And Ear Anomalies Anal-Ear-Renal-Radial Malformation Syndrome Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Imperforate Anus-Hand And Foot Anomalies Syndrome Sensorineural Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome Sensorineural Hearing Loss With Imperforate Anus And Hypoplastic Thumbs
Mosaic Variegated Aneuploidy Syndrome	Warburton-Anyane-Yeboa Syndrome Mva Syndrome Mosaic Variegated Aneuplody Microcephaly Syndrome Warburton Anyane Yeboa Syndrome
Senior-Loken Syndrome 1	Senior-Loken Syndrome Renal Dysplasia And Retinal Aplasia Renal-Retinal Syndrome Loken-Senior Syndrome Juvenile Nephronophthisis With Leber Amaurosis SLSN1 Senior-Loken Syndrome-1 Loken Senior Syndrome Senior Loken Syndrome Renal Dysplasia Retinal Aplasia Nephronophthisis With Retinal Dystrophy Renal Dysplasia-Retinal Aplasia Syndrome Slsn
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
Primary Microcephaly	True Microcephaly Microcephaly, Primary
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Asphyxiating Thoracic Dystrophy	Jeune Thoracic Dystrophy Jeune Syndrome Asphyxiating Thoracic Dysplasia Short-Rib Thoracic Dysplasia With Or Without Polydactyly Thoracic Pelvic Phalangeal Dystrophy Asphyxiating Thoracic Chondrodystrophy Atd Chondroectodermal Dysplasia-Like Syndrome Infantile Thoracic Dystrophy Jeune Thoracic Dysplasia Thoracic Asphyxiant Dystrophy Thoracic-Pelvic-Phalangeal Dystrophy Short-Rib Thoracic Dysplasia Without Polydactyly Asphyxiating Thoracic Dystrophy Of The Newborn Asphyxiating Thorax Dystrophy
Joubert Syndrome 1	Joubert Syndrome Jbts Cerebellooculorenal Syndrome 1 JBTS1 Joubert-Boltshauser Syndrome Cerebelloparenchymal Disorder Iv Cpd4 Cors1 Joubert Syndrome And Related Disorders Jsrd Familial Aplasia Of The Vermis Joubert Syndrome Related Disorders Js Cerebellar Vermis Agenesis Cerebelloparenchymal Disorder 4 Agenesis Of Cerebellar Vermis Cerebello-Oculo-Renal Syndrome Cors Joubert-Bolthauser Syndrome Cpd Iv Classic Joubert Syndrome Joubert Syndrome Type A Pure Joubert Syndrome Cerebello-Oculo-Renal Syndrome 1 Joubert Syndrome-1 Joubert Syndrome, Type 1 Joubert'S Syndrome
Cystic Kidney Disease	Renal Cyst Simple Renal Cyst Kidney Cysts Kidney Diseases, Cystic Renal Cysts Kidney Cyst Cystic Kidney Congenital Cystic Kidney Disease Cystic Kidney Diseases Bosniak 1 Cyst
Primary Ciliary Dyskinesia	Immotile Cilia Syndrome Kartagener Syndrome Dextrocardia Bronchiectasis And Sinusitis Pcd Ciliary Motility Disorders Ciliary Motility Disorder Immotile Ciliary Syndrome Ciliary Dyskinesia Primary Ics Polynesian Bronchiectasis Dextrocardia-Bronchiectasis-Sinusitis Syndrome Immotile Cilia Syndrome, Kartagener Type Primary Ciliary Dyskinesia And Situs Inversus Primary Ciliary Dyskinesia, Kartagener Type Siewert Syndrome Dyskinesia, Ciliary, Primary
Visceral Heterotaxy	Situs Ambiguus Heterotaxia Heterotaxy Syndrome Heterotaxy Lateralization Defect Situs Ambiguous Left Isomerism Htx Ivemark Syndrome Right Isomerism Situs Ambiguus Viscerum Incomplete Situs Inversus Partial Situs Inversus Heterotaxy, Visceral Asplenia Syndrome Bilateral Left-Sidedness Polysplenia Syndrome Moller Syndrome
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS02145	CCP110 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Bos taurus	CCP110	VGNC	VGNC:26981
Felis catus	CCP110	VGNC	VGNC:60570
Rattus norvegicus	CCP110	RGD	RGD:1310509
Macaca mulatta	CCP110	VGNC	VGNC:70846
Mus musculus	CCP110	MGD	MGI:2141942
Canis familiaris	CCP110	VGNC	VGNC:38909
Others	CCP110	NCBI