CEP164 - centrosomal protein 164 Gene

Also Known as NPHP15

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 22897

About CEP164

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:117,321,778-117,413,266 (from NCBI)

This gene has 14 transcripts (splice variants), 162 orthologues, 3 paralogues and is associated with 3 phenotypes. Broad expression in testis (RPKM 9.7), endometrium (RPKM 3.1) and 25 other tissues.

Summary

This gene encodes a centrosomal protein involved in microtubule organization, DNA damage response, and chromosome segregation. The encoded protein is required for assembly of primary cilia and localizes to mature centrioles. Defects in this gene are a cause of nephronophthisis-related ciliopathies. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

CEP164 Products (2)

mRNA	Protein	Name
NM_001271933.2	NP_001258862.1	centrosomal protein of 164 kDa isoform 2
NM_014956.5	NP_055771.4	centrosomal protein of 164 kDa isoform 1

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	22863007	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	17954613	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in centriole	IDA IDA: Inferred from direct assay	23348840	GOA
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
part of ciliary transition fiber	IDA IDA: Inferred from direct assay	23348840	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
centrosomal protein of 164 kDa	centrosomal protein 164kDa

CEP164 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	CEP164	Q9UPV0	TTBK2	Homo sapiens	Q6IQ55	Anti Tag CoIP	22863007
Intra	CEP164	Q9UPV0	TTBK2	Homo sapiens	Q6IQ55	Anti Tag CoIP	33961781
Intra	CEP164	Q9UPV0	NPHP3	Homo sapiens	Q7Z494	Anti Tag CoIP	22863007
Intra	CEP164	Q9UPV0	CCDC92	Homo sapiens	Q53HC0	Anti Tag CoIP	22863007
Intra	CEP164	Q9UPV0	CCDC92	Homo sapiens	Q53HC0	Y2H	22863007
Intra	CEP164	Q9UPV0	DVL3	Homo sapiens	Q92997	Pull Down	22863007

Cross: Cross-species interaction Intra: Intraspecies interaction

CEP164 抗体

製品番号	製品名	アプリケーション	反応性
HY-P89569	CEP164 Antibody (YA8913)	WB, ICC/IF, IF-Tissue, IP, ELISA	human

関連疾患

Diseases	Alias
Nephronophthisis 15	NPHP15 Nephronophthisis, Type 15
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
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Interstitial Nephritis	Nephritis, Interstitial Renal Tubulo-Interstitial Disease Nephritis Interstitial Nephritis, Tubulointerstitial
Nephronophthisis 18	NPHP18 Nephronophthisis, Type 18
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Nephronophthisis 14	Joubert Syndrome 19 NPHP14 JBTS19 Nephronophthisis, Type 14
Spinocerebellar Ataxia 11	Spinocerebellar Ataxia Type 11 SCA11 Spinocerebellar Ataxia-11 Ataxia, Spinocerebellar, Type 11
Nephronophthisis 20	NPHP20
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 24	JBTS24
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
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
Nephronophthisis 9	NPHP9 Nephronophthisis, Type 9
Joubert Syndrome 10	JBTS10 Joubert Syndrome, Type 10
Orofaciodigital Syndrome	Oral-Facial-Digital Syndrome Orofaciodigital Syndromes Ofd Oral Facial Digital Syndromes Oral-Facial-Digital Syndromes Dysplasia Linguofacialis Ofds Oro-Facio-Digital Syndrome Orodigitofacial Dysostosis Orodigitofacial Syndrome Oral Facial Digital Syndrome Orofaciodigital Syndrome I
Joubert Syndrome 21	JBTS21 Joubert Syndrome, Type 21
Interstitial Nephritis, Karyomegalic	Karyomegalic Interstitial Nephritis KMIN Kin Systemic Karyomegaly Karyomegalic Tubulointerstitial Nephritis Ktn
Retinal Degeneration	Degeneration Of Retina
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
Seckel Syndrome	Microcephalic Primordial Dwarfism Bird-Headed Dwarfism Harper'S Syndrome Virchow-Seckel Dwarfism Nanocephalic Dwarfism Sckl Seckel-Type Dwarfism
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
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
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
Primary Microcephaly	True Microcephaly Microcephaly, 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 4 With Or Without Polycystic Liver Disease	Autosomal Recessive Polycystic Kidney Disease Arpkd Polycystic Kidney Disease, Autosomal Recessive Polycystic Kidney And Hepatic Disease 1 Pkhd1 PKD4 Polycystic Kidney Disease 4 With Or Without Hepatic Disease Polycystic Kidney Disease, Infantile, Type I Polycystic Kidney Disease, Infantile Type Polycystic Kidney, Autosomal Recessive Pkd3, Formerly Polycystic Kidney Disease 4, With Or Without Hepatic Disease Arpkd/Chf Ar-Pkd Polycystic Kidney Disease 4, With Or Without Polycystic Liver Disease Infantile Polycystic Kidney Disease Type I Pkd3 Kidney, Polycystic, Disease, Type 4, With/Without Hepatic Disease Polycystic Kidney Disease 3, Autosomal Dominant
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
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
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
Primary Autosomal Recessive Microcephaly	Autosomal Recessive Primary Microcephaly Mcph True Microcephaly Microcephalia Vera Microcephaly Vera Microcephaly Primary Hereditary Microcephaly, Primary, Autosomal Recessive Primary Microcephaly
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
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-RS02504	CEP164 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Canis familiaris	CEP164	VGNC	VGNC:39121
Mus musculus	CEP164	MGD	MGI:2384878
Felis catus	CEP164	VGNC	VGNC:60770
Bos taurus	CEP164	VGNC	VGNC:27196
Macaca mulatta	CEP164	VGNC	VGNC:71129
Rattus norvegicus	CEP164	RGD	RGD:1561243
Others	CEP164	NCBI