CEP78 - centrosomal protein 78 Gene

Also Known as IP63; CRDHL; C9orf81

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84131

About CEP78

Cytogenetic location: 9q21.2 Genomic coordinates (GRCh38): 9:78,236,075-78,279,690 (from NCBI)

This gene has 24 transcripts (splice variants), 219 orthologues and is associated with 3 phenotypes. Ubiquitous expression in testis (RPKM 3.5), brain (RPKM 2.3) and 24 other tissues.

Summary

This gene encodes a centrosomal protein that is both required for the regulation of centrosome-related events during the cell cycle, and required for ciliogenesis. The encoded protein has an N-terminal leucine-rich repeat (LRR) domain with six consecutive LRR repeats, and a C-terminal coiled-coil domain. It interacts with the N-terminal catalytic domain of polo-like kinase 4 (PLK4) and colocalizes with PLK4 to the distal end of the centriole. Naturally occurring mutations in this gene cause defects in primary cilia that result in retinal degeneration and sensorineural hearing loss which are associated with cone-rod degeneration disease as well as Usher syndrome. Low expression of this gene is associated with poor prognosis of colorectal Cancer patients. [provided by RefSeq, Mar 2017]

CEP78 Products (8)

mRNA	Protein	Name
NM_001098802.3	NP_001092272.1	centrosomal protein of 78 kDa isoform a
NM_001330691.3	NP_001317620.1	centrosomal protein of 78 kDa isoform c
NM_001330693.3	NP_001317622.1	centrosomal protein of 78 kDa isoform d
NM_001330694.2	NP_001317623.1	centrosomal protein of 78 kDa isoform e
NM_001349838.2	NP_001336767.1	centrosomal protein of 78 kDa isoform f
NM_001349839.2	NP_001336768.1	centrosomal protein of 78 kDa isoform g
NM_001349840.2	NP_001336769.1	centrosomal protein of 78 kDa isoform h
NM_032171.3	NP_115547.1	centrosomal protein of 78 kDa isoform b

Gene Ontology

Biological Process
Cellular Component

Biological Process GO Annotation	Evidence	References	Source
involved in cilium organization	IMP IMP: Inferred from mutant phenotype	27588451	GOA
involved in flagellated sperm motility	IMP IMP: Inferred from mutant phenotype	36206347	GOA
involved in negative regulation of protein ubiquitination	IDA IDA: Inferred from direct assay	28242748	GOA
involved in protein localization to centrosome	IDA IDA: Inferred from direct assay	28242748	GOA

Cellular Component GO Annotation	Evidence	References	Source
is active in centriole	IDA IDA: Inferred from direct assay	34259627	GOA
is active in centrosome	IDA IDA: Inferred from direct assay	28242748	GOA
located in centrosome	IDA IDA: Inferred from direct assay	21399614	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	27588451	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

CEP78 Protein Structure

LRR_6

0
200
400
600
689 a.a.

Protein Preferred Names	Protein Names
centrosomal protein of 78 kDa	centrosomal protein 78kDa

Related Diseases

Diseases	Alias
Cone-Rod Dystrophy And Hearing Loss 1	Cone-Rod Dystrophy And Hearing Loss CRDHL1 Crdhl Dystrophy, Cone-Rod, Hearing Loss Deaf-Blind Disorders
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Usher Syndrome, Type Iiia	Usher Syndrome Type 3 Ush3 Usher Syndrome Type 3a USH3A Usher Syndrome, Type Iii Usher Syndrome, Type 3 Usher Syndrome, Type 3a Usher Syndrome Type Iiia Usher Syndrome 3a Usher'S Syndrome Type 3 Usher Syndrome Iii Usher Syndrome Type Iii
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
Moyamoya Angiopathy
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Neu-Laxova Syndrome 2	NLS2
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract	Pharc Syndrome PHARC Polyneyropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract Polyneuropathy-Hearing Loss-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Peripheral Neuropathy, Fiskerstrand Type Polyneuropathy-Deafness-Ataxia-Retinitis Pigmentosa-Cataract Syndrome Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, Cataract
Phosphoserine Aminotransferase Deficiency	Psat Deficiency PSATD Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form Psat Deficiency, Infantile/Juvenile Form Deficiency, Phosphoserine Aminotransferase
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib
Joubert Syndrome 26	JBTS26
Cone-Rod Dystrophy 16	Retinitis Pigmentosa 64 Retinal Dystrophy With Early Macular Involvement CORD16 RP64
Cone-Rod Dystrophy 18	CORD18 Dystrophy, Cone-Rod, Type 18
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
Retinal Degeneration	Degeneration Of Retina
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

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 (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02524	CEP78 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21524	Cep78 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28042	Cep78 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	CEP78	MGD	MGI:1924386
Macaca mulatta	CEP78	VGNC	VGNC:71102
Canis familiaris	CEP78	VGNC	VGNC:39138
Rattus norvegicus	CEP78	RGD	RGD:620464
Felis catus	CEP78	VGNC	VGNC:60784
Bos taurus	CEP78	VGNC	VGNC:27214
Others	CEP78	NCBI