CEP78 - centrosomal protein 78 Gene

Homo sapiens

Also known as IP63; CRDHL; C9orf81

Gene ID: 84131 | Gene type: protein coding

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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02524	CEP78 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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