KIAA0753 - KIAA0753 Gene

Homo sapiens

Also known as MNR; OFIP; JBTS38; SRTD21

Gene ID: 9851 | Gene type: protein coding

About KIAA0753

Cytogenetic location: 17p13.1 Genomic coordinates (GRCh38): 17:6,578,147-6,640,711 (from NCBI)

This gene has 10 transcripts (splice variants), 195 orthologues and is associated with 4 phenotypes. Ubiquitous expression in testis (RPKM 6.1), thyroid (RPKM 4.0) and 25 other tissues.

Summary

This gene encodes a subunit of a protein complex that regulates ciliogenesis and cilia maintenance. The encoded protein has also been shown to regulate centriolar duplication. Mutations in this gene cause an orofaciodigital syndrome and a form of Joubert syndrome in human patients. [provided by RefSeq, May 2017]

KIAA0753 Products(2)

mRNA	Protein	Name
NM_001351225.2	NP_001338154.1	protein moonraker isoform 2
NM_014804.3	NP_055619.2	protein moonraker isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cilium assembly	IMP IMP: Inferred from mutant phenotype	28220259	GOA
involved in cytosolic ciliogenesis	IMP IMP: Inferred from mutant phenotype	28220259	GOA
involved in protein localization to centrosome	IMP IMP: Inferred from mutant phenotype	26297806	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in centriolar satellite	IDA IDA: Inferred from direct assay	26297806	GOA
located in centrosome	IDA IDA: Inferred from direct assay	21399614	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

protein moonraker

OFD1 and FOPNL interacting protein

Related Diseases

Diseases

Alias

Joubert Syndrome 38

JBTS38

Orofaciodigital Syndrome Xv

OFD15	Ofds Xv
Oral-Facial-Digital Syndrome, Type Xv	Orofaciodigital Syndrome 15
Oro-Facio-Digital Syndrome, Xv

Short-Rib Thoracic Dysplasia 21 Without Polydactyly

SRTD21

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

Orofaciodigital Syndrome Vi

OFD6	Varadi-Papp Syndrome
Varadi Syndrome	Joubert Syndrome With Orofaciodigital Defect
Orofaciodigital Syndrome Type 6	Orofaciodigital Syndrome 6
Oral-Facial-Digital Syndrome, Type Vi	Ofds Vi
Polydactyly, Cleft Lip/Palate Or Lingual Lump, And Psychomotor Retardation	Polydactyly Cleft Lip Palate Psychomotor Retardation
Oral-Facial-Digital Syndrome Type 6	Polydactyly-Cleft Lip/Palate-Psychomotor Retardation Syndrome
Polydactyly - Cleft Lip/Palate - Psychomotor Retardation	Váradi Syndrome
Váradi-Papp Syndrome	Joubert Syndrome With Oral-Facial-Digital Syndrome
Oral-Facial-Digital Syndrome 6	Joubert-Orofaciodigital Syndrome
Orofaciodigital Syndrome, Type Vi

Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly

Asphyxiating Thoracic Dystrophy 1	Jeune Syndrome
SRTD1	Atd1
Asphyxiating Thoracic Dystrophy Of The Newborn	Jatd
Jeune Asphyxiating Thoracic Dystrophy	Thoracic-Pelvic-Phalangeal Dystrophy
Atd	Asphyxiating Thoracic Dystrophy
Chondroectodermal Dysplasia-Like Syndrome	Infantile Thoracic Dystrophy
Jeune'S Syndrome	Thoracic Pelvic Phalangeal Dystrophy
Jeune Thoracic 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

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

Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly

SRTD13

Ellis-Van Creveld Syndrome

Chondroectodermal Dysplasia	Mesoectodermal Dysplasia
EVC	Ellis Van Creveld Syndrome
Mesodermic Dysplasia	Ellis-Van Creveld Dysplasia

Developmental And Epileptic Encephalopathy 25

Developmental And Epileptic Encephalopathy, 25	Dee25
Developmental And Epileptic Encephalopathy 25, With Amelogenesis Imperfecta	Early Infantile Epileptic Encephalopathy 25
Encephalopathy, Epileptic, Early Infantile, Type 25

Spondyloepimetaphyseal Dysplasia, Sponastrime Type

Sponastrime Dysplasia	Spondylar And Nasal Alterations With Striated Metaphyses
SEMDSP	Short-Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation
Spondylar And Nasal Alterations-Striated Metaphyses Syndrome	Spondyloepimetaphyseal Dysplasia Sponastrime Type
Short Limb Dwarfism With Saddle Nose, Spinal Alterations, And Metaphyseal Striation	Spondylar And Nasal Changes With Striations Of The Metaphyses Dysplasia
Short Limb Dwarfism With Saddle Nose, Spinal Alterations And Metaphyseal Striation	Dysplasia, Spondyloepimetaphyseal, Sponastrime Type

Meningioma, Familial

Meningioma	Familial Meningioma
Meningioma, Familial, Susceptibility To	Meningeal Neoplasm
Meningeal Neoplasms	Meningiomas
Meningioma, Nf2-Related, Somatic	Meningioma, Sis-Related
Meningothelial Cell Tumor	Neoplasm Of The Meninges
Primary Meningeal Tumor	Familial Multiple Meningioma
MNGMA	Meningioma, Benign, No Icd-O Subtype
Intracranial Meningioma	Meningothelial Cell Neoplasm
Supratentorial Meningioma	Primary Neoplasm Of Spinal Meninges
Benign Intracranial Meningioma	Benign Meningioma
Meningeal Tumours	Meningeal Sarcoma Of Unspecified Site
Meningothelial Sarcoma Of Unspecified Site

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

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

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-RS07248	KIAA0753 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	KIAA0753	VGNC	VGNC:63086
Rattus norvegicus	KIAA0753	RGD	RGD:1304728
Canis familiaris	KIAA0753	VGNC	VGNC:42350
Bos taurus	KIAA0753	VGNC	VGNC:30555
Mus musculus	KIAA0753	MGD	MGI:1921727
Macaca mulatta	KIAA0753	VGNC	VGNC:73929

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