KIAA0753 - KIAA0753 Gene

Also Known as MNR; OFIP; JBTS38; SRTD21

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 9851

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	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

Biological Process GO Annotation	Evidence	References	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	References	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

KIAA0753 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	KIAA0753	Q2KHM9	CCHCR1	Homo sapiens	Q8TD31-3	Validated Y2H	32296183
Intra	KIAA0753	Q2KHM9	TEAD4	Homo sapiens	D3DUQ6	Validated Y2H	25416956
Intra	KIAA0753	Q2KHM9	TEAD4	Homo sapiens	D3DUQ6	Y2H Array	25416956
Intra	KIAA0753	Q2KHM9	ZNF114	Homo sapiens	Q8NC26	Y2H Prey Pooling	25416956
Intra	KIAA0753	Q2KHM9	ZNF114	Homo sapiens	Q8NC26	Y2H Array	25416956
Intra	KIAA0753	Q2KHM9	ZNF777	Homo sapiens	Q9ULD5	Validated Y2H	32296183
Intra	KIAA0753	Q2KHM9	ROPN1	Homo sapiens	Q9HAT0	Validated Y2H	32296183
Intra	KIAA0753	Q2KHM9	KIFC3	Homo sapiens	Q9BVG8-5	Validated Y2H	32296183
Intra	KIAA0753	Q2KHM9	BHLHA9	Homo sapiens	Q7RTU4	Validated Y2H	32296183
Intra	KIAA0753	Q2KHM9	SMARCD1	Homo sapiens	Q96GM5	Validated Y2H	32296183
Intra	KIAA0753	Q2KHM9	AARD	Homo sapiens	Q4LEZ3	Validated Y2H	32296183
Intra	KIAA0753	Q2KHM9	CT55	Homo sapiens	Q8WUE5	Y2H Array	25416956
Intra	KIAA0753	Q2KHM9	CT55	Homo sapiens	Q8WUE5	Validated Y2H	25416956
Intra	KIAA0753	Q2KHM9	CT55	Homo sapiens	Q8WUE5	Y2H Prey Pooling	25416956
Intra	KIAA0753	Q2KHM9	WDR62	Homo sapiens	O43379	Anti Bait CoIP	26297806
Intra	KIAA0753	Q2KHM9	FAM161A	Homo sapiens	Q3B820	Y2H Array	25416956
Intra	KIAA0753	Q2KHM9	USHBP1	Homo sapiens	Q8N6Y0	Y2H Array	25416956
Intra	KIAA0753	Q2KHM9	TCHP	Homo sapiens	Q9BT92	Validated Y2H	32296183
Intra	KIAA0753	Q2KHM9	TCHP	Homo sapiens	Q9BT92	BioID	26638075
Intra	KIAA0753	Q2KHM9	PCM1	Homo sapiens	Q15154	BioID	26638075
Intra	KIAA0753	Q2KHM9	MNS1	Homo sapiens	Q8NEH6	Validated Y2H	32296183
Intra	KIAA0753	Q2KHM9	GCC1	Homo sapiens	Q96CN9	Y2H Prey Pooling	25416956
Intra	KIAA0753	Q2KHM9	GCC1	Homo sapiens	Q96CN9	Y2H Array	25416956
Intra	KIAA0753	Q2KHM9	AIRIM	Homo sapiens	Q9NX04	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

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

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 Set	/	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
Others	KIAA0753	NCBI