RPGRIP1L - RPGRIP1 like Gene

Also Known as FTM; MKS5; CORS3; JBTS7; NPHP8; COACH3; PPP1R134

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23322

About RPGRIP1L

Cytogenetic location: 16q12.2 Genomic coordinates (GRCh38): 16:53,598,153-53,703,859 (from NCBI)

This gene has 16 transcripts (splice variants), 202 orthologues, 1 paralogue and is associated with 7 phenotypes. Broad expression in testis (RPKM 3.8), brain (RPKM 1.3) and 19 other tissues.

Summary

The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]

RPGRIP1L Products (6)

mRNA	Protein	Name
NM_001127897.4	NP_001121369.1	protein fantom isoform b
NM_001308334.3	NP_001295263.1	protein fantom isoform c
NM_001328422.2	NP_001315351.1	protein fantom isoform d
NM_001328423.2	NP_001315352.1	protein fantom isoform e
NM_001330538.2	NP_001317467.1	protein fantom isoform f
NM_015272.5	NP_056087.2	protein fantom isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	17558407	GOA
enables thromboxane A2 receptor binding	IPI IPI: Inferred from physical interaction	19464661	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of G protein-coupled receptor signaling pathway	IDA IDA: Inferred from direct assay	19464661	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in axoneme	IDA IDA: Inferred from direct assay	17558409	GOA
located in cell-cell junction	IDA IDA: Inferred from direct assay	21565611	GOA
located in centrosome	IDA IDA: Inferred from direct assay	17558409	GOA
located in ciliary basal body	IDA IDA: Inferred from direct assay	17558409	GOA
located in ciliary transition zone	IDA IDA: Inferred from direct assay	26595381	GOA
located in cilium	IDA IDA: Inferred from direct assay	17558409	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	17558409	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

RPGRIP1L Protein Structure

C2-C2_1

0
300
600
900
1200
1315 a.a.

Protein Preferred Names	Protein Names
protein fantom	RPGR-interacting protein 1-like protein

RPGRIP1L Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Cross	RPGRIP1L	Q68CZ1	Rpgr	Mus musculus	Q9R0X5	Y2H	19430481
Cross	RPGRIP1L	Q68CZ1	Rpgr	Mus musculus	Q9R0X5	Anti Tag CoIP	19430481

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Coach Syndrome 3	COACH3
Meckel Syndrome, Type 5	Meckel Syndrome 5 MKS5 Meckel-Gruber Syndrome, Type 5
Joubert Syndrome 7	JBTS7 Cerebello-Oculo-Renal Syndrome 3 Cors3 Joubert Syndrome, Type 7
Coach Syndrome 1	Coach Syndrome Joubert Syndrome With Congenital Hepatic Fibrosis Gentile Syndrome Joubert Syndrome With Hepatic Defect Js-H COACH1 Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypoplasia-Oligophrenia-Congenital Ataxia-Coloboma-Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Ataxia Congenital, Coloboma, And Hepatic Fibrosis Cerebellar Vermis Hypo/Aplasia Oligophrenia Congenital Ataxia Ocular Coloboma And Hepatic Fibrosis
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
Joubert Syndrome 4	JBTS4 Joubert Syndrome With Renal Defect Joubert Syndrome With Renal Anomalies Js-R Joubert Syndrome, Type 4
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
Gender Incongruence	Gender Dysphoria Transsexualism Gender Identify Disorder
Ciliopathy
Sexual Health Disorder	Sexual Health
Retinal Degeneration	Degeneration Of Retina
Joubert Syndrome 5	JBTS5 Joubert Syndrome, Type 5
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
Joubert Syndrome 2	Cerebellooculorenal Syndrome 2 JBTS2 Cors2 Cerebello-Oculo-Renal Syndrome 2 Joubert Syndrome, Type 2
Nephronophthisis 14	Joubert Syndrome 19 NPHP14 JBTS19 Nephronophthisis, Type 14
Apraxia	Apraxias Dyspraxia
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Nephronophthisis 11	NPHP11 Nephronophthisis, Type 11
Joubert Syndrome 14	JBTS14 Joubert Syndrome, Type 14
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome
Nephronophthisis 19	NPHP19 Nephronophthisis, Type 19
Meckel Syndrome, Type 8	Meckel Syndrome 8 MKS8 Meckel-Gruber Syndrome, Type 8
Meckel Syndrome, Type 3	MKS3 Meckel Syndrome 3 Meckel-Gruber Syndrome, Type 3 Meckel Syndrome Type 3
Joubert Syndrome 3	JBTS3 Joubert Syndrome With Ocular Defect Joubert Syndrome With Ocular Anomalies Js-O Joubert Syndrome With Retinopathy Joubert Syndrome-3 Joubert Syndrome, Type 3
Cone-Rod Dystrophy 13	CORD13 Dystrophy, Cone-Rod, Type 13
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
Joubert Syndrome 15	JBTS15 Joubert Syndrome, Type 15
Joubert Syndrome 24	JBTS24
Nephronophthisis 9	NPHP9 Nephronophthisis, Type 9
Polydactyly	Non-Syndromic Polydactyly Polydactyly, Postaxial Postaxial Polydactyly Supernumerary Digit Extra Digits Hyperdactyly Polydactylia Polydactylism Supernumerary Digits
Meckel Syndrome, Type 4	Meckel Syndrome 4 MKS4 Meckel-Gruber Syndrome, Type 4 Meckel Syndrome Type 4
Cogan Syndrome	Cogan'S Syndrome Diffuse Interstitual Keratitis Cogans Syndrome Oculovestibuloauditory Syndrome
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
Nephronophthisis 12	NPHP12 Joubert Syndrome 11 JBTS11 Nephronophthisis, Type 12
Joubert Syndrome 20	JBTS20 Joubert Syndrome, Type 20
Acrocallosal Syndrome	ACLS Schinzel Acrocallosal Syndrome Joubert Syndrome 12 Schinzel Syndrome 1 Acrocallosal Syndrome, Schinzel Type Hallux Duplication, Postaxial Polydactyly, And Absence Of Corpus Callosum Acs Absence Of Corpus Callosum With Unusual Facial Appearance, Mental Deficiency, Duplication Of The Halluces And Polydactyly Hallux Duplication Postaxial Polydactyly And Absence Of Corpus Callosum JBTS12 Acrocallosal Syndrome
Cranioectodermal Dysplasia	Sensenbrenner Syndrome Levin Syndrome 1 Ced Levin Syndrome Dysplasia, Cranioectodermal
Coloboma Of Macula	Coloboma Congenital Ocular Coloboma Microphthalmia, Isolated, With Coloboma Agenesis Of Macula Hereditary Macular Coloboma Ocular Coloboma Coloboma Of Eye Macular Coloboma Uveoretinal Coloboma
Nephronophthisis 2	NPHP2 Nph2 Nephronophthisis 2, Infantile Infantile Nephronophthisis 2 Infantile Nephronophthisis Nephronophthisis, Type 2
Retinitis Pigmentosa 39	RP39 Retinitis Pigmentosa, Type 39
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
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
Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia Mesoectodermal Dysplasia EVC Ellis Van Creveld Syndrome Mesodermic Dysplasia Ellis-Van Creveld Dysplasia
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
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
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
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
Situs Inversus	Situs Inversus Viscerum Laterality Sequence Complete Transposition Siv
Polycystic Kidney Disease	Polycystic Kidney Diseases Pkd Polycystic Renal Disease Kidney Disease, Polycystic Polycystic Kidney, Autosomal Dominant
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
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
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
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]
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
Congenital Nervous System Abnormality	Congenital Neurologic Anomaly Congenital Nervous System Disorder

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-RS12156	RPGRIP1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	RPGRIP1L	VGNC	VGNC:77124
Bos taurus	RPGRIP1L	VGNC	VGNC:34105
Mus musculus	RPGRIP1L	MGD	MGI:1920563
Felis catus	RPGRIP1L	VGNC	VGNC:64734
Canis familiaris	RPGRIP1L	VGNC	VGNC:45712
Rattus norvegicus	RPGRIP1L	RGD	RGD:1311099
Others	RPGRIP1L	NCBI