RPGRIP1 - RPGR interacting protein 1 Gene

Also Known as LCA6; RGI1; RGRIP; CORD13; RPGRIP; RPGRIP1d

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57096

About RPGRIP1

Cytogenetic location: 14q11.2 Genomic coordinates (GRCh38): 14:21,280,083-21,351,301 (from NCBI)

This gene has 13 transcripts (splice variants), 159 orthologues, 1 paralogue and is associated with 7 phenotypes. Restricted expression toward testis (RPKM 14.5).

Summary

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]

RPGRIP1 Products (6)

mRNA	Protein	Name
NM_001377523.1	NP_001364452.1	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 2
NM_001377948.1	NP_001364877.1	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 3
NM_001377949.1	NP_001364878.1	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 4
NM_001377950.1	NP_001364879.1	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 5
NM_001377951.1	NP_001364880.1	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 6
NM_020366.4	NP_065099.3	X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform 1

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	16339905	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

RPGRIP1 Protein Structure

C2-C2_1

0
200
400
600
800
1000
1200
1286 a.a.

Protein Preferred Names	Protein Names
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1	retinitis pigmentosa GTPase regulator interacting protein 1

RPGRIP1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	RPGRIP1	Q96KN7	TFPT	Homo sapiens	P0C1Z6-2	Y2H Array	25416956
Intra	RPGRIP1	Q96KN7	RPP25L	Homo sapiens	Q8N5L8	Y2H Prey Pooling	25416956
Intra	RPGRIP1	Q96KN7	RPP25L	Homo sapiens	Q8N5L8	Y2H Array	25416956
Intra	RPGRIP1	Q96KN7	CSPP1	Homo sapiens	Q1MSJ5-2	Validated Y2H	25416956
Intra	RPGRIP1	Q96KN7	CSPP1	Homo sapiens	Q1MSJ5-2	Y2H Array	25416956
Intra	RPGRIP1	Q96KN7	FAM74A4	Homo sapiens	Q5TZK3	Validated Y2H	25416956
Intra	RPGRIP1	Q96KN7	FAM74A4	Homo sapiens	Q5TZK3	Y2H Prey Pooling	25416956
Intra	RPGRIP1	Q96KN7	ZNF564	Homo sapiens	Q8TBZ8	Y2H Prey Pooling	25416956
Intra	RPGRIP1	Q96KN7	MAGEB2	Homo sapiens	O15479	Validated Y2H	25416956
Intra	RPGRIP1	Q96KN7	MAGEB2	Homo sapiens	O15479	Y2H Array	25416956
Intra	RPGRIP1	Q96KN7	FEM1C	Homo sapiens	Q96JP0	Validated Y2H	25416956
Intra	RPGRIP1	Q96KN7	FEM1C	Homo sapiens	Q96JP0	Y2H Array	25416956
Intra	RPGRIP1	Q96KN7	TBC1D7	Homo sapiens	Q9P0N9	Y2H Array	25416956
Intra	RPGRIP1	Q96KN7	TBC1D7	Homo sapiens	Q9P0N9	Y2H Prey Pooling	25416956
Intra	RPGRIP1	Q96KN7	NPHP4	Homo sapiens	O75161	BioID	26638075
Intra	RPGRIP1	Q96KN7	NPHP4	Homo sapiens	O75161	Y2H	21224891
Intra	RPGRIP1	Q96KN7	TRIB3	Homo sapiens	Q96RU7	Y2H Array	25416956
Intra	RPGRIP1	Q96KN7	TRIB3	Homo sapiens	Q96RU7	Y2H Prey Pooling	25416956
Intra	RPGRIP1	Q96KN7	RPGR	Homo sapiens	Q92834	Y2H Array	25416956
Intra	RPGRIP1	Q96KN7	RPGR	Homo sapiens	Q92834	BioID	26638075
Intra	RPGRIP1	Q96KN7	RPGR	Homo sapiens	Q92834	Y2H Prey Pooling	25416956
Intra	RPGRIP1	Q96KN7	RPGR	Homo sapiens	Q92834	TAP	27173435
Intra	RPGRIP1	Q96KN7	RPGR	Homo sapiens	Q92834	Y2H Array	31515488
Intra	RPGRIP1	Q96KN7	DPPA4	Homo sapiens	Q7L190	Y2H Prey Pooling	25416956
Intra	RPGRIP1	Q96KN7	ZNF337	Homo sapiens	Q9Y3M9	Y2H Prey Pooling	25416956
Intra	RPGRIP1	Q96KN7	ZNF417	Homo sapiens	Q8TAU3	Validated Y2H	25416956
Intra	RPGRIP1	Q96KN7	ZNF417	Homo sapiens	Q8TAU3	Y2H Array	25416956
Intra	RPGRIP1	Q96KN7	ZNF417	Homo sapiens	Q8TAU3	Y2H Prey Pooling	25416956
Intra	RPGRIP1	Q96KN7	CHCHD3	Homo sapiens	Q9NX63	Y2H Prey Pooling	25416956
Intra	RPGRIP1	Q96KN7	CHCHD3	Homo sapiens	Q9NX63	Validated Y2H	25416956
Intra	RPGRIP1	Q96KN7	CHCHD3	Homo sapiens	Q9NX63	Y2H Array	25416956
Intra	RPGRIP1	Q96KN7	HEYL	Homo sapiens	Q9NQ87	Y2H Array	25416956
Intra	RPGRIP1	Q96KN7	AEN	Homo sapiens	Q8WTP8	Y2H Array	25416956
Intra	RPGRIP1	Q96KN7	AEN	Homo sapiens	Q8WTP8	Y2H Prey Pooling	25416956
Intra	RPGRIP1	Q96KN7	GATAD2B	Homo sapiens	Q8WXI9	Validated Y2H	25416956
Intra	RPGRIP1	Q96KN7	GATAD2B	Homo sapiens	Q8WXI9	Y2H Array	25416956
Intra	RPGRIP1	Q96KN7	GATAD2B	Homo sapiens	Q8WXI9	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Leber Congenital Amaurosis 6	LCA6 Leber Congenital Amaurosis, Type 6
Cone-Rod Dystrophy 13	CORD13 Dystrophy, Cone-Rod, Type 13
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
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
Leber Congenital Amaurosis 1	LCA1 Amaurosis Congenita Of Leber I Lca Retinal Blindness, Congenital Crb Leber Congenital Amaurosis Type I Leber Congenital Amaurosis, Type 1 Amaurosis Congenita Of Leber, Type 1
Cone Dystrophy	Retinal Cone Dystrophy Dystrophy, Cone Cone Dystrophy 3
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
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
Retinitis
Color Blindness	Color Vision Defect Blindness Color Colour Blindness Colour Vision Deficiency Color Vision Deficiency Color Vision Defects Defective Color Vision Vision Defect, Color Color-Vision Disease Dyschromatopsia
Retinitis Pigmentosa 3	RP3 Retinitis Pigmentosa 15 Rp15 Choroidoretinal Degeneration With Retinal Reflex In Heterozygous Women Cone-Rod Degeneration, X-Linked Retinitis Pigmentosa Type 15 X-Linked Cone-Rod Degeneration X-Linked Retinitis Pigmentosa 3 Xlrp3 Xlrp-3 Retinitis Pigmentosa-3 Retinitis Pigmentosa, Type 3
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
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Cone-Rod Dystrophy 1	CORD1 Crd1 Cone-Rod Retinal Dystrophy-1 Retinitis Pigmentosa 1
Retinal Degeneration	Degeneration Of Retina
Leber Congenital Amaurosis 3	LCA3 Retinitis Pigmentosa 94, Variable Age At Onset, Autosomal Recessive Leber Congenital Amaurosis, Type 3 Leber Congenital Amaurosis Type 3
Morgagni Cataract	Hypermature Cataract Morgagnian Cataract
Retinitis Pigmentosa 39	RP39 Retinitis Pigmentosa, Type 39
Nephronophthisis 4	NPHP4 Juvenile Nephronophthisis 4 Nephronophthisis 4, Juvenile Nephronophthisis, Type 4
Nephronophthisis	Medullary Cystic Disease Medullary Cystic Kidney Nph Nphp Kidney Disease, Cystic, Medullary
Laurence-Moon Syndrome	LNMS Laurence-Moon-Biedl Syndrome
Achromatopsia 3	ACHM3 Pingelapese Blindness Total Colorblindness With Myopia Achromatopsia With Myopia Achm1 Rmch1 Rod Monochromacy 1 Rod Monochromatism 1 Achm1, Formerly Rod Monochromatism 1, Formerly Rod Monochromacy 1, Formerly Rmch1, Formerly Achromatopsia-3 Achromatopsia, Type 3
Night Blindness, Congenital Stationary, Autosomal Dominant 2	Congenital Stationary Night Blindness Autosomal Dominant 2 CSNBAD2 Hemeralopia Night Blindness, Congenital Stationary, Rambusch Type Rambusch Type Congenital Stationary Night Blindness Congenital Stationary Night Blindness Rambusch Type Hemeralopia Congenital Essential Blindness, Night, Stationary, Congenital, Autosomal Dominant, Type 2
Leber Congenital Amaurosis 4	LCA4 Retinitis Pigmentosa, Juvenile Cone-Rod Dystrophy Leber Congenital Amaurosis, Type 4 Retinitis Pigmentosa
Leber Congenital Amaurosis 10	LCA10 Leber Congenital Amaurosis, Type 10
Leber Congenital Amaurosis 13	LCA13 Retinitis Pigmentosa 53 RP53 Leber Congenital Amaurosis, 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 7	JBTS7 Cerebello-Oculo-Renal Syndrome 3 Cors3 Joubert Syndrome, Type 7
Simpson-Golabi-Behmel Syndrome, Type 2	Simpson-Golabi-Behmel Syndrome Type 2 SGBS2 Simpson-Golabi-Behmel Syndrome 2
Cone-Rod Dystrophy 6	CORD6 Retinal Cone Dystrophy 2 Rcd2 Dystrophy, Cone-Rod, Type 6 Retinitis Pigmentosa 6 Progressive Cone Degeneration Cone 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
Achromatopsia	Achm Rod Monochromatism Total Color Blindness Rod Monochromacy Monochromatism Achromatism Complete Or Incomplete Color Blindness Pingelapese Blindness Achromatopsia 1 Achromatopsia 2 Achromatopsia 3
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
Bardet-Biedl Syndrome	Bbs Biedl-Bardet Syndrome

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 (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS12155	RPGRIP1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS12156	RPGRIP1L Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	RPGRIP1	MGD	MGI:1932134
Canis familiaris	RPGRIP1	VGNC	VGNC:45711
Bos taurus	RPGRIP1	VGNC	VGNC:34104
Rattus norvegicus	RPGRIP1	RGD	RGD:1310807
Felis catus	RPGRIP1	VGNC	VGNC:80868
Macaca mulatta	RPGRIP1	VGNC	VGNC:77007
Others	RPGRIP1	NCBI