RPGRIP1 - RPGR interacting protein 1 Gene

Homo sapiens

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

Gene ID: 57096 | Gene type: protein coding

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	Reference	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

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

Bioactive Molecules (2)

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