2. Gene
  3. RPGRIP1 - RPGR interacting protein 1 Gene

RPGRIP1 - RPGR interacting protein 1 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：RPGR 相互作用蛋白 1

种属: Homo sapiens

同用名: LCA6; RGI1; RGRIP; CORD13; RPGRIP; RPGRIP1d

基因 ID: 57096 | 基因类型: protein coding

关于 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).

功能概要

该基因编码的光感受器蛋白与色素性视网膜炎 GTPase 调节蛋白相互作用，是视锥细胞和视杆细胞的关键成分。该基因的突变导致常染色体隐性先天性失明。[RefSeq 提供，2008 年 10 月]

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 基因产物(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
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
16339905 GOA
EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

RPGRIP1 蛋白结构

C2-C2_1

C2-C2_1: First C2 domain of RPGR-interacting protein 1 (652 - 757)

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  • 1286 a.a.
蛋白主名 其他名称

X-linked retinitis pigmentosa GTPase regulator-interacting protein 1

retinitis pigmentosa GTPase regulator interacting protein 1

RPGRIP1 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (2)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12155 RPGRIP1 Human Pre-designed siRNA Set A Pre-designed Sets / 否
HY-RS12156 RPGRIP1L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 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
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