1. Gene
  2. RPGRIP1L - RPGRIP1 like Gene

RPGRIP1L - RPGRIP1 like Gene

中文名称:RPGRIP1 样

种属: Homo sapiens

同用名: FTM; MKS5; CORS3; JBTS7; NPHP8; COACH3; PPP1R134

基因 ID: 23322 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质可以定位于基底体-中心体复合体或纤毛细胞中的初级纤毛和中心体。已发现编码的蛋白质与 nephrocystin-4 相互作用。该基因的缺陷是导致 Joubert 综合征 7 型 (JBTS7) 和 Meckel 综合征 5 型 (MKS5) 的原因。[RefSeq 提供,2016 年 6 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
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
17558407 GOA
enables thromboxane A2 receptor binding IPI
IPI: 通过物理相互作用推断
19464661 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of G protein-coupled receptor signaling pathway IDA
IDA: 通过直接分析推断
19464661 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in axoneme IDA
IDA: 通过直接分析推断
17558409 GOA
located in cell-cell junction IDA
IDA: 通过直接分析推断
21565611 GOA
located in centrosome IDA
IDA: 通过直接分析推断
17558409 GOA
located in ciliary basal body IDA
IDA: 通过直接分析推断
17558409 GOA
located in ciliary transition zone IDA
IDA: 通过直接分析推断
26595381 GOA
located in cilium IDA
IDA: 通过直接分析推断
17558409 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
17558409 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

RPGRIP1L 蛋白结构

C2-C2_1

C2-C2_1: First C2 domain of RPGR-interacting protein 1 (631 - 738)

C2

C2: C2 domain (792 - 880)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1315 a.a.
蛋白主名 其他名称

protein fantom

RPGR-interacting protein 1-like protein

RPGRIP1L 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
种属间
RPGRIP1L Q68CZ1 Rpgr Mus musculus Q9R0X5
Y2H
19430481
种属间
RPGRIP1L Q68CZ1 Rpgr Mus musculus Q9R0X5 19430481
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
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

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

直系同源

种属 基因名 来源 基因 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
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