1. Gene
  2. GPR143 - G protein-coupled receptor 143 Gene

GPR143 - G protein-coupled receptor 143 Gene

中文名称:G 蛋白偶联受体 143

种属: Homo sapiens

同用名: OA1; NYS6

基因 ID: 4935 | 基因类型: protein coding

关于 GPR143

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:9,725,346-9,778,602 (from NCBI)

This gene has 5 transcripts (splice variants), 201 orthologues and is associated with 5 phenotypes. Broad expression in skin (RPKM 3.2), placenta (RPKM 2.0) and 16 other tissues.

功能概要

该基因编码的蛋白质可与异源三聚体 G 蛋白结合,并靶向色素细胞中的黑素体。这种蛋白质被认为参与细胞内信号转导机制。该基因的突变会导致 1 型眼白化病,也称为 Nettleship-Falls 型眼白化病,一种严重的视力障碍。已在 Y 染色体上鉴定出一个相关的假基因。[RefSeq 提供,2009 年 12 月]

This gene encodes a protein that binds to heterotrimeric G proteins and is targeted to melanosomes in pigment cells. This protein is thought to be involved in intracellular signal transduction mechanisms. Mutations in this gene cause ocular albinism type 1, also referred to as Nettleship-Falls type ocular albinism, a severe visual disorder. A related pseudogene has been identified on chromosome Y. [provided by RefSeq, Dec 2009]

GPR143 基因产物(1)

mRNA Protein Name
NM_000273.3 NP_000264.2 G-protein coupled receptor 143
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 G protein-coupled receptor activity IDA
IDA: 通过直接分析推断
16524428 GOA
enables L-DOPA binding IDA
IDA: 通过直接分析推断
18828673 GOA
enables L-DOPA receptor activity IDA
IDA: 通过直接分析推断
18828673 GOA
enables L-tyrosine binding IDA
IDA: 通过直接分析推断
18828673 GOA
enables dopamine binding IDA
IDA: 通过直接分析推断
18828673 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16524428 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in G protein-coupled receptor signaling pathway IMP
IMP: 通过突变表型推断
18828673 GOA
involved in melanosome localization IDA
IDA: 通过直接分析推断
19717472 GOA
involved in melanosome organization IMP
IMP: 通过突变表型推断
19717472 GOA
involved in melanosome transport IDA
IDA: 通过直接分析推断
19717472 GOA
involved in phospholipase C-activating G protein-coupled receptor signaling pathway IDA
IDA: 通过直接分析推断
16524428 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Golgi apparatus IDA
IDA: 通过直接分析推断
19717472 GOA
located in apical plasma membrane IDA
IDA: 通过直接分析推断
18828673 GOA
located in lysosomal membrane IDA
IDA: 通过直接分析推断
16621890 GOA
located in melanosome IDA
IDA: 通过直接分析推断
10471510 GOA
located in melanosome membrane IDA
IDA: 通过直接分析推断
16621890 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
16524428 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

GPR143 蛋白结构

Ocular_alb

Ocular_alb: Ocular albinism type 1 protein (1 - 404)

  • 0
  • 100
  • 200
  • 300
  • 404 a.a.
蛋白主名 其他名称

G-protein coupled receptor 143

ocular albinism 1

GPR143 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
种属内
GPR143 P51810 TYR Homo sapiens P14679
Confocal
27720922
种属内
GPR143 P51810 TYR Homo sapiens P14679
Anti Tag CoIP
27720922
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
Albinism, Ocular, Type I

OA1

Nettleship-Falls Type Ocular Albinism

Ocular Albinism Type 1

Ocular Albinism, Type I

Ocular Albinism, Type I, Nettleship-Falls Type

X-Linked Recessive Ocular Albinism

Xloa

X-Linked Ocular Albinism

Ocular Albinism, Nettleship-Falls Type

Albinism Ocular 1

Oa-1

Nystagmus 6, Congenital, X-Linked

NYS6

Congenital Nystagmus 6

X-Linked Congenital Nystagmus 6

Nystagmus Congenital X-Linked 6

Nystagmus, Type 6, Congenital, X-Linked

Ocular Albinism

Albinism, Ocular

Oa

Xloa

Albinism Ocular

Albinism
Congenital Nystagmus

Nystagmus, Congenital

Nystagmus Congenital

Astigmatism
Pathologic Nystagmus

Nystagmus

Nystagmus 7, Congenital, Autosomal Dominant

NYS7

Congenital Nystagmus 7

Autosomal Dominant Congenital Nystagmus 7

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Nystagmus 3, Congenital, Autosomal Dominant

NYS3

Congenital Nystagmus 3

Autosomal Dominant Congenital Nystagmus 3

Albinism, Oculocutaneous, Type Iv

OCA4

Oculocutaneous Albinism Type 4

Oculocutaneous Albinism, Type Iv

Oculocutaneous Albinism Type Iv

Albinism, Oculocutaneous, 4

Albinism, Oculocutaneous, Type Iii

Rufous Oculocutaneous Albinism

Oculocutaneous Albinism Type 3

OCA3

Roca

Xanthism

Oculocutaneous Albinism Type Iii

Albinism Iii

Oculocutaneous Albinism, Type Iii

Albinism 3

Albinism, Oculocutaneous, Type 3

Rufous Oca

Red Oculocutaneous Albinism

Xanthous Oculocutaneous Albinism

Albinism, Oculocutaneous, 3

Oca-Iii

Albinism, Oculocutaneous, Type Ib

OCA1B

Oculocutaneous Albinism Type 1b

Albinism, Yellow Mutant Type

Yellow Albinism

Oculocutaneous Albinism Type Ib

Temperature-Sensitive Oculocutaneous Albinism Type 1

Oculocutaneous Albinism, Type Ib

Yellow Mutant Albinism

Oca1-Ts

Ts Oca Type 1

Oculocutaneous Albinism, Amish Type

Platinum Oculocutaneous Albinism

Yellow Oculocutaneous Albinism

Albinism, Oculocutaneous, 1b

Albinism Yellow Mutant Type

Oca-Ib

Oca-Its

Oculocutaneous Albinism Type I Temperature-Sensitive

Albinism, Oculocutaneous, Type I, Temperature-Sensitive

Minimal Pigment Oculocutaneous Albinism

Ocular Motility Disease

Ocular Motility Disorders

Abnormality Of Eye Movement

Disorder Of Eye Movements

Eye Movement Disorder

Eye Movement Disorders

Kallmann Syndrome

Hypogonadism With Anosmia

Kallman'S Syndrome

Anosmic Hypogonadism

Anosmic Idiopathic Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism And Anosmia

Hypogonadotropic Hypogonadism-Anosmia Syndrome

Olfacto-Genital Pathological Sequence

Familial Hypogonadism With Anosmia

Kallman Syndrome

Dysplasia Olfactogenitalis Of De Morsier

Kallmann'S Syndrome

Congenital Hypogonadotropic Hypogonadism With Anosmia

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

Robinow Syndrome, Autosomal Dominant 1

Autosomal Dominant Robinow Syndrome 1

DRS1

Robinow Dwarfism

Fetal Face Syndrome

Acral Dysostosis With Facial And Genital Abnormalities

Robinow, Autosomal Dominant Syndrome, Type 1

Aland Island Eye Disease

AIED

Forsius-Eriksson Type Ocular Albinism

Forsius-Eriksson Syndrome

Autoimmune Inner Ear Disease

Forsius Eriksson Type Ocular Albinism

Aland Islands Eye Disease

Aaland Island Eye Disease

Ocular Albinism, Type Ii

Ichthyosis

Ichthyoses

Non-Syndromic Ichthyosis

Congenital Ichthyosis

Retinal Degeneration

Degeneration Of Retina

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly

Anterior Segment Mesenchymal Dysgenesis

Corneal Opacification And Other Ocular Anomalies

Sclerocornea With Other Ocular Anomalies

Asmd

Asod

Anterior Segment Ocular Dysgenesis

Foxe3-Related Ocular Disorder

Familial Ocular Anterior Segment Mesenchymal Dysgenesis

Dysgenesis, Anterior Segment

Irido-Corneal Dysgenesis

Axenfeld-Rieger Syndrome, Type 3

Exotropia

Divergent Concomitant Strabismus

Divergent Strabismus

Divergent Squint

External Strabismus

Xt - [Exotropia]

Achromatopsia

Achm

Rod Monochromatism

Total Color Blindness

Rod Monochromacy

Monochromatism

Achromatism

Complete Or Incomplete Color Blindness

Pingelapese Blindness

Achromatopsia 1

Achromatopsia 2

Achromatopsia 3

Aniridia 1

Aniridia

Congenital Aniridia

AN1

An

Cataract With Late-Onset Corneal Dystrophy

Aplasia Of Iris

Absent Iris

Irideremia

Aniridia Ii, Formerly

An2, Formerly

An2

Aniridia Type Ii

Aniridia, Type 1

An-1

Absence Of Iris

Agenesis Of Iris

Congenital Absence Of Iris

Hereditary Aniridia

Sporadic Aniridia

Hermansky-Pudlak Syndrome

Hps

Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Hermanski-Pudlak Syndrome

Hermansky Pudlak Syndrome

Platelet Storage Pool Deficiency

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

Exudative Vitreoretinopathy

Familial Exudative Vitreoretinopathy

Fevr

Criswick-Schepens Syndrome

Exudative Vitreoretinopathy, Familial

Vitreoretinopathy, Exudative )

Exudative Vitreoretinopathy 1

Eye Disease

Eye Diseases

Abnormality Of The Eye

Toxoplasma Oculopathy

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

Fundus Dystrophy

Retinal Dystrophy

Retinal Dystrophies

Dystrophy, Retinal

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
Mus musculus GPR143 MGD MGI:107193
Canis familiaris GPR143 VGNC VGNC:110508
Rattus norvegicus GPR143 RGD RGD:1565799
Macaca mulatta GPR143 VGNC VGNC:72972
Bos taurus GPR143 VGNC VGNC:55027
Felis catus GPR143 VGNC VGNC:62676