1. Gene
  2. PRICKLE3 - prickle planar cell polarity protein 3 Gene

PRICKLE3 - prickle planar cell polarity protein 3 Gene

中文名称:刺平面细胞极性蛋白 3

种属: Homo sapiens

同用名: Pk3; LMO6; LOAM

基因 ID: 4007 | 基因类型: protein coding

关于 PRICKLE3

Cytogenetic location: Xp11.23 Genomic coordinates (GRCh38): X:49,174,802-49,186,373 (from NCBI)

This gene has 8 transcripts (splice variants), 198 orthologues, 1 paralogue and is associated with 1 phenotype. Ubiquitous expression in skin (RPKM 16.7), esophagus (RPKM 11.7) and 24 other tissues.

功能概要

LIM 结构域只有 6 个,是一个含有三个 LIM 结构域的蛋白质。 LIM 结构域是一个富含半胱氨酸的序列基序,它结合锌原子形成特定的蛋白质结合界面,用于蛋白质-蛋白质相互作用。[RefSeq 提供,2008 年 7 月]

LIM domain only 6 is a three LIM domain-containing protein. The LIM domain is a cysteine-rich sequence motif that binds zinc atoms to form a specific protein-binding interface for protein-protein interactions. [provided by RefSeq, Jul 2008]

PRICKLE3 基因产物(2)

mRNA Protein Name
NM_001307979.2 NP_001294908.1 prickle planar cell polarity protein 3 isoform 2
NM_006150.5 NP_006141.2 prickle planar cell polarity protein 3 isoform 1
基因本体论
  • 分子功能
  • 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
17474147 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrion IDA
IDA: 通过直接分析推断
32516135 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
蛋白主名 其他名称

prickle planar cell polarity protein 3

LIM domain only protein 6

PRICKLE3 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
PRICKLE3 O43900 FYN Homo sapiens P06241 17474147
种属内
PRICKLE3 O43900 SULT2B1 Homo sapiens O00204 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 Hereditary Optic Neuropathy, Modifier Of

Leber Optic Atrophy

Leber Hereditary Optic Neuropathy

LHON

Leber'S Hereditary Optic Neuropathy

Leber Optic Atrophy, Susceptibility To

Leber'S Optic Atrophy

LOAM

Loas

Leber'S Disease

Leber'S Optic Neuropathy

Optic Atrophy, Hereditary, Leber

Lhon, Modifier Of

Optic Atrophy, Leber Type

Hereditary Optic Neuroretinopathy

Leber Hereditary Optic Atrophy

Loa

Optic Atrophy Leber Type

Leber Hereditary Optic Neuropathy, Modifier

Leber Hereditary Optic Neuropathy Susceptibility

Modifier Of Leber Hereditary Optic Neuropathy

Lebers Hereditary Optic Neuropathy

Leber Congenital Amaurosis

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

Lissencephaly 8

LIS8

Alzheimer Disease 15

AD15

Alzheimer'S Disease 15

Alzheimer Disease Without Neurofibrillary Tangles

Alzheimer'S Disease 15, Late Onset

Alzheimer'S Disease Without Neurofibrillary Tangles

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

Usher Syndrome, Type Iiia

Usher Syndrome Type 3

Ush3

Usher Syndrome Type 3a

USH3A

Usher Syndrome, Type Iii

Usher Syndrome, Type 3

Usher Syndrome, Type 3a

Usher Syndrome Type Iiia

Usher Syndrome 3a

Usher'S Syndrome Type 3

Usher Syndrome Iii

Usher Syndrome Type Iii

Spinocerebellar Ataxia, Autosomal Recessive 24

SCAR24

Autosomal Recessive Spinocerebellar Ataxia 24

Spinocerebellar Ataxia, Autosomal Recessive, 24

Ataxia, Spinocerebellar, Autosomal Recessive, Type 24

Schuurs-Hoeijmakers Syndrome

SHMS

Pacs1-Related Syndrome

Mrd17

Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome

Intellectual Developmental Disorder, Autosomal Dominant 17

Autosomal Dominant Intellectual Disability-17

Autosomal Dominant Mental Retardation 17

Pacs1 Syndrome

Mental Retardation, Autosomal Dominant 17

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
Rattus norvegicus PRICKLE3 RGD RGD:1359685
Macaca mulatta PRICKLE3 VGNC VGNC:76361
Canis familiaris PRICKLE3 VGNC VGNC:44967
Bos taurus PRICKLE3 VGNC VGNC:33317
Mus musculus PRICKLE3 MGD MGI:1859635
Felis catus PRICKLE3 VGNC VGNC:68072