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  2. PDLIM1 - PDZ and LIM domain 1 Gene

PDLIM1 - PDZ and LIM domain 1 Gene

中文名称:PDZ 和 LIM 域 1

种属: Homo sapiens

同用名: CLIM1; CLP36; CLP-36; hCLIM1; HEL-S-112

基因 ID: 9124 | 基因类型: protein coding

关于 PDLIM1

Cytogenetic location: 10q23.33 Genomic coordinates (GRCh38): 10:95,237,572-95,291,003 (from NCBI)

This gene has 5 transcripts (splice variants), 215 orthologues and 7 paralogues. Ubiquitous expression in small intestine (RPKM 111.6), colon (RPKM 111.5) and 24 other tissues.

功能概要

该基因编码 enigma 蛋白家族的一个成员。该蛋白质包含两个蛋白质相互作用结构域,一个位于氨基末端的 PDZ 结构域和一到三个位于羧基末端的 LIM 结构域。它是一种与细胞骨架相关的细胞质蛋白。该蛋白质可作为衔接子将其他与 LIM 相互作用的蛋白质带入细胞骨架。与该基因相关的假基因位于 3、14 和 17 号染色体上。[RefSeq 提供,2012 年 10 月]

This gene encodes a member of the enigma protein family. The protein contains two protein interacting domains, a PDZ domain at the amino terminal end and one to three LIM domains at the carboxyl terminal. It is a cytoplasmic protein associated with the Cytoskeleton. The protein may function as an adapter to bring Other LIM-interacting proteins to the Cytoskeleton. Pseudogenes associated with this gene are located on chromosomes 3, 14 and 17. [provided by RefSeq, Oct 2012]

PDLIM1 基因产物(1)

mRNA Protein Name
NM_020992.4 NP_066272.1 PDZ and LIM domain protein 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
10753915 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in Z disc IDA
IDA: 通过直接分析推断
10861853 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
10861853 GOA
located in cytoskeleton IDA
IDA: 通过直接分析推断
10861853 GOA
located in stress fiber IDA
IDA: 通过直接分析推断
11110697 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

PDLIM1 蛋白结构

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (5 - 81)

LIM

LIM: LIM domain (260 - 310)

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

PDZ and LIM domain protein 1

LIM domain protein CLP-36

PDLIM1 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
PDLIM1 O00151 ACTN4 Homo sapiens O43707 33961781
种属内
PDLIM1 O00151 ACTN4 Homo sapiens O43707 28514442
种属内
PDLIM1 O00151 GFAP Homo sapiens P14136 31515488
种属间: 跨种属相互作用 种属内: 同种属相互作用

PDLIM1 抗体

目录号 产品名 应用 反应物种
HY-P81820 PDLIM1 Antibody (YA1565) WB, ICC/IF, IP Human, Mouse, Rat

关联疾病

疾病名称 别名
Supravalvular Aortic Stenosis

SVAS

Supravalvar Aortic Stenosis

Supravalvar Aortic Stenosis, Eisenberg Type

Aortic Supravalvular Stenosis

Aortic Stenosis, Supravalvular

Supra-Valvular Aortic Stenosis

Stenosis, Aortic Supravalvular

Stenosis, Supravalvular Aortic

Supravalvular Stenosis, Aortic

Aortic Stenosis Supravalvular

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Aortic Valve Disease 2

Aortic Valve Stenosis

Aortic Stenosis

Rheumatic Aortic Stenosis

AOVD2

Bicuspid Aortic Valve

Rheumatic Aortic Valve Stenosis

Valvular Aortic Stenosis

Aortic Valve Disease, Type 2

Aortic Valve Stricture

Aortic Valve Obstruction

Obstructed Aorta Valve

Rheumatic Aortic Obstruction

Rheumatic Aortic Valve Obstruction

Rheumatic Aortic Stricture

Aortic Valve Regurgitation

Aortic Insufficiency With Stenosis

Rheumatic Aortic Valve Stenosis With Insufficiency

Rheumatic Aortic Stenosis With Incompetence

Rheumatic Aortic Stenosis With Regurgitation

Orthostatic Intolerance

Mitral Valve Prolapse

Neurocirculatory Asthenia

Mitral Valve Prolapse Syndrome

Irritable Heart

Systolic Click-Murmur Syndrome

Soldiers Heart

Cardiovascular Malfunction Arising From Mental Factors

Cardiovascular Neurosis

Da Costa'S Syndrome

Krishaber'S Disease

Barlow'S Syndrome

Floppy Mitral Valve

Mitral Leaflet Syndrome

Myxomatous Mitral Valve Prolapse

Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

Orthostatic Intolerance Due To Net Deficiency

Pots Due To Net Deficiency

OI

Intolerance, Orthostatic

Mitral Valve Prolapse, Familial, X-Linked

Ballooning Mitral Valve

Barlow Syndrome

Flail Mitral Leaflet

Myxomatous Mitral Valve

Mitral Valve Prolapse-Click Syndrome

Prolapsing Mitral Valve Leaflet Syndrome

Billowing Mitral Valve Leaflet

Posterior Mitral Leaflet Deformity

Ballooning Posterior Leaflet Syndrome

Blue Valve Syndrome

Floppy Mitral Valve Syndrome

Mitral Valvular Prolapse

Systolic Click Syndrome

Strabismus

Strabismus, Susceptibility To

Strabismus, Susceptibility To, 1

Strabismus 1

Familial Expansile Osteolysis

FEO

Mccabe Disease

Osteolysis, Familial Expansile

Polyostotic Osteolytic Dysplasia, Hereditary Expansile

Hepod

Expansile Osteolysis, Familial

Eof

Hereditary Expansile Polyostotic Osteolytic Dysplasia

Osteogenesis Imperfecta, Type I

Osteogenesis Imperfecta Type I

OI1

Oi, Type I

Osteogenesis Imperfecta Tarda

Osteogenesis Imperfecta With Blue Sclerae

Osteogenesis Imperfecta Type 1

Adair-Dighton Syndrome

Mild Osteogenesis Imperfecta

Non-Deforming Osteogenesis Imperfecta

Oi Type 1

Van Der Hoeve Syndrome

Classic Non-Deforming Oi With Blue Sclerae

Osteogenesis Imperfecta 1

Oi-I

Osteopenic Non-Fracture Syndrome

Osteogenesis Imperfecta, Mild

Osteogenesis Imperfecta

Lobstein'S Disease

Hemoglobin E Disease

Hemoglobin E

Hb-E Disease

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
Felis catus PDLIM1 VGNC VGNC:64089
Macaca mulatta PDLIM1 VGNC VGNC:103842
Mus musculus PDLIM1 MGD MGI:1860611
Canis familiaris PDLIM1 VGNC VGNC:53007
Bos taurus PDLIM1 VGNC VGNC:32707
Rattus norvegicus PDLIM1 RGD RGD:68324