1. Gene
  2. PDLIM5 - PDZ and LIM domain 5 Gene

PDLIM5 - PDZ and LIM domain 5 Gene

中文名称:PDZ 和 LIM 域 5

种属: Homo sapiens

同用名: L9; ENH; LIM; ENH1

基因 ID: 10611 | 基因类型: protein coding

关于 PDLIM5

Cytogenetic location: 4q22.3 Genomic coordinates (GRCh38): 4:94,451,942-94,668,223 (from NCBI)

This gene has 23 transcripts (splice variants), 281 orthologues and 7 paralogues. Broad expression in heart (RPKM 70.2), prostate (RPKM 31.5) and 23 other tissues.

功能概要

该基因编码蛋白质家族的一个成员,该蛋白质家族在 N 末端具有 100 个氨基酸的 PDZ 结构域,在 C 末端具有一到三个 LIM 结构域。该家族成员作为一种支架蛋白发挥作用,将蛋白激酶拴在横纹肌的 Z 盘上。它被认为在心肌细胞扩张和抑制兴奋性突触的突触后生长中起作用。该基因的可变剪接导致多个转录变体。[RefSeq 提供,2012 年 1 月]

This gene encodes a member of a family of proteins that possess a 100-amino acid PDZ domain at the N terminus and one to three LIM domains at the C-terminus. This family member functions as a scaffold protein that tethers protein kinases to the Z-disk in striated muscles. It is thought to function in cardiomyocyte expansion and in restraining postsynaptic growth of excitatory synapses. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jan 2012]

PDLIM5 基因产物(9)

mRNA Protein Name
NM_001011513.4 NP_001011513.4 PDZ and LIM domain protein 5 isoform b
NM_001011515.3 NP_001011515.1 PDZ and LIM domain protein 5 isoform d
NM_001011516.3 NP_001011516.1 PDZ and LIM domain protein 5 isoform e
NM_001256425.2 NP_001243354.2 PDZ and LIM domain protein 5 isoform c
NM_001256426.2 NP_001243355.2 PDZ and LIM domain protein 5 isoform f
NM_001256427.2 NP_001243356.2 PDZ and LIM domain protein 5 isoform g
NM_001256428.2 NP_001243357.2 PDZ and LIM domain protein 5 isoform h
NM_001256429.2 NP_001243358.1 PDZ and LIM domain protein 5 isoform i
NM_006457.5 NP_006448.5 PDZ and LIM domain protein 5 isoform a
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
16549780 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

PDLIM5 蛋白结构

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (10 - 82)

LIM

LIM: LIM domain (420 - 473)

LIM

LIM: LIM domain (479 - 533)

LIM

LIM: LIM domain (538 - 590)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 596 a.a.
蛋白主名 其他名称

PDZ and LIM domain protein 5

enigma homolog

PDLIM5 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
PDLIM5 Q96HC4 CCDC136 Homo sapiens Q96JN2-2 25416956
种属内
PDLIM5 Q96HC4 KRT40 Homo sapiens Q6A162 25416956
种属内
PDLIM5 Q96HC4 KRTAP10-7 Homo sapiens P60409 25416956
种属内
PDLIM5 Q96HC4 JPH3 Homo sapiens Q8WXH2 32814053
种属内
PDLIM5 Q96HC4 JPH3 Homo sapiens Q8WXH2 32814053
种属内
PDLIM5 Q96HC4 JPH3 Homo sapiens Q8WXH2 32814053
种属内
PDLIM5 Q96HC4 ZYX Homo sapiens Q15942 25416956
种属内
PDLIM5 Q96HC4 ID2 Homo sapiens Q02363 16549780
种属内
PDLIM5 Q96HC4 ID2 Homo sapiens Q02363 16549780
种属内
PDLIM5 Q96HC4 ID2 Homo sapiens Q02363 16549780
种属内
PDLIM5 Q96HC4 GFAP Homo sapiens P14136 32814053
种属内
PDLIM5 Q96HC4 GFAP Homo sapiens P14136 32814053
种属内
PDLIM5 Q96HC4 GFAP Homo sapiens P14136 32814053
种属内
PDLIM5 Q96HC4 COIL Homo sapiens P38432 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
Nail-Patella Syndrome

Turner-Kieser Syndrome

Onychoosteodysplasia

Fong Disease

NPS

Hereditary Onycho-Osteodysplasia

Nps1

Hereditary Onychoostedysplasia

Iliac Horn Syndrome

Nail Patella Syndrome

Turner-Kiser Syndrome

Arthro-Onychodysplasia

Nps 1

Osteo-Onychodysplasia

Hereditary Osteo-Onychodysplasia

Osterreicher Syndrome

Pelvic Horn Syndrome

Österreicher-Turner Syndrome

Nps - [Nail-Patella Syndrome]

Hood - [Hereditary Onycho-Osteodysplasia] Syndrome

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Lissencephaly 3

LIS3

Lissencephaly Due To Tuba1a Mutation

Lissencephaly Type 3

Lissencephaly, Type 3

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Major Depressive Disorder

Seasonal Affective Disorder

Unipolar Depression

Depression

MDD

Depressive Disorder

Unipolar Depression, Susceptibility To

Major Depressive Disorder 1

Major Depressive Disorder, Response To Citalopram Therapy In

Major Depressive Disorder 2

Winter Depression

Single Major Depressive Episode

Sad

Clinical Depression

Major Depression

Depressive Syndrome

Major Depressive Disorder And Accelerated Response To Antidepressant Drug Treatment

Seasonal Affective Disorder, Susceptibility To

Recurrent Major Depression

Affective Disorder, Seasonal

Depression In A Seasonal Pattern

Depression

Seasonal

Major Depressive Disorder With A Seasonal Pattern

Seasonal Depression

Seasonal Mood Disorder

Mental Depression

Recurrent Major Depressive Episodes

Precursor T-Cell Acute Lymphoblastic Leukemia

T-All

Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma

Precursor T-Cell Acute Lymphocytic Leukemia

Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma

Precursor T-Cell Lymphoblastic Leukemia-Lymphoma

Adult T-Cell Lymphoma/Leukemia

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy

Primary Dilated Cardiomyopathy

Idiopathic Dilated Cardiomyopathy

Congestive Cardiomyopathy

Idiopathic Dilation Cardiomyopathy

Primary Familial Dilated Cardiomyopathy

Cardiomyopathy, Dilated

DCM

Cardiomyopathy, Familial Dilated

Dilated Cardiomyopathy, Familial

Hypokinetic Dilated Cardiomyopathy, Familial

Familial Idiopathic Cardiomyopathy

Fdc

Cardiomyopathy, Familial Idiopathic

Idiopathic Cardiomegaly

Dilated Congestive Cardiomyopathy

Chronic Dilated Cardiomyopathy

Ccm - [Congestive Cardiomyopathy]

Cocm - [Congestive Cardiomyopathy]

Dcm - [Dilated Cardiomyopathy]

Dilated-Hypokinetic Cardiomyopathy

Congestive Idiopathic Cardiomyopathy

Primary Idiopathic Dilated Cardiomyopathy

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
Bos taurus PDLIM5 VGNC VGNC:32711
Felis catus PDLIM5 VGNC VGNC:64092
Macaca mulatta PDLIM5 VGNC VGNC:75816
Canis familiaris PDLIM5 VGNC VGNC:44387
Rattus norvegicus PDLIM5 RGD RGD:621076
Mus musculus PDLIM5 MGD MGI:1927489
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