2. Gene
  3. PEX5L - peroxisomal biogenesis factor 5 like Gene

PEX5L - peroxisomal biogenesis factor 5 like Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：过氧化物酶体生物发生因子 5

种属: Homo sapiens

同用名: PXR2; PEX5R; PXR2B; PEX5RP; TRIP8b

基因 ID: 51555 | 基因类型: protein coding

关于 PEX5L

Cytogenetic location: 3q26.33 Genomic coordinates (GRCh38): 3:179,794,958-180,036,937 (from NCBI)

This gene has 18 transcripts (splice variants), 269 orthologues and 1 paralogue. Biased expression in brain (RPKM 6.5), testis (RPKM 0.6) and 1 other tissue.

功能概要

启用过氧化物酶体基质靶向信号 1 结合活性和小 GTPase 结合活性。预计参与将蛋白质导入过氧化物酶体基质、对接和调节 cAMP 介导的信号传导。预计在维持蛋白质定位和膜电位调节的上游或内部发挥作用。位于胞质溶胶中。受体复合体的一部分。 [由基因组资源联盟提供，2022 年 4 月]

Enables peroxisome matrix targeting signal-1 binding activity and small GTPase binding activity. Predicted to be involved in protein import into peroxisome matrix, docking and regulation of cAMP-mediated signaling. Predicted to act upstream of or within maintenance of protein location and regulation of membrane potential. Located in cytosol. Part of receptor complex. [provided by Alliance of Genome Resources, Apr 2022]

PEX5L 基因产物(28)

mRNA Protein Name
NM_001256750.2 NP_001243679.1 PEX5-related protein isoform 2
NM_001256751.2 NP_001243680.1 PEX5-related protein isoform 3
NM_001256752.2 NP_001243681.1 PEX5-related protein isoform 4
NM_001256753.2 NP_001243682.1 PEX5-related protein isoform 5
NM_001256754.2 NP_001243683.1 PEX5-related protein isoform 6
NM_001256755.2 NP_001243684.1 PEX5-related protein isoform 7
NM_001256756.2 NP_001243685.1 PEX5-related protein isoform 8
NM_001349386.2 NP_001336315.1 PEX5-related protein isoform 9
NM_001349387.2 NP_001336316.1 PEX5-related protein isoform 10
NM_001349388.2 NP_001336317.1 PEX5-related protein isoform 10
NM_001349389.2 NP_001336318.1 PEX5-related protein isoform 11
NM_001349390.2 NP_001336319.1 PEX5-related protein isoform 12
NM_001349391.2 NP_001336320.1 PEX5-related protein isoform 13
NM_001349392.2 NP_001336321.1 PEX5-related protein isoform 14
NM_001349393.2 NP_001336322.1 PEX5-related protein isoform 14
NM_001349394.2 NP_001336323.1 PEX5-related protein isoform 15
NM_001349395.2 NP_001336324.1 PEX5-related protein isoform 6
NM_001349396.2 NP_001336325.1 PEX5-related protein isoform 16
NM_001349397.2 NP_001336326.1 PEX5-related protein isoform 17
NM_001349398.2 NP_001336327.1 PEX5-related protein isoform 18
NM_001349399.2 NP_001336328.1 PEX5-related protein isoform 8
NM_001349401.2 NP_001336330.1 PEX5-related protein isoform 8
NM_001349404.2 NP_001336333.1 PEX5-related protein isoform 8
NM_001349406.2 NP_001336335.1 PEX5-related protein isoform 8
NM_001349408.2 NP_001336337.1 PEX5-related protein isoform 8
NM_001349409.2 NP_001336338.1 PEX5-related protein isoform 8
NM_001349410.2 NP_001336339.1 PEX5-related protein isoform 8
NM_016559.3 NP_057643.1 PEX5-related protein 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 peroxisome matrix targeting signal-1 binding IDA
IDA: 通过直接分析推断
11463335 GOA
enables peroxisome targeting sequence binding IDA
IDA: 通过直接分析推断
18346465 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
25800552 GOA
enables small GTPase binding IPI
IPI: 通过物理相互作用推断
18346465 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
11463335 GOA
part of receptor complex IDA
IDA: 通过直接分析推断
23382219 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

PEX5L 蛋白结构

TPR_1

TPR_1: Tetratricopeptide repeat (360 - 393)

TPR_11

TPR_11: TPR repeat (478 - 539)

TPR_1

TPR_1: Tetratricopeptide repeat (544 - 573)

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

PEX5-related protein

HCN channel auxiliary subunit

关联疾病

疾病名称 别名
Rhizomelic Chondrodysplasia Punctata, Type 5

Rhizomelic Chondrodysplasia Punctata Type 5

RCDP5

Rhizomelic Chondrodysplasia Punctata 5

Chondrodysplasia Punctata, Rhizomelic, Type 5
Rhizomelic Chondrodysplasia Punctata, Type 1

Rhizomelic Chondrodysplasia Punctata Type 1

RCDP1

Peroxisome Biogenesis Disorder 9

Pbd9

Chondrodysplasia Punctata, Rhizomelic Form

Cdpr

Chondrodystrophia Calcificans Punctata

Rhizomelic Chondrodysplasia Punctata 1

Chondrodysplasia Punctata, Rhizomelic, Type 1

Chondrodysplasia Punctata, Rhizomelic
Rhizomelic Chondrodysplasia Punctata

Chondrodysplasia Punctata, Rhizomelic

Rcdp

Chondrodysplasia Punctata, Rhizomelic Form

Rcp

Chondrodysplasia Punctata Rhizomelic
Peroxisomal Biogenesis Disorder

Zellweger Spectrum Disorders

Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum

Disorders Of Peroxisome Biogenesis

Zellweger Spectrum

Zellweger Syndrome Spectrum

Peroxisomal Biogenesis Disorders

Pbd, Zss

Pbd-Zsd

Pbd-Zss

Pbd-Zellweger Spectrum Disorder

Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum

Peroxisome Biogenesis Disorder

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorders

Zellweger Spectrum Disorder

Hyperpipecolic Acidaemia
Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder

Infantile Refsum Disease

Infantile Phytanic Acid Storage Disease

PBD1B

Refsum Disease, Infantile

Adrenoleukodystrophy, Autosomal Neonatal

Ird

Mild Pbd-Zsd

Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Pbd-Zsd

Peroxisome Biogenesis Disorder Spectrum

Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Autosomal Neonatal Adrenoleukodystrophy

Refsum Disease Infantile

Peroxisome Biogenesis Disorders

Peroxisome Biogenesis Disorder, Type 1b
Zellweger Syndrome

Cerebrohepatorenal Syndrome

Zellweger Leukodystrophy

Zs

Congenital Iron Overload

Chr

Zws

Severe Pbd-Zsd

Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Childhood Absence Epilepsy

Pyknolepsy

Petit Mal Epilepsy

Absence Seizures

Absence Seizure

Petit Mal Seizure

Absence Epilepsy, Childhood

Pykno-Epilepsy

Epilepsy, Absence

Absence Epilepsy

Pycnolepsy
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10352 PEX5L Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PEX5L VGNC VGNC:75889
Bos taurus PEX5L VGNC VGNC:32762
Mus musculus PEX5L MGD MGI:1916672
Canis familiaris PEX5L VGNC VGNC:44436
Felis catus PEX5L VGNC VGNC:64116
Rattus norvegicus PEX5L RGD RGD:708407
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