2. Gene
  3. PLEKHM1 - pleckstrin homology and RUN domain containing M1 Gene

PLEKHM1 - pleckstrin homology and RUN domain containing M1 Gene

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

中文名称：含 pleckstrin 同源性和 RUN 结构域 M1

种属: Homo sapiens

同用名: B2; AP162; OPTA3; OPTB6

基因 ID: 9842 | 基因类型: protein coding

关于 PLEKHM1

Cytogenetic location: 17q21.31 Genomic coordinates (GRCh38): 17:45,434,209-45,490,721 (from NCBI)

This gene has 27 transcripts (splice variants), 1 gene allele, 224 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in esophagus (RPKM 12.9), bone marrow (RPKM 10.7) and 25 other tissues.

功能概要

该基因编码的蛋白质对于骨吸收至关重要，并且可能在破骨细胞的囊泡运输中发挥关键作用。该基因的突变与 6 型常染色体隐性骨硬化症 (OPTB6) 相关。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2009 年 9 月]

The protein encoded by this gene is essential for bone resorption, and may play a critical role in vesicular transport in the osteoclast. Mutations in this gene are associated with autosomal recessive osteopetrosis type 6 (OPTB6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]

PLEKHM1 基因产物(2)

mRNA Protein Name
NM_001352825.2 NP_001339754.1 pleckstrin homology domain-containing family M member 1 isoform 2
NM_014798.3 NP_055613.1 pleckstrin homology domain-containing family M member 1 isoform 1
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 protein binding IPI
IPI: 通过物理相互作用推断
25500191 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in autophagosome-lysosome fusion IMP
IMP: 通过突变表型推断
28325809 GOA
involved in late endosome to lysosome transport IMP
IMP: 通过突变表型推断
28325809 GOA
involved in lysosome localization IDA
IDA: 通过直接分析推断
28325809 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in autolysosome IDA
IDA: 通过直接分析推断
28325809 GOA
located in lysosome IDA
IDA: 通过直接分析推断
28325809 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

PLEKHM1 蛋白结构

RUN

RUN: RUN domain (50 - 181)

zf-RING_9

zf-RING_9: Putative zinc-RING and/or ribbon (846 - 1049)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1056 a.a.
蛋白主名 其他名称

pleckstrin homology domain-containing family M member 1

162 kDa adapter protein

PLEKHM1 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
Intra PLEKHM1 Q9Y4G2 VPS39 Homo sapiens Q96JC1
Anti Tag CoIP
28325809
Intra PLEKHM1 Q9Y4G2 VPS39 Homo sapiens Q96JC1
Y2H
28325809
Intra PLEKHM1 Q9Y4G2 VPS39 Homo sapiens Q96JC1
Anti Tag CoIP
33452816
Intra PLEKHM1 Q9Y4G2 RAB7A Homo sapiens P51149
Anti Tag CoIP
33452816
Intra PLEKHM1 Q9Y4G2 RAB7A Homo sapiens P51149
Confocal
27291868
Intra PLEKHM1 Q9Y4G2 RAB7A Homo sapiens P51149
Anti Tag CoIP
27291868
Intra PLEKHM1 Q9Y4G2 RAB7A Homo sapiens P51149
Y2H
28325809
Intra PLEKHM1 Q9Y4G2 VPS41 Homo sapiens P49754
Anti Tag CoIP
33452816
Intra PLEKHM1 Q9Y4G2 VPS41 Homo sapiens P49754
Pull Down
28325809
Intra PLEKHM1 Q9Y4G2 VPS41 Homo sapiens P49754
Anti Tag CoIP
28325809
Cross PLEKHM1 Q9Y4G2 sifA Salmonella typhimurium A0A0D6GID3
Anti Tag CoIP
25500191
Cross PLEKHM1 Q9Y4G2 sifA Salmonella typhimurium A0A0D6GID3
Pull Down
25500191
Intra PLEKHM1 Q9Y4G2 MTOR Homo sapiens P42345
Anti Tag CoIP
33452816
Intra PLEKHM1 Q9Y4G2 ARL8A Homo sapiens Q96BM9
Y2H
28325809
Intra PLEKHM1 Q9Y4G2 GABARAP Homo sapiens O95166
Pull Down
25500191
Intra PLEKHM1 Q9Y4G2 ARL8B Homo sapiens Q9NVJ2
Y2H
28325809
Intra PLEKHM1 Q9Y4G2 ARL8B Homo sapiens Q9NVJ2
Pull Down
28325809
Intra PLEKHM1 Q9Y4G2 ARL8B Homo sapiens Q9NVJ2
Anti Tag CoIP
28325809
Cross PLEKHM1 Q9Y4G2 RAB7A Canis familiaris P18067
Anti Tag CoIP
25500191
Cross PLEKHM1 Q9Y4G2 RAB7A Canis familiaris P18067
Confocal
25500191
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
Osteopetrosis, Autosomal Recessive 6

OPTB6

Autosomal Recessive Osteopetrosis 6

Autosomal Recessive Osteopetrosis Intermediate Form

Osteopetrosis, Autosomal Recessive, Intermediate Form

Osteopetrosis Autosomal Recessive 6

Autosomal Recessive Osteopetrosis Type 6

Osteopetrosis Autosomal Recessive Intermediate Form

Intermediate Osteopetrosis

Autosomal Recessive Intermediate Osteopetrosis

Osteopetrosis, Autosomal Recessive, Type 6
Osteopetrosis, Autosomal Dominant 3

OPTA3
Osteopetrosis

Marble Bone Disease

Albers-Schonberg Disease

Osteopetroses

Marble Bones

Osteopetrosis And Related Disorders

Congenital Osteopetrosis

Marble Bone

Albers-Schoenberg Disease

Albers-Schonberg Osteopetrosis

Osteosclerosis Fragilis

Ivory Bones
Osteopetrosis, Autosomal Recessive 2

OPTB2

Autosomal Recessive Osteopetrosis 2

Osteopetrosis, Mild Autosomal Recessive Form

Osteoclast-Poor Osteopetrosis

Osteopetrosis, Osteoclast-Poor

Mild Autosomal Recessive Form Osteopetrosis

Osteopetrosis Autosomal Recessive 2

Autosomal Recessive Osteopetrosis Type 2

Osteopetrosis Osteoclast-Poor

Osteopetrosis, Autosomal Recessive, Type 2
Pycnodysostosis

Pyknodysostosis

PKND

Pycd

Toulouse-Lautrec Syndrome
Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1
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-RS10697 PLEKHM1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Mus musculus PLEKHM1 MGD MGI:2443207
Bos taurus PLEKHM1 VGNC VGNC:57148
Rattus norvegicus PLEKHM1 RGD RGD:1308010
Macaca mulatta PLEKHM1 VGNC VGNC:99206
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