1. Gene
  2. PLEKHB1 - pleckstrin homology domain containing B1 Gene

PLEKHB1 - pleckstrin homology domain containing B1 Gene

中文名称:含 pleckstrin 同源结构域 B1

种属: Homo sapiens

同用名: KPL1; PHR1; PHRET1

基因 ID: 58473 | 基因类型: protein coding

关于 PLEKHB1

Cytogenetic location: 11q13.4 Genomic coordinates (GRCh38): 11:73,646,581-73,662,819 (from NCBI)

This gene has 22 transcripts (splice variants), 200 orthologues and 1 paralogue. Biased expression in brain (RPKM 91.0), thyroid (RPKM 7.0) and 2 other tissues.

功能概要

预测可实现蛋白质 C 末端结合活性和蛋白质同源二聚化活性。预计参与细胞分化的调节。是膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable protein C-terminus binding activity and protein homodimerization activity. Predicted to be involved in regulation of cell differentiation. Is integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]

PLEKHB1 基因产物(5)

mRNA Protein Name
NM_001130033.2 NP_001123505.1 pleckstrin homology domain-containing family B member 1 isoform c
NM_001130034.2 NP_001123506.1 pleckstrin homology domain-containing family B member 1 isoform b
NM_001130035.2 NP_001123507.1 pleckstrin homology domain-containing family B member 1 isoform d
NM_001130036.2 NP_001123508.1 pleckstrin homology domain-containing family B member 1 isoform d
NM_021200.3 NP_067023.1 pleckstrin homology domain-containing family B member 1 isoform a
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
24705354 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in membrane IDA
IDA: 通过直接分析推断
10585447 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

pleckstrin homology domain-containing family B member 1

PH domain containing, retinal 1

PLEKHB1 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
PLEKHB1 Q9UF11 RAP1GDS1 Homo sapiens P52306 25416956
种属内
PLEKHB1 Q9UF11 RAP1GDS1 Homo sapiens P52306 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
Retinitis Pigmentosa 56

RP56

Maculopathy, Impg2-Related

MACLP-IMPG2

Retinitis Pigmentosa, Type 56

Wallerian Degeneration

Wallerian Degeneration Of The Pyramidal Tract

Female Breast Cancer

Female Breast Carcinoma

Carcinoma Of Female Breast

Mammary Carcinoma Of Female Breast

Malignant Neoplasm Of Female Breast

Amyotrophic Lateral Sclerosis Type 12

Amyotrophic Lateral Sclerosis 12

Als12

Sclerosis, Lateral, Amyotrophic, Type Type 12

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
Macaca mulatta PLEKHB1 VGNC VGNC:76069
Felis catus PLEKHB1 VGNC VGNC:64221
Bos taurus PLEKHB1 VGNC VGNC:33009
Canis familiaris PLEKHB1 VGNC VGNC:44672
Mus musculus PLEKHB1 MGD MGI:1351469
Rattus norvegicus PLEKHB1 RGD RGD:621614