1. Gene
  2. PHLDB1 - pleckstrin homology like domain family B member 1 Gene

PHLDB1 - pleckstrin homology like domain family B member 1 Gene

中文名称:pleckstrin 同源性样域家族 B 成员 1

种属: Homo sapiens

同用名: LL5A; LL5alpha

基因 ID: 23187 | 基因类型: protein coding

关于 PHLDB1

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,606,436-118,658,028 (from NCBI)

This gene has 27 transcripts (splice variants), 325 orthologues and 7 paralogues. Ubiquitous expression in fat (RPKM 23.2), brain (RPKM 15.4) and 23 other tissues.

功能概要

参与胚胎发育的调节;调节上皮间充质转化;和微管细胞骨架组织的调节。位于基底皮质。 [由基因组资源联盟提供,2022 年 4 月]

Involved in regulation of embryonic development; regulation of epithelial to mesenchymal transition; and regulation of microtubule Cytoskeleton organization. Located in basal cortex. [provided by Alliance of Genome Resources, Apr 2022]

PHLDB1 基因产物(3)

mRNA Protein Name
NM_001144758.3 NP_001138230.1 pleckstrin homology-like domain family B member 1 isoform a
NM_001144759.3 NP_001138231.1 pleckstrin homology-like domain family B member 1 isoform b
NM_015157.4 NP_055972.1 pleckstrin homology-like domain family B member 1 isoform a
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
21653829 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in basal cortex IDA
IDA: 通过直接分析推断
23940118 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

PHLDB1 蛋白结构

PH

PH: PH domain (1258 - 1365)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1377 a.a.
蛋白主名 其他名称

pleckstrin homology-like domain family B member 1

protein LL5-alpha

PHLDB1 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
PHLDB1 Q86UU1 FXR1 Homo sapiens P51114 21653829
种属内
PHLDB1 Q86UU1 FXR1 Homo sapiens P51114 21653829
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
Melanoma-Astrocytoma Syndrome

Melanoma And Neural System Tumor Syndrome

Melanoma Astrocytoma Syndrome

MASTS

Fibroosseous Pseudotumor Of Digits

Fibroosseous Digital Pseudotumor

Fibroosseous Pseudotumor Of The Digits

Mixed Glioma

Mixed Gliomas

Mixed Neuroglial Tumor

Glioma

Enchondromatosis, Multiple, Ollier Type

Ollier Disease

Enchondromatosis

Dyschondroplasia

Osteochondromatosis

Multiple Cartilaginous Enchondroses

Multiple Enchondromatosis

Enchondromatosis With Haemangiomata

Enchondromatosis, Multiple

Kast'S Syndrome

Ollier'S Syndrome

Enchondromatosis Multiple

ENCHOM

Maffucci Disease

Olliers Disease

Hereditary Multiple Exostoses

Chondromatosis

Li-Fraumeni Syndrome

Sarcoma Family Syndrome Of Li And Fraumeni

Sbla Syndrome

LFS

Li-Fraumeni Familiar Cancer Susceptibility Syndrome

Sarcoma, Breast, Leukaemia And Adrenal Gland Syndrome

Lfs1

Li Fraumeni Syndrome

Sarcoma, Breast, Leukemia, And Adrenal Gland Syndrome

Lfl

Sbla Syndrome Li-Fraumeni-Like Syndrome

Li-Fraumeni Syndrome 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

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta PHLDB1 VGNC VGNC:101378
Felis catus PHLDB1 VGNC VGNC:64149
Rattus norvegicus PHLDB1 RGD RGD:620878
Canis familiaris PHLDB1 VGNC VGNC:44502
Bos taurus PHLDB1 VGNC VGNC:32837
Mus musculus PHLDB1 MGD MGI:2143230