1. Gene
  2. NUMB - NUMB endocytic adaptor protein Gene

NUMB - NUMB endocytic adaptor protein Gene

中文名称:NUMB 内吞衔接蛋白

种属: Homo sapiens

同用名: S171; C14orf41; c14_5527

基因 ID: 8650 | 基因类型: protein coding

关于 NUMB

Cytogenetic location: 14q24.2-q24.3 Genomic coordinates (GRCh38): 14:73,275,216-73,458,546 (from NCBI)

This gene has 28 transcripts (splice variants), 219 orthologues and 11 paralogues. Ubiquitous expression in lung (RPKM 25.7), gall bladder (RPKM 21.4) and 25 other tissues.

功能概要

由该基因编码的蛋白质在发育过程中决定细胞命运。编码的蛋白质,其降解是由 MDM2 以蛋白酶体依赖性方式诱导的,是一种膜结合蛋白,已被证明与 EPS15、LNX1 和 NOTCH1 相关。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 2 月]

The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that has been shown to associate with EPS15, LNX1, and NOTCH1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

NUMB 基因产物(5)

mRNA Protein Name
NM_001005743.2 NP_001005743.1 protein numb homolog isoform 1
NM_001005744.2 NP_001005744.1 protein numb homolog isoform 2
NM_001005745.2 NP_001005745.1 protein numb homolog isoform 4
NM_001320114.2 NP_001307043.1 protein numb homolog isoform 2
NM_003744.6 NP_003735.3 protein numb homolog isoform 3
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
16273093 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of protein localization to plasma membrane IMP
IMP: 通过突变表型推断
19581412 GOA
involved in positive regulation of cell migration IGI
IGI: 通过遗传相互作用推断
19581412 GOA
involved in positive regulation of cell migration IMP
IMP: 通过突变表型推断
19581412 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in clathrin-coated vesicle IDA
IDA: 通过直接分析推断
19581412 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

NUMB 蛋白结构

PID

PID: Phosphotyrosine interaction domain (PTB/PID) (39 - 171)

NumbF

NumbF: NUMB domain (257 - 339)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 600
  • 651 a.a.
蛋白主名 其他名称

protein numb homolog

h-Numb

NUMB 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
NUMB P49757 REPS1 Homo sapiens Q96D71
Pull Down
23211419
种属内
NUMB P49757 REPS1 Homo sapiens Q96D71
Anti Bait CoIP
23211419
种属内
NUMB P49757 TP53 Homo sapiens P04637
Anti Bait CoIP
18172499
种属内
NUMB P49757 TP53 Homo sapiens P04637
Anti Tag CoIP
18172499
种属内
NUMB P49757 MDM2 Homo sapiens Q00987
Anti Tag CoIP
18172499
种属内
NUMB P49757 MDM2 Homo sapiens Q00987
Anti Bait CoIP
18172499
种属内
NUMB P49757 EPS15 Homo sapiens P42566
Anti Bait CoIP
23211419
种属内
NUMB P49757 EPS15 Homo sapiens P42566
Pull Down
9303539
种属内
NUMB P49757 EPS15 Homo sapiens P42566
CoIP
9303539
种属内
NUMB P49757 CTNNB1 Homo sapiens P35222
Anti Bait CoIP
24561623
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, Uveal

Uveal Melanoma

Choroidal Melanoma

Melanoma Of Uvea

Iris Melanoma

Malignant Melanoma Of Choroid

Malignant Melanoma Of Iris

Maxillary Sinus Adenoid Cystic Carcinoma

Adenoid Cystic Carcinoma Of Maxillary Sinus

Adenoid Cystic Carcinoma Of The Maxillary Sinus

Tarp Syndrome

TARPS

Pierre Robin Syndrome With Congenital Heart Malformation And Clubfoot

Pierre Robin Sequence-Congenital Heart Defect-Talipes Syndrome

Pierre Robin Syndrome-Congenital Heart Defect-Talipes Syndrome

Talipes Equinovarus-Atrial Septal Defect-Robin Sequence-Persistence Of The Left Superior Vena Cava Syndrome

Talipes Equinovarus, Atrial Septal Defect, Robin Sequence, And Persistence Of Left Superior Vena Cava

Pierre Robin Sequence - Congenital Heart Defect - Talipes

Pierre Robin Syndrome - Congenital Heart Defect - Talipes

Talipes Equinovarus - Atrial Septal Defect - Robin Sequence - Persistence Of The Left Superior Vena Cava

Talipes Equinovarus Atrial Septal Defect Robin Sequence And Persistence Of Left Superior Vena Cava

Tactile Agnosia
Pericoronitis

Operculitis

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
Mus musculus NUMB MGD MGI:107423
Macaca mulatta NUMB VGNC VGNC:75557
Felis catus NUMB VGNC VGNC:68596
Canis familiaris NUMB VGNC VGNC:49933
Rattus norvegicus NUMB RGD RGD:620107
Bos taurus NUMB VGNC VGNC:50234