1. Gene
  2. LLGL1 - LLGL scribble cell polarity complex component 1 Gene

LLGL1 - LLGL scribble cell polarity complex component 1 Gene

中文名称:LLGL scribble 细胞极性复数组分 1

种属: Homo sapiens

同用名: DLG4; HUGL; LLGL; Lgl1; Mgl1; HUGL1; HUGL-1

基因 ID: 3996 | 基因类型: protein coding

关于 LLGL1

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:18,225,635-18,244,875 (from NCBI)

This gene has 2 transcripts (splice variants), 1 gene allele, 206 orthologues and 3 paralogues. Ubiquitous expression in brain (RPKM 15.9), testis (RPKM 7.8) and 23 other tissues.

功能概要

该基因编码的蛋白质类似于果蝇中的肿瘤抑制因子。该蛋白质是细胞骨架网络的一部分,与非肌肉肌球蛋白 II 重链和一种激酶相关,该激酶可在丝氨酸残基处特异性磷酸化该蛋白质。该基因位于 17 号染色体上的 Smith-Magenis 综合征区域内。[RefSeq 提供,2008 年 7 月]

This gene encodes a protein that is similar to a tumor suppressor in Drosophila. The protein is part of a cytoskeletal network and is associated with nonmuscle Myosin II heavy chain and a kinase that specifically phosphorylates this protein at serine residues. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

LLGL1 基因产物(1)

mRNA Protein Name
NM_004140.4 NP_004131.4 lethal(2) giant larvae protein homolog 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
7542763 GOA
enables protein kinase binding IDA
IDA: 通过直接分析推断
7542763 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cortical actin cytoskeleton organization IDA
IDA: 通过直接分析推断
7542763 GOA
involved in protein-containing complex assembly IDA
IDA: 通过直接分析推断
7542763 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cortical actin cytoskeleton IDA
IDA: 通过直接分析推断
7542763 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
7542763 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

LLGL1 蛋白结构

LLGL

LLGL: LLGL2 (277 - 380)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1064 a.a.
蛋白主名 其他名称

lethal(2) giant larvae protein homolog 1

LLGL1, scribble cell polarity complex component

LLGL1 抗体

目录号 产品名 应用 反应物种
HY-P83298 LLGL1 Antibody (YA3043) WB, IP Human

关联疾病

疾病名称 别名
Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p

Alzheimer Disease 12

Ad12

Alzheimer'S Disease 12

Alzheimer Disease, Familial, 12

Alzheimer Disease Familial 12

Alzheimer Disease 5

Ad5

Alzheimer'S Disease 5

Alzheimer Disease, Familial, 5

Alzheimer Disease-5

Alzheimer Disease, Familial 5

Alzheimer'S Disease 5, Late Onset

Alzheimer Disease, Familial, Type 5

Potocki-Lupski Syndrome

PTLS

Chromosome 17p11.2 Duplication Syndrome

17p11.2 Microduplication Syndrome

Duplication 17p11.2 Syndrome

Trisomy 17p11.2

Potocki-Lupski Syndrome (Dup(17)(P11.2p11.2))

17p11.2 Duplication Syndrome

Dup(17)(P11.2p11.2)

Pls

Chromosome 17, Trisomy 17p11 2

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Melanoma

Malignant Melanoma

Cutaneous Melanoma

Naevocarcinoma

Malignant Melanomas

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 LLGL1 VGNC VGNC:99165
Rattus norvegicus LLGL1 RGD RGD:3012
Mus musculus LLGL1 MGD MGI:102682
Canis familiaris LLGL1 VGNC VGNC:42704
Bos taurus LLGL1 VGNC VGNC:30915
Felis catus LLGL1 VGNC VGNC:68060