1. Gene
  2. LAMTOR3 - late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 Gene

LAMTOR3 - late endosomal/lysosomal adaptor, MAPK and MTOR activator 3 Gene

中文名称:晚期内体/溶酶体衔接子、MAPK 和 MTOR 激活子 3

种属: Homo sapiens

同用名: MP1; MAPBP; MAPKSP1; PRO0633; MAP2K1IP1; Ragulator3

基因 ID: 8649 | 基因类型: protein coding

关于 LAMTOR3

Cytogenetic location: 4q23 Genomic coordinates (GRCh38): 4:99,878,336-99,894,546 (from NCBI)

This gene has 3 transcripts (splice variants) and 220 orthologues. Ubiquitous expression in thyroid (RPKM 13.3), brain (RPKM 11.2) and 25 other tissues.

功能概要

该基因编码一种在细胞外信号调节激酶 (ERK) 级联中起作用的支架蛋白。该蛋白通过丝裂原活化蛋白结合蛋白相互作用蛋白定位于晚期核内体,并特异性结合 MAP 激酶激酶 MAP2K1/MEK1、MAP 激酶 MAPK3/ERK1 和 MAP 激酶 MAPK1/ERK2。对小鼠直向同源基因的研究表明它调节晚期内体运输和细胞增殖。已经观察到该基因编码多种亚型的可变剪接转录物变体。该基因的假基因位于 13 号染色体的长臂上。[RefSeq 提供,2011 年 8 月]

This gene encodes a scaffold protein that functions in the extracellular signal-regulated kinase (ERK) cascade. The protein is localized to late endosomes by the mitogen-activated protein-binding protein-interacting protein, and binds specifically to MAP kinase kinase MAP2K1/MEK1, MAP kinase MAPK3/ERK1, and MAP kinase MAPK1/ERK2. Studies of the orthologous gene in mouse indicate that it regulates late endosomal traffic and cell proliferation. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A pseudogene of this gene is located on the long arm of chromosome 13. [provided by RefSeq, Aug 2011]

LAMTOR3 基因产物(2)

mRNA Protein Name
NM_001243736.1 NP_001230665.1 ragulator complex protein LAMTOR3 isoform 2
NM_021970.4 NP_068805.1 ragulator complex protein LAMTOR3 isoform 1

LAMTOR3 蛋白结构

MAPKK1_Int

MAPKK1_Int: Mitogen-activated protein kinase kinase 1 interacting (3 - 121)

  • 0
  • 100
  • 124 a.a.
蛋白主名 其他名称

ragulator complex protein LAMTOR3

MAPK scaffold protein 1

重组 LAMTOR3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P70931 MAPKSP1 Protein, Human (His) Q9UHA4 (M1-S124) ≥95%

关联疾病

疾病名称 别名
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency

MCC2D

Mcc2 Deficiency

3-Methylcrotonyl Coa Carboxylase 2 Deficiency

3-Methylcrotonylglycinuria Ii

Methylcrotonylglycinuria, Type Ii

3-Methylcrotonoyl-Coa Carboxylase 2 Deficiency

3-Methylcrotonylglycinuria Type Ii

Mcgii

Methylcrotonylglycinuria Type Ii

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 LAMTOR3 MGD MGI:1929467
Canis familiaris LAMTOR3 VGNC VGNC:42578
Rattus norvegicus LAMTOR3 RGD RGD:1307133
Bos taurus LAMTOR3 VGNC VGNC:30781
Macaca mulatta LAMTOR3 VGNC VGNC:100240
Others LAMTOR3 NCBI