L3MBTL1 - L3MBTL histone methyl-lysine binding protein 1 Gene

中文名称：L3MBTL 组蛋白甲基赖氨酸结合蛋白 1

种属: Homo sapiens

同用名: L3MBTL; ZC2HC3; H-L(3)MBT; dJ138B7.3

基因 ID: 26013 | 基因类型: protein coding

关于 L3MBTL1

Cytogenetic location: 20q13.12 Genomic coordinates (GRCh38): 20:43,507,697-43,550,954 (from NCBI)

This gene has 33 transcripts (splice variants), 209 orthologues and 18 paralogues. Broad expression in testis (RPKM 4.3), brain (RPKM 2.6) and 23 other tissues.

功能概要

该基因代表多梳组基因。编码的蛋白质可能通过染色质修饰来调节基因活性。编码的蛋白质也可能是有丝分裂所必需的。已经识别出编码不同亚型的选择性剪接转录本变体。[RefSeq 提供，2010 年 9 月]

This gene represents a polycomb group gene. The encoded protein functions to regulate gene activity, likely via chromatin modification. The encoded protein may also be necessary for mitosis. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]

L3MBTL1 基因产物(9)

mRNA	Protein	Name
NM_001377303.1	NP_001364232.1	lethal(3)malignant brain tumor-like protein 1 isoform 3
NM_001377306.1	NP_001364235.1	lethal(3)malignant brain tumor-like protein 1 isoform 4
NM_001377307.1	NP_001364236.1	lethal(3)malignant brain tumor-like protein 1 isoform 5
NM_001377308.1	NP_001364237.1	lethal(3)malignant brain tumor-like protein 1 isoform 6
NM_001377309.1	NP_001364238.1	lethal(3)malignant brain tumor-like protein 1 isoform 7
NM_001377310.1	NP_001364239.1	lethal(3)malignant brain tumor-like protein 1 isoform 8
NM_001377311.1	NP_001364240.1	lethal(3)malignant brain tumor-like protein 1 isoform 9
NM_015478.7	NP_056293.4	lethal(3)malignant brain tumor-like protein 1 isoform 1
NM_032107.5	NP_115479.4	lethal(3)malignant brain tumor-like protein 1 isoform 2

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 SAM domain binding	IPI IPI: 通过物理相互作用推断	12588862	GOA
enables chromatin binding	IDA IDA: 通过直接分析推断	18408754	GOA
enables histone binding	IPI IPI: 通过物理相互作用推断	17540172	GOA
enables identical protein binding	IPI IPI: 通过物理相互作用推断	12588862	GOA
enables methylated histone binding	IDA IDA: 通过直接分析推断	19144645	GOA
enables methylated histone binding	IPI IPI: 通过物理相互作用推断	17540172	GOA
enables nucleosome binding	IDA IDA: 通过直接分析推断	17540172	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	12588862	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in chromatin organization	IDA IDA: 通过直接分析推断	17540172	GOA
involved in hemopoiesis	IEP IEP: 通过表达模式推断	15334543	GOA
involved in heterochromatin formation	IDA IDA: 通过直接分析推断	17540172	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: 通过直接分析推断	17540172	GOA
involved in negative regulation of DNA-templated transcription	IMP IMP: 通过突变表型推断	12588862	GOA
involved in regulation of megakaryocyte differentiation	IDA IDA: 通过直接分析推断	18474616	GOA
involved in regulation of mitotic nuclear division	IMP IMP: 通过突变表型推断	10445843	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in chromatin	IDA IDA: 通过直接分析推断	18408754	GOA
part of chromatin lock complex	IPI IPI: 通过物理相互作用推断	17540172	GOA
located in condensed chromosome	IDA IDA: 通过直接分析推断	10445843	GOA
NOT located in nucleolus	IDA IDA: 通过直接分析推断	10445843	GOA
located in nucleoplasm	IDA IDA: 通过直接分析推断	10445843	GOA
located in nucleus	IDA IDA: 通过直接分析推断	10445843	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

L3MBTL1 蛋白结构

MBT

zf-C2HC

0
200
400
600
840 a.a.

蛋白主名

其他名称

lethal(3)malignant brain tumor-like protein 1

L3MBTL1, histone methyl-lysine binding protein

关联疾病

疾病名称

别名

Brain Cancer

Adult Brain Tumor	Malignant Neoplasm Of Brain
Brain Neoplasms	Brain Neoplasm
Neoplasm Of Brain	Primary Malignant Neoplasm Of Brain
Brain Tumors	Adult Malignant Brain Neoplasm
Brain Neoplasm, Adult	Bt - Brain Tumour
Malignant Brain Tumour	Malignant Primary Brain Neoplasm
Malignant Primary Brain Tumor	Malignant Tumor Of Adult Brain
Malignant Tumor Of Brain	Primary Brain Neoplasm
Primary Brain Tumor	Tumor Of The Brain
Brain Tumor, Adult	Brain Tumor Primary
Malignant Primary Brain Tumors	Primary Brain Tumors
Cancer, Brain	Brain Tumor, Primary

Bardet-Biedl Syndrome 2

BBS2	Bardet-Biedl Syndrome
Bardet-Biedl Syndrome, Type 2	Bbs

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-15839	UNC 669	Inhibitor	99.74%	否
HY-16510	UNC926	Inhibitor	99.82%	否
HY-16510A	UNC926 hydrochloride	Inhibitor	/	否
HY-RS07484	L3MBTL1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	L3MBTL1	MGD	MGI:2676663
Canis familiaris	L3MBTL1	VGNC	VGNC:54652
Rattus norvegicus	L3MBTL1	RGD	RGD:1307316

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