2. Gene
  3. L3MBTL3 - L3MBTL histone methyl-lysine binding protein 3 Gene

L3MBTL3 - L3MBTL histone methyl-lysine binding protein 3 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：L3MBTL 组蛋白甲基-赖氨酸结合蛋白 3

种属: Homo sapiens

同用名: MBT1; MBT-1

基因 ID: 84456 | 基因类型: protein coding

关于 L3MBTL3

Cytogenetic location: 6q23.1 Genomic coordinates (GRCh38): 6:130,018,581-130,141,438 (from NCBI)

This gene has 10 transcripts (splice variants), 169 orthologues and 18 paralogues. Ubiquitous expression in endometrium (RPKM 5.0), spleen (RPKM 4.6) and 24 other tissues.

功能概要

该基因编码染色质相互作用转录抑制因子恶性脑肿瘤 (MBT) 家族的成员。这个家族的成员作为甲基赖氨酸阅读器发挥作用，识别组蛋白尾部的甲基化赖氨酸残基，并与基因表达的抑制有关。编码的蛋白质可以调节造血功能。已在患有髓母细胞瘤的人类患者中观察到该基因的纯合缺失。[RefSeq 提供，2016 年 10 月]

This gene encodes a member of the malignant brain tumor (MBT) family of chromatin interacting transcriptional repressors. Members of this family function as methyl-lysine readers, which recognize methylated lysine residues on histone protein tails, and are associated with the repression of gene expression. The encoded protein may regulate hematopoiesis. Homozygous deletion of this gene has been observed in human patients with medulloblastoma. [provided by RefSeq, Oct 2016]

L3MBTL3 基因产物(4)

mRNA Protein Name
NM_001007102.4 NP_001007103.1 lethal(3)malignant brain tumor-like protein 3 isoform b
NM_001346550.2 NP_001333479.1 lethal(3)malignant brain tumor-like protein 3 isoform b
NM_001346551.2 NP_001333480.1 lethal(3)malignant brain tumor-like protein 3 isoform b
NM_032438.4 NP_115814.1 lethal(3)malignant brain tumor-like protein 3 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 chromatin binding IDA
IDA: 通过直接分析推断
33980486 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
21516116 GOA
enables methylation-dependent protein binding IPI
IPI: 通过物理相互作用推断
29691401 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
17517653 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
29030483 GOA
involved in positive regulation of ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
29691401 GOA
involved in regulation of DNA methylation-dependent heterochromatin formation IDA
IDA: 通过直接分析推断
33980486 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in nucleus IDA
IDA: 通过直接分析推断
33980486 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

L3MBTL3 蛋白结构

MBT

MBT: mbt repeat (268 - 340)

MBT

MBT: mbt repeat (375 - 444)

MBT

MBT: mbt repeat (479 - 543)

SAM_1

SAM_1: SAM domain (Sterile alpha motif) (706 - 770)

  • 0
  • 200
  • 400
  • 600
  • 780 a.a.
蛋白主名 其他名称

lethal(3)malignant brain tumor-like protein 3

H-l(3)mbt-like protein 3

关联疾病

疾病名称 别名
Lipodystrophy, Familial Partial, Type 1

FPLD1

Familial Partial Lipodystrophy Type 1

Familial Partial Lipodystrophy, Kobberling Type

Lipodystrophy, Familial Partial, Kobberling Type

Familial Partial Lipodystrophy Kobberling Type

Familial Partial Lipodystrophy Type Köbberling

Familial Partial Lipodystrophy, Köbberling Type

Familial Partial Lipodystrophy, Type 1
N Syndrome

NSX

Intellectual Disability, Malformations, Chromosome Breakage, And Development Of T-Cell Leukemia
Medulloblastoma

MDB

Cpnet

Localized Primitive Neuroectodermal Tumor

Classic Medulloblastoma

Medulloblastoma Predisposition Syndrome

Medulloblastoma, Somatic

Brain Medulloblastoma

Cns Pnet

Infratentorial Primitive Neuroectodermal Tumor

Neuroectodermal Tumors, Primitive

Medulloblastomas

Desmoplastic Medulloblastoma

Medulloblastoma, With Extensive Nodularity

Medulloblastoma Of Unspecified Site

Medullomyoblastoma Of Unspecified Site
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

相关产品

Pre-clinical Phase
生物活性分子 (6)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-15649 UNC1215 98.47% 否
HY-15839 UNC 669 Inhibitor 99.74% 否
HY-16510 UNC926 Inhibitor 99.82% 否
HY-16510A UNC926 hydrochloride Inhibitor / 否
HY-18372 UNC1021 Inhibitor 96.02% 否
HY-RS07486 L3MBTL3 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 L3MBTL3 MGD MGI:2143628
Macaca mulatta L3MBTL3 VGNC VGNC:74106
Canis familiaris L3MBTL3 VGNC VGNC:53732
Rattus norvegicus L3MBTL3 RGD RGD:1305474
Felis catus L3MBTL3 VGNC VGNC:63183
Bos taurus L3MBTL3 VGNC VGNC:50640
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