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

L3MBTL3 - L3MBTL histone methyl-lysine binding protein 3 Gene

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

L3MBTL3 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
L3MBTL3 Q96JM7 OAZ3 Homo sapiens Q9UMX2
Y2H Prey Pooling
25416956
种属内
L3MBTL3 Q96JM7 OAZ3 Homo sapiens Q9UMX2
Y2H Array
25416956
种属内
L3MBTL3 Q96JM7 NGB Homo sapiens Q9NPG2
Validated Y2H
25416956
种属内
L3MBTL3 Q96JM7 PRKAA1 Homo sapiens Q13131
Y2H Prey Pooling
25416956
种属内
L3MBTL3 Q96JM7 PRKAA2 Homo sapiens P54646
Y2H Prey Pooling
25416956
种属内
L3MBTL3 Q96JM7 PRKAA2 Homo sapiens P54646
Y2H Array
25416956
种属内
L3MBTL3 Q96JM7 PDE6G Homo sapiens P18545
Validated Y2H
25416956
种属内
L3MBTL3 Q96JM7 PDE6G Homo sapiens P18545
Y2H Array
25416956
种属内
L3MBTL3 Q96JM7 L3MBTL3 Homo sapiens Q96JM7
Y2H Array
25416956
种属内
L3MBTL3 Q96JM7 SAMD1 Homo sapiens Q6SPF0
Anti Tag CoIP
26496610
种属内
L3MBTL3 Q96JM7 L3MBTL3 Homo sapiens Q96JM7
Y2H
21516116
种属内
L3MBTL3 Q96JM7 PHC2 Homo sapiens Q8IXK0
Y2H
21516116
种属内
L3MBTL3 Q96JM7 BANP Homo sapiens Q8N9N5
Y2H Array
31515488
种属内
L3MBTL3 Q96JM7 BANP Homo sapiens Q8N9N5
Y2H Prey Pooling
25416956
种属内
L3MBTL3 Q96JM7 PHC2 Homo sapiens Q8IXK0
Y2H Array
25416956
种属内
L3MBTL3 Q96JM7 SAMD1 Homo sapiens Q6SPF0
TAP
24981860
种属内
L3MBTL3 Q96JM7 SAMD1 Homo sapiens Q6SPF0
TAP
27705803
种属内
L3MBTL3 Q96JM7 L3MBTL3 Homo sapiens Q96JM7
Y2H Array
31515488
种属内
L3MBTL3 Q96JM7 DNMT1 Homo sapiens P26358
Anti Bait CoIP
29691401
种属内
L3MBTL3 Q96JM7 SAMD1 Homo sapiens Q6SPF0
Anti Tag CoIP
33961781
种属内
L3MBTL3 Q96JM7 BANP Homo sapiens Q8N9N5
Y2H Array
25416956
种属内
L3MBTL3 Q96JM7 THRA Homo sapiens P10827
Y2H Prey Pooling
25416956
种属内
L3MBTL3 Q96JM7 THRA Homo sapiens P10827
Validated Y2H
25416956
种属内
L3MBTL3 Q96JM7 DCAF5 Homo sapiens Q96JK2
Anti Tag CoIP
29691401
种属内
L3MBTL3 Q96JM7 DCAF5 Homo sapiens Q96JK2
Anti Bait CoIP
29691401
种属内
L3MBTL3 Q96JM7 DDB1 Homo sapiens Q16531
Anti Bait CoIP
29691401
种属内
L3MBTL3 Q96JM7 BYSL Homo sapiens Q13895
Validated Y2H
25416956
种属内
L3MBTL3 Q96JM7 BYSL Homo sapiens Q13895
Y2H Array
25416956
种属内
L3MBTL3 Q96JM7 BYSL Homo sapiens Q13895
Y2H Prey Pooling
25416956
种属内
L3MBTL3 Q96JM7 POLR2L Homo sapiens P62875
Y2H Prey Pooling
25416956
种属内
L3MBTL3 Q96JM7 POLR2L Homo sapiens P62875
Validated Y2H
25416956
种属内
L3MBTL3 Q96JM7 POLR2L Homo sapiens P62875
Y2H Array
25416956
种属内
L3MBTL3 Q96JM7 SNRPB Homo sapiens P14678-2
Validated Y2H
25416956
种属内
L3MBTL3 Q96JM7 SNRPB Homo sapiens P14678-2
Y2H Array
25416956
种属内
L3MBTL3 Q96JM7 LSM4 Homo sapiens Q9Y4Z0
Y2H Array
25416956
种属内
L3MBTL3 Q96JM7 LSM4 Homo sapiens Q9Y4Z0
Y2H Prey Pooling
25416956
种属内
L3MBTL3 Q96JM7 MORF4L1 Homo sapiens Q9UBU8
Y2H Prey Pooling
25416956
种属内
L3MBTL3 Q96JM7 MORF4L1 Homo sapiens Q9UBU8
Y2H Array
25416956
种属内
L3MBTL3 Q96JM7 MORF4L1 Homo sapiens Q9UBU8
Validated Y2H
25416956
种属内
L3MBTL3 Q96JM7 MORF4L2 Homo sapiens Q15014
Y2H Prey Pooling
25416956
种属内
L3MBTL3 Q96JM7 MORF4L2 Homo sapiens Q15014
Validated Y2H
25416956
种属内
L3MBTL3 Q96JM7 MORF4L2 Homo sapiens Q15014
Y2H Array
25416956
种属内
L3MBTL3 Q96JM7 E2F1 Homo sapiens Q01094
Anti Tag CoIP
29691401
种属内
L3MBTL3 Q96JM7 ASB6 Homo sapiens Q9NWX5
Validated Y2H
25416956
种属内
L3MBTL3 Q96JM7 MAPK9 Homo sapiens P45984
Validated Y2H
25416956
种属内
L3MBTL3 Q96JM7 PHC2 Homo sapiens Q8IXK0
Validated Y2H
25416956
种属内
L3MBTL3 Q96JM7 PLEKHF2 Homo sapiens Q9H8W4
Y2H Prey Pooling
25416956
种属内
L3MBTL3 Q96JM7 PIK3R3 Homo sapiens Q8N381
Validated Y2H
25416956
种属内
L3MBTL3 Q96JM7 SP100 Homo sapiens P23497
Validated Y2H
25416956
种属内
L3MBTL3 Q96JM7 SP100 Homo sapiens P23497
Y2H Array
25416956
种属内
L3MBTL3 Q96JM7 SP100 Homo sapiens P23497
Y2H Prey Pooling
25416956
种属内
L3MBTL3 Q96JM7 E2F3 Homo sapiens O00716
Anti Tag CoIP
17517653
种属内
L3MBTL3 Q96JM7 TTC19 Homo sapiens Q6DKK2
Y2H Prey Pooling
25416956
种属内
L3MBTL3 Q96JM7 TTC19 Homo sapiens Q6DKK2
Validated Y2H
25416956
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
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

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