2. Gene
  3. MSL3 - MSL complex subunit 3 Gene

MSL3 - MSL complex subunit 3 Gene

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

中文名称：MSL 复杂亚基 3

种属: Homo sapiens

同用名: MRSXBA; MRXS36; MRXSBA; MSL3L1

基因 ID: 10943 | 基因类型: protein coding

关于 MSL3

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:11,758,159-11,775,772 (from NCBI)

This gene has 50 transcripts (splice variants), 234 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in lymph node (RPKM 13.7), appendix (RPKM 11.8) and 24 other tissues.

功能概要

该基因编码的核蛋白类似于果蝇雄性特异性 lethal-3 基因的产物。果蝇蛋白在剂量补偿途径中起着关键作用，该途径平衡雄性和雌性的 X 连锁基因表达。因此，人类蛋白质被认为在染色质重塑和转录调节中发挥相似的功能，并且它被发现是负责组蛋白 H4 赖氨酸 16 乙酰化的复合物的一部分。该基因可以进行 X 失活。可变剪接导致多个转录本变体。已在 2、7 和 8 号染色体上鉴定出相关的假基因。[RefSeq 提供，2010 年 7 月]

This gene encodes a nuclear protein that is similar to the product of the Drosophila male-specific lethal-3 gene. The Drosophila protein plays a critical role in a dosage-compensation pathway, which equalizes X-linked gene expression in males and females. Thus, the human protein is thought to play a similar function in chromatin remodeling and transcriptional regulation, and it has been found as part of a complex that is responsible for histone H4 lysine-16 acetylation. This gene can undergo X inactivation. Alternative splicing results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 2, 7 and 8. [provided by RefSeq, Jul 2010]

MSL3 基因产物(5)

mRNA Protein Name
NM_001193270.2 NP_001180199.1 male-specific lethal 3 homolog isoform e
NM_001282174.1 NP_001269103.1 male-specific lethal 3 homolog isoform f
NM_006800.4 NP_006791.2 male-specific lethal 3 homolog isoform c
NM_078628.2 NP_523352.1 male-specific lethal 3 homolog isoform d
NM_078629.4 NP_523353.2 male-specific lethal 3 homolog 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 DNA binding IDA
IDA: 通过直接分析推断
20657587 GOA
enables histone reader activity IDA
IDA: 通过直接分析推断
20657587 GOA
enables methylated histone binding IDA
IDA: 通过直接分析推断
20657587 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
30224647 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
20657587 GOA
involved in regulation of DNA-templated transcription IMP
IMP: 通过突变表型推断
30224647 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of MSL complex IDA
IDA: 通过直接分析推断
20018852 GOA
located in nucleus IDA
IDA: 通过直接分析推断
16227571 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

MSL3 蛋白结构

Tudor-knot

Tudor-knot: RNA binding activity-knot of a chromodomain (13 - 71)

MRG

MRG: MRG (156 - 504)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 521 a.a.
蛋白主名 其他名称

male-specific lethal 3 homolog

MSL3-like 1

MSL3 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
MSL3 Q8N5Y2 WFS1 Homo sapiens O76024
Validated Y2H
32814053
种属内
MSL3 Q8N5Y2 WFS1 Homo sapiens O76024
Y2H Array
32814053
种属内
MSL3 Q8N5Y2 WFS1 Homo sapiens O76024
Y2H Pooling
32814053
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
Basilicata-Akhtar Syndrome

Mrxs36

MRXSBA

Mental Retardation, X-Linked, Syndromic, Basilicata-Akhtar Type

Mental Retardation, X-Linked, Syndromic 36

X-Linked Syndromic Mental Retardation 36

X-Linked Syndromic Mental Retardation Basilicata-Akhtar Type
Non-Syndromic X-Linked Intellectual Disability 107

Mrx107

X-Linked Mental Retardation 107
Spastic Paraplegia 16, X-Linked

SPG16

Hereditary Spastic Paraplegia 16

X-Linked Spastic Paraplegia Type 16

Spastic Paraplegia 16, X-Linked, Complicated

X-Linked Spastic Paraplegia 16

Spastic Paraplegia 16

Spastic Paraplegia-16, X-Linked, Complicated
Atrial Septal Defect 3

ASD3

Atrial Heart Septal Defect 3

Septal Defect, Atrial, Type 3
Spastic Paraplegia 12, Autosomal Dominant

SPG12

Hereditary Spastic Paraplegia 12

Autosomal Dominant Spastic Paraplegia Type 12

Autosomal Dominant Spastic Paraplegia 12

Spastic Paraplegia 12

Spastic Paraplegia-12

Paraplegia, Spastic, Autosomal Dominant, Type 12
Aicardi Syndrome

AIC

Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality

Agenesis Of Corpus Callosum With Chorioretinal Abnormality

Aicardi'S Syndrome

Agenesis Of Corpus Callosum With Infantile Spasms And Ocular Abnormalities

Callosal Agenesis And Ocular Abnormalities

Chorioretinal Anomalies With Acc
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08718 MSL3 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS20775 Msl3 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS27289 Msl3 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus MSL3 RGD RGD:1549763
Macaca mulatta MSL3 VGNC VGNC:105245
Mus musculus MSL3 MGD MGI:1341851
Canis familiaris MSL3 VGNC VGNC:54173
Others MSL3 NCBI
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