2. Gene
  3. SETD1A - SET domain containing 1A, histone lysine methyltransferase Gene

SETD1A - SET domain containing 1A, histone lysine methyltransferase Gene

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

中文名称：含 SET 域 1A，组蛋白赖氨酸甲基转移酶

种属: Homo sapiens

同用名: Set1; EPEDD; KMT2F; Set1A; NEDSID

基因 ID: 9739 | 基因类型: protein coding

关于 SETD1A

Cytogenetic location: 16p11.2 Genomic coordinates (GRCh38): 16:30,957,754-30,984,664 (from NCBI)

This gene has 5 transcripts (splice variants), 67 orthologues, 19 paralogues and is associated with 2 phenotypes. Ubiquitous expression in testis (RPKM 10.6), bone marrow (RPKM 6.2) and 25 other tissues.

功能概要

由该基因编码的蛋白质是组蛋白甲基转移酶 (HMT) 复合物的组成部分，该复合物在 Lys4 位点产生单甲基化、二甲基化和三甲基化组蛋白 H3。组蛋白 H3 在赖氨酸 4 (H3K4me3) 处的三甲基化是一种染色质修饰，已知通常标记活性基因的转录起始位点。该蛋白质包含 SET 结构域，一个 RNA 识别基序结构域，是类 V 类 SAM 结合甲基转移酶超家族的成员。[RefSeq 提供，2016 年 12 月]

The protein encoded by this gene is a component of a Histone Methyltransferase (HMT) complex that produces mono-, di-, and trimethylated histone H3 at Lys4. Trimethylation of histone H3 at lysine 4 (H3K4me3) is a chromatin modification known to generally MARK the transcription start sites of active genes. The protein contains SET domains, a RNA recognition motif domain and is a member of the class V-like SAM-binding methyltransferase superfamily. [provided by RefSeq, Dec 2016]

SETD1A 基因产物(1)

mRNA Protein Name
NM_014712.3 NP_055527.1 histone-lysine N-methyltransferase SETD1A
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 RNA binding IDA
IDA: 通过直接分析推断
38003223 GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
IPI: 通过物理相互作用推断
27141965 GOA
enables beta-catenin binding IPI
IPI: 通过物理相互作用推断
22723415 GOA
enables histone H3K4 methyltransferase activity IDA
IDA: 通过直接分析推断
20862685 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12670868 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in brain development IMP
IMP: 通过突变表型推断
31197650 GOA
involved in regulation of chromatin organization IDA
IDA: 通过直接分析推断
27141965 GOA
involved in regulation of hematopoietic stem cell differentiation IDA
IDA: 通过直接分析推断
27141965 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Set1C/COMPASS complex IDA
IDA: 通过直接分析推断
17998332 GOA
part of Set1C/COMPASS complex IPI
IPI: 通过物理相互作用推断
23508102 GOA
located in chromatin IDA
IDA: 通过直接分析推断
27141965 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
38003223 GOA
part of histone methyltransferase complex IDA
IDA: 通过直接分析推断
17355966 GOA
located in nuclear speck IDA
IDA: 通过直接分析推断
38003223 GOA
located in nucleus IDA
IDA: 通过直接分析推断
17500065 GOA
located in nucleus IMP
IMP: 通过突变表型推断
22723415 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

SETD1A 蛋白结构

RRM_1

RRM_1: RNA recognition motif. (a.k.a. RRM, RBD, or RNP domain) (101 - 165)

N-SET

N-SET: COMPASS (Complex proteins associated with Set1p) component N (1418 - 1558)

SET

SET: SET domain (1580 - 1684)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1707 a.a.
蛋白主名 其他名称

histone-lysine N-methyltransferase SETD1A

SET domain-containing protein 1A

SETD1A 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
SETD1A O15047 RBBP5 Homo sapiens Q15291
Anti Tag CoIP
23870121
种属内
SETD1A O15047 RBBP5 Homo sapiens Q15291
Anti Bait CoIP
23870121
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
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies

NEDSID
Epilepsy, Early-Onset, With Or Without Developmental Delay

EPEDD
Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1
Non-Specific Syndromic Intellectual Disability

Complex Neurodevelopmental Disorder
Childhood Central Nervous System Mature Teratoma
Central Nervous System Mature Teratoma

Mature Teratoma Of The Cns
Kleefstra Syndrome 2

KLEFS2

Kleefstra Syndrome, Type 2
Kabuki Syndrome 1

Kabuki Syndrome

Niikawa-Kuroki Syndrome

Kabuki Make-Up Syndrome

Kms

KABUK1

Kabuki Make Up Syndrome

Nks

Kabuki Makeup Syndrome

Kabuki Syndrome, Type 1
Malt Worker'S Lung

Alveolitis Due To Aspergillus Clavatus

Malt Worker Lung

Malt Workers' Lung

Malt-Workers' Lung

Malt Fever

Malt House Workers' Cough

Malt-Workers' Alveolitis

Malt-Workers' Lung Disease

Alveolitis Due To Aspergillus Fumigatus

Extrinsic Allergic Alveolitis Due To Aspergillus Spp
Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders
Myopathy, Centronuclear, 1

Autosomal Dominant Centronuclear Myopathy

CNM1

Centronuclear Myopathy 1

Ad-Cnm

Myopathy, Centronuclear, Autosomal Dominant

Myotubular Myopathy, Autosomal Dominant

Centronuclear Myopathy, Autosomal, Modifier Of

Autosomal Dominant Myotubular Myopathy

Dnm2-Related Centronuclear Myopathy

Centronuclear Myopathy Autosomal Dominant

Myopathies, Structural, Congenital

Myopathy, Centronuclear, Type 1
Kleefstra Syndrome

9q34.3 Microdeletion Syndrome

9q Subtelomeric Deletion Syndrome

9q- Syndrome

Chromosome 9q Deletion Syndrome

9q34.3 Deletion Syndrome

9qstds

Chromosome 9q34.3 Deletion Syndrome

Chromosome 9, Trisomy 9q
Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS12740 SETD1A Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus SETD1A VGNC VGNC:34492
Mus musculus SETD1A MGD MGI:2446244
Felis catus SETD1A VGNC VGNC:65039
Canis familiaris SETD1A VGNC VGNC:46052
Rattus norvegicus SETD1A RGD RGD:1311624
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