2. Gene
  3. SETDB1 - SET domain bifurcated histone lysine methyltransferase 1 Gene

SETDB1 - SET domain bifurcated histone lysine methyltransferase 1 Gene

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

中文名称：SET 结构域分叉组蛋白赖氨酸甲基转移酶 1

种属: Homo sapiens

同用名: ESET; KG1T; KMT1E; TDRD21; H3-K9-HMTase4

基因 ID: 9869 | 基因类型: protein coding

关于 SETDB1

Cytogenetic location: 1q21.3 Genomic coordinates (GRCh38): 1:150,926,263-150,964,737 (from NCBI)

This gene has 20 transcripts (splice variants), 246 orthologues, 19 paralogues and is associated with 79 phenotypes. Ubiquitous expression in testis (RPKM 14.6), spleen (RPKM 8.9) and 25 other tissues.

功能概要

该基因编码组蛋白甲基转移酶，该酶调节组蛋白甲基化、基因沉默和转录抑制。鉴于基因沉默和转录功能障碍可能在疾病发病机制中发挥作用，该基因已被确定为治疗亨廷顿病的靶标。已经描述了该基因的可变剪接转录变体。[RefSeq 提供，2011 年 6 月]

This gene encodes a Histone Methyltransferase which regulates histone methylation, gene silencing, and transcriptional repression. This gene has been identified as a target for treatment in Huntington Disease, given that gene silencing and transcription dysfunction likely play a role in the disease pathogenesis. Alternatively spliced transcript variants of this gene have been described.[provided by RefSeq, Jun 2011]

SETDB1 基因产物(14)

mRNA Protein Name
NM_001145415.2 NP_001138887.1 histone-lysine N-methyltransferase SETDB1 isoform 1
NM_001243491.2 NP_001230420.1 histone-lysine N-methyltransferase SETDB1 isoform 3
NM_001366417.1 NP_001353346.1 histone-lysine N-methyltransferase SETDB1 isoform 4
NM_001366418.1 NP_001353347.1 histone-lysine N-methyltransferase SETDB1 isoform 4
NM_001393958.1 NP_001380887.1 histone-lysine N-methyltransferase SETDB1 isoform 4
NM_001393959.1 NP_001380888.1 histone-lysine N-methyltransferase SETDB1 isoform 4
NM_001393960.1 NP_001380889.1 histone-lysine N-methyltransferase SETDB1 isoform 1
NM_001393961.1 NP_001380890.1 histone-lysine N-methyltransferase SETDB1 isoform 5
NM_001393964.1 NP_001380893.1 histone-lysine N-methyltransferase SETDB1 isoform 3
NM_001393965.1 NP_001380894.1 histone-lysine N-methyltransferase SETDB1 isoform 3
NM_001393966.1 NP_001380895.1 histone-lysine N-methyltransferase SETDB1 isoform 3
NM_001393967.1 NP_001380896.1 histone-lysine N-methyltransferase SETDB1 isoform 6
NM_001393968.1 NP_001380897.1 histone-lysine N-methyltransferase SETDB1 isoform 6
NM_012432.4 NP_036564.3 histone-lysine N-methyltransferase SETDB1 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 chromatin binding IDA
IDA: 通过直接分析推断
27029610 GOA
enables histone H3K9 methyltransferase activity IDA
IDA: 通过直接分析推断
14536086 GOA
enables histone H3K9 trimethyltransferase activity IDA
IDA: 通过直接分析推断
14536086 GOA
enables promoter-specific chromatin binding IDA
IDA: 通过直接分析推断
24623306 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16682412 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in positive regulation of DNA methylation-dependent heterochromatin formation IMP
IMP: 通过突变表型推断
24623306 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IMP
IMP: 通过突变表型推断
27732843 GOA
located in nucleus IMP
IMP: 通过突变表型推断
27732843 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

SETDB1 蛋白结构

MBD

MBD: Methyl-CpG binding domain (595 - 664)

Pre-SET

Pre-SET: Pre-SET motif (681 - 795)

SET

SET: SET domain (814 - 1266)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1000
  • 1200
  • 1291 a.a.
蛋白主名 其他名称

histone-lysine N-methyltransferase SETDB1

ERG-associated protein with a SET domain, ESET

SETDB1 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
Intra SETDB1 Q15047 MPHOSPH8 Homo sapiens Q99549
Anti Bait CoIP
26022416
Intra SETDB1 Q15047 MPHOSPH8 Homo sapiens Q99549
Anti Bait CoIP
20871592
Intra SETDB1 Q15047 AKT1 Homo sapiens P31749
Pull Down
17577629
Intra SETDB1 Q15047 AKT1 Homo sapiens P31749
Y2H
17577629
Intra SETDB1 Q15047 AKT1 Homo sapiens P31749
Anti Bait CoIP
17577629
Intra SETDB1 Q15047 AKT1 Homo sapiens P31749
Anti Tag CoIP
17577629
Intra SETDB1 Q15047 MCUB Homo sapiens Q9NWR8
Anti Tag CoIP
33961781
Intra SETDB1 Q15047 MBD1 Homo sapiens Q9UIS9
Y2H
17066076
Intra SETDB1 Q15047 DNMT3A Homo sapiens Q9Y6K1
IF
16682412
Intra SETDB1 Q15047 DNMT3A Homo sapiens Q9Y6K1
Anti Tag CoIP
16682412
Intra SETDB1 Q15047 DNMT3A Homo sapiens Q9Y6K1
Pull Down
16682412
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
Huntington Disease

Huntington'S Disease

Huntington Chorea

Huntington'S Chorea

HD

Huntington Chronic Progressive Hereditary Chorea

Juvenile Huntington Disease

Chronic Progressive Chorea

Chronic Progressive Hereditary Chorea

Hc - [Huntington Chorea]

Hereditary Chorea

Progressive Hereditary Chorea
Hyperoxaluria, Primary, Type I

Primary Hyperoxaluria Type 1

HP1

Glycolic Aciduria

Alanine-Glyoxylate Aminotransferase Deficiency

Hepatic Agt Deficiency

Oxalosis I

Primary Hyperoxaluria, Type I

Serine:Pyruvate Aminotransferase Deficiency

Hyperoxaluria, Primary, Type 1

Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency

Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency

Serine Pyruvate Aminotransferase Deficiency

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Oxalosis 1

Hyperoxaluria Primary 1

Hyperoxaluria Primary Type I

Ph1

Primary Hyperoxaluria Type I

Oxalosis Type 1

2-Oxoglutarate Glyoxylate Carboligase Deficiency
Primary Hyperoxaluria

Hyperoxaluria

Hyperoxaluria, Primary

Oxalosis

Primary Oxalosis

Congenital Oxaluria

D-Glycerate Dehydrogenase Deficiency

Glyceric Aciduria

Glycolic Aciduria

Hepatic Agt Deficiency

Oxaluria, Primary

Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency

Primary Oxaluria

Hyperoxaluria Primary

Primary Hyperoxaluria Type 2

Primary Hyperoxaluria, Type I
Prostate Squamous Cell Carcinoma

Squamous Cell Carcinoma Of Prostate
Prader-Willi Syndrome

Prader-Labhart-Willi Syndrome

PWS

Willi-Prader Syndrome

Prader-Willi Syndrome Due To Translocation

Prader-Willi Syndrome Due To Imprinting Mutation

Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15

Prader Willi Syndrome

Upd(15)Mat
Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome

Icf Syndrome

Immunodeficiency Syndrome, Variable

Ciid

Centromeric Instability, Immunodeficiency Syndrome

Immune Deficiency, Variable, With Centromeric Instability Of Chromosomes 1, 9, And 16

Icf
Transient Neonatal Diabetes Mellitus

Diabetes Mellitus, Transient Neonatal

Tndm

Chromosome 6-Associated Transient Diabetes Mellitus

Dmtn

Diabetes Mellitus, 6q24-Related Transient Neonatal

Tndm1

Neonatal Diabetes Mellitus, Transient

Tndm -[Transient Neonatal Diabetes Mellitus]
Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1
Autism Spectrum Disorder

Asd

Autism Spectrum Disorders

Autistic Continuum

Pervasive Developmental Disorder

Pervasive Development Disorder

Autistic Behavior

Autistic Disorder

Autistic

Autistic Disorder Of Childhood Onset

Infantile Autism

Childhood Autism

Kanner Syndrome

Pervasive Developmental Delay Nos

Pervasive Developmental Disorder, Not Otherwise Specified
Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic
Melanoma, Cutaneous Malignant 1

Familial Melanoma

Melanoma, Cutaneous Malignant, Susceptibility To, 1

Melanoma, Malignant

CMM1

Melanoma, Cutaneous Malignant

Cmm

Familial Atypical Mole-Malignant Melanoma Syndrome

Fammm

Melanoma, Familial

Mlm

Dysplastic Nevus Syndrome, Hereditary

Dns

B-K Mole Syndrome

Melanoma, Cutaneous Malignant, 1

Malignant Melanoma, Cutaneous

Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1

Dysplastic Nevus Syndrome

Cutaneous Melanoma

Familial Atypical Mole Melanoma Syndrome

Hereditary Melanoma
Alpha-Thalassemia

Alpha Thalassemia

Alpha Thalassaemia

Alpha Plus Thalassemia

Thalassemia, Alpha-

Thalassemias, Alpha-

A-Thalassemia

Α-Thalassemia

A-THAL

Thalassemia

Alpha Thalassaemia Syndrome
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-141539 SETDB1-TTD-IN-1 99.61% 否
HY-141539A SETDB1-TTD-IN-1 TFA 99.77% 否
HY-RS12748 SETDB1 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Felis catus SETDB1 VGNC VGNC:65048
Bos taurus SETDB1 VGNC VGNC:34499
Rattus norvegicus SETDB1 RGD RGD:1308370
Macaca mulatta SETDB1 VGNC VGNC:100139
Canis familiaris SETDB1 VGNC VGNC:46060
Mus musculus SETDB1 MGD MGI:1934229
Others SETDB1 NCBI
嗨！很高兴为您提供帮助！

尊敬的 MCE 客户您好，
请您选择所在区域，我们将转接对应客服为您服务！

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z

热 A B C F G H J L N Q S T X Y Z