1. Gene
  2. NSD3 - nuclear receptor binding SET domain protein 3 Gene

NSD3 - nuclear receptor binding SET domain protein 3 Gene

中文名称:核受体结合 SET 结构域蛋白 3

种属: Homo sapiens

同用名: KMT3F; KMT3G; WHISTLE; WHSC1L1; pp14328

基因 ID: 54904 | 基因类型: protein coding

关于 NSD3

Cytogenetic location: 8p11.23 Genomic coordinates (GRCh38): 8:38,269,704-38,382,271 (from NCBI)

This gene has 12 transcripts (splice variants), 236 orthologues, 19 paralogues and is associated with 80 phenotypes. Ubiquitous expression in ovary (RPKM 10.0), brain (RPKM 9.8) and 25 other tissues.

功能概要

该基因与 Wolf-Hirschhorn 综合征 candidate-1 基因相关,编码具有 PWWP (脯氨酸-色氨酸-色氨酸-脯氨酸) 结构域的蛋白质。这种蛋白质在赖氨酸残基 4 和 27 处甲基化组蛋白 H3,从而抑制基因转录。已经描述了两种选择性剪接变体。[RefSeq 提供,2015 年 5 月]

This gene is related to the Wolf-Hirschhorn syndrome candidate-1 gene and encodes a protein with PWWP (proline-tryptophan-tryptophan-proline) domains. This protein methylates histone H3 at lysine residues 4 and 27, which represses gene transcription. Two alternatively spliced variants have been described. [provided by RefSeq, May 2015]

NSD3 基因产物(2)

mRNA Protein Name
NM_017778.3 NP_060248.2 histone-lysine N-methyltransferase NSD3 isoform short
NM_023034.2 NP_075447.1 histone-lysine N-methyltransferase NSD3 isoform long
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 histone H3K27 dimethyltransferase activity IDA
IDA: 通过直接分析推断
16682010 GOA
enables histone H3K27 trimethyltransferase activity IDA
IDA: 通过直接分析推断
16682010 GOA
enables histone H3K36 methyltransferase activity IMP
IMP: 通过突变表型推断
21555454 GOA
enables histone H3K4 dimethyltransferase activity IDA
IDA: 通过直接分析推断
16682010 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
21516116 GOA
enables transcription regulator activator activity IMP
IMP: 通过突变表型推断
21555454 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 IMP
IMP: 通过突变表型推断
21555454 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in nucleus IMP
IMP: 通过突变表型推断
21555454 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

NSD3 蛋白结构

PWWP

PWWP: PWWP domain (268 - 377)

PWWP

PWWP: PWWP domain (960 - 1046)

SET

SET: SET domain (1156 - 1262)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1437 a.a.
蛋白主名 其他名称

histone-lysine N-methyltransferase NSD3

Wolf-Hirschhorn syndrome candidate 1-like 1

NSD3 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 NSD3 Q9BZ95 HEL25 Homo sapiens V9HWG0
Y2H Prey Pooling
25416956
Intra NSD3 Q9BZ95 HEL25 Homo sapiens V9HWG0
Y2H Array
25416956
Intra NSD3 Q9BZ95 RAD51 Homo sapiens Q06609
IF
25640309
Intra NSD3 Q9BZ95 RAD51 Homo sapiens Q06609
Anti Tag CoIP
25640309
Intra NSD3 Q9BZ95 HOXC4 Homo sapiens P09017
Anti Tag CoIP
23455924
Intra NSD3 Q9BZ95 HOXC4 Homo sapiens P09017
Y2H
23455924
Intra NSD3 Q9BZ95 ATM Homo sapiens Q13315
Anti Bait CoIP
25640309
Intra NSD3 Q9BZ95 MLLT6 Homo sapiens Q6P2C6
Validated Y2H
25416956
Intra NSD3 Q9BZ95 DAXX Homo sapiens Q9UER7
Y2H
23455924
Intra NSD3 Q9BZ95 DAXX Homo sapiens Q9UER7
Anti Tag CoIP
23455924
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
Wolf-Hirschhorn Syndrome

Pitt-Rogers-Danks Syndrome

WHS

Chromosome 4p16.3 Deletion Syndrome

Wittwer Syndrome

4p- Syndrome

Pitt Syndrome

4p Deletion Syndrome

Distal Deletion 4p

Distal Monosomy 4p

Telomeric Deletion 4p

Prds

4p Syndrome

Chromosome 4p Syndrome

Microcephaly, Iugr, Hypertelorism, Ptosis, Iris Coloboma, Hooked Nose, External Ear Dysplasia, Psychomotor Retardation

Wolf Syndrome

Chromosome 4p Deletion Syndrome

Chromosome 4p Monosomy

Del Syndrome

Monosomy 4p

Partial Monosomy 4p

Chromosome 4 Short Arm Deletion

Childhood Acute Myeloid Leukemia

Childhood Acute Myeloid Leukaemia

Paediatric Acute Myeloid Leukaemia

Pediatric Acute Myeloid Leukemia

Nut Midline Carcinoma

Nuclear Protein In Testis Midline Carcinoma

Nmc

Non-Syndromic X-Linked Intellectual Disability 63

Acsl4-Related Intellectual Disability

Mrx63

Mrx68

X-Linked Mental Retardation 68

Sotos Syndrome

Cerebral Gigantism

SOTOS

Chromosome 5q35 Deletion Syndrome

Sotos Syndrome 1, Formerly

Sotos1, Formerly

Distinctive Facial Appearance, Overgrowth In Childhood, And Learning Disabilities Or Delayed Development

Sotos Sequence

Sotos' Syndrome

Sotos1

Sotos Syndrome 1

Kleefstra Syndrome 1

9q Subtelomeric Deletion Syndrome

KLEFS1

Chromosome 9q34.3 Deletion Syndrome

9q- Syndrome

9q34 Deletion Syndrome

Kleefstra Syndrome Due To 9q34 Microdeletion

Kleefstra Syndrome

9q-Syndrome

9qstds

Kleefstra Syndrome Due To 9q Subtelomeric Deletion

Kleefstra Syndrome Due To Del(9)(Q34)

Kleefstra Syndrome Due To Monosomy 9q34

Chromosome 9q Subtelomeric Deletion Syndrome

Kleefstra Syndrome, Type 1

Weaver Syndrome

Wss

Weaver-Smith Syndrome

WVS

Weaver-Like Syndrome

Weaver-Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies Syndrome

Camptodactyly - Overgrowth - Unusual Facies

Ezh2 Related Overgrowth

Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

Weaver Smith Syndrome

Weaver Like Syndrome

Weaver Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies

Weaver Syndrome 1

Weaver Syndrome 2

Wvs1

Wvs2

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
Canis familiaris NSD3 VGNC VGNC:43982
Bos taurus NSD3 VGNC VGNC:32273
Macaca mulatta NSD3 VGNC VGNC:75398
Rattus norvegicus NSD3 RGD RGD:1308980
Felis catus NSD3 VGNC VGNC:63886
Mus musculus NSD3 MGD MGI:2142581
Others NSD3 NCBI