1. Gene
  2. ELP3 - elongator acetyltransferase complex subunit 3 Gene

ELP3 - elongator acetyltransferase complex subunit 3 Gene

中文名称:延伸乙酰转移酶复合亚基 3

种属: Homo sapiens

同用名: KAT9

基因 ID: 55140 | 基因类型: protein coding

关于 ELP3

Cytogenetic location: 8p21.1 Genomic coordinates (GRCh38): 8:28,090,232-28,191,153 (from NCBI)

This gene has 20 transcripts (splice variants) and 202 orthologues. Ubiquitous expression in brain (RPKM 10.1), endometrium (RPKM 9.6) and 25 other tissues.

功能概要

ELP3 是组蛋白乙酰转移酶延伸复合物的催化亚基,有助于转录物延伸并调节投射神经元的成熟 (Creppe 等人,2009 [PubMed 19185337]) 。[OMIM 提供,2009 年 4 月]

ELP3 is the catalytic subunit of the Histone Acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]

ELP3 基因产物(6)

mRNA Protein Name
NM_001284220.2 NP_001271149.1 elongator complex protein 3 isoform 2
NM_001284222.2 NP_001271151.1 elongator complex protein 3 isoform 3
NM_001284224.2 NP_001271153.1 elongator complex protein 3 isoform 4
NM_001284225.2 NP_001271154.1 elongator complex protein 3 isoform 4
NM_001284226.2 NP_001271155.1 elongator complex protein 3 isoform 5
NM_018091.6 NP_060561.3 elongator complex protein 3 isoform 1
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 acetyltransferase activity IDA
IDA: 通过直接分析推断
11714725 GOA
enables phosphorylase kinase regulator activity IDA
IDA: 通过直接分析推断
11818576 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11714725 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
11818576 GOA
involved in tRNA wobble uridine modification IDA
IDA: 通过直接分析推断
29415125 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
11714725 GOA
part of elongator holoenzyme complex IDA
IDA: 通过直接分析推断
22854966 GOA
part of elongator holoenzyme complex IPI
IPI: 通过物理相互作用推断
22854966 GOA
located in nucleolus IDA
IDA: 通过直接分析推断
11714725 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

ELP3 蛋白结构

Radical_SAM

Radical_SAM: Radical SAM superfamily (107 - 293)

Acetyltransf_1

Acetyltransf_1: Acetyltransferase (GNAT) family (442 - 536)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 547 a.a.
蛋白主名 其他名称

elongator complex protein 3

elongation protein 3 homolog

ELP3 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
ELP3 Q9H9T3 ELP1 Homo sapiens O95163 33961781
种属内
ELP3 Q9H9T3 ELP1 Homo sapiens O95163 22854966
种属内
ELP3 Q9H9T3 ELP1 Homo sapiens O95163 11714725
种属内
ELP3 Q9H9T3 ELP1 Homo sapiens O95163 19185337
种属间: 跨种属相互作用 种属内: 同种属相互作用

ELP3 抗体

目录号 产品名 应用 反应物种
HY-P83637 KAT9 Antibody (YA3382) WB, ICC/IF, IP Human, Mouse, Rat

关联疾病

疾病名称 别名
Dysautonomia
Neuropathy, Hereditary Sensory And Autonomic, Type Iii

Familial Dysautonomia

Riley-Day Syndrome

Dysautonomia, Familial

HSAN3

Hsan Iii

Fd

Hereditary Sensory And Autonomic Neuropathy Type Iii

Dys

Hereditary Sensory And Autonomic Neuropathy 3

Riley Day Syndrome

Familial Autonomic Nervous Dysfunction

Hereditary Sensory Autonomic Neuropathy Type Iii

Hsan 3

Hsn 3

Hereditary Sensory Neuropathy Type 3

Hsan Type Iii

Hsn-Iii

Hereditary Sensory And Autonomic Neuropathy Type 3

Neuropathy, Hereditary Sensory And Autonomic, 3

Hsn Iii

Dysautonomia Familial

Neuropathy, Sensory And Autonomic, Hereditary, Type Iii

Hsan3 - [Hereditary Sensory And Autonomic Neuropathy Type 3]

Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Familial Dysautonomia, Type Ii

Hsan

Sensory Neuropathy Hereditary

Neuropathy, Sensory And Autonomic, Hereditary

Neuropathy, Sensory, Hereditary

Sensory Neuropathy, Hereditary

Charcot-Marie-Tooth Disease

Cmt - [Charcot-Marie-Tooth Disease]

Hemochromatosis, Type 1

Hemochromatosis

Hemochromatosis Type 1

Hereditary Hemochromatosis

Hh

HFE1

Hfe Hemochromatosis, Modifier Of

Symptomatic Form Of Classic Hemochromatosis

Symptomatic Form Of Hemochromatosis Type 1

Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis

Haemochromatosis

Iron Storage Disorder

Bronze Diabetes

Hereditary Haemochromatosis

Hlah

Hfe

Hemochromatosis, Hereditary

Diabetes Bronze

Classic Hemochromatosis

Hfe-Associated Hereditary Hemochromatosis

Hemochromatosis Classic

Bronzed Cirrhosis

Familial Hemochromatosis

Genetic Hemochromatosis

Hc

Pigmentary Cirrhosis

Primary Hemochromatosis

Troisier-Hanot-Chauffard Syndrome

Von Recklenhausen-Applebaum Disease

Hemochromatosis 1

Primary Hereditary Hemochromatosis

Bronze Cirrhosis

Benign Epilepsy With Centrotemporal Spikes

Rolandic Epilepsy

Benign Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

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 ELP3 VGNC VGNC:40328
Macaca mulatta ELP3 VGNC VGNC:72080
Bos taurus ELP3 VGNC VGNC:28456
Mus musculus ELP3 MGD MGI:1921445
Rattus norvegicus ELP3 RGD RGD:2324506
Felis catus ELP3 VGNC VGNC:61827