1. Gene
  2. NAA50 - N-alpha-acetyltransferase 50, NatE catalytic subunit Gene

NAA50 - N-alpha-acetyltransferase 50, NatE catalytic subunit Gene

中文名称:N-α-乙酰转移酶 50,NatE 催化亚基

种属: Homo sapiens

同用名: SAN; MAK3; NAT5; NAT13; NAT5P; NAT13P; hNaa50p

基因 ID: 80218 | 基因类型: protein coding

关于 NAA50

Cytogenetic location: 3q13.31 Genomic coordinates (GRCh38): 3:113,716,458-113,746,249 (from NCBI)

This gene has 10 transcripts (splice variants), 246 orthologues and 4 paralogues. Ubiquitous expression in esophagus (RPKM 21.2), fat (RPKM 20.2) and 25 other tissues.

功能概要

启用 H4 组蛋白乙酰转移酶活性;肽α-N-乙酰转移酶活性;和肽基赖氨酸乙酰转移酶活性。参与 N 端蛋白质氨基酸乙酰化;有丝分裂姐妹染色单体凝聚力的建立;与有丝分裂姐妹染色单体凝聚,着丝粒。位于细胞质和细胞核中。 NatA 复合体的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables H4 Histone Acetyltransferase activity; peptide alpha-N-acetyltransferase activity; and peptidyl-lysine acetyltransferase activity. Involved in N-terminal protein amino acid acetylation; establishment of mitotic sister chromatid cohesion; and mitotic sister chromatid cohesion, centromeric. Located in cytosol and nucleus. Part of NatA complex. [provided by Alliance of Genome Resources, Apr 2022]

NAA50 基因产物(2)

mRNA Protein Name
NM_001308445.2 NP_001295374.1 N-alpha-acetyltransferase 50 isoform 2
NM_025146.4 NP_079422.1 N-alpha-acetyltransferase 50 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 histone H4 acetyltransferase activity IDA
IDA: 通过直接分析推断
19744929 GOA
enables peptide alpha-N-acetyltransferase activity IDA
IDA: 通过直接分析推断
17502424 GOA
enables peptide alpha-N-acetyltransferase activity IMP
IMP: 通过突变表型推断
27422821 GOA
enables peptide-lysine-N-acetyltransferase activity IDA
IDA: 通过直接分析推断
19744929 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
16507339 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in N-terminal protein amino acid acetylation IDA
IDA: 通过直接分析推断
21900231 GOA
involved in N-terminal protein amino acid acetylation IMP
IMP: 通过突变表型推断
27422821 GOA
involved in establishment of mitotic sister chromatid cohesion IDA
IDA: 通过直接分析推断
27422821 GOA
involved in mitotic sister chromatid cohesion, centromeric IDA
IDA: 通过直接分析推断
17502424 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of NatA complex IDA
IDA: 通过直接分析推断
16507339 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
16507339 GOA
located in cytosol IDA
IDA: 通过直接分析推断
27422821 GOA
located in nucleus IDA
IDA: 通过直接分析推断
25732826 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

NAA50 蛋白结构

Acetyltransf_1

Acetyltransf_1: Acetyltransferase (GNAT) family (50 - 130)

  • 0
  • 100
  • 169 a.a.
蛋白主名 其他名称

N-alpha-acetyltransferase 50

N-acetyltransferase 13 (GCN5-related)

NAA50 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
NAA50 Q9GZZ1 NAA15 Homo sapiens Q9BXJ9 33961781
种属内
NAA50 Q9GZZ1 NAA15 Homo sapiens Q9BXJ9 16507339
种属内
NAA50 Q9GZZ1 NAA15 Homo sapiens Q9BXJ9 16507339
种属内
NAA50 Q9GZZ1 NAA16 Homo sapiens Q6N069 33961781
种属内
NAA50 Q9GZZ1 BHLHE40 Homo sapiens O14503 32296183
种属内
NAA50 Q9GZZ1 BHLHE40 Homo sapiens O14503 25416956
种属内
NAA50 Q9GZZ1 BHLHE40 Homo sapiens O14503 32296183
种属内
NAA50 Q9GZZ1 NAA10 Homo sapiens P41227 16507339
种属内
NAA50 Q9GZZ1 NAA10 Homo sapiens P41227 33961781
种属内
NAA50 Q9GZZ1 JMJD6 Homo sapiens Q6NYC1 25416956
种属内
NAA50 Q9GZZ1 JMJD6 Homo sapiens Q6NYC1 32296183
种属内
NAA50 Q9GZZ1 JMJD6 Homo sapiens Q6NYC1 32296183
种属内
NAA50 Q9GZZ1 OTX2 Homo sapiens P32243-2 32296183
种属内
NAA50 Q9GZZ1 OTX2 Homo sapiens P32243-2 32296183
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
Ogden Syndrome

OGDNS

N-Terminal Acetyltransferase Deficiency

NATD

N-Alpha-Acetyltransferase

X-Linked Malformation And Infantile Lethality Syndrome

Premature Aging Appearance-Developmental Delay-Cardiac Arrhythmia Syndrome

Neurogenic Arthropathy

Neuropathic Arthropathy

Arthropathy Associated With Neurological Disorder

Charcot'S Arthropathy

Charcot'S Joint

Arthropathy, Neurogenic

Charcot Joint

Charcot Or Tabetic Arthropathy

Charcot Foot

Villonodular Synovitis

Pigmented Villonodular Synovitis

Ochronosis
Microphthalmia, Syndromic 1

MCOPS1

Lenz Microphthalmia Syndrome

Lenz Dysplasia

Mcops4

Syndromic Microphthalmia 1

Lenz Microphthalmia

Maa

Microphthalmia Or Anophthalmos With Associated Anomalies

Syndromic Microphthalmia Type 4

Microphthalmia, Syndromic 4

Microphthalmia, Syndromic 4, Formerly

Mcops4, Formerly

Anop1, Formerly

Maa, Formerly

Lenz Type Microphthalmia

Syndromic Microphthalmia 4

Microphthalmia Lenz Type

Microphthalmia Syndromic 1

Syndromic Microphthalmia Type 1

Microphthalmia Syndromic 4

Microphthalmia With Ankyloblepharon And Intellectual Disability

Microphthalmia, Lenz Type

Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome

Microphthalmia, Syndromic, 1

Anop1

Microphthalmia, Syndromic, Type 1

Syndromic Microphthalmia

Microphthalmia, Syndromic

Crouzon Syndrome With Acanthosis Nigricans

Crouzon Syndrome-Acanthosis Nigricans Syndrome

CAN

Crouzonodermoskeletal Syndrome

Crouzon-Dermoskeletal Syndrome

Crouzon, With Acanthosis Nigricans 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

直系同源

种属 基因名 来源 基因 ID
Felis catus NAA50 VGNC VGNC:96706
Macaca mulatta NAA50 VGNC VGNC:110351
Bos taurus NAA50 VGNC VGNC:53590
Rattus norvegicus NAA50 RGD RGD:1310944
Mus musculus NAA50 MGD MGI:1919367