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  2. NAA10 - N-alpha-acetyltransferase 10, NatA catalytic subunit Gene

NAA10 - N-alpha-acetyltransferase 10, NatA catalytic subunit Gene

中文名称:N-α-乙酰转移酶 10,NatA 催化亚基

种属: Homo sapiens

同用名: TE2; ARD1; NATD; ARD1A; ARD1P; OGDNS; hARD1; DXS707; MCOPS1

基因 ID: 8260 | 基因类型: protein coding

关于 NAA10

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:153,929,225-153,935,037 (from NCBI)

This gene has 16 transcripts (splice variants), 202 orthologues, 4 paralogues and is associated with 8 phenotypes. Ubiquitous expression in fat (RPKM 16.8), appendix (RPKM 16.4) and 25 other tissues.

功能概要

N-α-乙酰化是真核细胞中最常见的翻译后蛋白质修饰之一。该过程涉及将乙酰基从乙酰辅酶 A 转移到新生多肽上的 α-氨基,对于正常细胞功能至关重要。该基因编码一个 N 末端乙酰转移酶,该酶充当主要氨基末端乙酰转移酶 A 复合物的催化亚基。该基因的突变是奥格登综合征的原因。交替剪接导致多个转录本变体。[RefSeq 提供,2012 年 1 月]

N-alpha-acetylation is among the most common post-translational protein modifications in eukaryotic cells. This process involves the transfer of an acetyl group from acetyl-coenzyme A to the alpha-amino group on a nascent polypeptide and is essential for normal cell function. This gene encodes an N-terminal acetyltransferase that functions as the catalytic subunit of the major amino-terminal acetyltransferase A complex. Mutations in this gene are the cause of Ogden syndrome. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]

NAA10 基因产物(3)

mRNA Protein Name
NM_001256119.2 NP_001243048.1 N-alpha-acetyltransferase 10 isoform 2
NM_001256120.2 NP_001243049.1 N-alpha-acetyltransferase 10 isoform 3
NM_003491.4 NP_003482.1 N-alpha-acetyltransferase 10 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
contributes to acetyltransferase activity IDA
IDA: 通过直接分析推断
15496142 GOA
contributes to peptide alpha-N-acetyltransferase activity IDA
IDA: 通过直接分析推断
19480662 GOA
enables peptide alpha-N-acetyltransferase activity IDA
IDA: 通过直接分析推断
25489052 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
15496142 GOA
contributes to ribosome binding IDA
IDA: 通过直接分析推断
15496142 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
15496142 GOA
involved in negative regulation of maintenance of mitotic sister chromatid cohesion, centromeric IDA
IDA: 通过直接分析推断
27422821 GOA
involved in protein acetylation IDA
IDA: 通过直接分析推断
27708256 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
19480662 GOA
part of NatA complex IPI
IPI: 通过物理相互作用推断
15496142 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
15496142 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15496142 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

NAA10 蛋白结构

Acetyltransf_1

Acetyltransf_1: Acetyltransferase (GNAT) family (48 - 123)

  • 0
  • 100
  • 200
  • 235 a.a.
蛋白主名 其他名称

N-alpha-acetyltransferase 10

ARD1 homolog A, N-acetyltransferase

重组 NAA10 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77096 NAA10/ARD1 Protein, Human (sf9) P41227 (M1-S235) ≥95%
HY-P77097 NAA10/ARD1 Protein, Human (sf9, His-GST) P41227 (M1-S235) ≥95%

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

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

Cardiogenic Shock

Shock Cardiogenic

Shock, Cardiogenic

Microphthalmia

Microphthalmos

Isolated Anophthalmia-Microphthalmia Syndrome

Isolated Microphthalmia-Anophthalmia-Coloboma

Simple Microphthalmos

Clinical Anophthalmia

Isolated Anophthalmia - Microphthalmia

Isolated Pure Microphthalmia

Mac Spectrum

Microphthalmia-Anophthalmia-Coloboma Spectrum

Primitive Anophthalmia

Globe Of Eye Small

Small Eyeball

Hypoplasia Of Eye

Isolated Nanophthalmos

Rudimentary Eye

Dysplasia Of Eye

Microphthalmia, Syndromic 13

X-Linked Colobomatous Microphthalmia-Microcephaly-Intellectual Disability-Short Stature Syndrome

MCOPS13

Maine Microphthalmos

Colobomatous Microphthalmia With Microcephaly, Short Stature, And Psychomotor Retardation

Syndromic Microphthalmia 13

X-Linked Colobomatous Microphthalmia-Microcephaly-Short Stature-Psychomotor Retardation Syndrome

Microphthalmia, Syndromic, 13

Microphthalmia, Syndromic, Type 13

Syndromic Microphthalmia

Microphthalmia, Syndromic

Epilepsy, Familial Temporal Lobe, 6

ETL6

Familial Temporal Lobe Epilepsy 6

Microcephaly And Chorioretinopathy 2
Developmental Coordination Disorder

Motor Skills Disorders

Autosomal Dominant Severe Congenital Neutropenia

Severe Congenital Neutropenia Autosomal Dominant

Neutropenia, Congenital, Severe, Autosomal Dominant

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

直系同源

种属 基因名 来源 基因 ID
Bos taurus NAA10 VGNC VGNC:106831
Felis catus NAA10 VGNC VGNC:96704
Canis familiaris NAA10 VGNC VGNC:54174
Mus musculus NAA10 MGD MGI:1915255
Macaca mulatta NAA10 VGNC VGNC:107112
Rattus norvegicus NAA10 RGD RGD:1565315
Others NAA10 NCBI