2. Gene
  3. NAT8L - N-acetyltransferase 8 like Gene

NAT8L - N-acetyltransferase 8 like Gene

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

中文名称：N-乙酰转移酶 8 样

种属: Homo sapiens

同用名: CML3; NACED; NAT8-LIKE

基因 ID: 339983 | 基因类型: protein coding

关于 NAT8L

Cytogenetic location: 4p16.3 Genomic coordinates (GRCh38): 4:2,059,327-2,069,089 (from NCBI)

This gene has 1 transcript (splice variant), 194 orthologues, 3 paralogues and is associated with 1 phenotype. Biased expression in fat (RPKM 41.3), brain (RPKM 25.5) and 2 other tissues.

功能概要

该基因编码单程膜蛋白，其包含 N-乙酰转移酶 GCN5 或 NAT 超家族的保守序列，是 N-酰基转移酶 (NAT) 超家族的成员。该蛋白质是一种神经元特异性蛋白质，是 N-乙酰天冬氨酸 (NAA) 生物合成酶，催化 L-天冬氨酸和乙酰辅酶 A 合成 NAA。 NAA 是神经系统特有的乙酰辅酶 A 的主要储存和运输形式。基因突变导致原发性 NAA 缺乏症 (hypoacetylaspartia) 。[RefSeq 提供，2010 年 12 月]

This gene encodes a single-pass membrane protein, which contains a conserved sequence of the GCN5 or NAT superfamily of N-acetyltransferases and is a member of the N-acyltransferase (NAT) superfamily. This protein is a neuron-specific protein and is the N-acetylaspartate (NAA) biosynthetic Enzyme, catalyzing the NAA synthesis from L-aspartate and acetyl-CoA. NAA is a major storage and transport form of acetyl coenzyme A specific to the nervous system. The gene mutation results in primary NAA deficiency (hypoacetylaspartia). [provided by RefSeq, Dec 2010]

NAT8L 基因产物(1)

mRNA Protein Name
NM_178557.4 NP_848652.2 N-acetylaspartate synthetase
基因本体论
  • 分子功能
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables aspartate N-acetyltransferase activity IDA
IDA: 通过直接分析推断
19524112 GOA
enables aspartate N-acetyltransferase activity IMP
IMP: 通过突变表型推断
19807691 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
28514442 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
19524112 GOA
located in mitochondrial membrane IDA
IDA: 通过直接分析推断
19524112 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

NAT8L 蛋白结构

Acetyltransf_1

Acetyltransf_1: Acetyltransferase (GNAT) family (189 - 265)

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

N-acetylaspartate synthetase

N-acetyltransferase 8-like (GCN5-related, putative)

NAT8L 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 NAT8L Q8N9F0 PEX19 Homo sapiens P40855
Y2H Prey Pooling
32296183
Intra NAT8L Q8N9F0 PEX19 Homo sapiens P40855
Y2H Array
32296183
Intra NAT8L Q8N9F0 KIAA0232 Homo sapiens Q92628
Anti Tag CoIP
28514442
Intra NAT8L Q8N9F0 KIAA0232 Homo sapiens Q92628
Anti Tag CoIP
33961781
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
N-Acetylaspartate Deficiency

NACED

Naa Deficiency

Hypoacetylaspartia

Deficiency, N-Acetylaspartate
Canavan Disease

Aspartoacylase Deficiency

Aminoacylase 2 Deficiency

Spongy Degeneration Of Central Nervous System

Aspa Deficiency

Acy2 Deficiency

Canavan-Van Bogaert-Bertrand Disease

Mild Canavan Disease

Asp Deficiency

Spongy Degeneration Of The Central Nervous System

Severe Canavan Disease

Von Bogaert-Bertrand Disease

Canavan'S Disease

Spongy Degeneration Of The Brain

Juvenile Canavan Disease

Infantile Canavan Disease

Neonatal Canavan Disease

CAND

Disease, Canavan

Canavan Disease, Juvenile

Canavan Disease, Infantile

Canavan Disease, Neonatal
Developmental And Epileptic Encephalopathy 39

Hypomyelination, Global Cerebral

Agc1 Deficiency

Epileptic Encephalopathy, Early Infantile, 39

DEE39

Eiee39

Aspartate-Glutamate Carrier 1 Deficiency

Epileptic Encephalopathy With Global Cerebral Demyelination

Developmental And Epileptic Encephalopathy, 39

Early Infantile Epileptic Encephalopathy 39

Mitochondrial Aspartate-Glutamate Carrier 1 Deficiency

Global Cerebral Hypomyelination

Hereditary Central Nervous System Demyelinating Diseases
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS09044 NAT8L 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 NAT8L VGNC VGNC:107352
Mus musculus NAT8L MGD MGI:2447776
Canis familiaris NAT8L VGNC VGNC:43628
Rattus norvegicus NAT8L RGD RGD:1305719
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