1. Gene
  2. NACA - nascent polypeptide associated complex subunit alpha Gene

NACA - nascent polypeptide associated complex subunit alpha Gene

中文名称:新生多肽相关复合亚基α

种属: Homo sapiens

同用名: HSD48; NACA1; skNAC; NAC-alpha

基因 ID: 4666 | 基因类型: protein coding

关于 NACA

Cytogenetic location: 12q13.3 Genomic coordinates (GRCh38): 12:56,712,427-56,725,299 (from NCBI)

This gene has 26 transcripts (splice variants), 202 orthologues, 2 paralogues and is associated with 75 phenotypes. Ubiquitous expression in ovary (RPKM 104.2), bone marrow (RPKM 62.0) and 25 other tissues.

功能概要

该基因编码一种与基本转录因子 3 (BTF3) 结合形成新生多肽相关复合体 (NAC) 的蛋白质。当它们从核糖体中出现时,这种复合物会与缺乏信号肽基序的新生蛋白质结合,从而阻断与信号识别颗粒 (SRP) 的相互作用,并防止错误转移至内质网。这种蛋白质是特应性皮炎患者的 IgE 自身抗原。可变剪接导致多个转录变体,但其中一些变体的全长性质,包括那些编码非常大的蛋白质的变体,尚未确定。该基因在不同染色体上有多个假基因。[RefSeq 提供,2016 年 2 月]

This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]

NACA 基因产物(7)

mRNA Protein Name
NM_001113201.3 NP_001106672.1 nascent polypeptide-associated complex subunit alpha isoform b
NM_001113202.2 NP_001106673.1 nascent polypeptide-associated complex subunit alpha isoform b
NM_001113203.3 NP_001106674.2 nascent polypeptide-associated complex subunit alpha isoform a
NM_001320193.2 NP_001307122.1 nascent polypeptide-associated complex subunit alpha isoform b
NM_001320194.2 NP_001307123.1 nascent polypeptide-associated complex subunit alpha isoform c
NM_001365896.1 NP_001352825.1 nascent polypeptide-associated complex subunit alpha isoform d
NM_005594.6 NP_005585.1 nascent polypeptide-associated complex subunit alpha isoform b
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 protein binding IPI
IPI: 通过物理相互作用推断
21903422 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of protein localization to endoplasmic reticulum IDA
IDA: 通过直接分析推断
10982809 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
10982809 GOA
part of nascent polypeptide-associated complex IPI
IPI: 通过物理相互作用推断
20214399 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

NACA 蛋白结构

NAC

NAC: NAC domain (73 - 130)

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

nascent polypeptide-associated complex subunit alpha

alpha-NAC, muscle-specific form

NACA 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
NACA Q13765 TXLNA Homo sapiens P40222 21903422
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
Skeletal Muscle Neoplasm

Tumor Of Skeletal Muscle

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

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
Rattus norvegicus NACA RGD RGD:1308642
Mus musculus NACA MGD MGI:106095