1. Gene
  2. NKAP - NFKB activating protein Gene

NKAP - NFKB activating protein Gene

中文名称:NFκB 活化蛋白

种属: Homo sapiens

同用名: MRXSHD

基因 ID: 79576 | 基因类型: protein coding

关于 NKAP

Cytogenetic location: Xq24 Genomic coordinates (GRCh38): X:119,920,672-119,943,751 (from NCBI)

This gene has 5 transcripts (splice variants), 122 orthologues, 1 paralogue and is associated with 2 phenotypes. Ubiquitous expression in placenta (RPKM 6.5), ovary (RPKM 6.4) and 25 other tissues.

功能概要

该基因编码一种参与普遍存在的转录因子 NF-kappaB 激活的蛋白质。该蛋白与组蛋白脱乙酰酶 HDAC3Notch 辅阻遏物复合物相关,因此它充当 Notch 靶基因的转录阻遏物。它也是 alphabeta T 细胞发育所必需的。已在 X 染色体上鉴定出相关的假基因,而具有完整 CDS 且可能具有功能的相关且无内含子的逆转录位于 6 号染色体上。[RefSeq 提供,2010 年 5 月]

This gene encodes a protein that is involved in the activation of the ubiquitous transcription factor NF-kappaB. This protein is associated with the the histone deacetylase HDAC3 and with the Notch corepressor complex, and it thereby acts as a transcriptional repressor of Notch target genes. It is also required for alphabeta T cell development. A related pseudogene has been identified on chromosome X, while a related and intronless retrocopy, which has an intact CDS and may be functional, is located on chromosome 6. [provided by RefSeq, May 2010]

NKAP 基因产物(1)

mRNA Protein Name
NM_024528.4 NP_078804.2 NF-kappa-B-activating protein
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables chromatin binding IDA
IDA: 通过直接分析推断
19409814 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
19409814 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in negative regulation of DNA-templated transcription IDA
IDA: 通过直接分析推断
19409814 GOA
involved in negative regulation of transcription by RNA polymerase II IMP
IMP: 通过突变表型推断
31587868 GOA
involved in positive regulation of alpha-beta T cell differentiation IMP
IMP: 通过突变表型推断
19409814 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

NKAP 蛋白结构

SynMuv_product

SynMuv_product: Ras-induced vulval development antagonist (305 - 408)

  • 0
  • 100
  • 200
  • 300
  • 415 a.a.
蛋白主名 其他名称

NF-kappa-B-activating protein

NF-kappaB activating protein

NKAP 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
NKAP Q8N5F7 DDX41 Homo sapiens Q9UJV9
Anti Tag CoIP
33961781
种属内
NKAP Q8N5F7 DDX41 Homo sapiens Q9UJV9
Anti Tag CoIP
28514442
种属内
NKAP Q8N5F7 DHX8 Homo sapiens Q14562
Anti Tag CoIP
33961781
种属内
NKAP Q8N5F7 DHX8 Homo sapiens Q14562
Anti Tag CoIP
22365833
种属内
NKAP Q8N5F7 DHX8 Homo sapiens Q14562
Y2H
22365833
种属内
NKAP Q8N5F7 AP1M1 Homo sapiens Q9BXS5
Validated Y2H
32296183
种属内
NKAP Q8N5F7 U2AF1 Homo sapiens Q01081
Y2H
22365833
种属内
NKAP Q8N5F7 PRPF3 Homo sapiens O43395
Y2H
22365833
种属内
NKAP Q8N5F7 NOS1AP Homo sapiens O75052
Anti Tag CoIP
33961781
种属内
NKAP Q8N5F7 NOS1AP Homo sapiens O75052
Anti Tag CoIP
28514442
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
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type

MRXSHD

Intellectual Developmental Disorder, X-Linked, Syndromic, Hackman-Di Donato Type

Mental Retardation, X-Linked, With Marfanoid Habitus, 2

Intellectual Developmental Disorder, X-Linked Syndromic, Hackman-Di Donato Type

Scoliosis
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 NKAP VGNC VGNC:43826
Mus musculus NKAP MGD MGI:1914300
Rattus norvegicus NKAP RGD RGD:1565955
Macaca mulatta NKAP VGNC VGNC:75280
Bos taurus NKAP VGNC VGNC:32092
Felis catus NKAP VGNC VGNC:63812