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  2. N4BP2 - NEDD4 binding protein 2 Gene

N4BP2 - NEDD4 binding protein 2 Gene

中文名称:NEDD4 结合蛋白 2

种属: Homo sapiens

同用名: B3BP

基因 ID: 55728 | 基因类型: protein coding

关于 N4BP2

Cytogenetic location: 4p14 Genomic coordinates (GRCh38): 4:40,056,850-40,190,470 (from NCBI)

This gene has 4 transcripts (splice variants), 135 orthologues, 2 paralogues and is associated with 73 phenotypes. Ubiquitous expression in thyroid (RPKM 3.3), lymph node (RPKM 2.4) and 25 other tissues.

功能概要

该基因编码的蛋白质在 N 末端区域附近包含一个多核苷酸激酶结构域 (PNK) ,在 C 末端区域附近包含一个小 MutS 相关 (Smr) 结构域。编码的蛋白质可以结合 B 细胞白血病/淋巴瘤 3 (BCL-3) 和神经前体细胞表达的、发育下调的 4 (Nedd4) 蛋白质。这种蛋白质结合并水解 ATP,可作为 5'-多核苷酸激酶发挥作用,并具有成为泛素化底物的能力。这种蛋白质可能在转录偶联的 DNA 修复或基因重组中发挥作用。可变剪接导致编码不同异构体的多个转录变体。[RefSeq 提供,2016 年 1 月]

This gene encodes a protein containing a polynucleotide kinase domain (PNK) near the N-terminal region, and a Small MutS Related (Smr) domain near the C-terminal region. The encoded protein can bind to both B-cell leukemia/lymphoma 3 (BCL-3) and neural precursor cell expressed, developmentally downregulated 4, (Nedd4) proteins. This protein binds and hydrolyzes ATP, may function as a 5'-polynucleotide kinase, and has the capacity to be a ubiquitylation substrate. This protein may play a role in transcription-coupled DNA repair or genetic recombination. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

N4BP2 基因产物(2)

mRNA Protein Name
NM_001318359.2 NP_001305288.1 NEDD4-binding protein 2 isoform 2
NM_018177.6 NP_060647.2 NEDD4-binding protein 2 isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables ATP binding IDA
IDA: 通过直接分析推断
12730195 GOA
enables ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity IDA
IDA: 通过直接分析推断
12730195 GOA
enables DNA endonuclease activity IDA
IDA: 通过直接分析推断
12730195 GOA
enables endonuclease activity IDA
IDA: 通过直接分析推断
12730195 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12730195 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

N4BP2 蛋白结构

AAA_33

AAA_33: AAA domain (442 - 575)

DUF1771

DUF1771: Domain of unknown function (DUF1771) (1618 - 1683)

Smr

Smr: Smr domain (1691 - 1770)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1770 a.a.
蛋白主名 其他名称

NEDD4-binding protein 2

BCL-3-binding protein

关联疾病

疾病名称 别名
Orofacial Cleft 5

OFC5

Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 5

Nonsyndromic Cleft Lip With Or Without Cleft Palate 5

Non-Syndromic Orofacial Cleft 5

Non-Syndromic Cleft Lip/Palate 5

Non-Syndromic Cleft Lip With Or Without Cleft Palate 5

Orofacial Cleft, Type 5

Orofacial Cleft 10

OFC10

Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 10

Nonsyndromic Cleft Lip With Or Without Cleft Palate 10

Non-Syndromic Orofacial Cleft 10

Non-Syndromic Cleft Lip/Palate 10

Non-Syndromic Cleft Lip With Or Without Cleft Palate 10

Orofacial Cleft, Type 10

Orofacial Cleft 11

OFC11

Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 11

Nonsyndromic Cleft Lip With Or Without Cleft Palate 11

Non-Syndromic Orofacial Cleft 11

Chcl

Cleft Lip Congenital Healed

Congenital Healed Cleft Lip

Non-Syndromic Cleft Lip/Palate 11

Non-Syndromic Cleft Lip With Or Without Cleft Palate 11

Orofacial Cleft, Type 11

Cleft Lip, Congenital Healed

Orofacial Cleft 15

OFC15

Non-Syndromic Orofacial Cleft 15

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 N4BP2 VGNC VGNC:53766
Mus musculus N4BP2 MGD MGI:2684414
Canis familiaris N4BP2 VGNC VGNC:43597
Felis catus N4BP2 VGNC VGNC:63702
Macaca mulatta N4BP2 VGNC VGNC:75052
Rattus norvegicus N4BP2 RGD RGD:1565738