1. Gene
  2. NDUFB1 - NADH:ubiquinone oxidoreductase subunit B1 Gene

NDUFB1 - NADH:ubiquinone oxidoreductase subunit B1 Gene

中文名称:NADH:泛醌氧化还原酶亚基 B1

种属: Homo sapiens

同用名: MNLL; CI-MNLL; CI-SGDH

基因 ID: 4707 | 基因类型: protein coding

关于 NDUFB1

Cytogenetic location: 14q32.12 Genomic coordinates (GRCh38): 14:92,116,123-92,121,706 (from NCBI)

This gene has 7 transcripts (splice variants) and 198 orthologues. Ubiquitous expression in kidney (RPKM 82.0), colon (RPKM 69.9) and 25 other tissues.

功能概要

参与线粒体呼吸链复合物 I 的组装。位于线粒体和核斑点。线粒体呼吸链复合体 I 的一部分。[由基因组资源联盟提供,2022 年 4 月]

Involved in mitochondrial respiratory chain complex I assembly. Located in mitochondrion and nuclear speck. Part of mitochondrial respiratory chain complex I. [provided by Alliance of Genome Resources, Apr 2022]

NDUFB1 基因产物(1)

mRNA Protein Name
NM_004545.4 NP_004536.3 NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1
基因本体论
  • 生物过程
  • 细胞组分
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial respiratory chain complex I assembly IMP
IMP: 通过突变表型推断
27626371 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
28844695 GOA
part of respiratory chain complex I IDA
IDA: 通过直接分析推断
12611891 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

NDUFB1 蛋白结构

NADH_oxidored

NADH_oxidored: MNLL subunit (1 - 58)

  • 0
  • 58 a.a.
蛋白主名 其他名称

NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 1

NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa

NDUFB1 抗体

目录号 产品名 应用 反应物种
HY-P82759 NDUFB1 Antibody (YA2504) WB, IHC-P Human

关联疾病

疾病名称 别名
Bacterial Gastritis
Mitochondrial Dna Depletion Syndrome 9

MTDPS9

Fatal Infantile Lactic Acidosis

Lactic Acidosis, Fatal Infantile, Formerly

Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome 9 Encephalomyopathic Type With Methylmalonic Aciduria

Mitochondrial Dna Depletion Syndrome, Type 9

Lactic Acidosis, Fatal Infantile

Leber Optic Atrophy And Dystonia

LDYT

Marsden Syndrome

Leber Hereditary Optic Neuropathy With Dystonia

Leber Hereditary Optic Neuropathy And Dystonia

Familial Dystonia With Visual Failure And Striatal Lucencies

Dystonia, Familial, With Visual Failure And Striatal Lucencies

Leber Optic Atrophy With Dystonia

Dystonia Familial, With Visual Failure And Striatal Lucencies

Lhon And Dystonia

Leber'S Hereditary Optic Neuropathy With Dystonia

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 NDUFB1 RGD RGD:6487218
Macaca mulatta NDUFB1 VGNC VGNC:106440
Mus musculus NDUFB1 MGD MGI:3780865