2. Gene
  3. UQCC1 - ubiquinol-cytochrome c reductase complex assembly factor 1 Gene

UQCC1 - ubiquinol-cytochrome c reductase complex assembly factor 1 Gene

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

中文名称：泛醇-细胞色素 c 还原酶复合物组装因子 1

种属: Homo sapiens

同用名: BFZB; CBP3; UQCC; C20orf44

基因 ID: 55245 | 基因类型: protein coding

关于 UQCC1

Cytogenetic location: 20q11.22 Genomic coordinates (GRCh38): 20:35,302,578-35,411,973 (from NCBI)

This gene has 23 transcripts (splice variants) and 199 orthologues. Ubiquitous expression in heart (RPKM 16.7), adrenal (RPKM 11.6) and 25 other tissues.

功能概要

该基因编码的跨膜蛋白在结构上类似于小鼠碱性成纤维细胞生长因子抑制的 ZIC 结合蛋白。在小鼠中，这种蛋白质可能参与成纤维细胞生长因子调节的生长控制。在人类中，该基因的多态性与人类身高和骨关节炎的变异有关。交替剪接导致多个转录本变体。[RefSeq 提供，2010 年 5 月]

This gene encodes a transmembrane protein that is structurally similar to the mouse basic Fibroblast Growth Factor repressed ZIC-binding protein. In mouse this protein may be involved in Fibroblast Growth Factor regulated growth control. In humans, polymorphisms in this gene are associated with variation in human height and osteoarthritis. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]

UQCC1 基因产物(3)

mRNA Protein Name
NM_001184977.2 NP_001171906.1 ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform c
NM_018244.5 NP_060714.3 ubiquinol-cytochrome-c reductase complex assembly factor 1 isoform a
NM_199487.3 NP_955781.2 ubiquinol-cytochrome-c reductase complex assembly factor 1 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
24385928 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mitochondrial respiratory chain complex III assembly IDA
IDA: 通过直接分析推断
24385928 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
24385928 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

UQCC1 蛋白结构

Ubiq_cyt_C_chap

Ubiq_cyt_C_chap: Ubiquinol-cytochrome C chaperone (136 - 271)

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

ubiquinol-cytochrome-c reductase complex assembly factor 1

bFGF-repressed Zic-binding protein

UQCC1 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
UQCC1 Q9NVA1 ATN1 Homo sapiens Q86V38
Validated Y2H
32814053
种属内
UQCC1 Q9NVA1 ATN1 Homo sapiens Q86V38
Y2H Pooling
32814053
种属内
UQCC1 Q9NVA1 ATN1 Homo sapiens Q86V38
Y2H Array
32814053
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
Acromesomelic Dysplasia 2c

Acromesomelic Dysplasia, Hunter-Thompson Type

Acromesomelic Dysplasia 2c, Hunter-Thompson Type

AMD2C

Acromesomelic Dwarfism

Amdh Acromesomelic Dwarfism

Acromesomelic Dysplasia-2c

Acromesomelic Dysplasia Hunter Thompson Type

Acromesomelic Chondrodysplasia, Hunter-Thompson Type

Amdh

Dysplasia, Acromesomelic, Type 2c, Hunter-Thompson

Acromesomelic Dysplasia Hunter-Thompson Type
Acromesomelic Dysplasia

Acromesomelic Dwarfism

Dysplasia, Acromesomelic

Acromesomelic Dysplasia Hunter-Thompson Type
Gracile Syndrome

Finnish Lethal Neonatal Metabolic Syndrome

Growth Retardation, Amino Aciduria, Cholestasis, Iron Overload, Lactic Acidosis, And Early Death

Flnms

Fellman Syndrome

Fellman Disease

Finnish Lactic Acidosis With Hepatic Hemosiderosis

Growth Restriction-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome

Growth Delay-Aminoaciduria-Cholestasis-Iron Overload-Lactic Acidosis-Early Death Syndrome

Lactic Acidosis, Finnish, With Hepatic Hemosiderosis

Growth Retardation, Aminoaciduria, Cholestasis, Iron Overload, Lactic Acidosis And Early Death

GRACILE
Inverted Papilloma

Inverted Papilloma, Squamous Cell

Papilloma Inverted

Papilloma, Inverted

Inverted Squamous Cell Papilloma
Acromesomelic Dysplasia 2b

Fibular Hypoplasia And Complex Brachydactyly

Du Pan Syndrome

AMD2B

Dupans

Acromesomelic Dysplasia-2b

Fibular Aplasia-Complex Brachydactyly Syndrome
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-RS15493 UQCC1 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 UQCC1 VGNC VGNC:81255
Rattus norvegicus UQCC1 RGD RGD:1585681
Bos taurus UQCC1 VGNC VGNC:36691
Macaca mulatta UQCC1 VGNC VGNC:78989
Canis familiaris UQCC1 VGNC VGNC:48159
Mus musculus UQCC1 MGD MGI:1929472
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