1. Gene
  2. CCDC51 - coiled-coil domain containing 51 Gene

CCDC51 - coiled-coil domain containing 51 Gene

中文名称:含卷曲螺旋结构域 51

种属: Homo sapiens

同用名: MITOK

基因 ID: 79714 | 基因类型: protein coding

关于 CCDC51

Cytogenetic location: 3p21.31 Genomic coordinates (GRCh38): 3:48,432,173-48,446,652 (from NCBI)

This gene has 6 transcripts (splice variants) and 88 orthologues. Ubiquitous expression in kidney (RPKM 4.8), spleen (RPKM 3.8) and 25 other tissues.

功能概要

启用线粒体 ATP 门控钾通道活性。参与钾离子跨膜转运。是线粒体内膜的组成部分。线粒体 ATP 门控钾通道复合物的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables mitochondrial ATP-gated Potassium Channel activity. Involved in potassium ion transmembrane transport. Is integral component of mitochondrial inner membrane. Part of mitochondrial ATP-gated Potassium Channel complex. [provided by Alliance of Genome Resources, Apr 2022]

CCDC51 基因产物(7)

mRNA Protein Name
NM_001256964.2 NP_001243893.1 mitochondrial potassium channel isoform 1
NM_001256965.3 NP_001243894.1 mitochondrial potassium channel isoform 2
NM_001256966.3 NP_001243895.1 mitochondrial potassium channel isoform 2
NM_001256967.3 NP_001243896.1 mitochondrial potassium channel isoform 2
NM_001256968.3 NP_001243897.1 mitochondrial potassium channel isoform 2
NM_001256969.3 NP_001243898.1 mitochondrial potassium channel isoform 2
NM_024661.5 NP_078937.3 mitochondrial potassium channel isoform 1
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 mitochondrial ATP-gated potassium channel activity IDA
IDA: 通过直接分析推断
31435016 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
31435016 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cell volume homeostasis IDA
IDA: 通过直接分析推断
31435016 GOA
involved in mitochondrial potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
31435016 GOA
involved in potassium ion transmembrane transport IDA
IDA: 通过直接分析推断
31435016 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of mitochondrial ATP-gated potassium channel complex IDA
IDA: 通过直接分析推断
31435016 GOA
part of mitochondrial ATP-gated potassium channel complex IPI
IPI: 通过物理相互作用推断
31435016 GOA
located in mitochondrial inner membrane IDA
IDA: 通过直接分析推断
3145016 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
蛋白主名 其他名称

mitochondrial potassium channel

coiled-coil domain-containing protein 51

关联疾病

疾病名称 别名
Bone Osteosarcoma

Osteosarcoma Of Bone

Primary Osteosarcoma Of Bone

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 CCDC51 VGNC VGNC:38841
Macaca mulatta CCDC51 VGNC VGNC:110375
Bos taurus CCDC51 VGNC VGNC:26899
Mus musculus CCDC51 MGD MGI:1913908
Rattus norvegicus CCDC51 RGD RGD:1311466
Felis catus CCDC51 VGNC VGNC:60504