CCDC51 - coiled-coil domain containing 51 Gene

Also Known as MITOK

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 79714

About 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.

Summary

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 Products (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

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables mitochondrial ATP-gated potassium channel activity IDA
IDA: Inferred from direct assay
31435016 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
31435016 GOA
Biological Process GO Annotation Evidence References Source
involved in cell volume homeostasis IDA
IDA: Inferred from direct assay
31435016 GOA
involved in mitochondrial potassium ion transmembrane transport IDA
IDA: Inferred from direct assay
31435016 GOA
involved in potassium ion transmembrane transport IDA
IDA: Inferred from direct assay
31435016 GOA
Cellular Component GO Annotation Evidence References Source
part of mitochondrial ATP-gated potassium channel complex IDA
IDA: Inferred from direct assay
31435016 GOA
part of mitochondrial ATP-gated potassium channel complex IPI
IPI: Inferred from physical interaction
31435016 GOA
located in mitochondrial inner membrane IDA
IDA: Inferred from direct assay
3145016 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

mitochondrial potassium channel

  • coiled-coil domain-containing protein 51

Related Diseases

Diseases Alias
Bone Osteosarcoma

  • Osteosarcoma Of Bone

  • Primary Osteosarcoma Of Bone
Diseases Alias
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

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS02049 CCDC51 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others CCDC51 NCBI