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

CCDC51 - coiled-coil domain containing 51 Gene

Homo sapiens

Also known as MITOK

Gene ID: 79714 | Gene type: protein coding

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
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

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