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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	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	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02049	CCDC51 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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