• Gene id: 79714

Gene Summary

• Gene Symbol: CCDC51   Gene   UCSC   Ensembl
• Aliases: MITOK
• Gene name: coiled-coil domain containing 51
• Alternate names: mitochondrial potassium channel, coiled-coil domain-containing protein 51,
• Gene location: 3p21.31 (48446651: 48432169)     Exons: 6     NC_000003.12
• OMIM: 618585

Protein Summary

• Protein general information: Q96ER9  
  • Name: Mitochondrial potassium channel (MITOK) (Coiled coil domain containing protein 51)
  • Length: 411  
  • Mass: 45811
  • Tissue specificity: Isoform 1
• Sequence:

  MMGRSPGFAMQHIVGVPHVLVRRGLLGRDLFMTRTLCSPGPSQPGEKRPEEVALGLHHRLPALGRALGHSIQQRA
  TSTAKTWWDRYEEFVGLNEVREAQGKVTEAEKVFMVARGLVREAREDLEVHQAKLKEVRDRLDRVSREDSQYLEL
  ATLEHRMLQEEKRLRTAYLRAEDSEREKFSLFSAAVRESHEKERTRAERTKNWSLIGSVLGALIGVAGSTYVNRV
  RLQELKALLLEAQKGPVSLQEAIREQASSYSRQQRDLHNLMVDLRGLVHAAGPGQDSGSQAGSPPTRDRDVDVLS
  AALKEQLSHSRQVHSCLEGLREQLDGLEKTCSQMAGVVQLVKSAAHPGLVEPADGAMPSFLLEQGSMILALSDTE
  QRLEAQVNRNTIYSTLVTCVTFVATLPVLYMLFKAS

• Structural information:
  • Interpro: IPR037660  
  • STRING: ENSP00000379047
• Other Databases: GeneCards:  CCDC51  Malacards:  CCDC51

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0062157	mitochondrial ATP-gated potassium channel complex	IDA	cellular component
GO:0062156	mitochondrial ATP-gated potassium channel activity	IDA	molecular function
GO:0031305	integral component of mitochondrial inner membrane	IDA	cellular component
GO:0071805	potassium ion transmembrane transport	IDA	biological process
GO:0005267	potassium channel activity	IEA	molecular function
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0062156	mitochondrial ATP-gated potassium channel activity	IEA	molecular function
GO:0034705	potassium channel complex	IEA	cellular component
GO:0071805	potassium ion transmembrane transport	IEA	biological process
GO:0031305	integral component of mitochondrial inner membrane	IEA	cellular component
GO:0005743	mitochondrial inner membrane	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Male factor infertility	MIK: 29961538
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
29961538	Male factor infertility			318 (128 couples presenting with OAT (MF) and 118 maternal age-matched control (no MF) subjects undergoing infertility treatment, 72 surplus cryopreserved blastocysts)	Male infertility	RNA-seq