Aliases for CCDC51 Gene

Aliases for CCDC51 Gene

  • Coiled-Coil Domain Containing 51 2 3 5
  • Coiled-Coil Domain-Containing Protein 51 3 4
  • Mitochondrial Potassium Channel 3 4
  • MITOK 3 4
  • FLJ12436 2
  • CCDC51 5

External Ids for CCDC51 Gene

Previous GeneCards Identifiers for CCDC51 Gene

  • GC03M048450
  • GC03M048473

Summaries for CCDC51 Gene

GeneCards Summary for CCDC51 Gene

CCDC51 (Coiled-Coil Domain Containing 51) is a Protein Coding gene.

UniProtKB/Swiss-Prot Summary for CCDC51 Gene

  • Mitochondrial potassium channel located in the mitochondrial inner membrane (PubMed:31435016). Together with ABCB8/MITOSUR, forms a protein complex localized in the mitochondria that mediates ATP-dependent potassium currents across the inner membrane (that is, mitoK(ATP) channel) (PubMed:31435016). May contribute to the homeostatic control of cellular metabolism under stress conditions by regulating the mitochondrial matrix volume (PubMed:31435016).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CCDC51 Gene

Genomics for CCDC51 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CCDC51 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CCDC51 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CCDC51

Top Transcription factor binding sites by QIAGEN in the CCDC51 gene promoter:
  • ATF
  • CREB
  • deltaCREB
  • Hlf
  • p53
  • SRF
  • SRF (504 AA)

Genomic Locations for CCDC51 Gene

Genomic Locations for CCDC51 Gene
chr3:48,432,164-48,446,652
(GRCh38/hg38)
Size:
14,489 bases
Orientation:
Minus strand
chr3:48,473,574-48,481,866
(GRCh37/hg19)
Size:
8,293 bases
Orientation:
Minus strand

Genomic View for CCDC51 Gene

Genes around CCDC51 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CCDC51 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC51 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CCDC51 Gene

Proteins for CCDC51 Gene

  • Protein details for CCDC51 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96ER9-MITOK_HUMAN
    Recommended name:
    Mitochondrial potassium channel
    Protein Accession:
    Q96ER9
    Secondary Accessions:
    • Q9HA01

    Protein attributes for CCDC51 Gene

    Size:
    411 amino acids
    Molecular mass:
    45811 Da
    Quaternary structure:
    • The mitochondrial potassium channel (mitoK(ATP)) is composed of 4 subunits of CCDC51/MITOK and 4 subunits of ABCB8/MITOSUR.
    SequenceCaution:
    • Sequence=AAH11993.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for CCDC51 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC51 Gene

Post-translational modifications for CCDC51 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CCDC51 Gene

Domains & Families for CCDC51 Gene

Gene Families for CCDC51 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for CCDC51 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC51 Gene

GenScript: Design optimal peptide antigens:
  • Coiled-coil domain-containing protein 51 (CCD51_HUMAN)
genes like me logo Genes that share domains with CCDC51: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CCDC51 Gene

Function for CCDC51 Gene

Molecular function for CCDC51 Gene

UniProtKB/Swiss-Prot Function:
Mitochondrial potassium channel located in the mitochondrial inner membrane (PubMed:31435016). Together with ABCB8/MITOSUR, forms a protein complex localized in the mitochondria that mediates ATP-dependent potassium currents across the inner membrane (that is, mitoK(ATP) channel) (PubMed:31435016). May contribute to the homeostatic control of cellular metabolism under stress conditions by regulating the mitochondrial matrix volume (PubMed:31435016).
UniProtKB/Swiss-Prot EnzymeRegulation:
Channel activity inhibited by ATP via ABCB8/MITOSUR subunit.

Phenotypes From GWAS Catalog for CCDC51 Gene

Gene Ontology (GO) - Molecular Function for CCDC51 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005267 potassium channel activity IEA --
genes like me logo Genes that share ontologies with CCDC51: view
genes like me logo Genes that share phenotypes with CCDC51: view

Animal Models for CCDC51 Gene

MGI Knock Outs for CCDC51:

Animal Model Products

CRISPR Products

miRNA for CCDC51 Gene

miRTarBase miRNAs that target CCDC51

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC51

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CCDC51 Gene

Localization for CCDC51 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CCDC51 Gene

Mitochondrion inner membrane. Multi-pass membrane protein.
[Isoform 1]: Mitochondrion inner membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC51 gene
Compartment Confidence
mitochondrion 5
nucleus 2
endosome 1
plasma membrane 0
extracellular 0
cytosol 0
lysosome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (3)
  • Centrosome (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CCDC51 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031305 integral component of mitochondrial inner membrane IDA 31435016
genes like me logo Genes that share ontologies with CCDC51: view

Pathways & Interactions for CCDC51 Gene

PathCards logo

SuperPathways for CCDC51 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC51 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006813 potassium ion transport IEA --
GO:0071805 potassium ion transmembrane transport IEA,IDA 31435016
genes like me logo Genes that share ontologies with CCDC51: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC51 Gene

Drugs & Compounds for CCDC51 Gene

(1) Drugs for CCDC51 Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sevoflurane Approved, Vet_approved Pharma Target, activator 736
genes like me logo Genes that share compounds with CCDC51: view

Transcripts for CCDC51 Gene

mRNA/cDNA for CCDC51 Gene

7 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CCDC51

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC51 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c · 6d
SP1: - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: -
SP6: - - -

Relevant External Links for CCDC51 Gene

GeneLoc Exon Structure for
CCDC51

Expression for CCDC51 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CCDC51 Gene

Protein differential expression in normal tissues from HIPED for CCDC51 Gene

This gene is overexpressed in Urine (9.5) and Bone (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CCDC51 Gene



Protein tissue co-expression partners for CCDC51 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CCDC51

SOURCE GeneReport for Unigene cluster for CCDC51 Gene:

Hs.187657

mRNA Expression by UniProt/SwissProt for CCDC51 Gene:

Q96ER9-MITOK_HUMAN
Tissue specificity: Isoform 1: Widely expressed (PubMed:31435016). Isoform 2: Expression is barely detectable (PubMed:31435016).

Evidence on tissue expression from TISSUES for CCDC51 Gene

  • Liver(4.3)
genes like me logo Genes that share expression patterns with CCDC51: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC51 Gene

Orthologs for CCDC51 Gene

This gene was present in the common ancestor of animals.

Orthologs for CCDC51 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia CCDC51 30 31
  • 99.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CCDC51 30 31
  • 87.97 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CCDC51 30 31
  • 85.97 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ccdc51 30
  • 83.2 (n)
Mouse
(Mus musculus)
Mammalia Ccdc51 30 17 31
  • 82.76 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CCDC51 31
  • 63 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CCDC51 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CCDC51 30 31
  • 63.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CCDC51 31
  • 55 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ccdc51 30
  • 59.28 (n)
Zebrafish
(Danio rerio)
Actinopterygii ccdc51 30 31
  • 55.75 (n)
OneToOne
Dr.6242 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.7497 30
Worm
(Caenorhabditis elegans)
Secernentea ZC477.3 30 31
  • 45.02 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
OneToOne
Species where no ortholog for CCDC51 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for CCDC51 Gene

ENSEMBL:
Gene Tree for CCDC51 (if available)
TreeFam:
Gene Tree for CCDC51 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CCDC51: view image

Paralogs for CCDC51 Gene

No data available for Paralogs for CCDC51 Gene

Variants for CCDC51 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CCDC51 Gene

SNP ID Clinical significance and condition Chr 03 pos Variation AA Info Type
711936 Benign: not provided 48,433,151(-) G/A MISSENSE_VARIANT
784001 Benign: not provided 48,432,676(-) T/C MISSENSE_VARIANT
784002 Benign: not provided 48,434,997(-) G/A SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
rs7618609 - p.Phe360Ser

Additional dbSNP identifiers (rs#s) for CCDC51 Gene

Structural Variations from Database of Genomic Variants (DGV) for CCDC51 Gene

Variant ID Type Subtype PubMed ID
nsv508917 CNV insertion 20534489
nsv590242 CNV loss 21841781
nsv834683 CNV gain 17160897
nsv834684 CNV gain 17160897
nsv954483 CNV deletion 24416366

Variation tolerance for CCDC51 Gene

Residual Variation Intolerance Score: 78.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.80; 47.49% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CCDC51 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC51

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC51 Gene

Disorders for CCDC51 Gene

Additional Disease Information for CCDC51

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform

No disorders were found for CCDC51 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCDC51 Gene

Publications for CCDC51 Gene

  1. Identification of an ATP-sensitive potassium channel in mitochondria. (PMID: 31435016) Paggio A … De Stefani D (Nature 2019) 2 3 4
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. An AP-MS- and BioID-compatible MAC-tag enables comprehensive mapping of protein interactions and subcellular localizations. (PMID: 29568061) Liu X … Varjosalo M (Nature communications 2018) 3

Products for CCDC51 Gene

Sources for CCDC51 Gene