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CCDC51 coiled-coil domain containing 51 [ Homo sapiens (human) ]

Gene ID: 79714, updated on 27-Nov-2024

Summary

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Official Symbol
CCDC51provided by HGNC
Official Full Name
coiled-coil domain containing 51provided by HGNC
Primary source
HGNC:HGNC:25714
See related
Ensembl:ENSG00000164051 MIM:618585; AllianceGenome:HGNC:25714
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MITOK
Summary
Enables mitochondrial ATP-gated potassium channel activity. Involved in cell volume homeostasis and mitochondrial potassium ion transmembrane transport. Located in mitochondrial inner membrane. Part of mitochondrial ATP-gated potassium channel complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in kidney (RPKM 4.8), spleen (RPKM 3.8) and 25 other tissues See more
Orthologs
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Genomic context

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See CCDC51 in Genome Data Viewer
Location:
3p21.31
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (48432173..48446652, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (48460186..48474660, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48473583..48481529, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene F-box and WD repeat domain containing 12 Neighboring gene RNA, 7SL, cytoplasmic 321, pseudogene Neighboring gene plexin B1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14326 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14327 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48471449-48472442 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr3:48473797-48474996 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48476193-48477035 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14328 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14329 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19828 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14330 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14331 Neighboring gene ATRIP-TREX1 readthrough Neighboring gene translation machinery associated 7 homolog Neighboring gene ATR interacting protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19829 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48507557-48508438 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48508439-48509318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48509460-48510226 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19831 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48513959-48514818 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19833 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48515680-48516539 Neighboring gene three prime repair exonuclease 1 Neighboring gene shisa family member 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14332 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14333 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48542139-48542692

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Rat skeletal muscle, liver and brain have different fetal and adult forms of the glucose transporter. Wang C, et al. Biochim Biophys Acta, 1988 Dec 8. PMID 3145016
  2. Identification of an ATP-sensitive potassium channel in mitochondria. Paggio A, et al. Nature, 2019 Aug. PMID 31435016, Free PMC Article
  3. Hsp90 cochaperone Aha1 downregulation rescues misfolding of CFTR in cystic fibrosis. Wang X, et al. Cell, 2006 Nov 17. PMID 17110338
  4. The p97/VCP segregase is essential for arsenic-induced degradation of PML and PML-RARA. Jaffray EG, et al. J Cell Biol, 2023 Apr 3. PMID 36880596, Free PMC Article
  5. Histone methyltransferase DOT1L coordinates AR and MYC stability in prostate cancer. Vatapalli R, et al. Nat Commun, 2020 Aug 19. PMID 32814769, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of coiled-coil domain containing 51 (CCDC51) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ12436

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables mitochondrial ATP-gated potassium channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell volume homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrial potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in potassium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
part_of mitochondrial ATP-gated potassium channel complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of mitochondrial ATP-gated potassium channel complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion HTP PubMed 

General protein information

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Preferred Names
mitochondrial potassium channel
Names
coiled-coil domain-containing protein 51

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001256964.2 → NP_001243893.1  mitochondrial potassium channel isoform 1

    See identical proteins and their annotated locations for NP_001243893.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1). Variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC134772
    Consensus CDS
    CCDS2766.2
    UniProtKB/Swiss-Prot
    Q96ER9, Q9HA01
    Related
    ENSP00000379047.2, ENST00000395694.7
    Conserved Domains (1) summary
    TIGR02168
    Location:117 → 272
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  2. NM_001256965.3 → NP_001243894.1  mitochondrial potassium channel isoform 2

    See identical proteins and their annotated locations for NP_001243894.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) uses two alternate splice sites and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3, 4, 5, 6 and 7 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC134772
    Consensus CDS
    CCDS58830.1
    Related
    ENSP00000392898.1, ENST00000442740.1
    Conserved Domains (1) summary
    TIGR02168
    Location:8 → 163
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  3. NM_001256966.3 → NP_001243895.1  mitochondrial potassium channel isoform 2

    See identical proteins and their annotated locations for NP_001243895.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) uses an alternate splice site in the 5' region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3, 4, 5, 6 and 7 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC134772, AL533758, BC011993, BP307614, BQ050243
    Consensus CDS
    CCDS58830.1
    Related
    ENSP00000412300.1, ENST00000447018.5
    Conserved Domains (1) summary
    TIGR02168
    Location:8 → 163
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  4. NM_001256967.3 → NP_001243896.1  mitochondrial potassium channel isoform 2

    See identical proteins and their annotated locations for NP_001243896.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) uses an alternate splice site in the 5' region and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3, 4, 5, 6 and 7 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC134772, AL533758, AW957929, BC011993, BG336520, BP307614
    Consensus CDS
    CCDS58830.1
    Conserved Domains (1) summary
    TIGR02168
    Location:8 → 163
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  5. NM_001256968.3 → NP_001243897.1  mitochondrial potassium channel isoform 2

    See identical proteins and their annotated locations for NP_001243897.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3, 4, 5, 6 and 7 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC134772, AK022498, BC011993
    Consensus CDS
    CCDS58830.1
    Related
    ENSP00000401194.2, ENST00000412398.6
    Conserved Domains (1) summary
    TIGR02168
    Location:8 → 163
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  6. NM_001256969.3 → NP_001243898.1  mitochondrial potassium channel isoform 2

    See identical proteins and their annotated locations for NP_001243898.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (7) differs in the 5' UTR and initiates translation at a downstream, in-frame start codon, compared to variant 1. Variants 3, 4, 5, 6 and 7 encode the same isoform (2), which has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AC134772, BC011993, BP307614, BQ427785
    Consensus CDS
    CCDS58830.1
    Conserved Domains (1) summary
    TIGR02168
    Location:8 → 163
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  7. NM_024661.5 → NP_078937.3  mitochondrial potassium channel isoform 1

    See identical proteins and their annotated locations for NP_078937.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (1).
    Source sequence(s)
    AC134772
    Consensus CDS
    CCDS2766.2
    UniProtKB/Swiss-Prot
    Q96ER9, Q9HA01
    Conserved Domains (1) summary
    TIGR02168
    Location:117 → 272
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    48432173..48446652 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534113.3 → XP_011532415.1  mitochondrial potassium channel isoform X1

    Conserved Domains (1) summary
    TIGR02168
    Location:137 → 292
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

  2. XM_047448938.1 → XP_047304894.1  mitochondrial potassium channel isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    48460186..48474660 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054347886.1 → XP_054203861.1  mitochondrial potassium channel isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96ER9.2 GenPept UniProtKB/Swiss-Prot:Q96ER9

Gene LinkOut

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