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

Gene ID: 79714, updated on 25-Nov-2021

Summary

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
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
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

See CCDC51 in Genome Data Viewer
Location:
3p21.31
Exon count:
6
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (48432170..48446652, complement)
105.20201022 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 uncharacterized LOC105377077 Neighboring gene ATRIP-TREX1 readthrough Neighboring gene translation machinery associated 7 homolog Neighboring gene ATR interacting protein Neighboring gene three prime repair exonuclease 1 Neighboring gene shisa family member 5

Genomic regions, transcripts, and products

Expression

  • 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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ12436

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001256964.2NP_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
    Related
    ENSP00000379047.2, ENST00000395694.7
    Conserved Domains (1) summary
    TIGR02168
    Location:117272
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  2. NM_001256965.3NP_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
    UniProtKB/Swiss-Prot
    Q96ER9
    UniProtKB/TrEMBL
    A0A024R2V4
    Related
    ENSP00000392898.1, ENST00000442740.1
    Conserved Domains (1) summary
    TIGR02168
    Location:8163
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  3. NM_001256966.3NP_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
    UniProtKB/Swiss-Prot
    Q96ER9
    UniProtKB/TrEMBL
    A0A024R2V4
    Related
    ENSP00000412300.1, ENST00000447018.5
    Conserved Domains (1) summary
    TIGR02168
    Location:8163
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  4. NM_001256967.3NP_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
    UniProtKB/Swiss-Prot
    Q96ER9
    UniProtKB/TrEMBL
    A0A024R2V4
    Conserved Domains (1) summary
    TIGR02168
    Location:8163
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  5. NM_001256968.3NP_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
    UniProtKB/Swiss-Prot
    Q96ER9
    UniProtKB/TrEMBL
    A0A024R2V4
    Related
    ENSP00000401194.2, ENST00000412398.6
    Conserved Domains (1) summary
    TIGR02168
    Location:8163
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  6. NM_001256969.3NP_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
    UniProtKB/Swiss-Prot
    Q96ER9
    UniProtKB/TrEMBL
    A0A024R2V4
    Conserved Domains (1) summary
    TIGR02168
    Location:8163
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
  7. NM_024661.5NP_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
    Conserved Domains (1) summary
    TIGR02168
    Location:117272
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    48432170..48446652 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534113.2XP_011532415.1  mitochondrial potassium channel isoform X1

    Conserved Domains (1) summary
    TIGR02168
    Location:137292
    SMC_prok_B; chromosome segregation protein SMC, common bacterial type
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