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

    Gene ID: 79714, updated on 5-May-2013
    Official Symbol
    CCDC51provided by HGNC
    Official Full Name
    coiled-coil domain containing 51provided by HGNC
    Primary source
    HGNC:25714
    See related
    Ensembl:ENSG00000164051; HPRD:08571; Vega:OTTHUMG00000133534
    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
    Location :
    3p21.31
    Sequence :
    Chromosome: 3; NC_000003.11 (48473580..48481529, complement)
    See CCDC51 in Epigenomics, MapViewer

    Chromosome 3 - NC_000003.11Genomic Context describing neighboring genes Neighboring gene F-box and WD repeat domain containing 12 Neighboring gene plexin B1 Neighboring gene translation machinery associated 7 homolog (S. cerevisiae) Neighboring gene ATR interacting protein Neighboring gene three prime repair exonuclease 1

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. Global identification of modular cullin-RING ligase substrates. Emanuele MJ, et al. Cell, 2011 Oct 14. PMID 21963094.
    2. Systematic and quantitative assessment of the ubiquitin-modified proteome. Kim W, et al. Mol Cell, 2011 Oct 21. PMID 21906983.
    3. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. Hendrickson SL, et al. PLoS One, 2010 Sep 21. PMID 20877624.
    4. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348.
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. Lamesch P, et al. Genomics, 2007 Mar. PMID 17207965.

    See all (10) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    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

    Review eQTL and phenotype association data in this region using PheGenI

    Products Interactant Other Gene Complex Source Pubs Description
    BioGRID:122831 BioGRID:107506 CFTR    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:122831 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 

    Markers

    Genotypes

    Homology

    Clone Names

    • FLJ12436

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    integral to membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    mitochondrion IDA
    Inferred from Direct Assay
    more info
    		  
    NOT nucleolus IDA
    Inferred from Direct Assay
    more info
    		  
    nucleus IDA
    Inferred from Direct Assay
    more info
    		  
    Preferred Names
    coiled-coil domain-containing protein 51
    Names
    coiled-coil domain-containing protein 51

    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_001256964.1 → NP_001243893.1  coiled-coil domain-containing protein 51 isoform 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)
      AA749172, AL533758, BC011993, BG336520, BM810621, BP307614
      Consensus CDS
      CCDS2766.2
      UniProtKB/Swiss-Prot
      Q96ER9
      Related
      ENSP00000379047, OTTHUMP00000210092, ENST00000395694, OTTHUMT00000344599
      Conserved Domains (1) summary
      TIGR02169
      Location:112 – 201
      Blast Score: 87
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

    2. NM_001256965.1 → NP_001243894.1  coiled-coil domain-containing protein 51 isoform 2

      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)
      AA749172, AL533758, BC011993, BI755881, BP307614
      Consensus CDS
      CCDS58830.1
      UniProtKB/Swiss-Prot
      Q96ER9
      Related
      ENSP00000392898, OTTHUMP00000210091, ENST00000442740, OTTHUMT00000344598

    3. NM_001256966.1 → NP_001243895.1  coiled-coil domain-containing protein 51 isoform 2

      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)
      AA749172, AL533758, BC011993, BP307614, BQ050243
      Consensus CDS
      CCDS58830.1
      UniProtKB/Swiss-Prot
      Q96ER9
      Related
      ENSP00000412300, OTTHUMP00000210090, ENST00000447018, OTTHUMT00000344597

    4. NM_001256967.1 → NP_001243896.1  coiled-coil domain-containing protein 51 isoform 2

      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)
      AA749172, AL533758, AW957929, BC011993, BG336520, BP307614
      Consensus CDS
      CCDS58830.1
      UniProtKB/Swiss-Prot
      Q96ER9

    5. NM_001256968.1 → NP_001243897.1  coiled-coil domain-containing protein 51 isoform 2

      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)
      AA749172, AK022498, BC011993
      Consensus CDS
      CCDS58830.1
      UniProtKB/Swiss-Prot
      Q96ER9
      Related
      ENSP00000401194, OTTHUMP00000164815, ENST00000412398, OTTHUMT00000257511

    6. NM_001256969.1 → NP_001243898.1  coiled-coil domain-containing protein 51 isoform 2

      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)
      AA749172, BC011993, BP307614, BQ427785
      Consensus CDS
      CCDS58830.1
      UniProtKB/Swiss-Prot
      Q96ER9

    7. NM_024661.4 → NP_078937.3  coiled-coil domain-containing protein 51 isoform 1

      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)
      AA749172, BC011993, BP307614
      Consensus CDS
      CCDS2766.2
      UniProtKB/Swiss-Prot
      Q96ER9
      Related
      ENSP00000379049, ENST00000395696
      Conserved Domains (1) summary
      TIGR02169
      Location:112 – 201
      Blast Score: 87
      SMC_prok_A; chromosome segregation protein SMC, primarily archaeal type

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000003.11 Reference GRCh37.p10 Primary Assembly

      Range
      48473580..48481529, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000135.1 Alternate HuRef

      Range
      48527884..48535833, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.0

    Genomic

    1. NC_018914.1 Alternate CHM1_1.0

      Range
      48404601..48412550, complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic ABBA01024651.1 (2054..10003) None
    genomic AC104448.2 (91553..99489) None
    genomic AMYH01013149.1 (219887..227836) None
    genomic CH471055.1 EAW64867.1
      EAW64868.1
      EAW64869.1
      EAW64870.1
      EAW64871.1
      EAW64872.1
    mRNA AA749172.1 None
    mRNA AK022498.1 BAB14060.1
    mRNA AL533758.3 None
    mRNA AW957929.1 None
    mRNA BC004341.1 None
    mRNA BC011993.1 AAH11993.1
    mRNA BG336520.1 None
    mRNA BI755881.1 None
    mRNA BM810621.1 None
    mRNA BP307614.1 None
    mRNA BQ050243.1 None
    mRNA BQ427785.1 None
    mRNA CN259750.1 None
    other-genetic HQ448219.1 ADQ32699.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96ER9.2 GenPept UniProtKB/Swiss-Prot:Q96ER9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioAssays, RNAi Target,Active
        BioAssays, RNAi Target,Active
      • BioProjects
        BioProjects related to a gene
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • Nucleotide
        Link to related Nucleotide entry
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

      Links to other resources

      General information

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