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    CCDC160 coiled-coil domain containing 160 [ Homo sapiens (human) ]

    Gene ID: 347475, updated on 27-Nov-2024

    Summary

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    Official Symbol
    CCDC160provided by HGNC
    Official Full Name
    coiled-coil domain containing 160provided by HGNC
    Primary source
    HGNC:HGNC:37286
    See related
    Ensembl:ENSG00000203952 AllianceGenome:HGNC:37286
    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
    Expression
    Biased expression in salivary gland (RPKM 3.1), kidney (RPKM 2.6) and 11 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See CCDC160 in Genome Data Viewer
    Location:
    Xq26.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (134237182..134246842)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (132562356..132572021)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (133371212..133380872)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:133306183-133306990 Neighboring gene Sharpr-MPRA regulatory region 650 Neighboring gene miR-106a-363 cluster host gene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chrX:133314265-133314827 Neighboring gene microRNA 106a Neighboring gene LARP1B pseudogene 3 Neighboring gene NANOG hESC enhancer GRCh37_chrX:133374068-133374687 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:133381318-133381517 Neighboring gene NT5DC1 pseudogene 2 Neighboring gene ReSE screen-validated silencer GRCh37_chrX:133515535-133515735 Neighboring gene PHD finger protein 6

    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. Genome-wide association study of primary dentition pit-and-fissure and smooth surface caries. Zeng Z, et al. Caries Res, 2014. PMID 24556642, Free PMC Article
    2. The DNA sequence of the human X chromosome. Ross MT, et al. Nature, 2005 Mar 17. PMID 15772651, Free PMC Article
    3. The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis. Capalbo L, et al. Nat Commun, 2019 Oct 4. PMID 31586073, Free PMC Article
    4. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article
    5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-Wide Association Study of Primary Dentition Pit-and-Fissure and Smooth Surface Caries.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    General protein information

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    Preferred Names
    coiled-coil domain-containing protein 160
    Names
    UPF0625 coiled-coil domain-containing protein ENSP00000359845

    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_001101357.3 → NP_001094827.1  coiled-coil domain-containing protein 160

      See identical proteins and their annotated locations for NP_001094827.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 all encode the same protein.
      Source sequence(s)
      AC004409, KF459428
      Consensus CDS
      CCDS48171.1
      UniProtKB/Swiss-Prot
      A6NGH7
      Related
      ENSP00000359845.4, ENST00000370809.5

    2. NM_001353453.3 → NP_001340382.1  coiled-coil domain-containing protein 160

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1, 2 and 3 all encode the same protein.
      Source sequence(s)
      AC004409, KF459428
      Consensus CDS
      CCDS48171.1
      UniProtKB/Swiss-Prot
      A6NGH7
      Related
      ENSP00000511932.1, ENST00000695460.1

    3. NM_001393996.1 → NP_001380925.1  coiled-coil domain-containing protein 160

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR compared to variant 1. Variants 1, 2 and 3 all encode the same protein.
      Source sequence(s)
      AC004409, KF459428
      Consensus CDS
      CCDS48171.1
      UniProtKB/Swiss-Prot
      A6NGH7
      Related
      ENSP00000427951.1, ENST00000517294.5

    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_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      134237182..134246842
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      132562356..132572021
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    A6NGH7.3 GenPept UniProtKB/Swiss-Prot:A6NGH7

    Gene LinkOut

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

    Chemical Information
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