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    C1orf216 chromosome 1 open reading frame 216 [ Homo sapiens (human) ]

    Gene ID: 127703, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C1orf216provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 216provided by HGNC
    Primary source
    HGNC:HGNC:26800
    See related
    Ensembl:ENSG00000142686 AllianceGenome:HGNC:26800
    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
    Broad expression in brain (RPKM 27.7), testis (RPKM 6.2) and 22 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C1orf216 in Genome Data Viewer
    Location:
    1p34.3
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (35713877..35718884, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (35576833..35581840, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (36179478..36184485, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 1763 Neighboring gene proteasome 20S subunit beta 2 Neighboring gene MPRA-validated peak173 silencer Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:36106102-36107067 and GRCh37_chr1:36107068-36108032 Neighboring gene uncharacterized LOC105378646 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36156281-36156798 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:36156799-36157314 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 644 Neighboring gene Sharpr-MPRA regulatory region 7840 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 645 Neighboring gene Sharpr-MPRA regulatory region 10959 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:36191359-36191542 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:36204140-36205339 Neighboring gene claspin Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 646 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 737 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:36272791-36273290 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 648 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 738 Neighboring gene argonaute RISC component 4 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:36315018-36315170

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

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    Related articles in PubMed

    1. The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease. Butland SL, et al. Hum Mol Genet, 2014 Aug 1. PMID 24705354, Free PMC Article
    2. Next-generation sequencing to generate interactome datasets. Yu H, et al. Nat Methods, 2011 Jun. PMID 21516116, Free PMC Article
    3. Towards a proteome-scale map of the human protein-protein interaction network. Rual JF, et al. Nature, 2005 Oct 20. PMID 16189514
    4. Interactome Mapping Provides a Network of Neurodegenerative Disease Proteins and Uncovers Widespread Protein Aggregation in Affected Brains. Haenig C, et al. Cell Rep, 2020 Aug 18. PMID 32814053
    5. A proteome-scale map of the human interactome network. Rolland T, et al. Cell, 2014 Nov 20. PMID 25416956, Free PMC Article

    See all (8) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ38984

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    UPF0500 protein C1orf216

    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_001348691.2 → NP_001335620.1  UPF0500 protein C1orf216

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AK096303, AL354864, DC314927
      Consensus CDS
      CCDS395.1
      UniProtKB/Swiss-Prot
      D3DPS1, Q8N8N6, Q8TAB5
      UniProtKB/TrEMBL
      B4DG08, E7ERE0
      Conserved Domains (1) summary
      pfam15546
      Location:1 → 228
      DUF4653; Domain of unknown function (DUF4653)

    2. NM_152374.2 → NP_689587.1  UPF0500 protein C1orf216

      See identical proteins and their annotated locations for NP_689587.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AK096303
      Consensus CDS
      CCDS395.1
      UniProtKB/Swiss-Prot
      D3DPS1, Q8N8N6, Q8TAB5
      UniProtKB/TrEMBL
      B4DG08, E7ERE0
      Related
      ENSP00000425166.1, ENST00000270815.5
      Conserved Domains (1) summary
      pfam15546
      Location:1 → 228
      DUF4653; Domain of unknown function (DUF4653)

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      35713877..35718884 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      35576833..35581840 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TAB5.1 GenPept UniProtKB/Swiss-Prot:Q8TAB5

    Gene LinkOut

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

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