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

    Gene ID: 127703, updated on 17-Sep-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    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

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    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_001348691.2NP_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:1228
      DUF4653; Domain of unknown function (DUF4653)
    2. NM_152374.2NP_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:1228
      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)