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    C1orf87 chromosome 1 open reading frame 87 [ Homo sapiens (human) ]

    Gene ID: 127795, updated on 6-Jun-2024

    Summary

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    Official Symbol
    C1orf87provided by HGNC
    Official Full Name
    chromosome 1 open reading frame 87provided by HGNC
    Primary source
    HGNC:HGNC:28547
    See related
    Ensembl:ENSG00000162598 MIM:618860; AllianceGenome:HGNC:28547
    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
    CREF
    Expression
    Biased expression in testis (RPKM 1.8), lung (RPKM 1.6) and 3 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C1orf87 in Genome Data Viewer
    Location:
    1p32.1
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (59990394..60073770, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (59868848..59952337, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (60456066..60539442, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene MED14-independent group 3 enhancer GRCh37_chr1:60380537-60381736 Neighboring gene cytochrome P450 family 2 subfamily J member 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:60391793-60392328 Neighboring gene RNA, 7SL, cytoplasmic 475, pseudogene Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:60505410-60506609 Neighboring gene piggyBac transposable element derived 4 pseudogene 8 Neighboring gene long intergenic non-protein coding RNA 2778 Neighboring gene uncharacterized LOC107984963

    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. Quantitative Proteomic Analysis of Human Airway Cilia Identifies Previously Uncharacterized Proteins of High Abundance. Blackburn K, et al. J Proteome Res, 2017 Apr 7. PMID 28282151, Free PMC Article
    2. The lung-specific proteome defined by integration of transcriptomics and antibody-based profiling. Lindskog C, et al. FASEB J, 2014 Dec. PMID 25169055
    3. Open reading frames associated with cancer in the dark matter of the human genome. Delgado AP, et al. Cancer Genomics Proteomics, 2014 Jul-Aug. PMID 25048349
    4. Genome-wide association study of chronic periodontitis in a general German population. Teumer A, et al. J Clin Periodontol, 2013 Nov. PMID 24024966
    5. Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins. Tomkins JE, et al. Proteomics, 2018 May. PMID 29513927, Free PMC Article

    See all (12) 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

    EBI GWAS Catalog

    Description
    Genome-wide association study of chronic periodontitis in a general German population.
    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ44073, MGC34837

    General protein information

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    Preferred Names
    uncharacterized protein C1orf87
    Names
    carcinoma-related EF-hand protein

    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_152377.3 → NP_689590.1  uncharacterized protein C1orf87

      See identical proteins and their annotated locations for NP_689590.1

      Status: VALIDATED

      Source sequence(s)
      BC027878, CD707889
      Consensus CDS
      CCDS614.1
      UniProtKB/Swiss-Prot
      Q6ZU07, Q8IVS0, Q8N0U7
      UniProtKB/TrEMBL
      B3KWE0
      Related
      ENSP00000360244.3, ENST00000371201.3

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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
      59990394..60073770 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017000307.2 → XP_016855796.1  uncharacterized protein C1orf87 isoform X1

      UniProtKB/TrEMBL
      B3KWE0

    2. XM_017000308.2 → XP_016855797.1  uncharacterized protein C1orf87 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      59868848..59952337 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334397.1 → XP_054190372.1  uncharacterized protein C1orf87 isoform X1

      UniProtKB/TrEMBL
      B3KWE0

    2. XM_054334398.1 → XP_054190373.1  uncharacterized protein C1orf87 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N0U7.1 GenPept UniProtKB/Swiss-Prot:Q8N0U7

    Gene LinkOut

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

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