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    C10orf53 chromosome 10 open reading frame 53 [ Homo sapiens (human) ]

    Gene ID: 282966, updated on 17-Sep-2024

    Summary

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    Official Symbol
    C10orf53provided by HGNC
    Official Full Name
    chromosome 10 open reading frame 53provided by HGNC
    Primary source
    HGNC:HGNC:27421
    See related
    Ensembl:ENSG00000178645 AllianceGenome:HGNC:27421
    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
    Restricted expression toward testis (RPKM 9.4) See more
    Orthologs
    mouse all
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    Genomic context

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    See C10orf53 in Genome Data Viewer
    Location:
    10q11.23
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (49679651..49710261)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (50528463..50559046)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (50887697..50918307)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene high mobility group box 1 pseudogene 50 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50801171-50801672 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50801673-50802172 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50802781-50803282 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50803283-50803782 Neighboring gene Sharpr-MPRA regulatory region 3429 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50816693-50817488 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50817489-50818283 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50819328-50820224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:50820225-50821122 Neighboring gene solute carrier family 18 member A3 Neighboring gene choline O-acetyltransferase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50856078-50856929 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50856930-50857780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50858633-50859483 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr10:50897886-50898488 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr10:50898489-50899090 Neighboring gene oxoglutarate dehydrogenase L Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50965991-50966502 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:50966503-50967012 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2364 Neighboring gene mitogen-activated protein kinase 6 pseudogene 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 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. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. Rose JE, et al. Mol Med, 2010 Jul-Aug. PMID 20379614, Free PMC Article
    2. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. Kimura K, et al. Genome Res, 2006 Jan. PMID 16344560, Free PMC Article
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. Ota T, et al. Nat Genet, 2004 Jan. PMID 14702039
    4. Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. Huttlin EL, et al. Cell, 2021 May 27. PMID 33961781, Free PMC Article
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, et al. Genome Res, 2004 Oct. PMID 15489334, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    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)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Potential readthrough

    Included gene: CHAT

    Homology

    Clone Names

    • FLJ60598

    General protein information

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    Preferred Names
    UPF0728 protein C10orf53

    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_001042427.3 → NP_001035892.1  UPF0728 protein C10orf53 isoform b

      See identical proteins and their annotated locations for NP_001035892.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) contains an alternate 3' terminal exon, compared to variant 1. It encodes isoform b, which is shorter and has a distinct C-terminus, compared to isoform a.
      Source sequence(s)
      AC073366
      Consensus CDS
      CCDS41521.1
      UniProtKB/Swiss-Prot
      A6NI81, A6NLE0, B9ZVK6, Q8N6V4
      Related
      ENSP00000363225.3, ENST00000374111.8
      Conserved Domains (1) summary
      pfam15092
      Location:1 → 89
      UPF0728; uncharacterized protein family UPF0728

    2. NM_182554.4 → NP_872360.2  UPF0728 protein C10orf53 isoform a

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (a).
      Source sequence(s)
      AC069546, AC073366
      Consensus CDS
      CCDS31202.1
      UniProtKB/Swiss-Prot
      Q8N6V4
      Related
      ENSP00000363226.3, ENST00000374112.7
      Conserved Domains (1) summary
      pfam15092
      Location:1 → 77
      UPF0728; uncharacterized protein family UPF0728

    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_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      49679651..49710261
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      50528463..50559046
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8N6V4.3 GenPept UniProtKB/Swiss-Prot:Q8N6V4

    Gene LinkOut

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

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