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

Gene ID: 282966, updated on 5-Mar-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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Location:
10q11.23
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (49679651..49710261)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (50528463..50559046)
105.20220307 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
  • 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_2023_10

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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