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C1orf53 chromosome 1 open reading frame 53 [ Homo sapiens (human) ]

Gene ID: 388722, updated on 5-Mar-2024

Summary

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Official Symbol
C1orf53provided by HGNC
Official Full Name
chromosome 1 open reading frame 53provided by HGNC
Primary source
HGNC:HGNC:30003
See related
Ensembl:ENSG00000203724 AllianceGenome:HGNC:30003
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 liver (RPKM 2.5), colon (RPKM 1.5) and 19 other tissues See more
Orthologs
mouse all
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Genomic context

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See C1orf53 in Genome Data Viewer
Location:
1q31.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (197902630..197907362)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (197162026..197166759)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (197871760..197876492)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene DENN domain containing 1B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1661 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1662 Neighboring gene Sharpr-MPRA regulatory region 12429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2276 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:197757007-197757507 Neighboring gene RPL24 pseudogene 5 Neighboring gene family with sequence similarity 204 member B, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:197769368-197770108 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:197771590-197772329 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:197779872-197780608 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:197782608-197783566 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:197783567-197784524 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr1:197859970-197860527 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:197887073-197887799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:197890605-197891127 Neighboring gene LIM homeobox 9 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:198001212-198001386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:198025825-198026449 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2278 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2277 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2279 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2280 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2281 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2282 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1666 Neighboring gene NIMA related kinase 7 Neighboring gene proline rich 13 pseudogene 1

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. KIF14 is a candidate oncogene in the 1q minimal region of genomic gain in multiple cancers. Corson TW, et al. Oncogene, 2005 Jul 14. PMID 15897902
  2. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Jostins L, et al. Nature, 2012 Nov 1. PMID 23128233, Free PMC Article
  3. Rewiring of the Human Mitochondrial Interactome during Neuronal Reprogramming Reveals Regulators of the Respirasome and Neurogenesis. Moutaoufik MT, et al. iScience, 2019 Sep 27. PMID 31536960, Free PMC Article
  4. The DNA sequence and biological annotation of human chromosome 1. Gregory SG, et al. Nature, 2006 May 18. PMID 16710414
  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

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
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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Homology

General protein information

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Preferred Names
uncharacterized protein C1orf53

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_001024594.3 → NP_001019765.1  uncharacterized protein C1orf53

    See identical proteins and their annotated locations for NP_001019765.1

    Status: VALIDATED

    Source sequence(s)
    BC038214, BC130634
    Consensus CDS
    CCDS44290.1
    UniProtKB/Swiss-Prot
    A1L4N2, Q5VUE4, Q5VUE5
    Related
    ENSP00000356363.3, ENST00000367393.8

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
    197902630..197907362
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    197162026..197166759
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q5VUE5.1 GenPept UniProtKB/Swiss-Prot:Q5VUE5

Gene LinkOut

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

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