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

Gene ID: 388722, updated on 5-Aug-2022

Summary

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
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Genomic context

See C1orf53 in Genome Data Viewer
Location:
1q31.3
Exon count:
3
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (197902630..197907362)
110 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 Sharpr-MPRA regulatory region 12429 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr1:197782608-197783566 Neighboring gene LIM homeobox 9 Neighboring gene NIMA related kinase 7 Neighboring gene proline rich 13 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • 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

Phenotypes

EBI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

General protein information

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_001024594.3NP_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
    Q5VUE4, Q5VUE5
    Related
    ENSP00000356363.3, ENST00000367393.8

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)