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C1orf52 chromosome 1 open reading frame 52 [ Homo sapiens (human) ]

Gene ID: 148423, updated on 12-Oct-2019

Summary

Official Symbol
C1orf52provided by HGNC
Official Full Name
chromosome 1 open reading frame 52provided by HGNC
Primary source
HGNC:HGNC:24871
See related
Ensembl:ENSG00000162642
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
gm117
Expression
Ubiquitous expression in brain (RPKM 7.8), bone marrow (RPKM 7.7) and 25 other tissues See more
Orthologs

Genomic context

See C1orf52 in Genome Data Viewer
Location:
1p22.3
Exon count:
4
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (85249953..85259677, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (85715636..85725355, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene synapse defective Rho GTPase homolog 2 Neighboring gene uncharacterized LOC105378821 Neighboring gene uncharacterized LOC646626 Neighboring gene BCL10 immune signaling adaptor Neighboring gene dimethylarginine dimethylaminohydrolase 1 Neighboring gene uncharacterized LOC107985054

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ44982

Gene Ontology Provided by GOA

Function Evidence Code Pubs
RNA binding HDA PubMed 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
UPF0690 protein C1orf52
Names
BCL10-associated gene protein

NCBI Reference Sequences (RefSeq)

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_198077.4NP_932343.1  UPF0690 protein C1orf52

    See identical proteins and their annotated locations for NP_932343.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the more frequently occurring transcript. It encodes a 182 aa protein.
    Source sequence(s)
    AK126929, AL590113, AY486331, BX118798
    Consensus CDS
    CCDS703.1
    UniProtKB/Swiss-Prot
    Q8N6N3
    Related
    ENSP00000419417.1, ENST00000471115.6
    Conserved Domains (1) summary
    pfam15559
    Location:30127
    DUF4660; Domain of unknown function (DUF4660)

RNA

  1. NR_024113.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) includes an alternate exon in the coding region, compared to variant 1, which results in a frameshift and early stop codon. The transcript is sufficiently abundant to represent as a RefSeq record; however, the predicted protein is not represented because the product is significantly truncated and the transcript is a candidate for nonsense-mediated decay (NMD).
    Source sequence(s)
    AL590113, AY486332, BX118798, DA214065
    Related
    ENST00000294661.8

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    85249953..85259677 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453363.1XP_024309131.1  UPF0690 protein C1orf52 isoform X1

    Conserved Domains (1) summary
    pfam15559
    Location:30127
    DUF4660; Domain of unknown function (DUF4660)
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