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C15orf48 chromosome 15 open reading frame 48 [ Homo sapiens (human) ]

Gene ID: 84419, updated on 2-Nov-2024

Summary

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Official Symbol
C15orf48provided by HGNC
Official Full Name
chromosome 15 open reading frame 48provided by HGNC
Primary source
HGNC:HGNC:29898
See related
Ensembl:ENSG00000166920 MIM:608409; AllianceGenome:HGNC:29898
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
MOCCI; NMES1; FOAP-11; MISTRAV; COXFA4L3; MIR147BHG
Summary
This gene was first identified in a study of human esophageal squamous cell carcinoma tissues. Levels of both the message and protein are reduced in carcinoma samples. In adult human tissues, this gene is expressed in the the esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified. [provided by RefSeq, Jun 2012]
Expression
Biased expression in colon (RPKM 233.7), small intestine (RPKM 89.5) and 9 other tissues See more
Orthologs
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Genomic context

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See C15orf48 in Genome Data Viewer
Location:
15q21.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (45430610..45433340)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (43238782..43241512)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45722808..45725538)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene glycine amidinotransferase Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6406 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9356 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9357 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9358 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9359 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9360 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6407 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6408 Neighboring gene AFG2 AAA ATPase homolog B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:45716799-45717298 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6409 Neighboring gene uncharacterized LOC107987223 Neighboring gene microRNA 147b Neighboring gene RNA, U7 small nuclear 5 pseudogene

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. Inflammation causes remodeling of mitochondrial cytochrome c oxidase mediated by the bifunctional gene C15orf48. Clayton SA, et al. Sci Adv, 2021 Dec 10. PMID 34878835, Free PMC Article
  2. A regulatory dendritic cell signature correlates with the clinical efficacy of allergen-specific sublingual immunotherapy. Zimmer A, et al. J Allergy Clin Immunol, 2012 Apr. PMID 22464673
  3. Discovery of novel methylation biomarkers in cervical carcinoma by global demethylation and microarray analysis. Sova P, et al. Cancer Epidemiol Biomarkers Prev, 2006 Jan. PMID 16434596
  4. Analysis of the methylation status of genes up-regulated by the demethylating agent, 5-aza-2'-deoxycytidine, in esophageal squamous cell carcinoma. Arai M, et al. Oncol Rep, 2008 Aug. PMID 18636205
  5. A novel gene, NMES1, downregulated in human esophageal squamous cell carcinoma. Zhou J, et al. Int J Cancer, 2002 Oct 1. PMID 12209954

See all (18) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity.
    Title: Coding and non-coding roles of MOCCI (C15ORF48) coordinate to regulate host inflammation and immunity.
  2. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  3. The negative correlation of NMES1 expression with esophageal oncogenesis suggests its suppressive role in tumorigenesis of the esophagus, while the precise function of NMES1 still needs further investigation.
    Title: A novel gene, NMES1, downregulated in human esophageal squamous cell carcinoma.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ22645, MGC32925

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in response to bacterium IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in mitochondrion HTP PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
part_of respiratory chain complex IV IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
normal mucosa of esophagus-specific gene 1 protein
Names
MIR147B host
cytochrome c oxidase subunit FA4 like 3
mitochondrial stress response antiviral
modulator of cytochrome C oxidase during inflammation
normal mucosa of esophagus specific 1

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_032413.4 → NP_115789.1  normal mucosa of esophagus-specific gene 1 protein

    See identical proteins and their annotated locations for NP_115789.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AF228422, BM312626
    Consensus CDS
    CCDS10124.1
    UniProtKB/Swiss-Prot
    Q9C002
    Related
    ENSP00000341610.3, ENST00000344300.3
    Conserved Domains (1) summary
    pfam06522
    Location:9 → 76
    B12D; NADH-ubiquinone reductase complex 1 MLRQ subunit

  2. NM_197955.3 → NP_922946.1  normal mucosa of esophagus-specific gene 1 protein

    See identical proteins and their annotated locations for NP_922946.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the functional protein. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AF228422, BC021173, BM312626
    Consensus CDS
    CCDS10124.1
    UniProtKB/Swiss-Prot
    Q9C002
    Related
    ENSP00000379887.2, ENST00000396650.7
    Conserved Domains (1) summary
    pfam06522
    Location:9 → 76
    B12D; NADH-ubiquinone reductase complex 1 MLRQ subunit

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_000015.10 Reference GRCh38.p14 Primary Assembly

    Range
    45430610..45433340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

    Range
    43238782..43241512
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9C002.1 GenPept UniProtKB/Swiss-Prot:Q9C002

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