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

Gene ID: 84419, updated on 1-Jun-2020

Summary

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
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
NMES1; FOAP-11; 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

Genomic context

See C15orf48 in Genome Data Viewer
Location:
15q21.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (45430610..45433340)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (45722727..45725647)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene glycine amidinotransferase Neighboring gene spermatogenesis associated 5 like 1 Neighboring gene uncharacterized LOC107987223 Neighboring gene microRNA 147b Neighboring gene uncharacterized LOC105376714 Neighboring gene RNA, U7 small nuclear 5 pseudogene

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

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ22645, MGC32925

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to cytochrome-c oxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
electron transport chain IEA
Inferred from Electronic Annotation
more info
 
proton transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
response to bacterium IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
mitochondrial respiratory chain complex IV IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
normal mucosa of esophagus-specific gene 1 protein
Names
MIR147B host
cytochrome c oxidase subunit FA4 like 3
normal mucosa of esophagus specific 1

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_032413.4NP_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
    UniProtKB/TrEMBL
    A0A024R5U4
    Related
    ENSP00000341610.3, ENST00000344300.3
    Conserved Domains (1) summary
    pfam06522
    Location:976
    B12D; NADH-ubiquinone reductase complex 1 MLRQ subunit
  2. NM_197955.3NP_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
    UniProtKB/TrEMBL
    A0A024R5U4
    Related
    ENSP00000379887.2, ENST00000396650.6
    Conserved Domains (1) summary
    pfam06522
    Location:976
    B12D; NADH-ubiquinone reductase complex 1 MLRQ subunit

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

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