C15orf48

Protein-coding gene in the species Homo sapiens
C15orf48
Identifiers
AliasesC15orf48, FOAP-11, NMES1, chromosome 15 open reading frame 48, MIR147BHG, COXFA4L3, MISTRAV, MOCCI
External IDsOMIM: 608409; MGI: 3034182; HomoloGene: 41867; GeneCards: C15orf48; OMA:C15orf48 - orthologs
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for C15orf48
Genomic location for C15orf48
Band15q21.1Start45,430,579 bp[1]
End45,448,761 bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for C15orf48
Genomic location for C15orf48
Band2|2 E5Start122,478,906 bp[2]
End122,483,111 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • mucosa of transverse colon

  • rectum

  • right testis

  • left testis

  • appendix

  • islet of Langerhans

  • duodenum

  • skin of abdomen

  • placenta

  • skin of leg
Top expressed in
  • blastocyst

  • ileum

  • granulocyte

  • duodenum

  • spermatocyte

  • jejunum

  • testicle

  • spermatid

  • colon

  • stomach
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • cytochrome-c oxidase activity
  • protein binding
Cellular component
  • nucleus
  • mitochondrial respiratory chain complex IV
  • membrane
  • integral component of membrane
Biological process
  • proton transmembrane transport
  • electron transport chain
  • response to bacterium
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

84419

433470

Ensembl

ENSG00000166920

ENSMUSG00000033213

UniProt

Q9C002

Q810Q5

RefSeq (mRNA)

NM_197955
NM_032413

NM_001004174

RefSeq (protein)

NP_115789
NP_922946
NP_115789.1
NP_922946.1

NP_001004174

Location (UCSC)Chr 15: 45.43 – 45.45 MbChr 2: 122.48 – 122.48 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Chromosome 15 open reading frame 48 is a protein that in humans is encoded by the C15orf48 gene. [5]

Function

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 esophagus, stomach, small intestine, colon and placenta. Alternatively spliced transcript variants that encode the same protein have been identified.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000166920 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033213 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Chromosome 15 open reading frame 48". Retrieved 2017-10-09.

Further reading

  • Zhou J, Wang H, Lu A, Hu G, Luo A, Ding F, Zhang J, Wang X, Wu M, Liu Z (2002). "A novel gene, NMES1, downregulated in human esophageal squamous cell carcinoma". Int. J. Cancer. 101 (4): 311–6. doi:10.1002/ijc.10600. PMID 12209954.


  • v
  • t
  • e

This article incorporates text from the United States National Library of Medicine, which is in the public domain.