Protein-coding gene in the species Homo sapiens
C15orf48 |
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Identifiers |
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Aliases | C15orf48, FOAP-11, NMES1, chromosome 15 open reading frame 48, MIR147BHG, COXFA4L3, MISTRAV, MOCCI |
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External IDs | OMIM: 608409; MGI: 3034182; HomoloGene: 41867; GeneCards: C15orf48; OMA:C15orf48 - orthologs |
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Gene location (Human) |
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| Chr. | Chromosome 15 (human)[1] |
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| Band | 15q21.1 | Start | 45,430,579 bp[1] |
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End | 45,448,761 bp[1] |
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Gene location (Mouse) |
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| Chr. | Chromosome 2 (mouse)[2] |
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| Band | 2|2 E5 | Start | 122,478,906 bp[2] |
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End | 122,483,111 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - mucosa of transverse colon
- rectum
- right testis
- left testis
- appendix
- islet of Langerhans
- duodenum
- skin of abdomen
- placenta
- skin of leg
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| Top expressed in | - blastocyst
- ileum
- granulocyte
- duodenum
- spermatocyte
- jejunum
- testicle
- spermatid
- colon
- stomach
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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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 |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | | |
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RefSeq (protein) | |
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NP_115789 NP_922946 NP_115789.1 NP_922946.1 |
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Location (UCSC) | Chr 15: 45.43 – 45.45 Mb | Chr 2: 122.48 – 122.48 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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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
- ^ a b c GRCh38: Ensembl release 89: ENSG00000166920 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000033213 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.