Details for: C15orf48

Gene ID: 84419

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: C15orf48

Ensembl ID: ENSG00000166920

Description: chromosome 15 open reading frame 48

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • transit amplifying cell of colon CL0009011
    CSI 60.52
    rCSI 71.08%
    PRS 97.41
  • colon epithelial cell CL0011108
    CSI 44.85
    rCSI 46.98%
    PRS 95.84
  • pancreatic acinar cell CL0002064
    CSI 43.17
    rCSI 57.38%
    PRS 97.73
  • M cell of gut CL0000682
    CSI 40.21
    rCSI 42.72%
    PRS 97.22
  • elicited macrophage CL0000861
    CSI 38.07
    rCSI 34.95%
    PRS 98.67
  • CD1c-positive myeloid dendritic cell CL0002399
    CSI 36.13
    rCSI 43.65%
    PRS 98.65
  • Langerhans cell CL0000453
    CSI 32.49
    rCSI 49.63%
    PRS 98.9
  • stem cell CL0000034
    CSI 29.79
    rCSI 28.73%
    PRS 95.69
  • tracheal goblet cell CL1000329
    CSI 28.86
    rCSI 63%
    PRS 97.31
  • colon goblet cell CL0009039
    CSI 27.26
    rCSI 64.8%
    PRS 97.18
  • enterocyte CL0000584
    CSI 27.17
    rCSI 43.82%
    PRS 94.63
  • nasal mucosa goblet cell CL0002480
    CSI 27.09
    rCSI 31.41%
    PRS 96.33
  • transit amplifying cell CL0009010
    CSI 26.18
    rCSI 40.04%
    PRS 97.96
  • colonocyte CL1000347
    CSI 25.73
    rCSI 36.88%
    PRS 95.69
  • squamous epithelial cell CL0000076
    CSI 23.16
    rCSI 54.97%
    PRS 93.62
  • foveolar cell of stomach CL0002179
    CSI 22.39
    rCSI 47.66%
    PRS 97.27
  • goblet cell CL0000160
    CSI 21.51
    rCSI 20.32%
    PRS 95.69
  • duct epithelial cell CL0000068
    CSI 21.42
    rCSI 31.33%
    PRS 98.3
  • IgA plasma cell CL0000987
    CSI 19.34
    rCSI 19.8%
    PRS 95.71
  • extravillous trophoblast CL0008036
    CSI 18.33
    rCSI 22.68%
    PRS 95.89
  • epithelial cell of lower respiratory tract CL0002632
    CSI 16.62
    rCSI 12.88%
    PRS 98.23
  • alveolar macrophage CL0000583
    CSI 15.97
    rCSI 26.31%
    PRS 97.39
  • skin fibroblast CL0002620
    CSI 14.83
    rCSI 12.78%
    PRS 97.06
  • enterocyte of epithelium of large intestine CL0002071
    CSI 14.11
    rCSI 74.1%
    PRS 97.42
  • enteroendocrine cell of colon CL0009042
    CSI 13.7
    rCSI 64.25%
    PRS 96.56
  • intestine goblet cell CL0019031
    CSI 13.64
    rCSI 12.11%
    PRS 95.75
  • type L enteroendocrine cell CL0002279
    CSI 13.13
    rCSI 24.64%
    PRS 96.57
  • CD14-positive monocyte CL0001054
    CSI 12.93
    rCSI 16.11%
    PRS 99.04
  • pancreatic A cell CL0000171
    CSI 12.86
    rCSI 13.47%
    PRS 97.37
  • secretory cell CL0000151
    CSI 12.15
    rCSI 12.68%
    PRS 96.53
  • dendritic cell CL0000451
    CSI 11.78
    rCSI 14.51%
    PRS 96.09
  • BEST4+ enteroycte CL4030026
    CSI 11.74
    rCSI 14.6%
    PRS 96.27
  • pancreatic D cell CL0000173
    CSI 11.42
    rCSI 11.23%
    PRS 97.21
  • lung ciliated cell CL1000271
    CSI 10.5
    rCSI 12.14%
    PRS 94.01
  • innate lymphoid cell CL0001065
    CSI 10.49
    rCSI 21.65%
    PRS 91.82
  • brush cell CL0002204
    CSI 10.36
    rCSI 20.51%
    PRS 97.04
  • alternatively activated macrophage CL0000890
    CSI 10.32
    rCSI 12.98%
    PRS 99.13
  • mononuclear phagocyte CL0000113
    CSI 10.29
    rCSI 22.65%
    PRS 98.09
  • lung macrophage CL1001603
    CSI 10.1
    rCSI 22.55%
    PRS 98.81
  • enteroendocrine cell CL0000164
    CSI 9.99
    rCSI 13.65%
    PRS 95.23
  • intestinal crypt stem cell of colon CL0009043
    CSI 9.52
    rCSI 71.49%
    PRS 98.5
  • fallopian tube secretory epithelial cell CL4030006
    CSI 9.52
    rCSI 9.16%
    PRS 96.13
  • multi-ciliated epithelial cell CL0005012
    CSI 8.9
    rCSI 8.89%
    PRS 93.85
  • paneth cell CL0000510
    CSI 8.86
    rCSI 13.08%
    PRS 98.37
  • intestinal tuft cell CL0019032
    CSI 8.74
    rCSI 13.36%
    PRS 96.85
  • P/D1 enteroendocrine cell CL0002268
    CSI 8.46
    rCSI 46.04%
    PRS 96.69
  • myeloid leukocyte CL0000766
    CSI 8.3
    rCSI 7.66%
    PRS 97.85
  • respiratory suprabasal cell CL4033048
    CSI 8.08
    rCSI 10.36%
    PRS 97.59
  • club cell CL0000158
    CSI 8.03
    rCSI 11.77%
    PRS 95.45
  • ciliated cell CL0000064
    CSI 7.92
    rCSI 12.83%
    PRS 92.97
  • paneth cell of colon CL0009009
    CSI 7.39
    rCSI 72.53%
    PRS 97.52
  • CD14-positive, CD16-positive monocyte CL0002397
    CSI 7.35
    rCSI 9.63%
    PRS 99.1
  • monocyte CL0000576
    CSI 7.07
    rCSI 12.78%
    PRS 97.57
  • placental villous trophoblast CL2000060
    CSI 6.99
    rCSI 10.79%
    PRS 95.93
  • enteroendocrine cell of small intestine CL0009006
    CSI 6.83
    rCSI 15.04%
    PRS 97.06
  • type EC enteroendocrine cell CL0000577
    CSI 6.75
    rCSI 23.96%
    PRS 96.54
  • transit amplifying cell of small intestine CL0009012
    CSI 6.68
    rCSI 29.32%
    PRS 97.8
  • epithelial cell of lung CL0000082
    CSI 6.34
    rCSI 5.26%
    PRS 97.81
  • mucous neck cell CL0000651
    CSI 6.31
    rCSI 9.09%
    PRS 97.49
  • tuft cell of colon CL0009041
    CSI 6.3
    rCSI 14.68%
    PRS 96.78
  • inflammatory macrophage CL0000863
    CSI 6.12
    rCSI 10.45%
    PRS 99.59
  • lung interstitial macrophage CL4033043
    CSI 5.9
    rCSI 13.24%
    PRS 99.39
  • conjunctival epithelial cell CL1000432
    CSI 5.62
    rCSI 8.59%
    PRS 96.26
  • type B pancreatic cell CL0000169
    CSI 5.61
    rCSI 12.43%
    PRS 96.71
  • luminal epithelial cell of mammary gland CL0002326
    CSI 5.36
    rCSI 9.74%
    PRS 98.37
  • pancreatic PP cell CL0002275
    CSI 5.29
    rCSI 21.07%
    PRS 97.12
  • myeloid dendritic cell, human CL0001057
    CSI 5.05
    rCSI 28.42%
    PRS 99.18
  • intermediate monocyte CL0002393
    CSI 4.82
    rCSI 7.27%
    PRS 98.72
  • neutrophil CL0000775
    CSI 4.44
    rCSI 24.84%
    PRS 94.47
  • CD14-positive, CD16-negative classical monocyte CL0002057
    CSI 4.41
    rCSI 26.69%
    PRS 98.78
  • acinar cell CL0000622
    CSI 4.22
    rCSI 6.19%
    PRS 98.44
  • retina horizontal cell CL0000745
    CSI 4.07
    rCSI 6.21%
    PRS 95.27
  • bronchial goblet cell CL1000312
    CSI 4.03
    rCSI 16.09%
    PRS 98.1
  • granulocyte CL0000094
    CSI 3.72
    rCSI 5.68%
    PRS 98.34
  • glial cell CL0000125
    CSI 3.54
    rCSI 13.46%
    PRS 93.48
  • deuterosomal cell CL4033044
    CSI 3.1
    rCSI 10.49%
    PRS 92.82
  • pancreatic ductal cell CL0002079
    CSI 3.1
    rCSI 6.03%
    PRS 97.06
  • respiratory hillock cell CL4030023
    CSI 3
    rCSI 5.36%
    PRS 98.09
  • dendritic cell, human CL0001056
    CSI 2.75
    rCSI 4.22%
    PRS 98.91
  • intestinal epithelial cell CL0002563
    CSI 2.44
    rCSI 2.55%
    PRS 95.81
  • respiratory basal cell CL0002633
    CSI 2.23
    rCSI 2.31%
    PRS 97.56
  • small intestine goblet cell CL1000495
    CSI 2.12
    rCSI 4.65%
    PRS 97.36
  • Hofbauer cell CL3000001
    CSI 1.97
    rCSI 3.71%
    PRS 98.63
  • syncytiotrophoblast cell CL0000525
    CSI 1.93
    rCSI 5.56%
    PRS 96.32
  • myeloid dendritic cell CL0000782
    CSI 1.8
    rCSI 2.6%
    PRS 99.42
  • tracheobronchial serous cell CL0019001
    CSI 1.78
    rCSI 7.71%
    PRS 97.55
  • epithelial cell of urethra CL1000296
    CSI 1.78
    rCSI 44.78%
    PRS 97.22
  • glandular epithelial cell CL0000150
    CSI 1.76
    rCSI 4.62%
    PRS 99.08
  • mammary gland epithelial cell CL0002327
    CSI 1.74
    rCSI 6.09%
    PRS 98.41
  • pancreatic epsilon cell CL0005019
    CSI 1.54
    rCSI 7.16%
    PRS 97.26
  • intestinal crypt stem cell of small intestine CL0009017
    CSI 1.5
    rCSI 4.05%
    PRS 97.61
  • epithelial cell of esophagus CL0002252
    CSI 1.12
    rCSI 11.04%
    PRS 94.55
  • enterocyte of epithelium of small intestine CL1000334
    CSI 1.09
    rCSI 16.85%
    PRS 96.99
  • metallothionein-positive alveolar macrophage CL4033042
    CSI 1.01
    rCSI 10.93%
    PRS 98.95
  • paneth cell of epithelium of small intestine CL1000343
    CSI 0.99
    rCSI 2.78%
    PRS 97.66
  • colon macrophage CL0009038
    CSI 0.93
    rCSI 4.3%
    PRS 99.3
  • respiratory goblet cell CL0002370
    CSI 0.77
    rCSI 8.33%
    PRS 97.98

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.

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Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary [C15orf48](/details-gene/84419) is a protein-coding gene located on chromosome 15q21.1, also known as Normal Mucosa of Esophagus-specific gene 1 (NMES1). Functional annotations suggest its protein product is involved in the response to bacteria and protein binding, with localization to the mitochondrion, nucleus, and respiratory chain complex IV. Expression data indicates that **`Overall`**, [C15orf48](/details-gene/84419) is most significantly expressed in epithelial cells of the gastrointestinal tract, particularly in highly proliferative cells such as [transit amplifying cell of colon](/details-cell/CL0009011) and secretory cells like [pancreatic acinar cell](/details-cell/CL0002064). Notably, research has indicated that its expression is downregulated in human esophageal squamous cell carcinoma, suggesting a potential role as a tumor suppressor [Link](https://doi.org/10.1002/ijc.10600). ## Cellular Roles and Expression Landscape The expression profile of [C15orf48](/details-gene/84419) firmly establishes it as a gene associated with mucosal and glandular epithelia, particularly within the digestive system. **`Overall`**, its highest significance is observed in [transit amplifying cell of colon](/details-cell/CL0009011) (CSI: 60.52), followed by a broad range of related cell types including [colon epithelial cell](/details-cell/CL0011108), [M cell of gut](/details-cell/CL0000682), and [colon goblet cell](/details-cell/CL0009039). This strong and specific expression pattern within the colon suggests a crucial role in the maintenance, renewal, and function of the intestinal lining. Beyond the colon, high significance is also noted in other secretory and barrier tissues, such as [pancreatic acinar cell](/details-cell/CL0002064), [tracheal goblet cell](/details-cell/CL1000329), and [squamous epithelial cell](/details-cell/CL0000076). Its presence in progenitor populations like [stem cell](/details-cell/CL0000034) and [transit amplifying cell](/details-cell/CL0009010) is consistent with a role in tissue homeostasis and differentiation. Interestingly, [C15orf48](/details-gene/84419) is also significantly expressed in several professional antigen-presenting cells, including [elicited macrophage](/details-cell/CL0000861), [CD1c-positive myeloid dendritic cell](/details-cell/CL0002399), and [Langerhans cell](/details-cell/CL0000453). This expression pattern suggests a dual role for the gene, contributing not only to epithelial barrier function but also to the innate immune surveillance within these same tissues. ## Pathways and Molecular Function The functional annotations of [C15orf48](/details-gene/84419) align well with its cellular expression landscape. Its association with the biological process 'Response to bacterium' ([GO:0009617](https://www.ebi.ac.uk/QuickGO/term/GO:0009617)) is highly relevant given its expression in gut epithelial cells and myeloid cells, which are constantly exposed to microbial stimuli. This suggests [C15orf48](/details-gene/84419) may be involved in host-microbe interactions, potentially as part of an antimicrobial defense or signaling pathway. The localization of the protein to the 'Mitochondrion' ([GO:0005739](https://www.ebi.ac.uk/QuickGO/term/GO:0005739)) and specifically to 'Respiratory chain complex iv' ([GO:0045277](https://www.ebi.ac.uk/QuickGO/term/GO:0045277)) points towards a role in cellular metabolism and energy production. This is consistent with its high expression in metabolically active cells, such as rapidly dividing [transit amplifying cells](/details-cell/CL0009010) and protein-secreting [pancreatic acinar cells](/details-cell/CL0002064). Disruption of mitochondrial function is a known factor in carcinogenesis, which may connect this molecular function to its observed downregulation in esophageal cancer. The general function of 'Protein binding' ([GO:0005515](https://www.ebi.ac.uk/QuickGO/term/GO:0005515)) and localization to the 'Nucleus' ([GO:0005634](https://www.ebi.ac.uk/QuickGO/term/GO:0005634)) suggest it may also act as part of a larger complex involved in transcriptional regulation or signal transduction. ## Research Directions The available data points to two primary areas for future investigation: its role in epithelial cancer and its function in innate immunity at mucosal surfaces. The report of its downregulation in esophageal squamous cell carcinoma is particularly compelling [Link](https://doi.org/10.1002/ijc.10600). Based on the synthesis of expression and functional data, several testable hypotheses can be proposed: 1. **[C15orf48](/details-gene/84419) functions as a tumor suppressor in gastrointestinal epithelia.** Its loss may promote malignant transformation by disrupting mitochondrial respiration and metabolic homeostasis, thereby enabling the uncontrolled proliferation characteristic of cancer cells. 2. **[C15orf48](/details-gene/84419) is a component of the innate immune defense system in mucosal cells.** It may participate in pattern recognition receptor signaling or mediate downstream anti-bacterial effector functions in response to pathogens, a role consistent with its expression in both epithelial and myeloid cells at barrier sites. A key experiment to test the tumor suppressor hypothesis would be to use CRISPR-Cas9 to knock out [C15orf48](/details-gene/84419) in non-transformed human colon and esophageal epithelial cell lines. The resulting knockout cells should be evaluated for cancer-associated phenotypes, including increased proliferation rates, anchorage-independent growth in soft agar, and altered cellular metabolism using a Seahorse XF Analyzer to directly measure mitochondrial oxygen consumption rates. Given that [C15orf48](/details-gene/84419) appears to be downregulated in cancer, the therapeutic strategy would involve its activation or re-expression rather than inhibition. This makes it a challenging direct drug target. However, it holds significant potential as a prognostic biomarker, where low expression levels in tumor biopsies could correlate with more aggressive disease or poorer patient outcomes. Further studies are warranted to validate its biomarker potential across different epithelial cancers.

Genular Protein ID: 2896169982

Symbol: NMES1_HUMAN

Name: Normal mucosa of esophagus-specific gene 1 protein

UniProtKB Accession Codes:

Q9C002

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 3 Ensembl 2 ExpressionAtlas 1 GO 3 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 RefSeq 2 SMR 1 STRING 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 12209954

Title: A novel gene, NMES1, downregulated in human esophageal squamous cell carcinoma.

PubMed ID: 12209954

DOI: 10.1002/ijc.10600

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 83
  • Mass: 9617
  • Checksum: 21884FE8A009C039
  • Sequence:
    • MSFFQLLMKR KELIPLVVFM TVAAGGASSF AVYSLWKTDV ILDRKKNPEP WETVDPTVPQ 
KLITINQQWK PIEELQNVQR VTK