Entry - *608409 - CHROMOSOME 15 OPEN READING FRAME 48; C15ORF48 - OMIM
 
* 608409

CHROMOSOME 15 OPEN READING FRAME 48; C15ORF48


Alternative titles; symbols

NORMAL MUCOSA OF ESOPHAGUS-SPECIFIC GENE 1; NMES1


HGNC Approved Gene Symbol: C15orf48

Cytogenetic location: 15q21.1   Genomic coordinates (GRCh38) : 15:45,430,610-45,433,340 (from NCBI)


TEXT

Cloning and Expression

Using a PCR-based subtractive hybridization method to identify genes downregulated in esophageal cancers compared with adjacent normal mucosa, followed by 5-prime RACE of a normal adult esophagus cDNA library, Zhou et al. (2002) cloned NMES1. The deduced 83-amino acid protein contains sites for O-glycosylation and N-myristoylation. NMES1 shares 31 to 34% amino acid identity with the mouse, bovine, and human NADH-ubiquinone oxidoreductase MLRQ subunit (603833). Northern blot analysis detected a transcript of 0.9 kb in esophagus, stomach, small intestine, colon, and placenta. Very weak expression was detected in lung, and no expression was detected in several other tissues. Immunohistochemical staining revealed expression localized to nuclei of the basal cell layer of normal esophagus. In situ hybridization of embryonic mice revealed expression in the ossification center and spinal cord 8 days postcoitum. Expression extended throughout bone tissue and vertebrae from this stage until birth. Other sites of abundant expression included the developing brain, intestine, and stomach. Weak expression was detected in the developing mouse lung.


Gene Function

By RT-PCR, Zhou et al. (2002) found that the expression of NMES1 was reduced in 16 of 20 esophageal cancers compared with matched normal mucosa, and in 9 of 12 colon cancer samples compared with matched normal tissue.


Mapping

By radiation hybrid analysis, Zhou et al. (2002) mapped the NMES1 gene to chromosome 15q21.1.


REFERENCES

  1. Zhou, J., Wang, H., Lu, A., Hu, G., Luo, A., Ding, F., Zhang, J., Wang, X., Wu, M., Liu, Z. A novel gene, NMES1, downregulated in human esophageal squamous cell carcinoma. Int. J. Cancer 101: 311-316, 2002. [PubMed: 12209954, related citations] [Full Text]


Creation Date:
Patricia A. Hartz : 1/20/2004
mgross : 09/12/2019
mgross : 01/20/2004

* 608409

CHROMOSOME 15 OPEN READING FRAME 48; C15ORF48


Alternative titles; symbols

NORMAL MUCOSA OF ESOPHAGUS-SPECIFIC GENE 1; NMES1


HGNC Approved Gene Symbol: C15orf48

Cytogenetic location: 15q21.1   Genomic coordinates (GRCh38) : 15:45,430,610-45,433,340 (from NCBI)


TEXT

Cloning and Expression

Using a PCR-based subtractive hybridization method to identify genes downregulated in esophageal cancers compared with adjacent normal mucosa, followed by 5-prime RACE of a normal adult esophagus cDNA library, Zhou et al. (2002) cloned NMES1. The deduced 83-amino acid protein contains sites for O-glycosylation and N-myristoylation. NMES1 shares 31 to 34% amino acid identity with the mouse, bovine, and human NADH-ubiquinone oxidoreductase MLRQ subunit (603833). Northern blot analysis detected a transcript of 0.9 kb in esophagus, stomach, small intestine, colon, and placenta. Very weak expression was detected in lung, and no expression was detected in several other tissues. Immunohistochemical staining revealed expression localized to nuclei of the basal cell layer of normal esophagus. In situ hybridization of embryonic mice revealed expression in the ossification center and spinal cord 8 days postcoitum. Expression extended throughout bone tissue and vertebrae from this stage until birth. Other sites of abundant expression included the developing brain, intestine, and stomach. Weak expression was detected in the developing mouse lung.


Gene Function

By RT-PCR, Zhou et al. (2002) found that the expression of NMES1 was reduced in 16 of 20 esophageal cancers compared with matched normal mucosa, and in 9 of 12 colon cancer samples compared with matched normal tissue.


Mapping

By radiation hybrid analysis, Zhou et al. (2002) mapped the NMES1 gene to chromosome 15q21.1.


REFERENCES

  1. Zhou, J., Wang, H., Lu, A., Hu, G., Luo, A., Ding, F., Zhang, J., Wang, X., Wu, M., Liu, Z. A novel gene, NMES1, downregulated in human esophageal squamous cell carcinoma. Int. J. Cancer 101: 311-316, 2002. [PubMed: 12209954] [Full Text: https://doi.org/10.1002/ijc.10600]


Creation Date:
Patricia A. Hartz : 1/20/2004

Edit History:
mgross : 09/12/2019
mgross : 01/20/2004