| Name | membrane metallo-endopeptidase (neutral endopeptidase, enkephalinase, CALLA, CD10) |
| Symbol | MME |
| Aliases | CD10; CALLA; NEP; neprilysin |
| Gene Product | - membrane metallo-endopeptidase
|
| Category | - Methylation in Prostate cancer
|
| UniGene | Hs.1298 |
| OMIM | 120520 |
| Locus | 4311 |
| Summary | Common acute lymphocytic leukemia antigen is an important cell surface marker in the diagnosis of human acute lymphocytic leukemia (ALL). It is present on leukemic cells of pre-B phenotype, which represent 85% of cases of ALL. CALLA is not restricted to leukemic cells, however, and is found on a variety of normal tissues. CALLA is a glycoprotein that is particularly abundant in kidney, where it is present on the brush border of proximal tubules and on glomerular epithelium. The amino acid sequence deduced from the cDNA sequence is identical to that of human membrane-associated neutral endopeptidase, also known as enkephalinase. NEP cleaves peptides at the amino side of hydrophobic residues and inactivates several peptide hormones including glucagon, enkephalins, substance P, neurotensin, oxytocin, and bradykinin. The CALLA gene, which encodes a 100-kD type II transmembrane glycoprotein, exists in a single copy of greater than 45 kb which is not rearranged in malignancies expressing cell surface CALLA. The CALLA gene spans more than 80 kb and is composed of 24 exons. The 5' untranslated region of CALLA is alternatively spliced, resulting in four separate mRNA transcripts. The coding region initiates in exon 3 and is not affected by alternative splicing. Exons 1, 1bis, 2a and 2b are each spliced to exon 3 to form the four transcript variants. |
| Gene Ontology | |
| Expression | | EST (262 ESTs, 78 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| adipose (1/10) |  | 1/2445 |
| adrenal gland (2/15) | | 8/17521 |
| b cells (1/1) | | 2/16734 |
| bone (2/13) | | 4/26211 |
| brain (1/204) | | 1/362011 |
| colon (3/853) | | 9/165626 |
| ear (1/2) | | 3/12660 |
| embryo (1/19) | | 2/37976 |
| germ cell (1/7) | | 1/57383 |
| head and neck (1/990) | | 2/79796 |
| heart (1/22) | | 10/55494 |
| intestine (1/4) | | 1/11528 |
| kidney (7/86) | | 69/132968 |
| liver (1/38) | | 5/46472 |
| lung (3/312) | | 5/245386 |
| muscle (3/21) | | 5/71297 |
| oral cavity (1/18) | | 15/44567 |
| ovary (2/144) | | 2/81880 |
| placenta (6/342) | | 16/157762 |
| prostate (4/291) |  | 7/109871 |
| skin (3/31) | | 7/100815 |
| testis (2/171) | | 3/117531 |
| uncharacterized tissue (26/1773) | | 75/713325 |
| uterus (4/212) | | 9/155110 |
|
| SAGE (15102800 tags, 281 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| blood (1/1) | | 2/97046 |
| brain (19/19) | | 80/3198337 |
| cerebellum (1/1) | | 2/102560 |
| colon (5/8) | | 17/632044 |
| eye (4/6) | | 23/1022566 |
| foreskin (2/2) | | 8/57768 |
| heart (1/1) | | 6/253071 |
| kidney (2/2) | | 5/138091 |
| liver (1/1) | | 4/200583 |
| lung (1/1) | | 10/713144 |
| mammary gland (15/19) | | 33/1112752 |
| muscle (2/2) | | 7/161603 |
| ovary (7/10) | | 26/591755 |
| pancreas (8/8) | | 19/560398 |
| prostate (10/13) | | 130/3389866 |
| skin (3/7) | | 5/89066 |
| stomach (2/3) | | 6/206898 |
| uncharacterized tissue (17/22) | | 70/2306932 |
| vascular (2/3) | | 5/268320 |
|
|
| SNP | rs1485239 (G/T:intron); rs1299661 (A/G:intron); rs2016846 (A/G:intron); rs1836912 (A/G:intron); rs1807003 (C/G:intron); rs1062487 (G/C:coding-nonsyn); rs2196521 (C/T:intron); rs12765 (A/G:mrna-utr); rs1370031 (A/G:intron); rs701109 (A/G:mrna-utr); rs1126608 (C/G:coding-nonsyn); rs2304504 (C/T:intron); rs2011753 (A/G:intron); rs968628 (C/T:intron); rs989692 (C/T:mrna-utr); rs6665 (G/T:mrna-utr); rs1025192 (C/T:intron); rs1385479 (A/G:intron); rs1816558 (C/T:intron); rs1812652 (C/T:intron); rs2007329 (A/G:intron); rs1280064 (T/G:intron); rs12176 (T/A:mrna-utr); rs1042290 (C/G:coding-nonsyn); rs1042301 (A/G:mrna-utr); rs2164555 (A/G:intron); rs1803235 (A/T:mrna-utr); rs2118073 (G/A:mrna-utr); rs1436630 (A/G:intron); |
| Evidence | Methylation in Prostate cancer
|
