| Name | MAX interacting protein 1 |
| Symbol | MXI1 |
| Aliases | MAXD2; MAX-interacting protein 1 |
| Gene Product | - MAX interacting protein 1, isoform b
- MAX interacting protein 1, isoform a
|
| Category | - Gross deletion in Prostate cancer
- Mutation in Prostate cancer
|
| UniGene | Hs.118630 |
| OMIM | 600020 |
| Locus | 4601 |
| Summary | Expression of the c-myc gene, which produces an oncogenic transcription factor, is tightly regulated in normal cells but is frequently deregulated in human cancers. The protein encoded by this gene is a trancriptional repressor thought to negatively regulate MYC function, and is therefore a potential tumor suppressor. The protein inhibits the transcriptional activity of MYC by competing for MAX, another basic helix-loop-helix protein that binds to MYC and is required for its function. Defects in this gene are frequently found in patients with prostate tumors. Two transcript variants encoding different isoforms have been identified for this gene. |
| Gene Ontology | |
| Expression | | EST (235 ESTs, 114 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| adrenal gland (2/15) |  | 5/17521 |
| bone marrow (1/263) | | 2/38555 |
| brain (19/204) | | 31/362011 |
| cervix (2/7) | | 2/28115 |
| colon (4/853) | | 4/165626 |
| ear (1/2) | | 3/12660 |
| embryo (2/19) | | 7/37976 |
| eye (4/33) | | 6/93836 |
| foreskin (1/4) | | 4/20040 |
| germ cell (3/7) | | 6/57383 |
| head and neck (6/990) | | 6/79796 |
| heart (3/22) | | 5/55494 |
| intestine (1/4) | | 1/11528 |
| kidney (3/86) | | 3/132968 |
| liver (3/38) | | 5/46472 |
| lung (9/312) | | 25/245386 |
| muscle (1/21) | | 1/71297 |
| nervous (3/475) | | 5/43438 |
| oral cavity (1/18) | | 1/44567 |
| ovary (2/144) | | 2/81880 |
| pancreas (4/33) | | 12/117255 |
| parathyroid (1/4) | | 5/19377 |
| placenta (1/342) | | 3/157762 |
| prostate (3/291) |  | 4/109871 |
| skin (1/31) | | 9/100815 |
| spleen (1/7) | | 2/9511 |
| stomach (4/312) | | 4/129930 |
| testis (3/171) | | 8/117531 |
| uncharacterized tissue (20/1773) | | 55/713325 |
| uterus (4/212) | | 8/155110 |
|
| SAGE (15634157 tags, 293 libraries) |
| Tissue ? |
Frequency ? |
Count ? |
| blood (1/1) | | 5/97046 |
| brain (19/19) | | 106/3753685 |
| cerebellum (1/1) | | 5/153840 |
| colon (8/8) | | 29/1187967 |
| eye (5/6) | | 54/1387873 |
| foreskin (1/2) | | 1/9759 |
| heart (1/1) | | 8/337428 |
| kidney (2/2) | | 5/199506 |
| liver (1/1) | | 6/133722 |
| lung (1/1) | | 7/178286 |
| mammary gland (19/19) | | 65/1709235 |
| muscle (2/2) | | 15/430934 |
| ovary (9/10) | | 25/565525 |
| pancreas (7/8) | | 24/644639 |
| prostate (12/13) | | 45/1903985 |
| skin (4/7) | | 4/62013 |
| stomach (3/3) | | 9/393967 |
| uncharacterized tissue (20/22) | | 103/1993324 |
| vascular (3/3) | | 11/491423 |
|
|
| SNP | rs2010327 (C/T:intron); rs950232 (C/T:intron); rs14401 (C/T:mrna-utr); rs716594 (A/G:intron); rs3053349 (TT/-:mrna-utr); rs1891375 (A/G:intron); rs16410 (-/TTGA:mrna-utr); rs1318388 (A/G:mrna-utr); rs928929 (C/T:intron); rs1803997 (C/A:coding-nonsyn); rs1133195 (A/G:mrna-utr); rs2795913 (C/T:intron); rs1891373 (A/G:mrna-utr); rs1967840 (C/T:intron); rs2419316 (A/G:intron); rs2068052 (A/G:intron); rs1894287 (C/G:mrna-utr); rs2855466 (A/T:intron); rs1977829 (A/G:mrna-utr); rs1342272 (A/G:mrna-utr); rs1954282 (A/G:intron); rs1418361 (A/T:intron); rs1573042 (C/T:mrna-utr); rs2096170 (T/C:intron); rs965106 (A/C:mrna-utr); rs17658 (G/A:mrna-utr); rs2050996 (C/G:intron); rs1935465 (C/T:intron); |
| Evidence | Gross deletion in Prostate cancer
Mutation in Prostate cancer
|
