| Tbio | Melanoma-associated antigen E1 |
May enhance ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex.
This gene encodes an alpha-dystrobrevin-associated MAGE (melanoma-associated antigen) protein, which is a member of the MAGE family. The protein contains a nuclear localization signal in the N-terminus, 30 12-amino acid repeats beginning at nt 60 with the consensus sequence ASEGPSTSVLPT, and two MAGE domains in the C-terminus. It may play a signaling role in brain, muscle, and peripheral nerve. This gene is located on X chromosome in a region containing loci linked to mental retardation. [provided by RefSeq, Mar 2010]
This gene encodes an alpha-dystrobrevin-associated MAGE (melanoma-associated antigen) protein, which is a member of the MAGE family. The protein contains a nuclear localization signal in the N-terminus, 30 12-amino acid repeats beginning at nt 60 with the consensus sequence ASEGPSTSVLPT, and two MAGE domains in the C-terminus. It may play a signaling role in brain, muscle, and peripheral nerve. This gene is located on X chromosome in a region containing loci linked to mental retardation. [provided by RefSeq, Mar 2010]
Comments
| Disease | Target Count | P-value |
|---|---|---|
| glioblastoma multiforme | 347 | 2.1e-26 |
| adult high grade glioma | 2148 | 6.7e-08 |
| atypical teratoid / rhabdoid tumor | 4369 | 9.6e-08 |
| pilocytic astrocytoma | 3086 | 2.5e-06 |
| medulloblastoma, large-cell | 6234 | 1.1e-05 |
| group 3 medulloblastoma | 2254 | 2.9e-05 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2988 | 9.4e-04 |
| primitive neuroectodermal tumor | 3031 | 1.0e-03 |
| intraductal papillary-mucinous adenoma (IPMA) | 2956 | 2.0e-03 |
| astrocytic glioma | 2241 | 3.6e-03 |
| Pick disease | 1893 | 5.1e-03 |
| ependymoma | 2514 | 8.2e-03 |
| oligodendroglioma | 2849 | 1.8e-02 |
| subependymal giant cell astrocytoma | 2287 | 2.7e-02 |
| Disease | log2 FC | p |
|---|---|---|
| astrocytic glioma | -2.200 | 3.6e-03 |
| ependymoma | -3.000 | 8.2e-03 |
| oligodendroglioma | -1.700 | 1.8e-02 |
| glioblastoma multiforme | -2.100 | 2.1e-26 |
| group 3 medulloblastoma | -2.600 | 2.9e-05 |
| atypical teratoid / rhabdoid tumor | -1.600 | 9.6e-08 |
| medulloblastoma, large-cell | -2.200 | 1.1e-05 |
| primitive neuroectodermal tumor | -1.300 | 1.0e-03 |
| intraductal papillary-mucinous adenoma (... | -1.800 | 2.0e-03 |
| intraductal papillary-mucinous carcinoma... | -2.200 | 9.4e-04 |
| adult high grade glioma | -2.600 | 6.7e-08 |
| pilocytic astrocytoma | -1.600 | 2.5e-06 |
| subependymal giant cell astrocytoma | -2.526 | 2.7e-02 |
| Pick disease | -1.100 | 5.1e-03 |
| PMID | Text | |
|---|---|---|
| 23268337 | Data suggest that lipid homeostasis may be altered in carriers of selected HCA1 missense variants. | |
| 22632162 | Both HIV-1 Tat 47-59 and FITC-labeled Tat 47-59 peptides downregulate gene expression of melanoma antigen family E, 1 (MAGEE1) in U-937 macrophages | |
| 20862285 | Observational study of gene-disease association. (HuGE Navigator) | |
| 14623885 | a new dystrobrevin-associated protein that may play a signaling role in brain, muscle, and peripheral nerve |
MSLVSQNSRRRRRRVAKATAHNSSWGEMQAPNAPGLPADVPGSDVPQGPSDSQILQGLCASEGPSTSVLP 1 - 70 TSAEGPSTFVPPTISEASSASGQPTISEGPGTSVLPTPSEGLSTSGPPTISKGLCTSVTLAASEGRNTSR 71 - 140 PPTSSEEPSTSVPPTASEVPSTSLPPTPGEGTSTSVPPTAYEGPSTSVVPTPDEGPSTSVLPTPGEGPGT 141 - 210 SVPLAATEGLSTSVQATPDEGPSTSVPPTATEGLSTPVPPTRDEGPSTSVPATPGEGPSTSVLPAASDGQ 211 - 280 SISLVPTRGKGSSTSVPPTATEGLSTSVQPTAGEGSSTSVPPTPGGGLSTSVPPTATEELSTSVPPTPGE 281 - 350 GPSTSVLPIPGEGLSTSVPPTASDGSDTSVPPTPGEGASTLVQPTAPDGPGSSVLPNPGEGPSTLFSSSA 351 - 420 SVDRNPSKCSLVLPSPRVTKASVDSDSEGPKGAEGPIEFEVLRDCESPNSISIMGLNTSRVAITLKPQDP 421 - 490 MEQNVAELLQFLLVKDQSKYPIRESEMREYIVKEYRNQFPEILRRAAAHLECIFRFELRELDPEAHTYIL 491 - 560 LNKLGPVPFEGLEESPNGPKMGLLMMILGQIFLNGNQAKEAEIWEMLWRMGVQRERRLSIFGNPKRLLSV 561 - 630 EFVWQRYLDYRPVTDCKPVEYEFFWGPRSHLETTKMKILKFMAKIYNKDPMDWPEKYNEALEEDAARAFA 631 - 700 EGWQALPHFRRPFFEEAAAEVPSPDSEVSSYSSKYAPHSWPESRLESKARKLVQLFLLMDSTKLPIPKKG 701 - 770 ILYYIGRECSKVFPDLLNRAARTLNHVYGTELVVLDPRNHSYTLYNRREMEETEEIVDSPNRPGNNFLMQ 771 - 840 VLSFIFIMGNHARESAVWAFLRGLGVQAGRKHVITCRYLSQRYIDSLRVPDSDPVQYEFVWGPRARLETS 841 - 910 KMKALRYVARIHRKEPQDWPQQYREAMEDEANRADVGHRQIFVHNFR 911 - 957 //
| PMID | Year | Title | |
|---|---|---|---|
| 23268337 | 2013 | Naturally occurring HCA1 missense mutations result in loss of function: potential impact on lipid deposition. | |
| 23092983 | 2012 | Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. | |
| 20864041 | 2010 | MAGE-RING protein complexes comprise a family of E3 ubiquitin ligases. | |
| 20862285 | 2010 | Frequent MAGE mutations in human melanoma. | |
| 18029348 | 2008 | Toward a confocal subcellular atlas of the human proteome. | |
| 16959974 | 2006 | The consensus coding sequences of human breast and colorectal cancers. | |
| 16344560 | 2006 | Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. | |
| 15772651 | 2005 | The DNA sequence of the human X chromosome. | |
| 15489334 | 2004 | The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). | |
| 14702039 | 2004 | Complete sequencing and characterization of 21,243 full-length human cDNAs. | |
| 14623885 | 2004 | DAMAGE, a novel alpha-dystrobrevin-associated MAGE protein in dystrophin complexes. | |
| 12477932 | 2002 | Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. | |
| 10997877 | 2000 | Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |
