Property Summary

NCBI Gene PubMed Count 9
PubMed Score 66.96
PubTator Score 4.13

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

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

Gene RIF (4)

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

AA Sequence

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
//

Text Mined References (13)

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.