Human Gene MAGEA6 (uc004ffq.1)
  Description: Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 1, mRNA.
RefSeq Summary (NM_005363): This gene is a member of the MAGEA gene family. The members of this family encode proteins with 50 to 80% sequence identity to each other. The promoters and first exons of the MAGEA genes show considerable variability, suggesting that the existence of this gene family enables the same function to be expressed under different transcriptional controls. The MAGEA genes are clustered at chromosomal location Xq28. They have been implicated in some hereditary disorders, such as dyskeratosis congenita. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013].
Transcript (Including UTRs)
   Position: hg19 chrX:151,867,245-151,870,814 Size: 3,570 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chrX:151,869,311-151,870,255 Size: 945 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:151,867,245-151,870,814)mRNA (may differ from genome)Protein (314 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMalacardsMGI
neXtProtOMIMPubMedTreefamUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MAGA6_HUMAN
DESCRIPTION: RecName: Full=Melanoma-associated antigen 6; AltName: Full=Cancer/testis antigen 1.6; Short=CT1.6; AltName: Full=MAGE-6 antigen; AltName: Full=MAGE3B antigen;
FUNCTION: Proposed to enhance ubiquitin ligase activity of RING- type zinc finger-containing E3 ubiquitin-protein ligases. May enhance ubiquitin ligase activity of TRIM28 and stimulate p53/TP53 ubiquitination by TRIM28. Proposed to act through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. May play a role in tumor transformation or aspects of tumor progression. In vitro promotes cell viability in melanoma cell lines.
SUBUNIT: Interacts with TRIM28.
INTERACTION: Q13263:TRIM28; NbExp=2; IntAct=EBI-1045155, EBI-78139;
TISSUE SPECIFICITY: Expressed in many tumors of several types, such as melanoma, head and neck squamous cell carcinoma, lung carcinoma and breast carcinoma, but not in normal tissues except for testes.
SIMILARITY: Contains 1 MAGE domain.
CAUTION: In vitro experiments by PubMed:17942928 measuring cell viability in melanoma cell lines used siRNA specific for MAGEA3 and MAGEA6.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAGEA6
Diseases sorted by gene-association score: melanoma (13), terminal osseous dysplasia (3), dyskeratosis congenita (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 5.22 RPKM in Testis
Total median expression: 5.22 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -83.60194-0.431 Picture PostScript Text
3' UTR -153.14559-0.274 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002190 - MAGE
IPR021072 - Melanoma_ass_antigen_N

Pfam Domains:
PF01454 - MAGE family
PF12440 - Melanoma associated antigen family N terminal

ModBase Predicted Comparative 3D Structure on P43360
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
      
      
      
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005515 protein binding

Biological Process:
GO:0008150 biological_process

Cellular Component:
GO:0005575 cellular_component


-  Descriptions from all associated GenBank mRNAs
  AK289437 - Homo sapiens cDNA FLJ75564 complete cds, highly similar to Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 1, mRNA.
BC067731 - Homo sapiens melanoma antigen family A, 6, mRNA (cDNA clone MGC:86948 IMAGE:4828429), complete cds.
BC041599 - Homo sapiens melanoma antigen family A, 6, mRNA (cDNA clone MGC:52297 IMAGE:5458512), complete cds.
JD069346 - Sequence 50370 from Patent EP1572962.
BX640600 - Homo sapiens mRNA; cDNA DKFZp686A13192 (from clone DKFZp686A13192).
JD489659 - Sequence 470683 from Patent EP1572962.
JD157013 - Sequence 138037 from Patent EP1572962.
D32076 - Homo sapiens mRNA for MAGE-6 protein, complete cds.
CR542020 - Homo sapiens full open reading frame cDNA clone RZPDo834E0635D for gene MAGEA6, melanoma antigen, family A, 6; complete cds, without stopcodon.
CR541768 - Homo sapiens full open reading frame cDNA clone RZPDo834A0530D for gene MAGEA6, melanoma antigen, family A, 6; complete cds, incl. stopcodon.
U10339 - Human MAGE-3b mRNA, complete cds.
EU161101 - Homo sapiens melanoma antigen family A 6 (MAGEA6) mRNA, complete cds.
JD295017 - Sequence 276041 from Patent EP1572962.
JD139305 - Sequence 120329 from Patent EP1572962.
JD139306 - Sequence 120330 from Patent EP1572962.
JD267011 - Sequence 248035 from Patent EP1572962.
JD112948 - Sequence 93972 from Patent EP1572962.
JD209635 - Sequence 190659 from Patent EP1572962.
JD429624 - Sequence 410648 from Patent EP1572962.
JD120094 - Sequence 101118 from Patent EP1572962.
JD549612 - Sequence 530636 from Patent EP1572962.
JD181783 - Sequence 162807 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: A8IF93, MAGA6_HUMAN, MAGE6, NM_005363, NP_787064, P43360, Q6NW44
UCSC ID: uc004ffq.1
RefSeq Accession: NM_005363
Protein: P43360 (aka MAGA6_HUMAN or MAG6_HUMAN)

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_005363.2
exon count: 3CDS single in 3' UTR: no RNA size: 1723
ORF size: 945CDS single in intron: no Alignment % ID: 99.94
txCdsPredict score: 2090.00frame shift in genome: no % Coverage: 98.55
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.