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MAGEH1 Gene

protein-coding   GIFtS: 53

GC0XP055495
melanoma antigen family H, 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
About This Section

Aliases
APR-1 2, 3
APR1 1, 2, 3
MAGEH 2
Restin 3
restin 2
Descriptions
Apoptosis-related protein 1 3
MAGE-H1 antigen 2, 3
melanoma antigen family H, 1 2
melanoma antigen, family H, 1 protein 2
melanoma-associated antigen H1 2
External Ids
HGNC: 240921
Entrez Gene: 289862
UniProtKB: Q9H2133
Ensembl: ENSG000001876017
Search outside databases for aliases for MAGEH1 gene

Previous GC identifers: GC0XP052453 GC0XP053416 GC0XP054083 GC0XP054445 GC0XP055361

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for MAGEH1:
This gene is thought to be involved in apoptosis. Multiple polyadenylation sites have been found
for this gene. [provided by RefSeq]

Gene Wiki entry for MAGEH1
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the MAGEH1 gene  

Entrez Gene cytogenetic band: Xp11.21   Ensembl cytogenetic band:  Xp11.21   HGNC cytogenetic band: Xp11.22

MAGEH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP055495:     (about GC identifiers)

Start:
55,495,263 bp from pter
End:
55,496,724 bp from pter
Size:
1,462 bases
Orientation:
plus strand
RefSeq DNA sequence:
NC_000023.9  NT_011630.14  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: MAGH1_HUMAN, Q9H213 (See protein sequence)
Recommended Name: Melanoma-associated antigen H1  
Size: 219 amino acids; 24441 Da
Secondary accessions: Q5JRJ3 Q9Y5M2

REFSEQ proteins: NP_054780.2  

ENSEMBL proteins: 
ENSP00000343706 


Human Recombinant Proteins 
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Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich  
Browse R&D Systems for human recombinant proteins
Browse recombinant and purified proteins available from Enzo Life Sciences
Recombinant Proteins from Abcam (MAGEH1)
Human Recombinant Proteins from Abnova (MAGEH1)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 


Antibodies for MAGEH1: 
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Sigma-Aldrich Antibodies for MAGEH1
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Antibodies from Abcam (MAGEH1), each with their AbpromiseSM
Monoclonal and Polyclonal Antibodies from Abnova (MAGEH1)
Novus Biologicals Antibodies for MAGEH1

Assays for MAGEH1: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR002190 MAGE


   GeneDecks  MAGEH1 for the domains selected above  
About GeneDecksing

Graphical View of Domain Structure for InterPro Entry Q9H213

ProtoNet protein and cluster: Q9H213

UniProtKB/Swiss-Prot: MAGH1_HUMAN, Q9H213
Similarity: Contains 1 MAGE domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (MAGEH1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014061

              Applied Biosystems Silencer® siRNAs for MAGEH1

              Sigma-Aldrich siRNA for MAGEH1  
                     Sigma-Aldrich shRNA for MAGEH1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for MAGEH1
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_014061
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_014061
                                 untagged cDNA clone in CMV expression vector: NM_014061 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_014061

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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 Gene Network CentralTM Interacting Genes and Proteins Network for  MAGEH1 


5/13 Interacting proteins for MAGEH1 (Q9H2132 ENSP000003437063) via UniProtKB, MINT, and/or STRING (see all 13 )
InteractantInteraction Details
GeneCardExternal ID(s)
CDK5RAP2Q96SN82MINT-65257
ENSG00000215769P522922MINT-3981271
KPNA2P522922MINT-3981271
MOAP1Q96BY22MINT-66040
NAP1L5Q96NT12MINT-65242
About this table

1 Gene Ontology (GO) biological process term (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0006915 apoptosis TAS10948432
About this table
(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for MAGEH1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (MAGEH1)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
              OriGene 29mer shRNA kit in GFP-retroviral vector: NM_014061

              Sigma-Aldrich siRNA for MAGEH1  
                     Sigma-Aldrich shRNA for MAGEH1  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_014061  

REFSEQ mRNAs for MAGEH1 gene: 

NM_014061.3   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_014061  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_014061
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_014061
                                 untagged cDNA clone in CMV expression vector: NM_014061 

Additional cDNA sequence: 

AF143235.4 AF320912.1 AK313527.1 BC011954.1 CR603973.1 CR605136.1 

2 DOTS entries:

DT.95171104  DT.100646448 

24/166 AceView cDNA sequences (see all 166 ):

AA814424 AW029208 N92737 CF264829 CR603973 BM453761 T35226 AI887770 
BI836581 AA279758 AA864521 NM_014061 BU622469 AI198003 AA255602 AI864484 
CD172467 BM926818 BC011954 BQ575346 AI190195 BU947493 AA339761 AI206861 

highest scoring ESTs for MAGEH1:

AI056401 AA249118 AA255576 AA255602 AA262183 AA262707 AA279758 AA339761 AA350164 AA370138 

Unigene Cluster for MAGEH1:

Melanoma antigen family H, 1
Hs.279819  [show with all ESTs]
Unigene Representative Sequence: AF143235


GeneLoc Exon Structure

1 Ensembl transcript including schematic representation:
ENST00000342972  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

MAGEH1 expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for MAGEH1

1 / 2 / 3

3 probe-sets matching MAGEH1 gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
45343_at2, 3 U95-B 1 1.00 1.00 1.00 1.00 AI056401 1.00 1.00 1.00 1

218573_at2, 3 U133-A 1 1.00 1.00 -- -- NM_014061 0.60 1.00 0.82 1

218573_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
GeneDecks  MAGEH1 for binary patterns associated with the probe-sets selected above  
About GeneDecksing
About this table    
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: ATTTTCCTTA

SOURCE GeneReport for Unigene cluster: Hs.279819
(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for MAGEH1 gene from 4 species
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
MAGEH11   -- melanoma antigen family H, 1 87.67(n)
94.06(a)
491904  XM_549024.2  XP_549024.1 
cow
(Bos taurus)
MAGEH11   -- melanoma antigen family H, 1 88.28(n)
94.06(a)
514533  XM_592401.3  XP_592401.1 
rat
(Rattus norvegicus)
Mageh11   -- melanoma antigen, family H, 1 87.92(n)
92.66(a)
367767  NM_001013250.1  NP_001013268.1 
mouse
(Mus musculus)
Mageh11, 5 X5
melanoma antigen, family H, 11, 5 88.38(n)1
93.12(a)1
756251  NM_023788.31  NP_076277.11 
 AF3199815  AI4136915  (see all 13)
About this table        Species with no ortholog for MAGEH1

ENSEMBL Gene Tree for MAGEH1
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

Paralogs for MAGEH1 gene
NDNL22  MAGEE22  MAGEE12  NDN2  MAGEF12  

(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


9 NCBI SNPs in MAGEH1 are shown
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (only AB snps)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr X posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
rs172508721,2
C,F,H55494346(+) AAACCT/CTGGAG 1 -- ng5111Minor allele frequency- C:0.03NA EU EA WA 766
rs24998771,2
F,H55496726(+) AGTACA/GTCTTG 1 -- ng314Minor allele frequency- G:0.00EU EA WA 418
--
rs115452111,2
C,F55496024(+) TGGGGG/ACCCCG 1 G/G syn1 ese34Minor allele frequency- A:0.32NA EA 214
--
rs732166171,2
--55493295(+) AGTAAG/TTAGGG 1 -- ng510--------
--
rs576200071,2
--55493465(+) TAGGAC/TTGTAC 1 -- ng510--------
--
rs608145181,2
--55493397(+) AAAAA-/ATTCAT 1 -- ng510--------
--
rs120148521,2
--55496264(+) GGGTCC/TTAAGT 1 -- ut31 ese30--------
--
rs346338551,2
--55493837(+) GTTAA-/GGAACA 1 -- ng510--------
--
rs719961721,2
--55493389(+) GCAGT-/AAAAAA 1 -- ng510--------
About this table
The following additional 2 SNP(s) have been found in Applied Biosystems data source:
(Click for Applied Biosystems TaqMan ® Genotyping Assay)


 rs12688603 rs4826404

HapMap Linkage Disequilibrium images for MAGEH1 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 300548

1 PharmGKB disease relationship for MAGEH1 gene
Disease PharmGKB Relations PubMed IDs for articles supporting these relationships
Leukemia, Lymphocytic, Acute, L1FA  GN  12730115
About this table

(Possibly Related Articles in Doctor's Guide)
About This Section

  --

(in PubMed. Associations of this gene to articles via 1Novoseek, 2HGNC, 3Entrez Gene, 4UniProtKB/Swiss-Prot, 5UniProtKB/TrEMBL, 6GAD, and/or 7PharmGKB)
About This Section

10/13 PubMed articles for MAGEH1 gene (see all 13 ):
(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)
(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 28986 HGNC: 24092 AceView: MAGEH1 Ensembl:ENSG00000187601 euGenes: HUgn28986
ECgene: MAGEH1 H-InvDB: MAGEH1
(According to HUGE)
About This Section

  --
(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

NameDescription
ATLAS Chromosomes in Cancer entry for MAGEH1 Genetics and Cytogenetics in Oncology and Haematology
(Available from WIS Yeda, Salk, Tufts)
About This Section

  --
(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section



Products for MAGEH1:
 TaqMan ® Gene Expression Assays
 TaqMan ® Genotyping Assays
  Free SNP selection tool



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 Antibodies for MAGEH1

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