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Reviewed, UniProtKB/Swiss-Prot Q9Y5V3 (MAGD1_HUMAN)

Last modified January 19, 2010. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents

Names and origin

Protein namesRecommended name:
    Melanoma-associated antigen D1
Alternative name(s):
    MAGE-D1 antigen
    Neurotrophin receptor-interacting MAGE homolog
    MAGE tumor antigen CCF
Gene names
Name: MAGED1
Synonyms: NRAGE
ORF Names: PRO2292, PP2250
OrganismHomo sapiens (Human) [Complete proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length778 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level.

General annotation (Comments)

Function

Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Binds p75NTR and antagonizes its association with TrkA, inhibits cell cycle progression, and facilitates p75NTR-mediated apoptosis. May act as a regulator of the function of DLX family members. May regulate p53 transcriptional activity and inhibit cell proliferation. Enhances p53 phosphorylation and accumulation.

Subunit structure

Interacts with DLX5, DLX7 and MSX2 and forms homomultimers. Interacts with UNC5A By similarity. Interacts with the p75 neurotrophin receptor.

Subcellular location

Cytoplasm By similarity. Cell membrane; Peripheral membrane protein By similarity. Note: Expression shifts from the cytoplasm to the plasma membrane upon stimulation with NGF By similarity.

Tissue specificity

Expressed in bone marrow stromal cells from both multiple myeloma patients and healthy donors. Seems to be ubiquitously expressed.

Sequence similarities

Contains 1 MAGE domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9Y5V3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9Y5V3-2)

The sequence of this isoform differs from the canonical sequence as follows:
     15-15: Q → QNPDACRAVCHPLPQPPASTLPLSAFPTLCDPPYSQLRDPPAVLSCYCTPLGASPAP
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 778778Melanoma-associated antigen D1
PRO_0000156723

Regions

Repeat296 – 30161
Repeat302 – 30762
Repeat308 – 31363
Repeat332 – 33764
Repeat338 – 34365
Repeat344 – 34966
Repeat350 – 35567
Repeat356 – 36168
Repeat362 – 36769
Repeat368 – 373610
Repeat374 – 379611
Repeat380 – 385612
Repeat386 – 391613
Repeat392 – 397614
Repeat398 – 403615
Repeat404 – 409616
Repeat410 – 415617
Repeat416 – 421618
Repeat422 – 427619
Repeat428 – 432520; approximate
Repeat433 – 438621
Repeat439 – 444622
Domain471 – 669199MAGE
Region296 – 44414922 X 6 AA tandem repeats of W-[PQ]-X-P-X-X
Compositional bias279 – 452174Pro-rich

Amino acid modifications

Modified residue921Phosphotyrosine Ref.10

Natural variations

Alternative sequence151Q → QNPDACRAVCHPLPQPPAST LPLSAFPTLCDPPYSQLRDP PAVLSCYCTPLGASPAP in isoform 2.
VSP_009286
Natural variant2381L → M: dbSNP rs12689461.
VAR_060070

Experimental info

Sequence conflict1191P → S in AAG09704. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 26, 2005. Version 3.
Checksum: D818690052D166CE

FASTA77886,161
        10         20         30         40         50         60 
MAQKMDCGAG LLGFQAEASV EDSALLMQTL MEAIQISEAP PTNQATAAAS PQSSQPPTAN 

        70         80         90        100        110        120 
EMADIQVSAA AARPKSAFKV QNATTKGPNG VYDFSQAHNA KDVPNTQPKA AFKSQNATPK 

       130        140        150        160        170        180 
GPNAAYDFSQ AATTGELAAN KSEMAFKAQN ATTKVGPNAT YNFSQSLNAN DLANSRPKTP 

       190        200        210        220        230        240 
FKAWNDTTKA PTADTQTQNV NQAKMATSQA DIETDPGISE PDGATAQTSA DGSQAQNLES 

       250        260        270        280        290        300 
RTIIRGKRTR KINNLNVEEN SSGDQRRAPL AAGTWRSAPV PVTTQNPPGA PPNVLWQTPL 

       310        320        330        340        350        360 
AWQNPSGWQN QTARQTPPAR QSPPARQTPP AWQNPVAWQN PVIWPNPVIW QNPVIWPNPI 

       370        380        390        400        410        420 
VWPGPVVWPN PLAWQNPPGW QTPPGWQTPP GWQGPPDWQG PPDWPLPPDW PLPPDWPLPT 

       430        440        450        460        470        480 
DWPLPPDWIP ADWPIPPDWQ NLRPSPNLRP SPNSRASQNP GAAQPRDVAL LQERANKLVK 

       490        500        510        520        530        540 
YLMLKDYTKV PIKRSEMLRD IIREYTDVYP EIIERACFVL EKKFGIQLKE IDKEEHLYIL 

       550        560        570        580        590        600 
ISTPESLAGI LGTTKDTPKL GLLLVILGVI FMNGNRASEA VLWEALRKMG LRPGVRHPLL 

       610        620        630        640        650        660 
GDLRKLLTYE FVKQKYLDYR RVPNSNPPEY EFLWGLRSYH ETSKMKVLRF IAEVQKRDPR 

       670        680        690        700        710        720 
DWTAQFMEAA DEALDALDAA AAEAEARAEA RTRMGIGDEA VSGPWSWDDI EFELLTWDEE 

       730        740        750        760        770 
GDFGDPWSRI PFTFWARYHQ NARSRFPQTF AGPIIGPGGT ASANFAANFG AIGFFWVE 

« Hide

Isoform 2.

Checksum: CD8E13CE9B35EA7C
Show »

FASTA83491,959

References

« Hide 'large scale' references
[1]"NRAGE, a novel MAGE protein, interacts with the p75 neurotrophin receptor and facilitates nerve growth factor dependent apoptosis."
Salehi A.H., Roux P.P., Kubu C.J., Zeindler C., Bhakar A., Tannis L.-L., Verdi J.M., Barker P.A.
Neuron 27:279-288(2000) [PubMed: 10985348] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[2]"hNRAGE, a human neurotrophin receptor interacting MAGE homologue, regulates p53 transcriptional activity and inhibits cell proliferation."
Wen C.-J., Xue B., Qin W.-X., Yu M., Zhang M.-Y., Zhao D.-H., Gao X., Gu J.-R., Li C.-J.
FEBS Lett. 564:171-176(2004) [PubMed: 15094062] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Placenta.
[3]"Identification and characterization of a new member of the MAGE gene family."
Chen Y.
Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[4]"The DNA sequence of the human X chromosome."
Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D., Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L., Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C. expand/collapse author list , Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A., Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P., Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D., Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D., Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L., Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P., Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G., Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J., Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D., Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L., Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z., Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S., Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S., Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O., Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H., Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T., Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L., Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R., Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y., Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K., Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J., Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L., Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S., Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A., Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L., Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D., Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H., McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S., Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C., Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S., Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V., Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K., Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K., Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D., Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R., Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B., Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C., d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q., Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N., Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A., Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J., Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A., Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F., Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L., Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S., Rogers J., Bentley D.R.
Nature 434:325-337(2005) [PubMed: 15772651] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
Tissue: Blood and Skin.
[6]"Identification of a new, unorthodox member of the MAGE gene family."
Pold M., Zhou J., Chen G.L., Hall J.M., Vescio R.A., Berenson J.R.
Genomics 59:161-167(1999) [PubMed: 10409427] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 202-778 (ISOFORM 1).
Tissue: Bone marrow.
[7]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed: 17974005] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 304-778.
Tissue: Testis.
[8]"A new melanoma antigen-encoding gene subfamily in human chromosome X."
Zhang C.G., Xing G.C., Wei H.D., Yu Y.T., He F.C.
Yi Chuan Xue Bao 28:197-203(2001) [PubMed: 11280991] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 396-778.
Tissue: Fetal liver.
[9]"Identification of the translational initiation codon in human MAGED1."
Kubu C.J., Goldhawk D.G., Barker P.A., Verdi J.M.
Genomics 70:150-152(2000) [PubMed: 11087672] [Abstract]
Cited for: IDENTIFICATION OF THE TRANSLATIONAL INITIATION CODON.
[10]"Global survey of phosphotyrosine signaling identifies oncogenic kinases in lung cancer."
Rikova K., Guo A., Zeng Q., Possemato A., Yu J., Haack H., Nardone J., Lee K., Reeves C., Li Y., Hu Y., Tan Z., Stokes M., Sullivan L., Mitchell J., Wetzel R., Macneill J., Ren J.M. expand/collapse author list , Yuan J., Bakalarski C.E., Villen J., Kornhauser J.M., Smith B., Li D., Zhou X., Gygi S.P., Gu T.-L., Polakiewicz R.D., Rush J., Comb M.J.
Cell 131:1190-1203(2007) [PubMed: 18083107] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT TYR-92, MASS SPECTROMETRY.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF217963 mRNA. Translation: AAG09704.1.
AF258554 mRNA. Translation: AAG23757.1.
AF300328 mRNA. Translation: AAQ14483.1.
AL929410 Genomic DNA. Translation: CAH71560.1.
AL929410 Genomic DNA. Translation: CAH71561.1.
BC014070 mRNA. Translation: AAH14070.1.
BC032473 mRNA. Translation: AAH32473.1.
AF124440 mRNA. Translation: AAD31421.1. Different initiation.
AL133628 mRNA. Translation: CAB63752.1.
AF132205 mRNA. Translation: AAG35551.1. Different initiation.
IPIIPI00328354.
IPI00398845.
PIRT43464.
RefSeqNP_001005332.1.
NP_001005333.1.
NP_008917.3.
UniGeneHs.5258

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActQ9Y5V3. 47 interactions.
STRINGQ9Y5V3.

PTM databases

PhosphoSiteQ9Y5V3.

Proteomic databases

PRIDEQ9Y5V3.

Genome annotation databases

EnsemblENST00000326587; ENSP00000325333; ENSG00000179222; Homo sapiens. [Genome view]
ENST00000375722; ENSP00000364874; ENSG00000179222; Homo sapiens. [Genome view]
ENST00000375772; ENSP00000364927; ENSG00000179222; Homo sapiens. [Genome view]
GeneID9500.
KEGGhsa:9500.
UCSCuc004dpm.1. human.
uc004dpn.1. human.

Organism-specific databases

CTD9500.
GeneCardsGC0XP051562.
H-InvDBHIX0019123.
HGNCHGNC:6813. MAGED1.
HPACAB015165.
MIM300224. gene.
PharmGKBPA30559.
GenAtlasSearch...

Phylogenomic databases

eggNOGprNOG11910.
HOVERGENQ9Y5V3.
OMAWPLPPDW.
OrthoDBEOG90S310.

Enzyme and pathway databases

Pathway_Interaction_DBtrkrpathway. Neurotrophic factor-mediated Trk receptor signaling.
p75ntrpathway. p75(NTR)-mediated signaling.
ReactomeREACT_11061. Signalling by NGF.

Gene expression databases

ArrayExpressQ9Y5V3.
BgeeQ9Y5V3.
CleanExHS_MAGED1.
GenevestigatorQ9Y5V3.
GermOnlineENSG00000179222. Homo sapiens.

Family and domain databases

InterProIPR002190. MAGE.
[Graphical view]
PANTHERPTHR11736. MAGE. 1 hit.
PfamPF01454. MAGE. 1 hit.
[Graphical view]
PROSITEPS50838. MAGE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

NextBio35594.
SOURCESearch...

Entry information

Entry nameMAGD1_HUMAN
AccessionPrimary (citable) accession number: Q9Y5V3
Secondary accession number(s): Q5VSH6 expand/collapse secondary AC list , Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36
Entry history
Integrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: April 26, 2005
Last modified: January 19, 2010
This is version 89 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

Human chromosome X

Human chromosome X: entries, gene names and cross-references to MIM

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Binary interactions · Alternative products · Sequence annotation (Features) · Sequences · References · Cross-references · Entry information · Relevant documents