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Protein

Melanoma-associated antigen D1

Gene

MAGED1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Involved in the apoptotic response after nerve growth factor (NGF) binding in neuronal cells. Inhibits cell cycle progression, and facilitates NGFR-mediated apoptosis. May act as a regulator of the function of DLX family members. 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. Plays a role in the circadian rhythm regulation. May act as RORA co-regulator, modulating the expression of core clock genes such as ARNTL/BMAL1 and NFIL3, induced, or NR1D1, repressed.1 Publication

GO - Molecular functioni

  • identical protein binding Source: IntAct
  • transcription coactivator activity Source: Ensembl

GO - Biological processi

Keywordsi

Molecular functionTumor antigen
Biological processBiological rhythms, Ubl conjugation pathway

Enzyme and pathway databases

ReactomeiR-HSA-193648 NRAGE signals death through JNK
R-HSA-418889 via Dependence Receptors in the absence of ligand
SignaLinkiQ9Y5V3
SIGNORiQ9Y5V3

Names & Taxonomyi

Protein namesi
Recommended name:
Melanoma-associated antigen D1
Alternative name(s):
MAGE tumor antigen CCF
MAGE-D1 antigen
Neurotrophin receptor-interacting MAGE homolog
Gene namesi
Name:MAGED1
Synonyms:NRAGE
ORF Names:PP2250, PRO2292
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome X

Organism-specific databases

EuPathDBiHostDB:ENSG00000179222.17
HGNCiHGNC:6813 MAGED1
MIMi300224 gene
neXtProtiNX_Q9Y5V3

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cytoplasm, Membrane, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi9500
OpenTargetsiENSG00000179222
PharmGKBiPA30559

Polymorphism and mutation databases

BioMutaiMAGED1
DMDMi62906893

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001567231 – 778Melanoma-associated antigen D1Add BLAST778

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei92PhosphotyrosineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ9Y5V3
PaxDbiQ9Y5V3
PeptideAtlasiQ9Y5V3
PRIDEiQ9Y5V3
ProteomicsDBi86514
86515 [Q9Y5V3-2]

PTM databases

iPTMnetiQ9Y5V3
PhosphoSitePlusiQ9Y5V3

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000179222 Expressed in 233 organ(s), highest expression level in pituitary gland
CleanExiHS_MAGED1
GenevisibleiQ9Y5V3 HS

Organism-specific databases

HPAiHPA043645

Interactioni

Subunit structurei

Interacts with DLX5, DLX7 and MSX2 and forms homomultimers. Interacts with UNC5A. Interacts with TRIM28 and PJA1. Interacts with NGFR/p75NTR and RORA.1 Publication

Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

BioGridi114879, 121 interactors
IntActiQ9Y5V3, 142 interactors
MINTiQ9Y5V3
STRINGi9606.ENSP00000364847

Structurei

3D structure databases

ProteinModelPortaliQ9Y5V3
SMRiQ9Y5V3
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Repeati296 – 30116
Repeati302 – 30726
Repeati308 – 31336
Repeati332 – 33746
Repeati338 – 34356
Repeati344 – 34966
Repeati350 – 35576
Repeati356 – 36186
Repeati362 – 36796
Repeati368 – 373106
Repeati374 – 379116
Repeati380 – 385126
Repeati386 – 391136
Repeati392 – 397146
Repeati398 – 403156
Repeati404 – 409166
Repeati410 – 415176
Repeati416 – 421186
Repeati422 – 427196
Repeati428 – 43220; approximate5
Repeati433 – 438216
Repeati439 – 444226
Domaini471 – 669MAGEPROSITE-ProRule annotationAdd BLAST199

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni296 – 44422 X 6 AA tandem repeats of W-[PQ]-X-P-X-XAdd BLAST149

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi279 – 452Pro-richAdd BLAST174

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG4562 Eukaryota
ENOG4111S70 LUCA
GeneTreeiENSGT00760000118824
HOVERGENiHBG003714
InParanoidiQ9Y5V3
KOiK12464
OMAiWQNPVIW
OrthoDBiEOG091G09D3
PhylomeDBiQ9Y5V3
TreeFamiTF352132

Family and domain databases

InterProiView protein in InterPro
IPR037445 MAGE
IPR030083 MAGED1
IPR002190 MHD_dom
PANTHERiPTHR11736 PTHR11736, 1 hit
PTHR11736:SF28 PTHR11736:SF28, 1 hit
PfamiView protein in Pfam
PF01454 MAGE, 1 hit
SMARTiView protein in SMART
SM01373 MAGE, 1 hit
PROSITEiView protein in PROSITE
PS50838 MAGE, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket
Isoform 1 (identifier: Q9Y5V3-1) [UniParc]FASTAAdd to basket

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.

« Hide
        10         20         30         40         50
MAQKMDCGAG LLGFQAEASV EDSALLMQTL MEAIQISEAP PTNQATAAAS
60 70 80 90 100
PQSSQPPTAN EMADIQVSAA AARPKSAFKV QNATTKGPNG VYDFSQAHNA
110 120 130 140 150
KDVPNTQPKA AFKSQNATPK GPNAAYDFSQ AATTGELAAN KSEMAFKAQN
160 170 180 190 200
ATTKVGPNAT YNFSQSLNAN DLANSRPKTP FKAWNDTTKA PTADTQTQNV
210 220 230 240 250
NQAKMATSQA DIETDPGISE PDGATAQTSA DGSQAQNLES RTIIRGKRTR
260 270 280 290 300
KINNLNVEEN SSGDQRRAPL AAGTWRSAPV PVTTQNPPGA PPNVLWQTPL
310 320 330 340 350
AWQNPSGWQN QTARQTPPAR QSPPARQTPP AWQNPVAWQN PVIWPNPVIW
360 370 380 390 400
QNPVIWPNPI VWPGPVVWPN PLAWQNPPGW QTPPGWQTPP GWQGPPDWQG
410 420 430 440 450
PPDWPLPPDW PLPPDWPLPT DWPLPPDWIP ADWPIPPDWQ NLRPSPNLRP
460 470 480 490 500
SPNSRASQNP GAAQPRDVAL LQERANKLVK YLMLKDYTKV PIKRSEMLRD
510 520 530 540 550
IIREYTDVYP EIIERACFVL EKKFGIQLKE IDKEEHLYIL ISTPESLAGI
560 570 580 590 600
LGTTKDTPKL GLLLVILGVI FMNGNRASEA VLWEALRKMG LRPGVRHPLL
610 620 630 640 650
GDLRKLLTYE FVKQKYLDYR RVPNSNPPEY EFLWGLRSYH ETSKMKVLRF
660 670 680 690 700
IAEVQKRDPR DWTAQFMEAA DEALDALDAA AAEAEARAEA RTRMGIGDEA
710 720 730 740 750
VSGPWSWDDI EFELLTWDEE GDFGDPWSRI PFTFWARYHQ NARSRFPQTF
760 770
AGPIIGPGGT ASANFAANFG AIGFFWVE
Length:778
Mass (Da):86,161
Last modified:April 26, 2005 - v3
Checksum:iD818690052D166CE
GO
Isoform 2 (identifier: Q9Y5V3-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     15-15: Q → QNPDACRAVCHPLPQPPASTLPLSAFPTLCDPPYSQLRDPPAVLSCYCTPLGASPAP

Note: No experimental confirmation available.
Show »
Length:834
Mass (Da):91,959
Checksum:iCD8E13CE9B35EA7C
GO

Sequence cautioni

The sequence AAD31421 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence AAG35551 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti119P → S in AAG09704 (PubMed:10985348).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060070238L → M. Corresponds to variant dbSNP:rs12689461Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00928615Q → QNPDACRAVCHPLPQPPAST LPLSAFPTLCDPPYSQLRDP PAVLSCYCTPLGASPAP in isoform 2. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF217963 mRNA Translation: AAG09704.1
AF258554 mRNA Translation: AAG23757.1
AF300328 mRNA Translation: AAQ14483.1
AL929410 Genomic DNA No translation available.
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.
CCDSiCCDS14337.1 [Q9Y5V3-1]
CCDS35279.1 [Q9Y5V3-2]
PIRiT43464
RefSeqiNP_001005332.1, NM_001005332.1 [Q9Y5V3-1]
NP_001005333.1, NM_001005333.1 [Q9Y5V3-2]
NP_008917.3, NM_006986.3 [Q9Y5V3-1]
XP_011529137.1, XM_011530835.2 [Q9Y5V3-1]
XP_016885467.1, XM_017029978.1 [Q9Y5V3-1]
XP_016885468.1, XM_017029979.1 [Q9Y5V3-1]
XP_016885469.1, XM_017029980.1 [Q9Y5V3-1]
UniGeneiHs.5258

Genome annotation databases

EnsembliENST00000326587; ENSP00000325333; ENSG00000179222 [Q9Y5V3-1]
ENST00000375695; ENSP00000364847; ENSG00000179222 [Q9Y5V3-2]
ENST00000375722; ENSP00000364874; ENSG00000179222 [Q9Y5V3-1]
ENST00000375772; ENSP00000364927; ENSG00000179222 [Q9Y5V3-1]
GeneIDi9500
KEGGihsa:9500
UCSCiuc004dpm.5 human [Q9Y5V3-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF217963 mRNA Translation: AAG09704.1
AF258554 mRNA Translation: AAG23757.1
AF300328 mRNA Translation: AAQ14483.1
AL929410 Genomic DNA No translation available.
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.
CCDSiCCDS14337.1 [Q9Y5V3-1]
CCDS35279.1 [Q9Y5V3-2]
PIRiT43464
RefSeqiNP_001005332.1, NM_001005332.1 [Q9Y5V3-1]
NP_001005333.1, NM_001005333.1 [Q9Y5V3-2]
NP_008917.3, NM_006986.3 [Q9Y5V3-1]
XP_011529137.1, XM_011530835.2 [Q9Y5V3-1]
XP_016885467.1, XM_017029978.1 [Q9Y5V3-1]
XP_016885468.1, XM_017029979.1 [Q9Y5V3-1]
XP_016885469.1, XM_017029980.1 [Q9Y5V3-1]
UniGeneiHs.5258

3D structure databases

ProteinModelPortaliQ9Y5V3
SMRiQ9Y5V3
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi114879, 121 interactors
IntActiQ9Y5V3, 142 interactors
MINTiQ9Y5V3
STRINGi9606.ENSP00000364847

PTM databases

iPTMnetiQ9Y5V3
PhosphoSitePlusiQ9Y5V3

Polymorphism and mutation databases

BioMutaiMAGED1
DMDMi62906893

Proteomic databases

EPDiQ9Y5V3
PaxDbiQ9Y5V3
PeptideAtlasiQ9Y5V3
PRIDEiQ9Y5V3
ProteomicsDBi86514
86515 [Q9Y5V3-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000326587; ENSP00000325333; ENSG00000179222 [Q9Y5V3-1]
ENST00000375695; ENSP00000364847; ENSG00000179222 [Q9Y5V3-2]
ENST00000375722; ENSP00000364874; ENSG00000179222 [Q9Y5V3-1]
ENST00000375772; ENSP00000364927; ENSG00000179222 [Q9Y5V3-1]
GeneIDi9500
KEGGihsa:9500
UCSCiuc004dpm.5 human [Q9Y5V3-1]

Organism-specific databases

CTDi9500
DisGeNETi9500
EuPathDBiHostDB:ENSG00000179222.17
GeneCardsiMAGED1
HGNCiHGNC:6813 MAGED1
HPAiHPA043645
MIMi300224 gene
neXtProtiNX_Q9Y5V3
OpenTargetsiENSG00000179222
PharmGKBiPA30559
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4562 Eukaryota
ENOG4111S70 LUCA
GeneTreeiENSGT00760000118824
HOVERGENiHBG003714
InParanoidiQ9Y5V3
KOiK12464
OMAiWQNPVIW
OrthoDBiEOG091G09D3
PhylomeDBiQ9Y5V3
TreeFamiTF352132

Enzyme and pathway databases

ReactomeiR-HSA-193648 NRAGE signals death through JNK
R-HSA-418889 via Dependence Receptors in the absence of ligand
SignaLinkiQ9Y5V3
SIGNORiQ9Y5V3

Miscellaneous databases

ChiTaRSiMAGED1 human
GeneWikiiMAGED1
GenomeRNAii9500
PROiPR:Q9Y5V3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179222 Expressed in 233 organ(s), highest expression level in pituitary gland
CleanExiHS_MAGED1
GenevisibleiQ9Y5V3 HS

Family and domain databases

InterProiView protein in InterPro
IPR037445 MAGE
IPR030083 MAGED1
IPR002190 MHD_dom
PANTHERiPTHR11736 PTHR11736, 1 hit
PTHR11736:SF28 PTHR11736:SF28, 1 hit
PfamiView protein in Pfam
PF01454 MAGE, 1 hit
SMARTiView protein in SMART
SM01373 MAGE, 1 hit
PROSITEiView protein in PROSITE
PS50838 MAGE, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMAGD1_HUMAN
AccessioniPrimary (citable) accession number: Q9Y5V3
Secondary accession number(s): Q5VSH6
, Q8IZ84, Q8WY92, Q9H352, Q9HBT4, Q9UF36
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 24, 2001
Last sequence update: April 26, 2005
Last modified: October 10, 2018
This is version 178 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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