Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

MAGE-like protein 2

Gene

MAGEL2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Probably enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, possibly through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Acts as a regulator of retrograde transport via its interaction with VPS35. Recruited to retromer-containing endosomes and promotes the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1 together with TRIM27, leading to promote endosomal F-actin assembly (PubMed:23452853). Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Significantly promotes the cytoplasmic accumulation of CLOCK (By similarity).By similarity2 Publications

Miscellaneous

Imprinted, expressed from the paternal chromosome only.

GO - Molecular functioni

  • ubiquitin-protein transferase activity Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionRepressor
Biological processBiological rhythms, Transcription, Transcription regulation, Transport, Ubl conjugation pathway

Enzyme and pathway databases

SIGNORiQ9UJ55.

Names & Taxonomyi

Protein namesi
Recommended name:
MAGE-like protein 2
Alternative name(s):
Necdin-like protein 1
Protein nM15
Gene namesi
Name:MAGEL2
Synonyms:NDNL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 15

Organism-specific databases

EuPathDBiHostDB:ENSG00000254585.2.
HGNCiHGNC:6814. MAGEL2.

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

Cytoplasm, Endosome, Nucleus

Pathology & Biotechi

Involvement in diseasei

Schaaf-Yang syndrome (SHFYNG)1 Publication
The disease is caused by mutations affecting the gene represented in this entry. All mutations occurred on the paternal allele.
Disease descriptionA disease characterized by clinical features of Prader-Willi syndrome, including neonatal hypotonia with poor suck, feeding problems in infancy, obesity, developmental delay, short stature, and hypogonadism. Additionally, patients manifest autism spectrum disorder. Some patients have dysmorphic facial features.
See also OMIM:615547

Keywords - Diseasei

Autism spectrum disorder, Mental retardation, Obesity

Organism-specific databases

DisGeNETi54551.
GeneReviewsiMAGEL2.
MalaCardsiMAGEL2.
MIMi615547. phenotype.
OpenTargetsiENSG00000254585.
Orphaneti177910. Prader-Willi syndrome due to imprinting mutation.
98754. Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15.
177901. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1.
177904. Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2.
398069. Prader-Willi syndrome due to point mutation.

Polymorphism and mutation databases

DMDMi17380152.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001567381 – 1249MAGE-like protein 2Add BLAST1249

Proteomic databases

EPDiQ9UJ55.
MaxQBiQ9UJ55.
PaxDbiQ9UJ55.
PeptideAtlasiQ9UJ55.
PRIDEiQ9UJ55.

PTM databases

iPTMnetiQ9UJ55.
PhosphoSitePlusiQ9UJ55.

Expressioni

Tissue specificityi

Expressed in placenta, fetal and adult brain. Not detected in heart and small intestine, very low levels in fibroblasts. Not expressed in brain of a Prader-Willi patient.1 Publication

Gene expression databases

BgeeiENSG00000254585.
CleanExiHS_MAGEL2.

Interactioni

Subunit structurei

Interacts with TRIM27. Interacts with VPS35; leading to recruitment at retromer-containing endosomes. Interacts with ARNTL/BMAL1 and PER2 (By similarity).By similarity2 Publications

Protein-protein interaction databases

CORUMiQ9UJ55.
IntActiQ9UJ55. 3 interactors.
STRINGi9606.ENSP00000433433.

Structurei

3D structure databases

ProteinModelPortaliQ9UJ55.
SMRiQ9UJ55.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini1020 – 1219MAGEPROSITE-ProRule annotationAdd BLAST200

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi13 – 700Pro-richPROSITE-ProRule annotationAdd BLAST688

Phylogenomic databases

eggNOGiKOG4562. Eukaryota.
ENOG4111S70. LUCA.
GeneTreeiENSGT00760000118824.
HOVERGENiHBG052400.
InParanoidiQ9UJ55.
OMAiGTPMAHP.
OrthoDBiEOG091G0TJ0.
TreeFamiTF328505.

Family and domain databases

InterProiView protein in InterPro
IPR002190. MHD_dom.
PfamiView protein in Pfam
PF01454. MAGE. 1 hit.
SMARTiView protein in SMART
SM01373. MAGE. 1 hit.
PROSITEiView protein in PROSITE
PS50838. MAGE. 1 hit.

Sequencei

Sequence statusi: Complete.

Q9UJ55-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MSQLSKNLGD SSPPAEAPKP PVYSRPTVLM RAPPASSRAP PVPWDPPPID
60 70 80 90 100
LQASLAAWQA PQPAWEAPQG QLPAPVVPMT QPPALGGPIV PAPPLGGPMG
110 120 130 140 150
KPPTPGVLMV HPPPPGAPMA QPPTPGVLMV HPSAPGAPMA HPPPPGTPMS
160 170 180 190 200
HPPPPGTPMA HPPPPGTPMA HPPPPGTPMV HPPPPGTPMA HPPPPGTPMA
210 220 230 240 250
HPPPPGTPMA HPPPPGTPMA HPPPPGTPMA QPPAPGVLMA QPLTPGVLMV
260 270 280 290 300
QPAAPGAPMV QPPPAAMMTQ PQPSGAPMAK PPGPGVLMIH PPGARAPMTQ
310 320 330 340 350
PPASGAPMAQ PAAPPAQPMA PPAQPMASWA PQAQPLILQI QSQVIRAPPQ
360 370 380 390 400
VPQGPQAPPA QLATPPGWQA TSPGWQATQQ GWQATPLTWQ TTQVTWQAPA
410 420 430 440 450
VTWQVPPPMR QGPPPIRPGP PPIRPGPPPV RQAPPLIRQA PPVIRQAPPV
460 470 480 490 500
IRQAPPVIRQ APAVIRQAPP VIRQAPPVIR QAPPVIRQAP PLIRQAPPPI
510 520 530 540 550
RPAPQVLATQ PPLWQALPPP PPLRQAPQAR LPAPQVQAAP QVPTAPPATQ
560 570 580 590 600
VPAAPPAGPQ VPQPVLPAPL SAPLSAPQAV HCPSIIWQAP KGQPPVPHEI
610 620 630 640 650
PTSMEFQEVQ QTQALAWQAQ KAPTHIWQPL PAQEAQRQAP PLVQLEQPFQ
660 670 680 690 700
GAPPSQKAVQ IQLPPQQAQA SGPQAEVPTL PLQPSWQAPP AVLQAQPGPP
710 720 730 740 750
VAAANFPLGS AKSLMTPSGE CRASSIDRRG SSKERRTSSK ERRAPSKDRM
760 770 780 790 800
IFAATFCAPK AVSAARAHLP AAWKNLPATP ETFAPSSSVF PATSQFQPAS
810 820 830 840 850
LNAFKGPSAA SETPKSLPYA LQDPFACVEA LPAVPWVPQP NMNASKASQA
860 870 880 890 900
VPTFLMATAA APQATATTQE ASKTSVEPPR RSGKATRKKK HLEAQEDSRG
910 920 930 940 950
HTLAFHDWQG PRPWENLNLS DWEVQSPIQV SGDWEHPNTP RGLSGWEGPS
960 970 980 990 1000
TSRILSGWEG PSASWALSAW EGPSTSRALG LSESPGSSLP VVVSEVASVS
1010 1020 1030 1040 1050
PGSSATQDNS KVEAQPLSPL DERANALVQF LLVKDQAKVP VQRSEMVKVI
1060 1070 1080 1090 1100
LREYKDECLD IINRANNKLE CAFGYQLKEI DTKNHAYIII NKLGYHTGNL
1110 1120 1130 1140 1150
VASYLDRPKF GLLMVVLSLI FMKGNCVRED LIFNFLFKLG LDVRETNGLF
1160 1170 1180 1190 1200
GNTKKLITEV FVRQKYLEYR RIPYTEPAEY EFLWGPRAFL ETSKMLVLRF
1210 1220 1230 1240
LAKLHKKDPQ SWPFHYLEAL AECEWEDTDE DEPDTGDSAH GPTSRPPPR
Length:1,249
Mass (Da):132,822
Last modified:September 16, 2015 - v2
Checksum:i17AA2FB3F8477D82
GO

Sequence cautioni

The sequence AAG28577 differs from that shown. Reason: Frameshift at position 730.Curated
The sequence CAB62393 differs from that shown. Reason: Frameshift at position 730.Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC124309 Genomic DNA. No translation available.
AF200625 Genomic DNA. Translation: AAG28577.1. Frameshift.
AJ243531 mRNA. Translation: CAB62393.1. Frameshift.
CCDSiCCDS73700.1.
RefSeqiNP_061939.3. NM_019066.4.
UniGeneiHs.141496.

Genome annotation databases

EnsembliENST00000532292; ENSP00000433433; ENSG00000254585.
GeneIDi54551.
KEGGihsa:54551.
UCSCiuc001ywj.5. human.

Similar proteinsi

Entry informationi

Entry nameiMAGL2_HUMAN
AccessioniPrimary (citable) accession number: Q9UJ55
Secondary accession number(s): H0YDD5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: September 16, 2015
Last modified: September 27, 2017
This is version 92 of the entry and version 2 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 chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot