MAGEL2
entrez
54551
canonical
uniprot
Q9UJ55
canonical
ensembl
ENSG00000254585
resolver
ensembl
ENSG00000288188
resolver
ensp
ENSP00000497810
resolver
ensp
ENSP00000499864
resolver
ensp
ENSP00000500572
resolver
enst
ENST00000650528
resolver
enst
ENST00000672700
resolver
enst
ENST00000673192
resolver
genesymbol
MAGEL2
resolver
genesymbol_syn
NDNL1
resolver
hgnc
HGNC:6814
resolver
uniprot
H0YDD5
resolver
uniprot_entry
MAGL2_HUMAN
resolver
uniprot_sec
H0YDD5
resolver
amino_acid_sequence
MSQLSKNLGDSSPPAEAPKPPVYSRPTVLMRAPPASSRAPPVPWDPPPIDLQASLAAWQAPQPAWEAPQGQLPAPVVPMTQPPALGGPIVPAPPLGGPMGKPPTPGVLMVHPPPPGAPMAQPPTPGVLMVHPSAPGAPMAHPPPPGTPMSHPPPPGTPMAHPPPPGTPMAHPPPPGTPMVHPPPPGTPMAHPPPPGTPMAHPPPPGTPMAHPPPPGTPMAHPPPPGTPMAQPPAPGVLMAQPLTPGVLMVQPAAPGAPMVQPPPAAMMTQPQPSGAPMAKPPGPGVLMIHPPGARAPMTQPPASGAPMAQPAAPPAQPMAPPAQPMASWAPQAQPLILQIQSQVIRAPPQVPQGPQAPPAQLATPPGWQATSPGWQATQQGWQATPLTWQTTQVTWQAPAVTWQVPPPMRQGPPPIRPGPPPIRPGPPPVRQAPPLIRQAPPVIRQAPPVIRQAPPVIRQAPAVIRQAPPVIRQAPPVIRQAPPVIRQAPPLIRQAPPPIRPAPQVLATQPPLWQALPPPPPLRQAPQARLPAPQVQAAPQVPTAPPATQVPAAPPAGPQVPQPVLPAPLSAPLSAPQAVHCPSIIWQAPKGQPPVPHEIPTSMEFQEVQQTQALAWQAQKAPTHIWQPLPAQEAQRQAPPLVQLEQPFQGAPPSQKAVQIQLPPQQAQASGPQAEVPTLPLQPSWQAPPAVLQAQPGPPVAAANFPLGSAKSLMTPSGECRASSIDRRGSSKERRTSSKERRAPSKDRMIFAATFCAPKAVSAARAHLPAAWKNLPATPETFAPSSSVFPATSQFQPASLNAFKGPSAASETPKSLPYALQDPFACVEALPAVPWVPQPNMNASKASQAVPTFLMATAAAPQATATTQEASKTSVEPPRRSGKATRKKKHLEAQEDSRGHTLAFHDWQGPRPWENLNLSDWEVQSPIQVSGDWEHPNTPRGLSGWEGPSTSRILSGWEGPSASWALSAWEGPSTSRALGLSESPGSSLPVVVSEVASVSPGSSATQDNSKVEAQPLSPLDERANALVQFLLVKDQAKVPVQRSEMVKVILREYKDECLDIINRANNKLECAFGYQLKEIDTKNHAYIIINKLGYHTGNLVASYLDRPKFGLLMVVLSLIFMKGNCVREDLIFNFLFKLGLDVRETNGLFGNTKKLITEVFVRQKYLEYRRIPYTEPAEYEFLWGPRAFLETSKMLVLRFLAKLHKKDPQSWPFHYLEALAECEWEDTDEDEPDTGDSAHGPTSRPPPR
uniprot
proteins
disease_involvement
DISEASE: Schaaf-Yang syndrome (SHFYNG) [MIM:615547]: A 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. {ECO:0000269|PubMed:24076603}. Note=The disease is caused by variants affecting the gene represented in this entry. All mutations occurred on the paternal allele.
uniprot
proteins
function
FUNCTION: 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-BMAL1 heterodimer. Significantly promotes the cytoplasmic accumulation of CLOCK (By similarity). {ECO:0000250|UniProtKB:Q9QZ04, ECO:0000269|PubMed:20864041, ECO:0000269|PubMed:23452853}.
uniprot
proteins
mass_dalton
132822
uniprot
proteins
pubmed
10556298
uniprot
proteins
pubmed
10915770
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
20864041
uniprot
proteins
pubmed
23452853
uniprot
proteins
pubmed
24076603
uniprot
proteins
pubmed
26365382
uniprot
proteins
sequence_length
1249
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Early endosome {ECO:0000269|PubMed:23452853}. Cytoplasm {ECO:0000250|UniProtKB:Q9QZ04}. Nucleus {ECO:0000250|UniProtKB:Q9QZ04}. Note=Recruited to retromer-containing endosomes via interaction with VPS35. Colocalizes with CLOCK and BMAL1 in the cytoplasm, and with PER2 in the cytoplasm and nucleus (By similarity). {ECO:0000250|UniProtKB:Q9QZ04, ECO:0000269|PubMed:23452853}.
uniprot
proteins