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Protein

Melanoma-associated antigen F1

Gene

MAGEF1

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

Functioni

Enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin ligases. Proposed to act through recruitment and/or stabilization of the E2 ubiquitin-conjugating enzyme at the E3:substrate complex. MAGEF1-NSMCE1 ubiquitin ligase complex promotes proteasomal degradation of MMS19, a key component of the cytosolic iron-sulfur protein assembly (CIA) machinery. Down-regulation of MMS19 impairs the activity of several DNA repair and metabolism enzymes such as ERCC2/XPD, FANCJ, RTEL1 and POLD1 that require iron-sulfur clusters as cofactors. May negatively regulate genome integrity by inhibiting homologous recombination-mediated double-strand break DNA repair (PubMed:29225034).2 Publications

GO - Biological processi

  • negative regulation of double-strand break repair via homologous recombination Source: UniProtKB
  • positive regulation of ubiquitin-dependent protein catabolic process Source: UniProtKB
  • protein maturation by iron-sulfur cluster transfer Source: UniProtKB
  • protein ubiquitination Source: UniProtKB

Keywordsi

Molecular functionTumor antigen
Biological processUbl conjugation pathway

Names & Taxonomyi

Protein namesi
Recommended name:
Melanoma-associated antigen F1Curated
Short name:
MAGE-F12 Publications
Alternative name(s):
MAGE-F1 antigen
Gene namesi
Name:MAGEF1Imported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 3

Organism-specific databases

EuPathDBiHostDB:ENSG00000177383.4
HGNCiHGNC:29639 MAGEF1
MIMi609267 gene
neXtProtiNX_Q9HAY2

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi87 – 88Missing : Loss of interaction with NSMCE1. 1 Publication2

Organism-specific databases

OpenTargetsiENSG00000177383
PharmGKBiPA134920978

Polymorphism and mutation databases

BioMutaiMAGEF1
DMDMi300669649

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001567321 – 307Melanoma-associated antigen F1Add BLAST307

Proteomic databases

EPDiQ9HAY2
PaxDbiQ9HAY2
PeptideAtlasiQ9HAY2
PRIDEiQ9HAY2

PTM databases

iPTMnetiQ9HAY2
PhosphoSitePlusiQ9HAY2

Expressioni

Tissue specificityi

Ubiquitous.1 Publication

Gene expression databases

BgeeiENSG00000177383
CleanExiHS_MAGEF1
GenevisibleiQ9HAY2 HS

Organism-specific databases

HPAiHPA046899
HPA054190

Interactioni

Subunit structurei

Interacts (via MAGE domain) with RING-type zinc finger-containing E3 ubiquitin-protein ligases LNX1, TRIM27 and NSMCE1; the interaction is direct.2 Publications

Binary interactionsi

WithEntry#Exp.IntActNotes
MDFIQ997503EBI-5525855,EBI-724076

Protein-protein interaction databases

BioGridi122067, 12 interactors
IntActiQ9HAY2, 6 interactors
STRINGi9606.ENSP00000315064

Structurei

3D structure databases

ProteinModelPortaliQ9HAY2
SMRiQ9HAY2
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini76 – 277MAGEPROSITE-ProRule annotationAdd BLAST202

Phylogenomic databases

eggNOGiKOG4562 Eukaryota
ENOG4111S70 LUCA
GeneTreeiENSGT00760000118824
HOGENOMiHOG000231161
HOVERGENiHBG006315
InParanoidiQ9HAY2
OMAiGYPKRLI
OrthoDBiEOG091G0TJ0
PhylomeDBiQ9HAY2
TreeFamiTF328505

Family and domain databases

InterProiView protein in InterPro
IPR037445 MAGE
IPR002190 MHD_dom
PANTHERiPTHR11736 PTHR11736, 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

Sequencei

Sequence statusi: Complete.

Q9HAY2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MLQTPESRGL PVPQAEGEKD GGHDGETRAP TASQERPKEE LGAGREEGAA
60 70 80 90 100
EPALTRKGAR ALAAKALARR RAYRRLNRTV AELVQFLLVK DKKKSPITRS
110 120 130 140 150
EMVKYVIGDL KILFPDIIAR AAEHLRYVFG FELKQFDRKH HTYILINKLK
160 170 180 190 200
PLEEEEEEDL GGDGPRLGLL MMILGLIYMR GNSAREAQVW EMLRRLGVQP
210 220 230 240 250
SKYHFLFGYP KRLIMEDFVQ QRYLSYRRVP HTNPPEYEFS WGPRSNLEIS
260 270 280 290 300
KMEVLGFVAK LHKKEPQHWP VQYREALADE ADRARAKARA EASMRARASA

RAGIHLW
Length:307
Mass (Da):35,222
Last modified:July 13, 2010 - v2
Checksum:i8CB673B3FF7921EE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti66A → S in AAG30208 (PubMed:11313144).Curated1
Sequence conflicti66A → S in AAG38606 (PubMed:16641997).Curated1
Sequence conflicti66A → S in AAH10056 (PubMed:15489334).Curated1
Sequence conflicti158E → EE in AAG30208 (PubMed:11313144).Curated1
Sequence conflicti158E → EE in AAG38606 (PubMed:16641997).Curated1
Sequence conflicti158E → EE in AAH10056 (PubMed:15489334).Curated1
Sequence conflicti236E → A in AAG30208 (PubMed:11313144).Curated1
Sequence conflicti236E → A in AAG38606 (PubMed:16641997).Curated1
Sequence conflicti236E → A in AAH10056 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05765193K → R. Corresponds to variant dbSNP:rs34540780Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF295378 mRNA Translation: AAG30208.1
AC107294 Genomic DNA No translation available.
BC010056 mRNA Translation: AAH10056.1
AF320910 mRNA Translation: AAG38606.1
CCDSiCCDS3269.1
RefSeqiNP_071432.2, NM_022149.4
UniGeneiHs.306123

Genome annotation databases

EnsembliENST00000317897; ENSP00000315064; ENSG00000177383
GeneIDi64110
KEGGihsa:64110
UCSCiuc003fpa.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiMAGF1_HUMAN
AccessioniPrimary (citable) accession number: Q9HAY2
Secondary accession number(s): Q9H215
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 2, 2001
Last sequence update: July 13, 2010
Last modified: May 23, 2018
This is version 114 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 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  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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