MARCHF6 (membrane associated ring-CH-type finger 6)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 10299
Gene name Membrane associated ring-CH-type finger 6
Gene symbol MARCHF6
Synonyms (NCBI Gene)
DOA10FAME3FCMTE3MARCH-VIMARCH6RNF176TEB4
Chromosome 5
Chromosome location 5p15.2
Summary This gene encodes a member of a family of membrane-associated E3 ubiquitin ligases containing RING-CH-type zinc finger motifs. Ubiquitination of type II deiodinase by the encoded protein is an important regulatory step in thyroid hormone signalling. Alter
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (33)
GO ID Ontology Definition Evidence Reference
GO:0000835 Component ER ubiquitin ligase complex IC 15673284
GO:0004842 Function Ubiquitin-protein transferase activity IDA 15673284
GO:0004842 Function Ubiquitin-protein transferase activity IMP 19651899
GO:0005515 Function Protein binding IPI 25766235, 32296183
GO:0005783 Component Endoplasmic reticulum IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613297 30550 ENSG00000145495
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60337
Protein name E3 ubiquitin-protein ligase MARCHF6 (EC 2.3.2.27) (Doa10 homolog) (Membrane-associated RING finger protein 6) (Membrane-associated RING-CH protein VI) (MARCH-VI) (Protein TEB-4) (RING finger protein 176) (RING-type E3 ubiquitin transferase MARCHF6)
Protein function Endoplasmic reticulum membrane-associated E3 ubiquitin ligase that plays a critical role in mitigating endoplasmic reticulum stress, the regulation of cholesterol and lipid homeostasis, and ferroptosis (PubMed:25088257, PubMed:35941365, PubMed:3
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12906 RINGv 9 → 55 RING-variant domain Domain
Tissue specificity TISSUE SPECIFICITY: Present in brain (at protein level). {ECO:0000269|PubMed:15673284}.
Sequence 
MDTAEEDICRVCRSEGTPEKPLYHPCVCTGSIKFIHQECLVQWLKHSRKEYCELCKHRFA
FTPIYSPDMPSRLPIQDIFAGLVTSIGTAIRYWFHYTLVAFAWLGVVPLTACRIYKCLFT
GSVSSLLTLPLDMLSTENLLADCLQGCFVVTCTLCAFISLVWLREQIVHGGAPIWLEHAA
PPFNAAGHHQNEAPAGGNGAENVAADQPANPPAENAVVGENPDAQDDQAEEEEEDNEEED
DAGVEDAADANNGAQDDMNWNALEWDRAAEELTWERMLGLDGSLVFLEHVFWVVSLNTLF
ILVFAFCPYHIGHFSLVGLGFEEHVQASHFEGLITTIVGYILLAITLIICHGLATLVKFH
RSRRLLGVCYIVVKVSLLVVVEIGVFPLICGWWLDICSLEMFDATLKDRELSFQSAPGTT
MFLHWLVGMVYVFYFASFILLLREVLRPGVLWFLRNLNDPDFNPVQEMIHLPIYRHLRRF
ILSVIVFGSIVLLMLWLPIRIIKSVLPNFLPYNVMLYSDAPVSELSLELLLLQVVLPALL
EQGHTRQWLKGLVRAWTVTAGYLLDLHSYLLGDQEENENSANQQVNNNQHARNNNAIPVV
GEGLHAAHQAILQQGGPVGFQPYRRPLNFPLRIFLLIVFMCITLLIASLICLTLPVFAGR
WLMSFWTGTAKIHELYTAACGLYVCWLTIRAVTVMVAWMPQGRRVIFQKVKEWSLMIMKT
LIVAVLLAGVVPLLLGLLFELVIVAPLRVPLDQTPLFYPWQDWALGVLHAKIIAAITLMG
PQWWLKTVIEQVYANGIRNIDLHYIVRKLAAPVISVLLLSLCVPYVIASGVVPLLGVTAE
MQNLVHRRIYPFLLMVVVLMAILSFQVRQFKRLYEHIKNDKYLVGQRLVNYERKSGKQGS
SPPPPQSSQE
Sequence length 910
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Protein processing in endoplasmic reticulum   ER Quality Control Compartment (ERQC)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Epilepsy, familial adult myoclonic, 3 Uncertain significance rs2126759091, rs2478034256 RCV002266732
RCV003990830
Malignant lymphoma, large B-cell, diffuse Uncertain significance rs762685475 RCV005937560
MARCHF6-related disorder Likely benign rs201645809 RCV003956812
Show/Hide Text Mining Associations (1)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Lymphoma Non Hodgkin Associate 19103148