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

Gene
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
10299
Gene name Gene Name - the full gene name approved by the HGNC.
Membrane associated ring-CH-type finger 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MARCHF6
Synonyms (NCBI Gene) Gene synonyms aliases
DOA10, FAME3, FCMTE3, MARCH-VI, MARCH6, RNF176, TEB4
Disease Acronyms (UniProt) Disease acronyms from UniProt database
FAME3
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5p15.2
Summary Summary of gene provided in NCBI Entrez Gene.
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 information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
613297 30550 ENSG00000145495
Protein
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Myoclonic epilepsy EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3 rs267607103, rs267607104, rs147484110, rs74315442, rs74315443, rs121909346, rs121918622, rs121918623, rs121917954, rs121917955, rs1574272192, rs121918624, rs121918625, rs121918628, rs121918629
View all (378 more)
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Benign Myoclonic Epilepsy benign adult familial myoclonic epilepsy GenCC
Glioblastoma Glioblastoma CRISPR screening of E3 ubiquitin ligases reveals Ring Finger Protein 185 as a novel tumor suppressor in glioblastoma repressed by promoter hypermethylation and miR-587 GWAS, CBGDA
Show/Hide Text Mining Associations (1)
Associations from Text Mining
Disease Name Relationship Type References
Lymphoma Non Hodgkin Associate 19103148