MARCHF8 (membrane associated ring-CH-type finger 8)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
220972
Gene name Gene Name - the full gene name approved by the HGNC.
Membrane associated ring-CH-type finger 8
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MARCHF8
Synonyms (NCBI Gene) Gene synonyms aliases
CMIR, MARCH-VIII, MARCH8, MIR, RNF178, c-MIR
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q11.21-q11.22
Summary Summary of gene provided in NCBI Entrez Gene.
MARCH8 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. M
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(33)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000209 Process Protein polyubiquitination IBA
GO:0000209 Process Protein polyubiquitination IDA 19117940
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
613335 23356 ENSG00000165406
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q5T0T0
Protein name E3 ubiquitin-protein ligase MARCHF8 (EC 2.3.2.27) (Cellular modulator of immune recognition) (c-MIR) (Membrane-associated RING finger protein 8) (Membrane-associated RING-CH protein VIII) (MARCH-VIII) (RING finger protein 178) (RING-type E3 ubiquitin tran
Protein function E3 ubiquitin-protein ligase that plays several important roles in innate immunity and adaptive immunity (PubMed:34285233, PubMed:35019698, PubMed:35503863). Mediates ubiquitination of CD86 and MHC class II proteins, such as HLA-DR alpha and beta
PDB 2D8S
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12906 RINGv 80 → 126 RING-variant domain Domain
Tissue specificity TISSUE SPECIFICITY: Broadly expressed. Present in immature dendritic cells (at protein level). {ECO:0000269|PubMed:12582153, ECO:0000269|PubMed:14722266}.
Sequence 
MSMPLHQISAIPSQDAISARVYRSKTKEKEREEQNEKTLGHFMSHSSNISKAGSPPSASA
PAPVSSFSRTSITPSSQDICRICHCEGDDESPLITPCHCTGSLHFVHQACLQQWIKSSDT
RCCELCKYEFIMETKLKPLRKWEKLQMTSSERRKIMCSVTFHVIAITCVVWSLYVLIDRT
AEEIKQGQATGILEWPFWTKLVVVAIGFTGGLLFMYVQCKVYVQLWKRLKAYNRVIYVQN
CPETSKKNIFEKSPLTEPNFENKHGYGICHSDTNSSCCTEPEDTGAEIIHV
Sequence length 291
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cholelithiasis Cholelithiasis N/A N/A GWAS
Prostate cancer Prostate cancer N/A N/A GWAS
Show/Hide Text Mining Associations (32)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33627711, 35603556
Adrenocortical Carcinoma Associate 24238045
Aortic Dissection Associate 36653806
Carcinogenesis Associate 36282188
Carcinoma Non Small Cell Lung Associate 28141816
Carcinoma Ovarian Epithelial Associate 30475821
Carcinoma Renal Cell Associate 26497752
Cataract Associate 24138095
Colorectal Neoplasms Associate 27460529
Colorectal Neoplasms Hereditary Nonpolyposis Associate 36282188