MARCHF4 (membrane associated ring-CH-type finger 4)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
57574
Gene name Gene Name - the full gene name approved by the HGNC.
Membrane associated ring-CH-type finger 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MARCHF4
Synonyms (NCBI Gene) Gene synonyms aliases
MARCH-IV, MARCH4, RNF174
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q35
Summary Summary of gene provided in NCBI Entrez Gene.
MARCH4 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(17)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0004842 Function Ubiquitin-protein transferase activity IBA
GO:0004842 Function Ubiquitin-protein transferase activity IDA 14722266
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005794 Component Golgi apparatus 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
608208 29269 ENSG00000144583
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9P2E8
Protein name E3 ubiquitin-protein ligase MARCHF4 (EC 2.3.2.27) (Membrane-associated RING finger protein 4) (Membrane-associated RING-CH protein IV) (MARCH-IV) (RING finger protein 174) (RING-type E3 ubiquitin transferase MARCHF4)
Protein function E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I and CD4, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enz
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF12906 RINGv 163 → 208 RING-variant domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in brain and placenta. {ECO:0000269|PubMed:14722266}.
Sequence 
MLMPLCGLLWWWWCCCSGWYCYGLCAPAPQMLRHQGLLKCRCRMLFNDLKVFLLRRPPQA
PLPMHGDPQPPGLAANNTLPALGAGGWAGWRGPREVVGREPPPVPPPPPLPPSSVEDDWG
GPATEPPASLLSSASSDDFCKEKTEDRYSLGSSLDSGMRTPLCRICFQGPEQGELLSPCR
CDGSVKCTHQPCLIKWISERGCWSCELCYYKYHVIAISTKNPLQWQAISLTVIEKVQVAA
AILGSLFLIASISWLIWSTFSPSARWQRQDLLFQICYGMYGFMDVVCIGLIIHEGPSVYR
IFKRWQAVNQQWKVLNYDKTKDLEDQKAGGRTNPRTSSSTQANIPSSEEETAGTPAPEQG
PAQAAGHPSGPLSHHHCAYTILHILSHLRPHEQRSPPGSSRELVMRVTTV
Sequence length 410
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
Frontotemporal dementia frontotemporal dementia N/A N/A ClinVar
Oligodendroglioma Oligodendroglioma N/A N/A GWAS