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. MARCH8 induces the internalization of several membrane glycoproteins (Goto et al., 2003 [PubMed 12582153]; Bartee et al., 2004... See more...

Aliases for MARCHF8 Gene

Aliases for MARCHF8 Gene

  • Membrane Associated Ring-CH-Type Finger 8 2 3 5
  • MARCH-VIII 2 3 4
  • RNF178 2 3 4
  • C-MIR 2 3 4
  • Membrane-Associated Ring Finger (C3HC4) 8, E3 Ubiquitin Protein Ligase 2 3
  • C-Mir, Cellular Modulator Of Immune Recognition 2 3
  • RING-Type E3 Ubiquitin Transferase MARCHF8 3 4
  • Membrane-Associated RING Finger Protein 8 3 4
  • Membrane-Associated RING-CH Protein VIII 3 4
  • E3 Ubiquitin-Protein Ligase MARCHF8 3 4
  • RING Finger Protein 178 3 4
  • MARCH8 3 4
  • CMIR 2 3
  • MIR 3 4
  • Cellular Modulator Of Immune Recognition (C-MIR) 3
  • Membrane-Associated Ring Finger (C3HC4) 8 2
  • RING-Type E3 Ubiquitin Transferase MARCH8 3
  • Cellular Modulator Of Immune Recognition 4
  • E3 Ubiquitin-Protein Ligase MARCH8 3
  • Membrane Associated Ring Finger 8 3
  • EC 2.3.2.27 4
  • EC 6.3.2 51
  • MARCHF8 5

External Ids for MARCHF8 Gene

Previous HGNC Symbols for MARCHF8 Gene

  • MIR
  • MARCH8

Previous GeneCards Identifiers for MARCHF8 Gene

  • GC10M045535
  • GC10M045552

Summaries for MARCHF8 Gene

Entrez Gene Summary for MARCHF8 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. MARCH8 induces the internalization of several membrane glycoproteins (Goto et al., 2003 [PubMed 12582153]; Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]

GeneCards Summary for MARCHF8 Gene

MARCHF8 (Membrane Associated Ring-CH-Type Finger 8) is a Protein Coding gene. Diseases associated with MARCHF8 include Hypothyroidism, Congenital, Nongoitrous, 6 and Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly. An important paralog of this gene is MARCHF1.

UniProtKB/Swiss-Prot Summary for MARCHF8 Gene

  • E3 ubiquitin-protein ligase that mediates ubiquitination of CD86 and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. May also promote ubiquitination and endocytosis of TFRC and FAS.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MARCHF8 Gene

Genomics for MARCHF8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MARCHF8 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J046028 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600 -435.5 -435506 4.8 BRCA1 ARHGAP35 HNRNPL CREB1 GATAD2A CTCF REST ZNF629 TFE3 ZNF512 LOC105378287 NCOA4 lnc-TIMM23-2 MARCHF8 AGAP4 AGAP7P piR-40844-001 TIMM23
GH10J045592 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 611.7 +0.9 905 3.2 ARHGAP35 SP1 CREB1 GATAD2A HNRNPL PRDM10 TFE3 RFX1 SIX5 NFKBIZ MARCHF8 lnc-ZFAND4-1 PARGP1 AGAP4 WASHC2C ZFAND4 ENSG00000273363 FAM21FP piR-60246-023 ALOX5
GH10J045560 Promoter/Enhancer 0.9 EPDnew Ensembl 622.5 +33.5 33505 2 CEBPA SOX13 TCF7 TCF7L2 ZNF766 FOXA2 HOMEZ NFIL3 SOX5 HLF MARCHF8 ZFAND4 WASHC2C ZNF22-AS1 piR-30188-021 lnc-ALOX5-1 lnc-ZFAND4-1 ALOX5
GH10J045535 Promoter 0.3 EPDnew 611.4 +59.5 59515 0.1 MARCHF8 piR-59769-064 piR-54764-055 lnc-ZFAND4-1 ALOX5
GH10J045595 Enhancer 0.3 Ensembl ENCODE 600.7 -1.6 -1608 1.5 MARCHF8 lnc-ZFAND4-1 ZFAND4 piR-58297-043
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MARCHF8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MARCHF8

Genomic Locations for MARCHF8 Gene

Genomic Locations for MARCHF8 Gene
chr10:45,454,585-45,594,906
(GRCh38/hg38)
Size:
140,322 bases
Orientation:
Minus strand
chr10:45,950,035-46,090,354
(GRCh37/hg19)
Size:
140,320 bases
Orientation:
Minus strand

Genomic View for MARCHF8 Gene

Genes around MARCHF8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MARCHF8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MARCHF8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MARCHF8 Gene

Proteins for MARCHF8 Gene

  • Protein details for MARCHF8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5T0T0-MARH8_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase MARCHF8
    Protein Accession:
    Q5T0T0
    Secondary Accessions:
    • B2R8E7
    • H0Y7C6
    • Q5T0S8
    • Q8TC72

    Protein attributes for MARCHF8 Gene

    Size:
    291 amino acids
    Molecular mass:
    32965 Da
    Quaternary structure:
    • Interacts with CD86.

    Three dimensional structures from OCA and Proteopedia for MARCHF8 Gene

    Alternative splice isoforms for MARCHF8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MARCHF8 Gene

Selected DME Specific Peptides for MARCHF8 Gene

Q5T0T0:
  • CTGSLHFVHQ
  • QDICRICHCEGD
  • FIMETKLKPLRKWEKLQMT
  • LEWPFWTKLVVVAIGFTGGL
  • RLKAYNRVI

Post-translational modifications for MARCHF8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for MARCHF8 Gene

Gene Families for MARCHF8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for MARCHF8 Gene

InterPro:
Blocks:
  • RINGv
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q5T0T0

UniProtKB/Swiss-Prot:

MARH8_HUMAN :
  • The RING-CH-type zinc finger domain is required for E3 ligase activity.
Domain:
  • The RING-CH-type zinc finger domain is required for E3 ligase activity.
genes like me logo Genes that share domains with MARCHF8: view

No data available for Suggested Antigen Peptide Sequences for MARCHF8 Gene

Function for MARCHF8 Gene

Molecular function for MARCHF8 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that mediates ubiquitination of CD86 and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. May also promote ubiquitination and endocytosis of TFRC and FAS.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27;.

Enzyme Numbers (IUBMB) for MARCHF8 Gene

Phenotypes From GWAS Catalog for MARCHF8 Gene

Gene Ontology (GO) - Molecular Function for MARCHF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IDA 14722266
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0042287 MHC protein binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MARCHF8: view
genes like me logo Genes that share phenotypes with MARCHF8: view

Animal Models for MARCHF8 Gene

MGI Knock Outs for MARCHF8:

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MARCHF8 Gene

Localization for MARCHF8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARCHF8 Gene

Cytoplasmic vesicle membrane. Multi-pass membrane protein. Lysosome membrane. Multi-pass membrane protein. Early endosome membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MARCHF8 gene
Compartment Confidence
endosome 5
lysosome 5
plasma membrane 3
cytosol 3
extracellular 2
nucleus 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MARCHF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005764 lysosome IBA,IDA 14722266
GO:0005765 lysosomal membrane IEA --
GO:0005768 endosome IEA,IDA 14722266
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MARCHF8: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MARCHF8 Gene

Pathways & Interactions for MARCHF8 Gene

PathCards logo

SuperPathways for MARCHF8 Gene

No Data Available

UniProtKB/Swiss-Prot Q5T0T0-MARH8_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for MARCHF8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 19117940
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0002495 antigen processing and presentation of peptide antigen via MHC class II IBA 21873635
GO:0006955 immune response IBA 21873635
genes like me logo Genes that share ontologies with MARCHF8: view

No data available for Pathways by source and SIGNOR curated interactions for MARCHF8 Gene

Drugs & Compounds for MARCHF8 Gene

(3) Drugs for MARCHF8 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Adenosine monophosphate Approved, Investigational Nutra 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

(1) Additional Compounds for MARCHF8 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with MARCHF8: view

Transcripts for MARCHF8 Gene

mRNA/cDNA for MARCHF8 Gene

4 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MARCHF8 Gene

No ASD Table

Relevant External Links for MARCHF8 Gene

GeneLoc Exon Structure for
MARCHF8

Expression for MARCHF8 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MARCHF8

SOURCE GeneReport for Unigene cluster for MARCHF8 Gene:

Hs.499489

mRNA Expression by UniProt/SwissProt for MARCHF8 Gene:

Q5T0T0-MARH8_HUMAN
Tissue specificity: Broadly expressed. Present in immature dendritic cells (at protein level).

Evidence on tissue expression from TISSUES for MARCHF8 Gene

  • Nervous system(4.1)
  • Lung(2.9)
  • Spleen(2.5)
  • Lymph node(2.5)
  • Kidney(2.5)
  • Liver(2.4)
  • Blood(2.4)
  • Heart(2.3)
  • Skin(2.3)
  • Intestine(2.2)
  • Bone marrow(2.1)
  • Muscle(2.1)
  • Stomach(2)

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for MARCHF8 Gene

Orthologs for MARCHF8 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for MARCHF8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MARCH8 30 31
  • 99.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MARCH8 30 31
  • 90.1 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia March8 30 31
  • 88.35 (n)
OneToOne
Marchf8 17
Rat
(Rattus norvegicus)
Mammalia March8 30
  • 88 (n)
Dog
(Canis familiaris)
Mammalia MARCH8 30 31
  • 87.46 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MARCH8 31
  • 45 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MARCH8 31
  • 33 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MARCH8 30 31
  • 76.38 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MARCH8 31
  • 41 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia march8 30
  • 74.11 (n)
Str.8463 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.8458 30
Zebrafish
(Danio rerio)
Actinopterygii march8 30 31
  • 74.6 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG4080 31
  • 17 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSM4 31
  • 4 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 53 (a)
OneToMany
Species where no ortholog for MARCHF8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MARCHF8 Gene

ENSEMBL:
Gene Tree for MARCHF8 (if available)
TreeFam:
Gene Tree for MARCHF8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MARCHF8: view image

Paralogs for MARCHF8 Gene

Paralogs for MARCHF8 Gene

Pseudogenes.org Pseudogenes for MARCHF8 Gene

genes like me logo Genes that share paralogs with MARCHF8: view

Variants for MARCHF8 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MARCHF8 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
rs3764990 - p.Pro92Ser
rs7908745 - p.Tyr266His

Additional dbSNP identifiers (rs#s) for MARCHF8 Gene

Structural Variations from Database of Genomic Variants (DGV) for MARCHF8 Gene

Variant ID Type Subtype PubMed ID
dgv211e212 CNV loss 25503493
dgv730n100 CNV loss 25217958
esv2736141 CNV deletion 23290073
esv2761592 CNV loss 21179565
esv3578791 CNV loss 25503493
esv3578792 CNV loss 25503493
esv3623092 CNV loss 21293372
esv3623093 CNV loss 21293372
esv3623094 CNV loss 21293372
esv3623095 CNV loss 21293372
esv3623096 CNV loss 21293372
esv3623097 CNV loss 21293372
esv3891797 CNV gain 25118596
nsv1043536 CNV gain 25217958
nsv1161941 OTHER complex 26073780
nsv442178 CNV loss 18776908
nsv528750 CNV loss 19592680
nsv6532 CNV insertion 18451855

Variation tolerance for MARCHF8 Gene

Residual Variation Intolerance Score: 39.9% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MARCHF8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MARCHF8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MARCHF8 Gene

Disorders for MARCHF8 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MARCHF8 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with MARCHF8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MARCHF8 Gene

Publications for MARCHF8 Gene

  1. c-MIR, a human E3 ubiquitin ligase, is a functional homolog of herpesvirus proteins MIR1 and MIR2 and has similar activity. (PMID: 12582153) Goto E … Hotta H (The Journal of biological chemistry 2003) 2 3 4 23
  2. Downregulation of major histocompatibility complex class I by human ubiquitin ligases related to viral immune evasion proteins. (PMID: 14722266) Bartee E … Früh K (Journal of virology 2004) 2 3 4
  3. The HLA-DRalpha chain is modified by polyubiquitination. (PMID: 19117940) Lapaque N … Kelly AP (The Journal of biological chemistry 2009) 3 4
  4. Interleukin-10-induced MARCH1 mediates intracellular sequestration of MHC class II in monocytes. (PMID: 18389477) Thibodeau J … Steimle V (European journal of immunology 2008) 4 23
  5. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4

Products for MARCHF8 Gene

Sources for MARCHF8 Gene