MARCH9 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. MARCH9 induces internalization of several membrane glycoproteins and directs them to the endosomal compartment (Bartee et al.,... See more...

Aliases for MARCHF9 Gene

Aliases for MARCHF9 Gene

  • Membrane Associated Ring-CH-Type Finger 9 2 3 5
  • RNF179 2 3 4
  • RING-Type E3 Ubiquitin Transferase MARCHF9 3 4
  • Membrane-Associated Ring Finger (C3HC4) 9 2 3
  • Membrane-Associated RING Finger Protein 9 3 4
  • Membrane-Associated RING-CH Protein IX 3 4
  • E3 Ubiquitin-Protein Ligase MARCHF9 3 4
  • RING Finger Protein 179 3 4
  • MARCH-IX 3 4
  • MARCH9 3 4
  • RING-Type E3 Ubiquitin Transferase MARCH9 3
  • E3 Ubiquitin-Protein Ligase MARCH9 3
  • Membrane Associated Ring Finger 9 3
  • EC 2.3.2.27 4
  • FLJ36578 2
  • MARCHF9 5

External Ids for MARCHF9 Gene

Previous HGNC Symbols for MARCHF9 Gene

  • MARCH9

Summaries for MARCHF9 Gene

Entrez Gene Summary for MARCHF9 Gene

  • MARCH9 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. MARCH9 induces internalization of several membrane glycoproteins and directs them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Hoer et al., 2007 [PubMed 17174307]).[supplied by OMIM, Apr 2010]

GeneCards Summary for MARCHF9 Gene

MARCHF9 (Membrane Associated Ring-CH-Type Finger 9) is a Protein Coding gene. Diseases associated with MARCHF9 include Pelizaeus-Merzbacher Disease. An important paralog of this gene is MARCHF4.

UniProtKB/Swiss-Prot Summary for MARCHF9 Gene

  • E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I, CD4 and ICAM1, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates.

Additional gene information for MARCHF9 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MARCHF9 Gene

Genomics for MARCHF9 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MARCHF9 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MARCHF9 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MARCHF9

Genomic Locations for MARCHF9 Gene

Genomic Locations for MARCHF9 Gene
chr12:57,755,103-57,760,411
(GRCh38/hg38)
Size:
5,309 bases
Orientation:
Plus strand
chr12:58,148,881-58,154,190
(GRCh37/hg19)
Size:
5,310 bases
Orientation:
Plus strand

Genomic View for MARCHF9 Gene

Genes around MARCHF9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MARCHF9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MARCHF9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MARCHF9 Gene

Proteins for MARCHF9 Gene

  • Protein details for MARCHF9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86YJ5-MARH9_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase MARCHF9
    Protein Accession:
    Q86YJ5
    Secondary Accessions:
    • B2R9U9
    • Q86VN5
    • Q96GG2

    Protein attributes for MARCHF9 Gene

    Size:
    346 amino acids
    Molecular mass:
    37772 Da
    Quaternary structure:
    • Homodimer.
    SequenceCaution:
    • Sequence=AAH50397.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 2]: Has no E3 activity due to lack of RINGv-type zinc finger domain but is able to dimerize with and stabilize isoform 1.

    Alternative splice isoforms for MARCHF9 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MARCHF9 Gene

Post-translational modifications for MARCHF9 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MARCHF9 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for MARCHF9 Gene

Domains & Families for MARCHF9 Gene

Gene Families for MARCHF9 Gene

Protein Domains for MARCHF9 Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • RINGv
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q86YJ5

UniProtKB/Swiss-Prot:

MARH9_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 MARCHF9: view

No data available for Suggested Antigen Peptide Sequences for MARCHF9 Gene

Function for MARCHF9 Gene

Molecular function for MARCHF9 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that may mediate ubiquitination of MHC-I, CD4 and ICAM1, and promote their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. E3 ubiquitin ligases accept ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfer the ubiquitin to targeted substrates.
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 MARCHF9 Gene

Phenotypes From GWAS Catalog for MARCHF9 Gene

Gene Ontology (GO) - Molecular Function for MARCHF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MARCHF9: view
genes like me logo Genes that share phenotypes with MARCHF9: view

Animal Models for MARCHF9 Gene

MGI Knock Outs for MARCHF9:
  • Marchf9 Marchf9<tm1a(EUCOMM)Wtsi>

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MARCHF9 Gene

Localization for MARCHF9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARCHF9 Gene

Golgi apparatus membrane. Multi-pass membrane protein. Lysosome 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 MARCHF9 gene
Compartment Confidence
golgi apparatus 5
lysosome 4
plasma membrane 2
mitochondrion 2
endoplasmic reticulum 2
endosome 2
extracellular 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for MARCHF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane IEA --
GO:0005764 lysosome IEA --
GO:0005765 lysosomal membrane IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005795 Golgi stack IDA 14722266
genes like me logo Genes that share ontologies with MARCHF9: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MARCHF9 Gene

Pathways & Interactions for MARCHF9 Gene

PathCards logo

SuperPathways for MARCHF9 Gene

No Data Available

UniProtKB/Swiss-Prot Q86YJ5-MARH9_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for MARCHF9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with MARCHF9: view

No data available for Pathways by source and SIGNOR curated interactions for MARCHF9 Gene

Drugs & Compounds for MARCHF9 Gene

(3) Drugs for MARCHF9 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 MARCHF9 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 MARCHF9: view

Transcripts for MARCHF9 Gene

mRNA/cDNA for MARCHF9 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MARCHF9 Gene

No ASD Table

Relevant External Links for MARCHF9 Gene

GeneLoc Exon Structure for
MARCHF9

Expression for MARCHF9 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MARCHF9

SOURCE GeneReport for Unigene cluster for MARCHF9 Gene:

Hs.632709

mRNA Expression by UniProt/SwissProt for MARCHF9 Gene:

Q86YJ5-MARH9_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for MARCHF9 Gene

  • Nervous system(4.4)
  • Lung(4.2)
  • Lymph node(2.1)
  • Spleen(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 MARCHF9 Gene

Orthologs for MARCHF9 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MARCHF9 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MARCH9 30 31
  • 99.61 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MARCH9 30 31
  • 95.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MARCH9 30 31
  • 94.03 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia March9 30
  • 92.1 (n)
Mouse
(Mus musculus)
Mammalia March9 30 31
  • 91.81 (n)
OneToOne
Marchf9 17
Oppossum
(Monodelphis domestica)
Mammalia MARCH9 31
  • 89 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MARCH9 31
  • 66 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia march9 30
  • 70.93 (n)
Zebrafish
(Danio rerio)
Actinopterygii march9 30 31
  • 70.42 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 27 (a)
OneToMany
Species where no ortholog for MARCHF9 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • 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 MARCHF9 Gene

ENSEMBL:
Gene Tree for MARCHF9 (if available)
TreeFam:
Gene Tree for MARCHF9 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MARCHF9: view image

Paralogs for MARCHF9 Gene

Paralogs for MARCHF9 Gene

genes like me logo Genes that share paralogs with MARCHF9: view

Variants for MARCHF9 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MARCHF9 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs17850517 - p.Thr307Pro
rs17856312 - p.Gln257His

Additional dbSNP identifiers (rs#s) for MARCHF9 Gene

Structural Variations from Database of Genomic Variants (DGV) for MARCHF9 Gene

Variant ID Type Subtype PubMed ID
nsv1069673 CNV deletion 25765185
nsv1126317 CNV deletion 24896259
nsv470296 CNV loss 18288195
nsv470297 CNV gain 18288195
nsv510601 CNV deletion 20534489
nsv559045 CNV loss 21841781
nsv826384 CNV gain 20364138
nsv826386 CNV gain 20364138

Variation tolerance for MARCHF9 Gene

Residual Variation Intolerance Score: 52% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MARCHF9 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MARCHF9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MARCHF9 Gene

Disorders for MARCHF9 Gene

MalaCards: The human disease database

(1) MalaCards diseases for MARCHF9 Gene - From: DISEASES

Disorder Aliases PubMed IDs
pelizaeus-merzbacher disease
  • pmd
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with MARCHF9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MARCHF9 Gene

Publications for MARCHF9 Gene

  1. 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 23
  2. MARCH-IX mediates ubiquitination and downregulation of ICAM-1. (PMID: 17174307) Hoer S … Lehner PJ (FEBS letters 2007) 3 4
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  5. A serine in the first transmembrane domain of the human E3 ubiquitin ligase MARCH9 is critical for down-regulation of its protein substrates. (PMID: 30554144) Tan C … Call ME (The Journal of biological chemistry 2019) 3

Products for MARCHF9 Gene

Sources for MARCHF9 Gene