MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and... See more...

Aliases for MARCHF1 Gene

Aliases for MARCHF1 Gene

  • Membrane Associated Ring-CH-Type Finger 1 2 3 5
  • MARCH-I 2 3 4
  • RNF171 2 3 4
  • Membrane-Associated Ring Finger (C3HC4) 1, E3 Ubiquitin Protein Ligase 2 3
  • RING-Type E3 Ubiquitin Transferase MARCHF1 3 4
  • Membrane-Associated RING Finger Protein 1 3 4
  • Membrane-Associated RING-CH Protein I 3 4
  • E3 Ubiquitin-Protein Ligase MARCHF1 3 4
  • RING Finger Protein 171 3 4
  • MARCH1 3 4
  • Membrane-Associated Ring Finger (C3HC4) 1 2
  • RING-Type E3 Ubiquitin Transferase MARCH1 3
  • E3 Ubiquitin-Protein Ligase MARCH1 3
  • Membrane Associated Ring Finger 1 3
  • EC 2.3.2.27 4
  • FLJ20668 2
  • EC 6.3.2 51
  • MARCHF1 5

External Ids for MARCHF1 Gene

Previous HGNC Symbols for MARCHF1 Gene

  • MARCH1

Summaries for MARCHF1 Gene

Entrez Gene Summary for MARCHF1 Gene

  • MARCH1 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH proteins add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH1 downregulates the surface expression of major histocompatibility complex (MHC) class II molecules (see MIM 142880) and other glycoproteins by directing them to the late endosomal/lysosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Thibodeau et al., 2008 [PubMed 18389477]; De Gassart et al., 2008 [PubMed 18305173]).[supplied by OMIM, Mar 2010]

GeneCards Summary for MARCHF1 Gene

MARCHF1 (Membrane Associated Ring-CH-Type Finger 1) is a Protein Coding gene. Diseases associated with MARCHF1 include Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly and Febrile Seizures, Familial, 11. An important paralog of this gene is MARCHF8.

UniProtKB/Swiss-Prot Summary for MARCHF1 Gene

  • E3 ubiquitin-protein ligase that mediates ubiquitination of TFRC, CD86, FAS and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. By constitutively ubiquitinating MHC class II proteins in immature dendritic cells, down-regulates their cell surface localization thus sequestering them in the intracellular endosomal system.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MARCHF1 Gene

Genomics for MARCHF1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MARCHF1 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
GH04J163610 Promoter/Enhancer 1.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 617.7 +772.5 772549 5.8 RUNX3 JUNB SPI1 IRF4 BATF ATF2 CTCF MARCHF1 TMA16 LOC107986325 ENSG00000273449 ANP32C lnc-TKTL2-1
GH04J164383 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE 600.7 +1.1 1149 3.8 CTCF PRDM10 KDM1A ZNF692 ZIC2 POLR2A EZH2 RAD21 ZBTB26 YY1 MARCHF1 lnc-TKTL2-1 KR153194-153 ANP32C
GH04J164197 Promoter 0.3 EPDnew 600.1 +186.5 186542 0.1 ANP32C MARCHF1 ENSG00000250746 lnc-TKTL2-1 TMA16
GH04J163493 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 47.3 +889.2 889219 3.5 SP1 HNRNPL CREB1 GATAD2A ZNF629 TFE3 ZNF512 SIX5 IKZF1 NFKBIZ TMA16 MARCHF1 ENSG00000273449 TKTL2 HSALNG0038297 ANP32C
GH04J163544 Enhancer 0.8 ENCODE dbSUPER 48.7 +839.1 839107 1.4 CTCF ZNF143 REST RAD21 TRIM22 NRF1 RUNX3 FOXK2 ZNF444 SMC3 MARCHF1 TMA16 TKTL2 ENSG00000273449 LOC107986325 ANP32C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MARCHF1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MARCHF1

Genomic Locations for MARCHF1 Gene

Genomic Locations for MARCHF1 Gene
chr4:163,524,298-164,384,050
(GRCh38/hg38)
Size:
859,753 bases
Orientation:
Minus strand
chr4:164,445,450-165,305,202
(GRCh37/hg19)
Size:
859,753 bases
Orientation:
Minus strand

Genomic View for MARCHF1 Gene

Genes around MARCHF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MARCHF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MARCHF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MARCHF1 Gene

Proteins for MARCHF1 Gene

  • Protein details for MARCHF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TCQ1-MARH1_HUMAN
    Recommended name:
    E3 ubiquitin-protein ligase MARCHF1
    Protein Accession:
    Q8TCQ1
    Secondary Accessions:
    • D3DP29
    • Q9NWR0

    Protein attributes for MARCHF1 Gene

    Size:
    289 amino acids
    Molecular mass:
    32308 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for MARCHF1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MARCHF1 Gene

Selected DME Specific Peptides for MARCHF1 Gene

Q8TCQ1:
  • QDICRICHCEGD
  • FIMETKLKPLRKWEKLQMT
  • LEWPFWTKLVVVAIGFTGGL
  • RLKAYNRVI

Post-translational modifications for MARCHF1 Gene

  • Has a short half-life. Instability/short half-life permits rapid changes that allow efficient induction of antigen presentation once antigen presenting cells, APCs, receive maturation signals. Small changes in protein levels significantly alter the cell surface display of MHC class II proteins (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for MARCHF1 Gene

Gene Families for MARCHF1 Gene

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

Protein Domains for MARCHF1 Gene

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

Graphical View of Domain Structure for InterPro Entry

Q8TCQ1

UniProtKB/Swiss-Prot:

MARH1_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 MARCHF1: view

No data available for Suggested Antigen Peptide Sequences for MARCHF1 Gene

Function for MARCHF1 Gene

Molecular function for MARCHF1 Gene

UniProtKB/Swiss-Prot Function:
E3 ubiquitin-protein ligase that mediates ubiquitination of TFRC, CD86, FAS and MHC class II proteins, such as HLA-DR alpha and beta, and promotes their subsequent endocytosis and sorting to lysosomes via multivesicular bodies. By constitutively ubiquitinating MHC class II proteins in immature dendritic cells, down-regulates their cell surface localization thus sequestering them in the intracellular endosomal system.
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;.
UniProtKB/Swiss-Prot Induction:
By IL10/interleukin-10.

Enzyme Numbers (IUBMB) for MARCHF1 Gene

Phenotypes From GWAS Catalog for MARCHF1 Gene

Gene Ontology (GO) - Molecular Function for MARCHF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0008270 zinc ion binding IEA --
GO:0016740 transferase activity IEA --
GO:0042287 MHC protein binding IBA,IDA 18389477
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MARCHF1: view
genes like me logo Genes that share phenotypes with MARCHF1: view

Animal Models for MARCHF1 Gene

MGI Knock Outs for MARCHF1:

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MARCHF1 Gene

Localization for MARCHF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MARCHF1 Gene

Golgi apparatus, trans-Golgi network membrane. Multi-pass membrane protein. Lysosome membrane. Multi-pass membrane protein. Cytoplasmic vesicle membrane. Multi-pass membrane protein. Late endosome membrane. Multi-pass membrane protein. Early endosome membrane. Multi-pass membrane protein. Cell 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 MARCHF1 gene
Compartment Confidence
plasma membrane 5
endosome 5
lysosome 5
endoplasmic reticulum 4
golgi apparatus 4
mitochondrion 2
cytosol 2
extracellular 1
cytoskeleton 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MARCHF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005764 lysosome IBA,IDA 14722266
GO:0005765 lysosomal membrane ISS --
GO:0005768 endosome IEA,IDA 14722266
GO:0005789 endoplasmic reticulum membrane ISS --
genes like me logo Genes that share ontologies with MARCHF1: view

Pathways & Interactions for MARCHF1 Gene

PathCards logo

SuperPathways for MARCHF1 Gene

No Data Available

UniProtKB/Swiss-Prot Q8TCQ1-MARH1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for MARCHF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IMP 27577745
GO:0002376 immune system process IEA --
GO:0002495 antigen processing and presentation of peptide antigen via MHC class II IDA 18389477
GO:0006955 immune response IBA,IDA 18305173
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with MARCHF1: view

No data available for Pathways by source and SIGNOR curated interactions for MARCHF1 Gene

Drugs & Compounds for MARCHF1 Gene

(3) Drugs for MARCHF1 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 MARCHF1 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 MARCHF1: view

Transcripts for MARCHF1 Gene

mRNA/cDNA for MARCHF1 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
15 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for MARCHF1 Gene

No ASD Table

Relevant External Links for MARCHF1 Gene

GeneLoc Exon Structure for
MARCHF1

Expression for MARCHF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MARCHF1

SOURCE GeneReport for Unigene cluster for MARCHF1 Gene:

Hs.592804

mRNA Expression by UniProt/SwissProt for MARCHF1 Gene:

Q8TCQ1-MARH1_HUMAN
Tissue specificity: Expressed in antigen presenting cells, APCs, located in lymph nodes and spleen. Also expressed in lung. Expression is high in follicular B-cells, moderate in dendritic cells and low in splenic T-cells.

Evidence on tissue expression from TISSUES for MARCHF1 Gene

  • Nervous system(4.7)
  • Intestine(4.4)
  • Lymph node(2.9)
  • Spleen(2.8)
  • Blood(2)
genes like me logo Genes that share expression patterns with MARCHF1: view

Primer Products

No data available for mRNA expression in normal human tissues , 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 MARCHF1 Gene

Orthologs for MARCHF1 Gene

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

Orthologs for MARCHF1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia MARCH1 30 31
  • 99.08 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MARCH1 31
  • 93 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MARCH1 30 31
  • 91.46 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia March1 30 31
  • 91.35 (n)
OneToOne
Marchf1 17
Cow
(Bos Taurus)
Mammalia MARCH1 30 31
  • 81.38 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MARCH1 31
  • 44 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MARCH1 31
  • 89 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MARCH1 31
  • 87 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii march1 31
  • 36 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG4080 31
  • 16 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SSM4 31
  • 3 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 55 (a)
OneToMany
Species where no ortholog for MARCHF1 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)
  • 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)
  • Rat (Rattus norvegicus)
  • 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)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for MARCHF1 Gene

ENSEMBL:
Gene Tree for MARCHF1 (if available)
TreeFam:
Gene Tree for MARCHF1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MARCHF1: view image

Paralogs for MARCHF1 Gene

Paralogs for MARCHF1 Gene

genes like me logo Genes that share paralogs with MARCHF1: view

Variants for MARCHF1 Gene

Additional dbSNP identifiers (rs#s) for MARCHF1 Gene

Structural Variations from Database of Genomic Variants (DGV) for MARCHF1 Gene

Variant ID Type Subtype PubMed ID
dgv1539e212 CNV loss 25503493
dgv1540e212 CNV loss 25503493
dgv1541e212 CNV loss 25503493
dgv1542e212 CNV loss 25503493
dgv2931n106 CNV deletion 24896259
dgv5458n100 CNV gain 25217958
dgv5459n100 CNV loss 25217958
dgv5460n100 CNV gain 25217958
dgv9367n54 CNV loss 21841781
dgv9368n54 CNV loss 21841781
esv1002929 CNV deletion 20482838
esv1471717 CNV insertion 17803354
esv1594178 CNV deletion 17803354
esv1773945 CNV deletion 17803354
esv2184592 CNV deletion 18987734
esv2224163 CNV deletion 18987734
esv22863 CNV loss 19812545
esv2293577 CNV deletion 18987734
esv2453665 CNV deletion 19546169
esv26379 CNV loss 19812545
esv2663902 CNV deletion 23128226
esv2665160 CNV deletion 23128226
esv2665814 CNV deletion 23128226
esv2671056 CNV deletion 23128226
esv2671614 CNV deletion 23128226
esv2672728 CNV deletion 23128226
esv2674636 CNV deletion 23128226
esv2676542 CNV deletion 23128226
esv2677589 CNV deletion 23128226
esv2728666 CNV deletion 23290073
esv2728667 CNV deletion 23290073
esv2728668 CNV deletion 23290073
esv2728669 CNV deletion 23290073
esv2728670 CNV deletion 23290073
esv2728671 CNV deletion 23290073
esv2728672 CNV deletion 23290073
esv2728674 CNV deletion 23290073
esv2728675 CNV deletion 23290073
esv2728676 CNV deletion 23290073
esv2728677 CNV deletion 23290073
esv2728678 CNV deletion 23290073
esv2728679 CNV deletion 23290073
esv2760839 CNV loss 21179565
esv2762472 CNV loss 21179565
esv29373 CNV loss 19812545
esv29511 CNV gain 19812545
esv3297829 CNV deletion 24192839
esv3303597 CNV mobile element insertion 20981092
esv3304345 CNV mobile element insertion 20981092
esv3308638 CNV mobile element insertion 20981092
esv3309308 CNV mobile element insertion 20981092
esv3329057 CNV insertion 20981092
esv3339212 CNV insertion 20981092
esv3371675 CNV insertion 20981092
esv3375283 CNV insertion 20981092
esv3564916 CNV deletion 23714750
esv3564917 CNV deletion 23714750
esv3564918 CNV deletion 23714750
esv3564919 CNV deletion 23714750
esv3564928 CNV deletion 23714750
esv3564929 CNV deletion 23714750
esv3569797 CNV loss 25503493
esv3569801 CNV loss 25503493
esv3575787 CNV gain 25503493
esv3575788 CNV gain 25503493
esv3575789 CNV gain 25503493
esv3602962 CNV loss 21293372
esv3602964 CNV loss 21293372
esv3602966 CNV loss 21293372
esv3602967 CNV loss 21293372
esv3602968 CNV loss 21293372
esv3602969 CNV loss 21293372
esv3602970 CNV loss 21293372
esv3602974 CNV loss 21293372
esv3602975 CNV gain 21293372
esv3602976 CNV loss 21293372
esv3602979 CNV loss 21293372
esv3602980 CNV loss 21293372
esv3602982 CNV loss 21293372
esv3602984 CNV loss 21293372
esv3602985 CNV loss 21293372
esv3602988 CNV loss 21293372
esv3602991 CNV loss 21293372
esv3894065 CNV loss 25118596
esv4777 CNV loss 18987735
esv6963 CNV loss 19470904
esv992191 CNV deletion 20482838
esv993008 CNV deletion 20482838
esv995521 CNV deletion 20482838
nsv1019140 CNV gain 25217958
nsv1019387 CNV gain 25217958
nsv1026744 CNV gain 25217958
nsv1029451 CNV loss 25217958
nsv1030184 CNV loss 25217958
nsv1074233 CNV deletion 25765185
nsv1074234 CNV deletion 25765185
nsv1114594 CNV deletion 24896259
nsv1117401 CNV tandem duplication 24896259
nsv1123861 CNV deletion 24896259
nsv1126049 CNV deletion 24896259
nsv1131837 CNV deletion 24896259
nsv1139326 CNV deletion 24896259
nsv1139822 CNV duplication 24896259
nsv1148331 CNV deletion 26484159
nsv1152187 CNV insertion 26484159
nsv1153533 CNV deletion 26484159
nsv292001 CNV deletion 16902084
nsv293053 CNV deletion 16902084
nsv436419 CNV deletion 17901297
nsv4586 CNV insertion 18451855
nsv4588 CNV deletion 18451855
nsv474278 CNV novel sequence insertion 20440878
nsv476552 CNV novel sequence insertion 20440878
nsv477493 CNV novel sequence insertion 20440878
nsv509943 OTHER sequence alteration 20534489
nsv513174 CNV loss 21212237
nsv521840 CNV loss 19592680
nsv525419 CNV loss 19592680
nsv526583 CNV gain 19592680
nsv596024 CNV loss 21841781
nsv596025 CNV loss 21841781
nsv818295 CNV loss 17921354
nsv819593 CNV gain 19587683
nsv821217 CNV deletion 20802225
nsv822813 CNV loss 20364138
nsv822814 CNV gain+loss 20364138
nsv830138 CNV gain 17160897
nsv955647 CNV deletion 24416366
nsv956381 CNV deletion 24416366
nsv958227 CNV deletion 24416366
nsv964107 CNV duplication 23825009
nsv964108 CNV duplication 23825009
nsv966334 CNV duplication 23825009
nsv966335 CNV duplication 23825009
nsv966375 CNV duplication 23825009
nsv966562 CNV deletion 23825009
nsv967846 CNV duplication 23825009
nsv980269 CNV duplication 23825009
nsv980270 CNV duplication 23825009
nsv980497 CNV deletion 23825009

Variation tolerance for MARCHF1 Gene

Residual Variation Intolerance Score: 38.4% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MARCHF1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MARCHF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MARCHF1 Gene

Disorders for MARCHF1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for MARCHF1 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with MARCHF1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MARCHF1 Gene

Publications for MARCHF1 Gene

  1. MHC class II stabilization at the surface of human dendritic cells is the result of maturation-dependent MARCH I down-regulation. (PMID: 18305173) De Gassart A … Gatti E (Proceedings of the National Academy of Sciences of the United States of America 2008) 3 4 23
  2. Interleukin-10-induced MARCH1 mediates intracellular sequestration of MHC class II in monocytes. (PMID: 18389477) Thibodeau J … Steimle V (European journal of immunology 2008) 3 4 23
  3. 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
  4. The HLA-DRalpha chain is modified by polyubiquitination. (PMID: 19117940) Lapaque N … Kelly AP (The Journal of biological chemistry 2009) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for MARCHF1 Gene

Sources for MARCHF1 Gene