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    MARCHF1 membrane associated ring-CH-type finger 1 [ Homo sapiens (human) ]

    Gene ID: 55016, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MARCHF1provided by HGNC
    Official Full Name
    membrane associated ring-CH-type finger 1provided by HGNC
    Primary source
    HGNC:HGNC:26077
    See related
    Ensembl:ENSG00000145416 MIM:613331; AllianceGenome:HGNC:26077
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MARCH1; RNF171; MARCH-I
    Summary
    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]
    Expression
    Broad expression in lymph node (RPKM 10.3), spleen (RPKM 8.7) and 21 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MARCHF1 in Genome Data Viewer
    Location:
    4q32.2-q32.3
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (163524298..164384019, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (166872170..167731735, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (164445450..165305171, complement)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15780 Neighboring gene uncharacterized LOC124900805 Neighboring gene CRISPRi-validated cis-regulatory element chr4.3253 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:164415733-164416635 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:164461973-164462472 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:164470805-164471306 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:164471307-164471806 Neighboring gene transketolase like 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22102 Neighboring gene translation machinery associated 16 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15781 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22103 Neighboring gene uncharacterized LOC107986325 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22104 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22105 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr4:164614705-164615904 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:164658768-164658959 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22106 Neighboring gene RN7SK pseudogene 105 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:164871577-164872076 Neighboring gene YWHAQ pseudogene 4 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:165062637-165063226 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:165063227-165063816 Neighboring gene heat shock protein family A (Hsp70) member 5 pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:165162454-165162964 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:165162965-165163475 Neighboring gene acidic nuclear phosphoprotein 32 family member C, pseudogene Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:165272175-165272792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:165304399-165304900 Neighboring gene MPRA-validated peak5144 silencer Neighboring gene RNA, U6 small nuclear 284, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:165597429-165597929 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_75752 Neighboring gene CHORDC1 pseudogene 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. MARCH-I: A negative regulator of dendritic cell maturation. Valizadeh M, et al. Exp Cell Res, 2024 Mar 1. PMID 38331309
    2. Autoregulation of MARCH1 expression by dimerization and autoubiquitination. Bourgeois-Daigneault MC, et al. J Immunol, 2012 May 15. PMID 22508929
    3. Silencing MARCH1 suppresses proliferation, migration and invasion of ovarian cancer SKOV3 cells via downregulation of NF-κB and Wnt/β-catenin pathways. Meng Y, et al. Oncol Rep, 2016 Nov. PMID 27633480, Free PMC Article
    4. MARCH1 encourages tumour progression of hepatocellular carcinoma via regulation of PI3K-AKT-β-catenin pathways. Xie L, et al. J Cell Mol Med, 2019 May. PMID 30793486, Free PMC Article
    5. 5-FU inhibits migration and invasion of CRC cells through PI3K/AKT pathway regulated by MARCH1. Wang N, et al. Cell Biol Int, 2021 Feb. PMID 33085122, Free PMC Article

    See all (38) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. MARCH1 negatively regulates TBK1-mTOR signaling pathway by ubiquitinating TBK1.
      Title: MARCH1 negatively regulates TBK1-mTOR signaling pathway by ubiquitinating TBK1.
    2. MARCH-I: A negative regulator of dendritic cell maturation.
      Title: MARCH-I: A negative regulator of dendritic cell maturation.
    3. Human MARCH1, 2, and 8 block Ebola virus envelope glycoprotein cleavage via targeting furin P domain.
      Title: Human MARCH1, 2, and 8 block Ebola virus envelope glycoprotein cleavage via targeting furin P domain.
    4. MARCH1 silencing suppresses growth of oral squamous cell carcinoma through regulation of PHLPP2.
      Title: MARCH1 silencing suppresses growth of oral squamous cell carcinoma through regulation of PHLPP2.
    5. The Immune-Specific E3 Ubiquitin Ligase MARCH1 Is Upregulated during Human Cytomegalovirus Infection to Regulate Iron Levels.
      Title: The Immune-Specific E3 Ubiquitin Ligase MARCH1 Is Upregulated during Human Cytomegalovirus Infection to Regulate Iron Levels.
    6. 5-FU inhibits migration and invasion of CRC cells through PI3K/AKT pathway regulated by MARCH1.
      Title: 5-FU inhibits migration and invasion of CRC cells through PI3K/AKT pathway regulated by MARCH1.
    7. ciRs-6 upregulates March1 to suppress bladder cancer growth by sponging miR-653.
      Title: ciRs-6 upregulates March1 to suppress bladder cancer growth by sponging miR-653.
    8. MARCH1 has an important role in the development and progression of hepatocellular carcinoma.
      Title: MARCH1 encourages tumour progression of hepatocellular carcinoma via regulation of PI3K-AKT-β-catenin pathways.
    9. Membrane-associated RING-CH (MARCH) 1 and 2 are MARCH family members that inhibit HIV-1 infection
      Title: Membrane-associated RING-CH (MARCH) 1 and 2 are MARCH family members that inhibit HIV-1 infection.
    10. Results show that MARCH1 deficiency results in sex-specific changes in body weight, adiposity, and increases glucose clearance. Genetic association study for MARCH1 in type 2 diabetes risk in publicly-available datasets found evidence suggestive of association. These data show a link between immune function and diabetes implicating MARCH1 as a regulator of lipid metabolism and glucose tolerance in sex-specific manner.
      Title: The E3 ubiquitin ligase MARCH1 regulates glucose-tolerance and lipid storage in a sex-specific manner.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
    EBI GWAS Catalog
    Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20668, DKFZp564M1682

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables MHC protein binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables MHC protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in antigen processing and presentation of peptide antigen via MHC class II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in antigen processing and presentation of peptide antigen via MHC class II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in immune response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in immune response IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein polyubiquitination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein polyubiquitination IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in early endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in early endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in endosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in late endosome membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in late endosome membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in lysosomal membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in lysosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in lysosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in trans-Golgi network membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    E3 ubiquitin-protein ligase MARCHF1
    Names
    E3 ubiquitin-protein ligase MARCH1
    RING finger protein 171
    RING-type E3 ubiquitin transferase MARCH1
    RING-type E3 ubiquitin transferase MARCHF1
    membrane associated ring finger 1
    membrane-associated RING finger protein 1
    membrane-associated RING-CH protein I
    membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase
    NP_001159845.1
    NP_001381888.1
    NP_060393.1
    XP_016863823.1
    XP_016863824.1
    XP_016863825.1
    XP_047271825.1
    XP_054206295.1
    XP_054206296.1
    XP_054206297.1
    XP_054206298.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001166373.2 → NP_001159845.1  E3 ubiquitin-protein ligase MARCHF1 isoform 1

      See identical proteins and their annotated locations for NP_001159845.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AC079240, AC093788, AK289711, AL713759
      Consensus CDS
      CCDS54814.1
      UniProtKB/Swiss-Prot
      D3DP29, Q8TCQ1, Q9NWR0
      UniProtKB/TrEMBL
      A8K0Z6
      Related
      ENSP00000427223.1, ENST00000503008.5
      Conserved Domains (2) summary
      smart00744
      Location:79 → 127
      RINGv; The RING-variant domain is a C4HC3 zinc-finger like motif found in a number of cellular and viral proteins
      pfam15245
      Location:40 → 102
      VGLL4; Transcription cofactor vestigial-like protein 4

    2. NM_001394959.1 → NP_001381888.1  E3 ubiquitin-protein ligase MARCHF1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC079232, AC079240, AC092631, AC093788, AC098867, AC108154
      Consensus CDS
      CCDS93664.1
      UniProtKB/TrEMBL
      D6RGC4
      Related
      ENSP00000421322.1, ENST00000514618.6
      Conserved Domains (1) summary
      cd16698
      Location:335 → 386
      RING_CH-C4HC3_MARCH1_like; RING-CH finger, H2 subclass (C4HC3-type), found in membrane-associated RING finger protein MARCH1, MARCH8, and similar proteins

    3. NM_017923.4 → NP_060393.1  E3 ubiquitin-protein ligase MARCHF1 isoform 2

      See identical proteins and their annotated locations for NP_060393.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks multiple exons at its 5' end and has a novel segment at its 5' end, compared to variant 1. These differences result in a protein (isoform 2) with a shorter and distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC093788, AC098867, AC108154, AW118953
      Consensus CDS
      CCDS3806.1
      UniProtKB/TrEMBL
      A8K0Z6
      Related
      ENSP00000345676.5, ENST00000339875.9
      Conserved Domains (1) summary
      smart00744
      Location:62 → 110
      RINGv; The RING-variant domain is a C4HC3 zinc-finger like motif found in a number of cellular and viral proteins

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      163524298..164384019 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008336.2 → XP_016863825.1  E3 ubiquitin-protein ligase MARCHF1 isoform X3

      UniProtKB/TrEMBL
      A8K0Z6

    2. XM_017008335.2 → XP_016863824.1  E3 ubiquitin-protein ligase MARCHF1 isoform X3

      UniProtKB/TrEMBL
      A8K0Z6

    3. XM_047415869.1 → XP_047271825.1  E3 ubiquitin-protein ligase MARCHF1 isoform X1

    4. XM_017008334.2 → XP_016863823.1  E3 ubiquitin-protein ligase MARCHF1 isoform X2

      UniProtKB/Swiss-Prot
      D3DP29, Q8TCQ1, Q9NWR0
      UniProtKB/TrEMBL
      A8K0Z6
      Related
      ENSP00000274056.7, ENST00000274056.11
      Conserved Domains (2) summary
      smart00744
      Location:79 → 127
      RINGv; The RING-variant domain is a C4HC3 zinc-finger like motif found in a number of cellular and viral proteins
      pfam15245
      Location:40 → 102
      VGLL4; Transcription cofactor vestigial-like protein 4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      166872170..167731735 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350323.1 → XP_054206298.1  E3 ubiquitin-protein ligase MARCHF1 isoform X3

    2. XM_054350322.1 → XP_054206297.1  E3 ubiquitin-protein ligase MARCHF1 isoform X3

    3. XM_054350320.1 → XP_054206295.1  E3 ubiquitin-protein ligase MARCHF1 isoform X1

    4. XM_054350321.1 → XP_054206296.1  E3 ubiquitin-protein ligase MARCHF1 isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8TCQ1.1 GenPept UniProtKB/Swiss-Prot:Q8TCQ1

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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