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

Gene ID: 55016, updated on 3-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (163524298..164384019, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (166872170..167731735, complement)
105.20220307 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
  • 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. The Immune-Specific E3 Ubiquitin Ligase MARCH1 Is Upregulated during Human Cytomegalovirus Infection to Regulate Iron Levels. Martin M, et al. J Virol, 2022 Mar 23. PMID 35045264, Free PMC Article
  2. 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
  3. 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
  4. 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
  5. Autoregulation of MARCH1 expression by dimerization and autoubiquitination. Bourgeois-Daigneault MC, et al. J Immunol, 2012 May 15. PMID 22508929

See all (35) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MARCH-I: A negative regulator of dendritic cell maturation.
    Title: MARCH-I: A negative regulator of dendritic cell maturation.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. found downstream sequence elements, present in the first coding exon of March-I in antigen-presenting cells (APCs), that confer regulation of March-I expression in activated APCs
    Title: A major isoform of the E3 ubiquitin ligase March-I in antigen-presenting cells has regulatory sequences within its gene.
Submit: New GeneRIF Correction See all GeneRIFs (19)

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_2023_10

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

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