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MARCH1 membrane associated ring-CH-type finger 1 [ Homo sapiens (human) ]

Gene ID: 55016, updated on 17-Jun-2019

Summary

Official Symbol
MARCH1provided 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
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
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

Genomic context

See MARCH1 in Genome Data Viewer
Location:
4q32.2-q32.3
Exon count:
12
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (163524298..164384050, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (164445450..165305093, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene transketolase like 2 Neighboring gene translation machinery associated 16 homolog Neighboring gene uncharacterized LOC107986325 Neighboring gene RN7SK pseudogene 105 Neighboring gene YWHAQ pseudogene 4 Neighboring gene heat shock protein family A (Hsp70) member 5 pseudogene Neighboring gene acidic nuclear phosphoprotein 32 family member C Neighboring gene RNA, U6 small nuclear 284, pseudogene Neighboring gene cysteine and histidine rich domain containing 1 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ20668, DKFZp564M1682

Gene Ontology Provided by GOA

Function Evidence Code Pubs
MHC protein binding IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase activity IEA
Inferred from Electronic Annotation
more info
 
ubiquitin-protein transferase activity IDA
Inferred from Direct Assay
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
antigen processing and presentation of peptide antigen via MHC class II IDA
Inferred from Direct Assay
more info
PubMed 
immune response IDA
Inferred from Direct Assay
more info
PubMed 
protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
cytoplasmic vesicle membrane IEA
Inferred from Electronic Annotation
more info
 
early endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
late endosome membrane IDA
Inferred from Direct Assay
more info
PubMed 
lysosomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
trans-Golgi network membrane ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
E3 ubiquitin-protein ligase MARCH1
Names
RING finger protein 171
RING-type E3 ubiquitin transferase MARCH1
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_060393.1
XP_011530357.1
XP_016863823.1
XP_016863824.1
XP_016863825.1

NCBI Reference Sequences (RefSeq)

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_001166373.1NP_001159845.1  E3 ubiquitin-protein ligase MARCH1 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)
    AC093788, AK289711, AL713759
    Consensus CDS
    CCDS54814.1
    UniProtKB/Swiss-Prot
    Q8TCQ1
    UniProtKB/TrEMBL
    A8K0Z6
    Related
    ENSP00000427223.1, ENST00000503008.5
    Conserved Domains (2) summary
    smart00744
    Location:79127
    RINGv; The RING-variant domain is a C4HC3 zinc-finger like motif found in a number of cellular and viral proteins
    pfam15245
    Location:40102
    VGLL4; Transcription cofactor vestigial-like protein 4
  2. NM_017923.4NP_060393.1  E3 ubiquitin-protein ligase MARCH1 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/Swiss-Prot
    Q8TCQ1
    Related
    ENSP00000345676.5, ENST00000339875.9
    Conserved Domains (1) summary
    smart00744
    Location:62110
    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: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    163524298..164384050 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017008336.1XP_016863825.1  E3 ubiquitin-protein ligase MARCH1 isoform X3

  2. XM_017008335.1XP_016863824.1  E3 ubiquitin-protein ligase MARCH1 isoform X3

  3. XM_011532055.3XP_011530357.1  E3 ubiquitin-protein ligase MARCH1 isoform X1

    UniProtKB/TrEMBL
    D6RGC4
    Related
    ENSP00000421322.1, ENST00000514618.5
    Conserved Domains (1) summary
    smart00744
    Location:335383
    RINGv; The RING-variant domain is a C4HC3 zinc-finger like motif found in a number of cellular and viral proteins
  4. XM_017008334.1XP_016863823.1  E3 ubiquitin-protein ligase MARCH1 isoform X2

    UniProtKB/Swiss-Prot
    Q8TCQ1
    Related
    ENSP00000274056.7, ENST00000274056.11
    Conserved Domains (2) summary
    smart00744
    Location:79127
    RINGv; The RING-variant domain is a C4HC3 zinc-finger like motif found in a number of cellular and viral proteins
    pfam15245
    Location:40102
    VGLL4; Transcription cofactor vestigial-like protein 4
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