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MARCHF8 membrane associated ring-CH-type finger 8 [ Homo sapiens (human) ]

Gene ID: 220972, updated on 2-Aug-2021

Summary

Official Symbol
MARCHF8provided by HGNC
Official Full Name
membrane associated ring-CH-type finger 8provided by HGNC
Primary source
HGNC:HGNC:23356
See related
Ensembl:ENSG00000165406 MIM:613335
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
MIR; CMIR; c-MIR; MARCH8; RNF178; MARCH-VIII
Summary
MARCH8 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. MARCH8 induces the internalization of several membrane glycoproteins (Goto et al., 2003 [PubMed 12582153]; Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]
Expression
Ubiquitous expression in testis (RPKM 18.4), bone marrow (RPKM 12.0) and 25 other tissues See more
Orthologs
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Genomic context

See MARCHF8 in Genome Data Viewer
Location:
10q11.21-q11.22
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (45454585..45594907, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (45950033..46090355, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene olfactory receptor family 13 subfamily A member 1 Neighboring gene arachidonate 5-lipoxygenase Neighboring gene uncharacterized LOC102724323 Neighboring gene uncharacterized LOC105378286 Neighboring gene VISTA enhancer hs2065 Neighboring gene zinc finger AN1-type containing 4 Neighboring gene ArfGAP with GTPase domain, ankyrin repeat and PH domain 10, 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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
GeneReviews: Not available
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Discovery and refinement of loci associated with lipid levels.
GeneReviews: Not available
Genome-wide association study of hematological and biochemical traits in a Japanese population.
GeneReviews: Not available
Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
GeneReviews: Not available
Seventy-five genetic loci influencing the human red blood cell.
GeneReviews: Not available

HIV-1 interactions

Replication interactions

Interaction Pubs
HIV-1 replication is inhibited by MARCH8 expression in monocyte derived macrophages as replication is recovered through MARCH8 knockdown by shRNA PubMed
HIV-1 replication is inhibited by MARCH8 expression in 293T or MAGIC5 cells PubMed
Knockdown of membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase (MARCH8) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp120 env HIV-1 Env (gp120) binds MARCH8 leading to Env (gp120) removal from the surface of cells PubMed
env HIV-1 Env (gp120) incorporation into virions is inhibited by MARCH8 expression PubMed
env HIV-1 Env (gp120) binds MARCH8 leading to Env (gp120) downregulation from the surface of cells PubMed
Pr55(Gag) gag Expression of MARCH-8 inhibits HLA-DR-mediated enhancement of mature Gag products internalization by downregulating cell surface HLA-DR PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables MHC protein binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables ubiquitin protein ligase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ubiquitin-protein transferase 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 adaptive immune response IEA
Inferred from Electronic Annotation
more info
 
involved_in antigen processing and presentation of peptide antigen via MHC class II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in immune response IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein polyubiquitination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein polyubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in early endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in late endosome membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosomal membrane IEA
Inferred from Electronic Annotation
more info
 
is_active_in lysosome IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
E3 ubiquitin-protein ligase MARCHF8
Names
E3 ubiquitin-protein ligase MARCH8
RING finger protein 178
RING-type E3 ubiquitin transferase MARCH8
RING-type E3 ubiquitin transferase MARCHF8
c-mir, cellular modulator of immune recognition
cellular modulator of immune recognition (c-MIR)
membrane associated ring finger 8
membrane-associated RING finger protein 8
membrane-associated RING-CH protein VIII
membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase
NP_001002266.1
NP_001269795.1
NP_659458.2
XP_005271861.1
XP_006717767.1
XP_011537794.1
XP_011537797.1

NCBI Reference Sequences (RefSeq)

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_001002266.3NP_001002266.1  E3 ubiquitin-protein ligase MARCHF8 isoform a

    See identical proteins and their annotated locations for NP_001002266.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an in-frame exon in the 3' coding region, compared to variant 4. This results in a shorter protein (isoform a), compared to isoform b. Variants 2 and 3 encode the same isoform (a).
    Source sequence(s)
    AK023636, AK025472, AL833316, BC025394, BM151615
    Consensus CDS
    CCDS7213.1
    UniProtKB/Swiss-Prot
    Q5T0T0
    UniProtKB/TrEMBL
    A0A024R7U2
    Related
    ENSP00000379116.2, ENST00000395769.6
    Conserved Domains (1) 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
  2. NM_001282866.2NP_001269795.1  E3 ubiquitin-protein ligase MARCHF8 isoform b

    See identical proteins and their annotated locations for NP_001269795.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longer isoform (b).
    Source sequence(s)
    AK023636, AK025472, AK307667, AL833316, BM151615
    Consensus CDS
    CCDS60519.1
    UniProtKB/Swiss-Prot
    Q5T0T0
    Related
    ENSP00000411848.2, ENST00000453424.7
    Conserved Domains (1) summary
    smart00744
    Location:361409
    RINGv; The RING-variant domain is a C4HC3 zinc-finger like motif found in a number of cellular and viral proteins
  3. NM_145021.6NP_659458.2  E3 ubiquitin-protein ligase MARCHF8 isoform a

    See identical proteins and their annotated locations for NP_659458.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and lacks an in-frame exon in the 3' coding region, compared to variant 4. This results in a shorter protein (isoform a), compared to isoform b. Variants 2 and 3 encode the same isoform (a).
    Source sequence(s)
    AK023636, AK025472, AL445201, AL833316, BC066988, BM151615, HY047787
    Consensus CDS
    CCDS7213.1
    UniProtKB/Swiss-Prot
    Q5T0T0
    UniProtKB/TrEMBL
    A0A024R7U2
    Related
    ENSP00000317087.3, ENST00000319836.7
    Conserved Domains (1) 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

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    45454585..45594907 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005271804.3XP_005271861.1  E3 ubiquitin-protein ligase MARCHF8 isoform X1

    See identical proteins and their annotated locations for XP_005271861.1

    UniProtKB/Swiss-Prot
    Q5T0T0
    Conserved Domains (1) summary
    smart00744
    Location:361409
    RINGv; The RING-variant domain is a C4HC3 zinc-finger like motif found in a number of cellular and viral proteins
  2. XM_011539492.3XP_011537794.1  E3 ubiquitin-protein ligase MARCHF8 isoform X1

    See identical proteins and their annotated locations for XP_011537794.1

    UniProtKB/Swiss-Prot
    Q5T0T0
    Conserved Domains (1) summary
    smart00744
    Location:361409
    RINGv; The RING-variant domain is a C4HC3 zinc-finger like motif found in a number of cellular and viral proteins
  3. XM_006717704.2XP_006717767.1  E3 ubiquitin-protein ligase MARCHF8 isoform X1

    See identical proteins and their annotated locations for XP_006717767.1

    UniProtKB/Swiss-Prot
    Q5T0T0
    Conserved Domains (1) summary
    smart00744
    Location:361409
    RINGv; The RING-variant domain is a C4HC3 zinc-finger like motif found in a number of cellular and viral proteins
  4. XM_011539495.1XP_011537797.1  E3 ubiquitin-protein ligase MARCHF8 isoform X2

    See identical proteins and their annotated locations for XP_011537797.1

    UniProtKB/Swiss-Prot
    Q5T0T0
    UniProtKB/TrEMBL
    A0A024R7U2
    Conserved Domains (1) 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

RNA

  1. XR_246519.3 RNA Sequence

Reference GRCh38.p13 ALT_REF_LOCI_1

Genomic

  1. NW_003315935.1 Reference GRCh38.p13 ALT_REF_LOCI_1

    Range
    295416..305254 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001002265.1: Suppressed sequence

    Description
    NM_001002265.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
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