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

Summary

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

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_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

MARCH-I: A negative regulator of dendritic cell maturation.
Title: MARCH-I: A negative regulator of dendritic cell maturation.
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.
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.
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-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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed
Transferability of type 2 diabetes implicated loci in multi-ethnic cohorts from Southeast Asia. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G34235 (e-PCR)
- UniSTS:770

SHGC-83381 (e-PCR)
- UniSTS:101890

G33654 (e-PCR)
- UniSTS:59405

SHGC-112118 (e-PCR)
- UniSTS:183835

1026 (e-PCR)
- UniSTS:44321

WI-19849 (e-PCR)
- UniSTS:4901

G60133 (e-PCR)
- UniSTS:137253

D4S866 (e-PCR)
- UniSTS:56614

G62506 (e-PCR)
- UniSTS:139564

074ZH11 (e-PCR)
- UniSTS:62776

D4S2332 (e-PCR)
- UniSTS:35656

G41991 (e-PCR)
- UniSTS:29027

SHGC-145201 (e-PCR)
- UniSTS:174441

D4S2398 (e-PCR)
- UniSTS:12663

STS-Z41099 (e-PCR)
- UniSTS:81527

SHGC-110883 (e-PCR)
- UniSTS:168069

SHGC-32105 (e-PCR)
- UniSTS:4998

A008U27 (e-PCR)
- UniSTS:6279

SHGC-142348 (e-PCR)
- UniSTS:171403

RH119644 (e-PCR)
- UniSTS:133013

Hspa5 (e-PCR), detects polymorphism
- UniSTS:143268

SHGC-147381 (e-PCR)
- UniSTS:175783

NoName (e-PCR)
- UniSTS:487081

D4S1378 (e-PCR)
- UniSTS:8885

SHGC-142859 (e-PCR)
- UniSTS:171702

RH118423 (e-PCR)
- UniSTS:109260

RH93599 (e-PCR)
- UniSTS:85454

D4S3086 (e-PCR)
- UniSTS:50894

RH118996 (e-PCR)
- UniSTS:138964

KS702 (e-PCR)
- UniSTS:253401

D4S2834 (e-PCR)
- UniSTS:83419

D4S3090 (e-PCR)
- UniSTS:32228

SHGC-57357 (e-PCR)
- UniSTS:741

SHGC-147934 (e-PCR)
- UniSTS:176106

SHGC-68564 (e-PCR)
- UniSTS:95472

STS-M78266 (e-PCR)
- UniSTS:33776

RH12318 (e-PCR)
- UniSTS:62707

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

EC 2.3.2.27

NP_001381888.1

EC 2.3.2.27

NP_060393.1

EC 2.3.2.27

XP_016863823.1

EC 2.3.2.27

XP_016863824.1

EC 2.3.2.27

XP_016863825.1

EC 2.3.2.27

XP_047271825.1

EC 2.3.2.27

XP_054206295.1

EC 2.3.2.27

XP_054206296.1

EC 2.3.2.27

XP_054206297.1

EC 2.3.2.27

XP_054206298.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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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)

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
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
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

NC_000004.12 Reference GRCh38.p14 Primary Assembly

Range

163524298..164384019 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

UniProtKB/TrEMBL

A8K0Z6
XM_017008335.2 → XP_016863824.1 E3 ubiquitin-protein ligase MARCHF1 isoform X3

UniProtKB/TrEMBL

A8K0Z6
XM_047415869.1 → XP_047271825.1 E3 ubiquitin-protein ligase MARCHF1 isoform X1
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