MARCHF9 membrane associated ring-CH-type finger 9 [Homo sapiens (human)] - Gene

Summary

Official Symbol: MARCHF9provided by HGNC
Official Full Name: membrane associated ring-CH-type finger 9provided by HGNC
Primary source: HGNC:HGNC:25139
See related: Ensembl:ENSG00000139266 MIM:613336; AllianceGenome:HGNC:25139
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: MARCH9; RNF179; MARCH-IX
Summary: MARCH9 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. MARCH9 induces internalization of several membrane glycoproteins and directs them to the endosomal compartment (Bartee et al., 2004 [PubMed 14722266]; Hoer et al., 2007 [PubMed 17174307]).[supplied by OMIM, Apr 2010]
Expression: Ubiquitous expression in kidney (RPKM 5.4), spleen (RPKM 4.4) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12q14.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (57755103..57760411)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (57723454..57728760)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (58148886..58154194)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

analysis of glioblastoma alterations such as IDH mutation, NF1 inactivation, and CDK4-MARCH9 locus amplification
Title: Computational Characterization of Suppressive Immune Microenvironments in Glioblastoma.
biochemical and structural findings demonstrate that specific sequences in the alpha-helical MARCH9 TM domains make crucial contributions to its ability to down-regulate its protein substrates.
Title: A serine in the first transmembrane domain of the human E3 ubiquitin ligase MARCH9 is critical for down-regulation of its protein substrates.
Overexpression of MARCH9 was found to attenuate the oncogenic effect of ICAM-1, suggesting that MARCH9 may inhibit tumor progression by downregulating ICAM-1 signaling.
Title: MARCH9 Suppresses Lung Adenocarcinoma Progression by Downregulating ICAM-1.
this study shows that MARCH9-mediated ubiquitination regulates MHC I export from the trans Golgi network
Title: MARCH9-mediated ubiquitination regulates MHC I export from the TGN.
Downregulation of Mult1 by MARCH9 was reversed by heat-shock treatment, which resulted in the dissociation of the two proteins and increased the amount of Mult1 at the cell surface.
Title: Stress-regulated targeting of the NKG2D ligand Mult1 by a membrane-associated RING-CH family E3 ligase.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
MARCH-IX expression causes ubiquitination and downregulation of ICAM-1
Title: MARCH-IX mediates ubiquitination and downregulation of ICAM-1.

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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

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

RH101924 (e-PCR)
- UniSTS:96259

RH80928 (e-PCR)
- UniSTS:84872

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ubiquitin-protein transferase activity	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi membrane	IEA Inferred from Electronic Annotation more info
is_active_in Golgi stack	IBA Inferred from Biological aspect of Ancestor more info
located_in Golgi stack	IDA Inferred from Direct Assay more info	PubMed
located_in lysosomal membrane	IEA Inferred from Electronic Annotation more info
is_active_in trans-Golgi network	IBA Inferred from Biological aspect of Ancestor more info
located_in trans-Golgi network	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: E3 ubiquitin-protein ligase MARCHF9

Names: E3 ubiquitin-protein ligase MARCH9; RING finger protein 179; RING-type E3 ubiquitin transferase MARCH9; RING-type E3 ubiquitin transferase MARCHF9; membrane associated ring finger 9; membrane-associated RING finger protein 9; membrane-associated RING-CH protein IX; membrane-associated ring finger (C3HC4) 9

NP_612405.2

EC 2.3.2.27

XP_047285850.1

EC 2.3.2.27

XP_054229835.1

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.