MEX3C mex-3 RNA binding family member C [Homo sapiens (human)] - Gene

Summary

Official Symbol: MEX3Cprovided by HGNC
Official Full Name: mex-3 RNA binding family member Cprovided by HGNC
Primary source: HGNC:HGNC:28040
See related: Ensembl:ENSG00000176624 MIM:611005; AllianceGenome:HGNC:28040
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RKHD2; BM-013; MEX-3C; RNF194
Summary: This gene encodes a member of a family of proteins with two K homology (KH) RNA-binding domains and a C-terminal RING-finger domain. The protein interacts with mRNA via the KH domains, and the protein shuttles between the nucleus and cytoplasm. Polymorphisms in this gene may contribute to hypertension. [provided by RefSeq, Oct 2009]
Expression: Broad expression in testis (RPKM 32.6), lymph node (RPKM 11.1) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 18q21.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	18	NC_000018.10 (51174550..51197681, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	18	NC_060942.1 (51376318..51399436, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	18	NC_000018.9 (48700920..48724051, complement)

Chromosome 18 - NC_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Ubiquitylation of RUNX3 by RNA-binding ubiquitin ligase MEX3C promotes tumorigenesis in lung adenocarcinoma.
Title: Ubiquitylation of RUNX3 by RNA-binding ubiquitin ligase MEX3C promotes tumorigenesis in lung adenocarcinoma.
MEX3C as a potential target for hepatocellular carcinoma drug and immunity: combined therapy with Lenvatinib.
Title: MEX3C as a potential target for hepatocellular carcinoma drug and immunity: combined therapy with Lenvatinib.
MEX3C-Mediated Decay of SOCS3 mRNA Promotes JAK2/STAT3 Signaling to Facilitate Metastasis in Hepatocellular Carcinoma.
Title: MEX3C-Mediated Decay of SOCS3 mRNA Promotes JAK2/STAT3 Signaling to Facilitate Metastasis in Hepatocellular Carcinoma.
Circ_0007841 accelerates ovarian cancer development through facilitating MEX3C expression by restraining miR-151-3p activity.
Title: Circ_0007841 accelerates ovarian cancer development through facilitating MEX3C expression by restraining miR-151-3p activity.
MEX3C promotes osteosarcoma malignant progression through negatively regulating FGF14.
Title: MEX3C promotes osteosarcoma malignant progression through negatively regulating FGF14.
Data suggest that KH1 and HK2 domains of MEX3C bind with high affinity to MRE10, a 10-mer RNA (5prime-CAGAGUUUAG-3prime) containing an eight-nucleotide MEX3C recognition element motif (AGAGUUUA); 3prime-untranslated region of HLA-A2 mRNA contains such a high affinity binding site for KH domains of MEX3C. (MEX3C = mex-3 RNA binding family member C; HLA-A2 = HLA class I histocompatibility antigen, A-2 alpha chain)
Title: The human RNA-binding protein and E3 ligase MEX-3C binds the MEX-3-recognition element (MRE) motif with high affinity.
associates with cytoplasmic deadenylation complexes and ubiquitinates CNOT7
Title: A non-proteolytic role for ubiquitin in deadenylation of MHC-I mRNA by the RNA-binding E3-ligase MEX-3C.
The RNA-binding E3 ubiquitin ligase MEX-3C links ubiquitination with MHC-I mRNA degradation
Title: The RNA-binding E3 ubiquitin ligase MEX-3C links ubiquitination with MHC-I mRNA degradation.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
In combination sibling-pair linkage analysis and case-control association studies of chromosome 18, RKHD2 is found to contribute to the genetic susceptibility of essential hypertension.
Title: Implication of chromosome 18 in hypertension by sibling pair and association analyses: putative involvement of the RKHD2 gene.

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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

EBI GWAS Catalog

Description
A genome-wide association study of host genetic determinants of the antibody response to Anthrax Vaccine Adsorbed. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. 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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables RNA binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in chondrocyte hypertrophy	IEA Inferred from Electronic Annotation more info
involved_in energy homeostasis	IEA Inferred from Electronic Annotation more info
involved_in regulation of fat cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleus	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: RNA-binding E3 ubiquitin-protein ligase MEX3C

Names: RING finger and KH domain-containing protein 2; RING finger protein 194; RING-type E3 ubiquitin transferase MEX3C; RNA-binding protein MEX3C; ring finger and KH domain containing 2

NP_057710.3

EC 2.3.2.27

XP_047293496.1

EC 2.3.2.27

XP_054174652.1

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.

Genomic

NG_015801.1 RefSeqGene

Range

5001..28132

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_016626.5 → NP_057710.3 RNA-binding E3 ubiquitin-protein ligase MEX3C

See identical proteins and their annotated locations for NP_057710.3

Status: REVIEWED

Source sequence(s)

AC090330, AY950679, BC063244

Consensus CDS

CCDS11951.2

UniProtKB/Swiss-Prot

A1L022, Q5U5Q3, Q9NZE3

Related

ENSP00000385610.3, ENST00000406189.4

Conserved Domains (3) summary

smart00322
Location:326 → 391

KH; K homology RNA-binding domain

cd00105
Location:233 → 294

KH-I; K homology RNA-binding domain, type I. KH binds single-stranded RNA or DNA. It is found in a wide variety of proteins including ribosomal proteins, transcription factors and post-transcriptional modifiers of mRNA. There are two different KH domains that ...

pfam13920
Location:608 → 653

zf-C3HC4_3; Zinc finger, C3HC4 type (RING finger)