MAF1 MAF1 homolog, negative regulator of RNA polymerase III [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAF1provided by HGNC
Official Full Name: MAF1 homolog, negative regulator of RNA polymerase IIIprovided by HGNC
Primary source: HGNC:HGNC:24966
See related: Ensembl:ENSG00000179632 MIM:610210; AllianceGenome:HGNC:24966
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
Summary: This gene encodes a protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It responds to changes in the cellular environment and represses pol III transcription. Biochemical studies identified the initiation factor TFIIIB as a target for Maf1-dependent repression. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in fat (RPKM 39.1), ovary (RPKM 34.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 8q24.3

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (144104461..144107611)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (145265255..145268407)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (145159364..145162514)

Chromosome 8 - NC_000008.11 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 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?

Maf1 suppression of ATF5-dependent mitochondrial unfolded protein response contributes to rapamycin-induced radio-sensitivity in lung cancer cell line A549.
Title: Maf1 suppression of ATF5-dependent mitochondrial unfolded protein response contributes to rapamycin-induced radio-sensitivity in lung cancer cell line A549.
results identify the ubiquitin proteasome pathway and CUL2 as important regulators of MAF1 levels; they suggest that decreases in MAF1 protein underlie chemoresistance in HCC and perhaps other cancers and point to an important role for MAF1 and RNA pol III-mediated transcription in chemosensitivity and apoptosis
Title: The RNA polymerase III repressor MAF1 is regulated by ubiquitin-dependent proteasome degradation and modulates cancer drug resistance and apoptosis.
Structural basis for RNA polymerase III transcription repression by Maf1 in humans and yeast has been uncovered.
Title: Structural basis for RNA polymerase III transcription repression by Maf1.
High expression levels of MAF1 homolog, negative regulator of RNA Pol III (MAF1) is associated with advanced tumor depth, lymph node metastasis, distant metastasis and poor prognosis of colorectal cancer (CRC). MAF1 knockdown suppresses chemoresistance and migration of CRC cancer cells. High expression levels of MAF1 is an independent prognostic indicator in microsatellite instabilitypositive CRC.
Title: Involvement of MAF1 homolog, negative regulator of RNA polymerase III in colorectal cancer progression.
can act as a transcriptional activator for PTEN, which is important for MAF1's tumor-suppressor function
Title: MAF1 suppresses AKT-mTOR signaling and liver cancer through activation of PTEN transcription.
Repression of Pol III recruitment and transcription are tightly linked to MAF1, which selectively localizes at Pol III loci, even under serum-replete conditions, and increasingly targets transcribing Pol III in response to serum starvation
Title: Human MAF1 targets and represses active RNA polymerase III genes by preventing recruitment rather than inducing long-term transcriptional arrest.
MAF1, RNF7 and SETD3 are identified as PCNA-associated proteins in human cells and given this interaction with PCNA, Maf1, RNF7, and SetD3 are potentially involved in DNA replication, DNA repair, or associated processes.
Title: A fluorescent bimolecular complementation screen reveals MAF1, RNF7 and SETD3 as PCNA-associated proteins in human cells.
These results reveal a novel mechanism by which MAF1 and Pol III regulate the activity of the CDKN1A-encoding gene transcribed by Pol II.
Title: MAF1 represses CDKN1A through a Pol III-dependent mechanism.
novel role for Maf1 in suppressing both lipid biogenesis and tumor formation; Maf1 elicits these biological responses through its ability to repress genes that that synthesize lipids and regulate biosynthetic capacity.
Title: Maf1 is a novel target of PTEN and PI3K signaling that negatively regulates oncogenesis and lipid metabolism.
Studies on Maf1 regulation up until now have focused on posttranslational mechanisms, notably phosphorylation, which controls Maf1 localization (in yeast) and its interaction with the polymerase (in yeast and humans)
Title: Regulating maf1 expression and its expanding biological functions.

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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)

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79825 (e-PCR)
- UniSTS:92275

RH65611 (e-PCR)
- UniSTS:30070

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase III core binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase III type 1 promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase III type 2 promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase III type 3 promoter sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of transcription by RNA polymerase I	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of transcription by RNA polymerase III	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of transcription by RNA polymerase III	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in cytosol	TAS Traceable Author Statement more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: repressor of RNA polymerase III transcription MAF1 homolog

Names: MAF1 negative regulator of RNA polymerase III; homolog of yeast MAF1

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.