MAFF MAF bZIP transcription factor F [Homo sapiens (human)] - Gene

Summary

Official Symbol: MAFFprovided by HGNC
Official Full Name: MAF bZIP transcription factor Fprovided by HGNC
Primary source: HGNC:HGNC:6780
See related: Ensembl:ENSG00000185022 MIM:604877; AllianceGenome:HGNC:6780
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: U-MAF; hMafF
Summary: The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that lacks a transactivation domain. It is known to bind the US-2 DNA element in the promoter of the oxytocin receptor (OTR) gene and most likely heterodimerizes with other leucine zipper-containing proteins to enhance expression of the OTR gene during term pregnancy. The encoded protein can also form homodimers, and since it lacks a transactivation domain, the homodimer may act as a repressor of transcription. This gene may also be involved in the cellular stress response. Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2009]
Expression: Ubiquitous expression in gall bladder (RPKM 22.1), fat (RPKM 18.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 22q13.1

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (38201994..38216511)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (38666346..38680861)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (38598001..38612518)

Chromosome 22 - NC_000022.11 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?

Responsive Expression of MafF to beta-Amyloid-Induced Oxidative Stress.
Title: Responsive Expression of MafF to β-Amyloid-Induced Oxidative Stress.
Transcription Factor MAFF (MAF Basic Leucine Zipper Transcription Factor F) Regulates an Atherosclerosis Relevant Network Connecting Inflammation and Cholesterol Metabolism.
Title: Transcription Factor MAFF (MAF Basic Leucine Zipper Transcription Factor F) Regulates an Atherosclerosis Relevant Network Connecting Inflammation and Cholesterol Metabolism.
MafF Is an Antiviral Host Factor That Suppresses Transcription from Hepatitis B Virus Core Promoter.
Title: MafF Is an Antiviral Host Factor That Suppresses Transcription from Hepatitis B Virus Core Promoter.
The HIF target MAFF promotes tumor invasion and metastasis through IL11 and STAT3 signaling.
Title: The HIF target MAFF promotes tumor invasion and metastasis through IL11 and STAT3 signaling.
Alternative splicing related genetic variants contribute to bladder cancer risk.
Title: Alternative splicing related genetic variants contribute to bladder cancer risk.
CXCL1 and CSF3 levels are controlled by MAFF in myometrial cells.
Title: Regulation of CXCL1 chemokine and CSF3 cytokine levels in myometrial cells by the MAFF transcription factor.
These results suggest that MAFB and MAFF play critical roles in the antitumor effects of retinoids by regulating the expression of retinoid target genes such as TFPI2 and can be promising for developing therapies to combat HCC invasion.
Title: Involvement of MAFB and MAFF in Retinoid-Mediated Suppression of Hepatocellular Carcinoma Invasion.
MAF genes have different levels of biological and genetic relevance. Besides, MAFF and MAFG could be associated with the susceptibility to develop CML.
Title: Small MAF genes variants and chronic myeloid leukemia.
Only in the presence of both MIP and hMafF could the nUS2-pLacZi reporter in yeast genome be activated.
Title: Establish a recombinant yeast detection system to study the effect of MIP on transactivation function of hMafF in US2-driven gene transcription.
MafF/NFE2 hetrodimers act as weak transcriptional activators, and, in particular, are able to stimulate activity of the GCS1 promoter.
Title: Cloning MafF by recognition site screening with the NFE2 tandem repeat of HS2: analysis of its role in globin and GCSl genes regulation.

Submit: New GeneRIF Correction See all GeneRIFs (12)

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

SHGC-106918 (e-PCR)
- UniSTS:183569

D16S325 (e-PCR)
- UniSTS:147089

D22S1054 (e-PCR)
- UniSTS:153247

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in in utero embryonic development	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in parturition	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of epidermal cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	NAS Non-traceable Author Statement more info	PubMed
involved_in skeletal muscle cell differentiation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in mitochondrion	IDA Inferred from Direct Assay 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
located_in nucleus	NAS Non-traceable Author Statement more info	PubMed

General protein information

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Preferred Names: transcription factor MafF

Names: v-maf avian musculoaponeurotic fibrosarcoma oncogene family protein F; v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F

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_001161572.2 → NP_001155044.1 transcription factor MafF isoform a

See identical proteins and their annotated locations for NP_001155044.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) represents the longest transcript and encodes the longer isoform (a). Variants 1, 3, and 4 encode the same isoform (a).

Source sequence(s)

AI610651, AJ010857, AK002001, DA209378, DA654696, DB319587

Consensus CDS

CCDS13968.1

UniProtKB/Swiss-Prot

B4DV49, Q9ULX9, Q9Y525

Related

ENSP00000442060.1, ENST00000538320.5

Conserved Domains (3) summary

PRK13729
Location:78 → 162

PRK13729; conjugal transfer pilus assembly protein TraB; Provisional

cd14717
Location:47 → 115

bZIP_Maf_small; coiled coil [structural motif]

pfam03131
Location:24 → 115

bZIP_Maf; bZIP Maf transcription factor
NM_001161573.1 → NP_001155045.1 transcription factor MafF isoform a

See identical proteins and their annotated locations for NP_001155045.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 3. Variants 1, 3, and 4 encode the same isoform (a).

Source sequence(s)

AI610651, AJ010857, AK002001, DA425613, DB319587

Consensus CDS

CCDS13968.1

UniProtKB/Swiss-Prot

B4DV49, Q9ULX9, Q9Y525

Related

ENSP00000388882.2, ENST00000426621.6

Conserved Domains (3) summary

PRK13729
Location:78 → 162

PRK13729; conjugal transfer pilus assembly protein TraB; Provisional

cd14717
Location:47 → 115

bZIP_Maf_small; coiled coil [structural motif]

pfam03131
Location:24 → 115

bZIP_Maf; bZIP Maf transcription factor
NM_001161574.2 → NP_001155046.1 transcription factor MafF isoform b

See identical proteins and their annotated locations for NP_001155046.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks the exon containing the translation start site compared to variant 3. The resulting isoform (b) is shorter at the N-terminus compared to isoform a.

Source sequence(s)

AI610651, AJ010857, AK002001, AK300932, DA209378, DB319587

Consensus CDS

CCDS54528.1

UniProtKB/Swiss-Prot

Q9ULX9

Related

ENSP00000441482.1, ENST00000538999.1

Conserved Domains (2) summary

cd14717
Location:18 → 86

bZIP_Maf_small; Basic leucine zipper (bZIP) domain of small musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain

pfam08172
Location:48 → 128

CASP_C; CASP C terminal
NM_012323.4 → NP_036455.1 transcription factor MafF isoform a

See identical proteins and their annotated locations for NP_036455.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) differs in the 5' UTR compared to variant 3. Variants 1, 3, and 4 encode the same isoform (a).

Source sequence(s)

AI610651, AJ010857, AK002001, DA209378, DA654696, DB319587

Consensus CDS

CCDS13968.1

UniProtKB/Swiss-Prot

B4DV49, Q9ULX9, Q9Y525

Related

ENSP00000345393.2, ENST00000338483.7

Conserved Domains (3) summary

PRK13729
Location:78 → 162

PRK13729; conjugal transfer pilus assembly protein TraB; Provisional

cd14717
Location:47 → 115

bZIP_Maf_small; coiled coil [structural motif]

pfam03131
Location:24 → 115

bZIP_Maf; bZIP Maf transcription factor

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

38201994..38216511

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047441270.1 → XP_047297226.1 transcription factor MafF isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

38666346..38680861

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325415.1 → XP_054181390.1 transcription factor MafF isoform X1

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_152878.1: Suppressed sequence

Description

NM_152878.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.