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

    Gene ID: 23764, updated on 28-Oct-2024

    Summary

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    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

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    See MAFF in Genome Data Viewer
    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_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38482017-38482796 Neighboring gene BAR/IMD domain containing adaptor protein 2 like 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38494339-38494893 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38510521-38511423 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38518609-38519118 Neighboring gene phospholipase A2 group VI Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38538756-38539256 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18993 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38559728-38560228 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38560229-38560729 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38561911 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38570189 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38572440 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18995 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18996 Neighboring gene Sharpr-MPRA regulatory region 6169 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38580917 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18999 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13707 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13709 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38600595 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13710 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38603571 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38607237 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38607534 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 22:38608227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38609813-38610394 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13711 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13712 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr22:38614213-38615412 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38618750-38619250 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:38620666-38621166 Neighboring gene transmembrane protein 184B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:38624990-38625720 Neighboring gene TMEM184B antisense RNA 1 Neighboring gene small nucleolar RNA, H/ACA box 92 Neighboring gene RNA, 7SL, cytoplasmic 704, pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Molecular cloning of a human MafF homologue, which specifically binds to the oxytocin receptor gene in term myometrium. Kimura T, et al. Biochem Biophys Res Commun, 1999 Oct 14. PMID 10527846
    2. Differential induction of mafF, mafG and mafK expression by electrophile-response-element activators. Moran JA, et al. Biochem J, 2002 Jan 15. PMID 11772409, Free PMC Article
    3. MafF Is an Antiviral Host Factor That Suppresses Transcription from Hepatitis B Virus Core Promoter. Ibrahim MK, et al. J Virol, 2021 Jul 12. PMID 33980595, Free PMC Article
    4. Alternative splicing related genetic variants contribute to bladder cancer risk. Guo Z, et al. Mol Carcinog, 2020 Aug. PMID 32339354
    5. Responsive Expression of MafF to β-Amyloid-Induced Oxidative Stress. Wang X, et al. Dis Markers, 2020. PMID 33488846, Free PMC Article

    See all (56) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Responsive Expression of MafF to beta-Amyloid-Induced Oxidative Stress.
      Title: Responsive Expression of MafF to β-Amyloid-Induced Oxidative Stress.
    2. 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.
    3. 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.
    4. 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.
    5. Alternative splicing related genetic variants contribute to bladder cancer risk.
      Title: Alternative splicing related genetic variants contribute to bladder cancer risk.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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)

    Genotypes

    Pathways from PubChem

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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

    Homology

    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)

    1. 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

    2. 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

    3. 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

    4. 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

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      38201994..38216511
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      38666346..38680861
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_152878.1: Suppressed sequence

      Description
      NM_152878.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9ULX9.2 GenPept UniProtKB/Swiss-Prot:Q9ULX9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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