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

    Gene ID: 23764, updated on 10-Dec-2024

    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
    NEW
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    General gene information

    Gene Ontology Provided by GOA

    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex PubMed 
    located_in chromatin  
    located_in mitochondrion  
    located_in nucleoplasm  
    located_in nucleoplasm  
    is_active_in nucleus  
    located_in nucleus PubMed 

    General protein information

    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)

    NEW Try the new Transcript table

    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

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