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

Gene ID: 23764, updated on 1-Jun-2020

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
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

Genomic context

See MAFF in Genome Data Viewer
Location:
22q13.1
Exon count:
4
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 22 NC_000022.11 (38201932..38216511)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (38597939..38612518)

Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene BAR/IMD domain containing adaptor protein 2 like 2 Neighboring gene phospholipase A2 group VI Neighboring gene Sharpr-MPRA regulatory region 6169 Neighboring gene transmembrane protein 184B Neighboring gene small nucleolar RNA, H/ACA box 92 Neighboring gene RNA, 7SL, cytoplasmic 704, pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Process Evidence Code Pubs
blood coagulation TAS
Traceable Author Statement
more info
 
in utero embryonic development IEA
Inferred from Electronic Annotation
more info
 
parturition TAS
Traceable Author Statement
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of epidermal cell differentiation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
skeletal muscle cell differentiation IEA
Inferred from Electronic Annotation
more info
 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
host cell nucleus IEA
Inferred from Electronic Annotation
more info
 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nuclear chromatin ISA
Inferred from Sequence Alignment
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
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)

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_001161572.1NP_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
    Q9ULX9
    Related
    ENSP00000442060.1, ENST00000538320.5
    Conserved Domains (3) summary
    PRK13729
    Location:78162
    PRK13729; conjugal transfer pilus assembly protein TraB; Provisional
    cd14717
    Location:47115
    bZIP_Maf_small; coiled coil [structural motif]
    pfam03131
    Location:24115
    bZIP_Maf; bZIP Maf transcription factor
  2. NM_001161573.1NP_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
    Q9ULX9
    Related
    ENSP00000388882.2, ENST00000426621.6
    Conserved Domains (3) summary
    PRK13729
    Location:78162
    PRK13729; conjugal transfer pilus assembly protein TraB; Provisional
    cd14717
    Location:47115
    bZIP_Maf_small; coiled coil [structural motif]
    pfam03131
    Location:24115
    bZIP_Maf; bZIP Maf transcription factor
  3. NM_001161574.1NP_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:1886
    bZIP_Maf_small; Basic leucine zipper (bZIP) domain of small musculoaponeurotic fibrosarcoma (Maf) proteins: a DNA-binding and dimerization domain
    pfam08172
    Location:48128
    CASP_C; CASP C terminal
  4. NM_012323.4NP_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
    Q9ULX9
    Related
    ENSP00000345393.2, ENST00000338483.7
    Conserved Domains (3) summary
    PRK13729
    Location:78162
    PRK13729; conjugal transfer pilus assembly protein TraB; Provisional
    cd14717
    Location:47115
    bZIP_Maf_small; coiled coil [structural motif]
    pfam03131
    Location:24115
    bZIP_Maf; bZIP Maf transcription factor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000022.11 Reference GRCh38.p13 Primary Assembly

    Range
    38201932..38216511
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.
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