Human Gene MAFF (ENST00000338483.7_6) from GENCODE V47lift37
  Description: MAF bZIP transcription factor F, transcript variant 1 (from RefSeq NM_012323.4)
Gencode Transcript: ENST00000338483.7_6
Gencode Gene: ENSG00000185022.12_12
Transcript (Including UTRs)
   Position: hg19 chr22:38,598,001-38,612,514 Size: 14,514 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr22:38,609,861-38,610,885 Size: 1,025 Coding Exon Count: 2 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr22:38,598,001-38,612,514)mRNA (may differ from genome)Protein (164 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MAFF_HUMAN
DESCRIPTION: RecName: Full=Transcription factor MafF; AltName: Full=U-Maf; AltName: Full=V-maf musculoaponeurotic fibrosarcoma oncogene homolog F;
FUNCTION: Interacts with the upstream promoter region of the oxytocin receptor gene. May be a transcriptional enhancer in the up-regulation of the oxytocin receptor gene at parturition. Since it lacks a putative transactivation domain, it may behave as a transcriptional repressor when it dimerize among himself. May also serve as a transcriptional activator by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific DNA-binding sites. May be involved in the cellular stress response.
SUBUNIT: Monomer and homo- or heterodimer. Interacts with MIP.
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in the term myometrium and kidney.
INDUCTION: By oxidative stress.
SIMILARITY: Belongs to the bZIP family. Maf subfamily.
SIMILARITY: Contains 1 bZIP (basic-leucine zipper) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MAFF
Diseases sorted by gene-association score: fibrosarcoma (24), ulnar neuropathy (9), placental choriocarcinoma (7)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 55.51 RPKM in Adipose - Visceral (Omentum)
Total median expression: 785.77 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -113.20250-0.453 Picture PostScript Text
3' UTR -617.101629-0.379 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR004827 - bZIP
IPR004826 - bZIP_Maf
IPR008917 - Euk_TF_DNA-bd
IPR024874 - Transciption_factor_Maf

Pfam Domains:
PF03131 - bZIP Maf transcription factor

SCOP Domains:
47454 - A DNA-binding domain in eukaryotic transcription factors
58050 - N-terminal coiled coil domain from apc
57959 - Leucine zipper domain

ModBase Predicted Comparative 3D Structure on Q9ULX9
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding

Biological Process:
GO:0001701 in utero embryonic development
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0007567 parturition
GO:0007596 blood coagulation
GO:0035914 skeletal muscle cell differentiation
GO:0045604 regulation of epidermal cell differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005739 mitochondrion


-  Descriptions from all associated GenBank mRNAs
  LF210361 - JP 2014500723-A/17864: Polycomb-Associated Non-Coding RNAs.
AK002001 - Homo sapiens cDNA FLJ11139 fis, clone PLACE1006482, highly similar to TRANSCRIPTION FACTOR MAFF.
BC067751 - Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog F (avian), mRNA (cDNA clone MGC:87020 IMAGE:30335753), complete cds.
AK300932 - Homo sapiens cDNA FLJ57607 complete cds, highly similar to Transcription factor MafF.
AJ010857 - Homo sapiens mRNA for MAFF protein.
BC015037 - Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog F (avian), mRNA (cDNA clone MGC:9262 IMAGE:3922552), complete cds.
JD463381 - Sequence 444405 from Patent EP1572962.
AB025247 - Homo sapiens U-Maf mRNA for Maf-related DNA binding protein, complete cds.
LF213799 - JP 2014500723-A/21302: Polycomb-Associated Non-Coding RNAs.
AK097953 - Homo sapiens cDNA FLJ40634 fis, clone THYMU2015775, highly similar to TRANSCRIPTION FACTOR MAFF.
KJ893447 - Synthetic construct Homo sapiens clone ccsbBroadEn_02841 MAFF gene, encodes complete protein.
JD024646 - Sequence 5670 from Patent EP1572962.
JD031500 - Sequence 12524 from Patent EP1572962.
JD378171 - Sequence 359195 from Patent EP1572962.
JD390611 - Sequence 371635 from Patent EP1572962.
JD417158 - Sequence 398182 from Patent EP1572962.
JD536966 - Sequence 517990 from Patent EP1572962.
JD067907 - Sequence 48931 from Patent EP1572962.
JD431489 - Sequence 412513 from Patent EP1572962.
JD165588 - Sequence 146612 from Patent EP1572962.
JD484278 - Sequence 465302 from Patent EP1572962.
LF337273 - JP 2014500723-A/144776: Polycomb-Associated Non-Coding RNAs.
JD467592 - Sequence 448616 from Patent EP1572962.
JD511112 - Sequence 492136 from Patent EP1572962.
JD172770 - Sequence 153794 from Patent EP1572962.
LF337274 - JP 2014500723-A/144777: Polycomb-Associated Non-Coding RNAs.
JD302120 - Sequence 283144 from Patent EP1572962.
JD038174 - Sequence 19198 from Patent EP1572962.
JD287554 - Sequence 268578 from Patent EP1572962.
JD234678 - Sequence 215702 from Patent EP1572962.
LF337275 - JP 2014500723-A/144778: Polycomb-Associated Non-Coding RNAs.
JD109063 - Sequence 90087 from Patent EP1572962.
JD318345 - Sequence 299369 from Patent EP1572962.
LF337276 - JP 2014500723-A/144779: Polycomb-Associated Non-Coding RNAs.
JD419230 - Sequence 400254 from Patent EP1572962.
JD450328 - Sequence 431352 from Patent EP1572962.
JD473021 - Sequence 454045 from Patent EP1572962.
JD445981 - Sequence 427005 from Patent EP1572962.
JD485334 - Sequence 466358 from Patent EP1572962.
JD068130 - Sequence 49154 from Patent EP1572962.
JD186428 - Sequence 167452 from Patent EP1572962.
JD066035 - Sequence 47059 from Patent EP1572962.
JD445448 - Sequence 426472 from Patent EP1572962.
JD336139 - Sequence 317163 from Patent EP1572962.
JD384452 - Sequence 365476 from Patent EP1572962.
JD384957 - Sequence 365981 from Patent EP1572962.
JD316771 - Sequence 297795 from Patent EP1572962.
JD453878 - Sequence 434902 from Patent EP1572962.
JD399865 - Sequence 380889 from Patent EP1572962.
JD525966 - Sequence 506990 from Patent EP1572962.
JD124327 - Sequence 105351 from Patent EP1572962.
JD120681 - Sequence 101705 from Patent EP1572962.
JD367781 - Sequence 348805 from Patent EP1572962.
JD100705 - Sequence 81729 from Patent EP1572962.
LF337277 - JP 2014500723-A/144780: Polycomb-Associated Non-Coding RNAs.
JD481945 - Sequence 462969 from Patent EP1572962.
JD445993 - Sequence 427017 from Patent EP1572962.
JD077496 - Sequence 58520 from Patent EP1572962.
JD083147 - Sequence 64171 from Patent EP1572962.
JD533080 - Sequence 514104 from Patent EP1572962.
JD428961 - Sequence 409985 from Patent EP1572962.
JD237069 - Sequence 218093 from Patent EP1572962.
JD310135 - Sequence 291159 from Patent EP1572962.
JD335194 - Sequence 316218 from Patent EP1572962.
JD456777 - Sequence 437801 from Patent EP1572962.
JD117082 - Sequence 98106 from Patent EP1572962.
JD425308 - Sequence 406332 from Patent EP1572962.
JD317206 - Sequence 298230 from Patent EP1572962.
MA445938 - JP 2018138019-A/17864: Polycomb-Associated Non-Coding RNAs.
MA449376 - JP 2018138019-A/21302: Polycomb-Associated Non-Coding RNAs.
MA572850 - JP 2018138019-A/144776: Polycomb-Associated Non-Coding RNAs.
MA572851 - JP 2018138019-A/144777: Polycomb-Associated Non-Coding RNAs.
MA572852 - JP 2018138019-A/144778: Polycomb-Associated Non-Coding RNAs.
MA572853 - JP 2018138019-A/144779: Polycomb-Associated Non-Coding RNAs.
MA572854 - JP 2018138019-A/144780: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_arenrf2Pathway - Oxidative Stress Induced Gene Expression Via Nrf2

Reactome (by CSHL, EBI, and GO)

Protein Q9ULX9 (Reactome details) participates in the following event(s):

R-HSA-1008240 NFE2 is a heterodimer
R-HSA-1008200 NFE2 binds the beta globin locus control region
R-HSA-983231 Factors involved in megakaryocyte development and platelet production
R-HSA-109582 Hemostasis

-  Other Names for This Gene
  Alternate Gene Symbols: B4DV49, ENST00000338483.1, ENST00000338483.2, ENST00000338483.3, ENST00000338483.4, ENST00000338483.5, ENST00000338483.6, MAFF_HUMAN, NM_012323, Q9ULX9, Q9Y525, uc317vav.1, uc317vav.2
UCSC ID: ENST00000338483.7_6
RefSeq Accession: NM_012323.4
Protein: Q9ULX9 (aka MAFF_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.