Human Gene MAFK (ENST00000343242.9_4) from GENCODE V47lift37
  Description: MAF bZIP transcription factor K (from RefSeq NM_002360.4)
Gencode Transcript: ENST00000343242.9_4
Gencode Gene: ENSG00000198517.10_11
Transcript (Including UTRs)
   Position: hg19 chr7:1,570,338-1,582,679 Size: 12,342 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr7:1,578,829-1,580,011 Size: 1,183 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 (chr7:1,570,338-1,582,679)mRNA (may differ from genome)Protein (156 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MAFK_HUMAN
DESCRIPTION: RecName: Full=Transcription factor MafK; AltName: Full=Erythroid transcription factor NF-E2 p18 subunit;
FUNCTION: Since they lack a putative transactivation domain, the small Mafs behave as transcriptional repressors when they dimerize among themselves. However, they seem to serve as transcriptional activators by dimerizing with other (usually larger) basic-zipper proteins and recruiting them to specific DNA-binding sites. Small Maf proteins heterodimerize with Fos and may act as competitive repressors of the NF-E2 transcription factor.
SUBUNIT: Homodimer or heterodimer. It can form high affinity heterodimers with members of the CNC-bZIP family such as NFE2, NFE2L1/NRF1, NFE2L2/NRF2 and NFE2L3/NRF3.
SUBCELLULAR LOCATION: Nucleus.
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: MAFK
Diseases sorted by gene-association score: fibrosarcoma (9)

-  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: 14.94 RPKM in Colon - Sigmoid
Total median expression: 295.27 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 -135.60241-0.563 Picture PostScript Text
3' UTR -1216.702668-0.456 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
57959 - Leucine zipper domain

ModBase Predicted Comparative 3D Structure on O60675
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    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000976 transcription regulatory region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001221 transcription cofactor binding
GO:0001227 transcriptional repressor 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
GO:0071535 RING-like zinc finger domain binding

Biological Process:
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007399 nervous system development
GO:0007596 blood coagulation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm


-  Descriptions from all associated GenBank mRNAs
  AF059194 - Homo sapiens basic-leucine zipper transcription factor MafK (MAFK) mRNA, complete cds.
JD142343 - Sequence 123367 from Patent EP1572962.
AK092414 - Homo sapiens cDNA FLJ35095 fis, clone PLACE6006186, highly similar to TRANSCRIPTION FACTOR MAFK.
JD056873 - Sequence 37897 from Patent EP1572962.
AB385535 - Synthetic construct DNA, clone: pF1KB4144, Homo sapiens MAFK gene for transcription factor MafK, complete cds, without stop codon, in Flexi system.
BC152387 - Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian), mRNA (cDNA clone IMAGE:100013448).
KJ892455 - Synthetic construct Homo sapiens clone ccsbBroadEn_01849 MAFK gene, encodes complete protein.
BC148265 - Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian) (MAFK) mRNA, partial cds.
JD211281 - Sequence 192305 from Patent EP1572962.
BC143040 - Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian), mRNA (cDNA clone IMAGE:40117688).
BC143041 - Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian), mRNA (cDNA clone IMAGE:40117689).
BC148194 - Homo sapiens cDNA clone IMAGE:40078966.
JD453013 - Sequence 434037 from Patent EP1572962.
JD065305 - Sequence 46329 from Patent EP1572962.
JD534671 - Sequence 515695 from Patent EP1572962.
JD369626 - Sequence 350650 from Patent EP1572962.
JD232777 - Sequence 213801 from Patent EP1572962.
JD292472 - Sequence 273496 from Patent EP1572962.
DQ571383 - Homo sapiens piRNA piR-31495, complete sequence.
AK056767 - Homo sapiens cDNA FLJ32205 fis, clone PLACE6003094.
AL831913 - Homo sapiens mRNA; cDNA DKFZp547K209 (from clone DKFZp547K209).
JD102668 - Sequence 83692 from Patent EP1572962.
JD495842 - Sequence 476866 from Patent EP1572962.
DQ587075 - Homo sapiens piRNA piR-54187, complete sequence.
BC012777 - Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog K (avian), mRNA (cDNA clone IMAGE:3939387).
JD409861 - Sequence 390885 from Patent EP1572962.
JD472132 - Sequence 453156 from Patent EP1572962.
JD400798 - Sequence 381822 from Patent EP1572962.
JD074754 - Sequence 55778 from Patent EP1572962.
JD255259 - Sequence 236283 from Patent EP1572962.
JD139719 - Sequence 120743 from Patent EP1572962.
JD147817 - Sequence 128841 from Patent EP1572962.
JD464701 - Sequence 445725 from Patent EP1572962.
JD473717 - Sequence 454741 from Patent EP1572962.
JD385284 - Sequence 366308 from Patent EP1572962.
BC094871 - Homo sapiens cDNA clone IMAGE:6256062.
JD443206 - Sequence 424230 from Patent EP1572962.
JD537209 - Sequence 518233 from Patent EP1572962.
JD478988 - Sequence 460012 from Patent EP1572962.
JD481713 - Sequence 462737 from Patent EP1572962.
JD057835 - Sequence 38859 from Patent EP1572962.
JD406208 - Sequence 387232 from Patent EP1572962.
JD386491 - Sequence 367515 from Patent EP1572962.
JD204184 - Sequence 185208 from Patent EP1572962.
JD399662 - Sequence 380686 from Patent EP1572962.
JD394470 - Sequence 375494 from Patent EP1572962.
JD411035 - Sequence 392059 from Patent EP1572962.

-  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 O60675 (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: A4D214, ENST00000343242.1, ENST00000343242.2, ENST00000343242.3, ENST00000343242.4, ENST00000343242.5, ENST00000343242.6, ENST00000343242.7, ENST00000343242.8, MAFK_HUMAN, NM_002360, O60675, uc317woy.1, uc317woy.2
UCSC ID: ENST00000343242.9_4
RefSeq Accession: NM_002360.4
Protein: O60675 (aka MAFK_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.