Human Gene MAFB (ENST00000373313.3_6) from GENCODE V47lift37
  Description: MAF bZIP transcription factor B (from RefSeq NM_005461.5)
Gencode Transcript: ENST00000373313.3_6
Gencode Gene: ENSG00000204103.4_8
Transcript (Including UTRs)
   Position: hg19 chr20:39,314,488-39,317,876 Size: 3,389 Total Exon Count: 1 Strand: -
Coding Region
   Position: hg19 chr20:39,316,519-39,317,490 Size: 972 Coding Exon Count: 1 

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Gene AllelesRNA-Seq ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr20:39,314,488-39,317,876)mRNA (may differ from genome)Protein (323 aa)
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-  Comments and Description Text from UniProtKB
  ID: MAFB_HUMAN
DESCRIPTION: RecName: Full=Transcription factor MafB; Short=Maf-B; AltName: Full=V-maf musculoaponeurotic fibrosarcoma oncogene homolog B;
FUNCTION: Acts as a transcriptional activator or repressor. Plays a pivotal role in regulating lineage-specific hematopoiesis by repressing ETS1-mediated transcription of erythroid-specific genes in myeloid cells. Required for monocytic, macrophage, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon promoters. Together with PAX6, transactivates weakly the glucagon gene promoter through the G1 element. SUMO modification controls its transcriptional activity and ability to specify macrophage fate. Binds element G1 on the glucagon promoter (By similarity). Involved either as an oncogene or as a tumor suppressor, depending on the cell context.
SUBUNIT: Homodimer or heterodimer with other bHLH-Zip transcription factors. Binds DNA as a homodimer or a heterodimer. Forms homodimers and heterodimers with FOS, FOSB and FOSL2, but not with JUN proteins (JUN, JUNB and JUND). Interacts with PAX6; the interaction is direct. Interacts with ETS1 and LRP1 (By similarity). Interacts with the intracellular cytoplasmic domain of LRP1 (LRPICD); the interaction results in a moderate reduction of MAFB transcriptional potential.
INTERACTION: Q14653:IRF3; NbExp=4; IntAct=EBI-3649340, EBI-2650369;
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Ubiquitous.
DOMAIN: The leucine-zipper domain is involved in the interaction with LRPICD.
PTM: Phosphorylated by GSK3 and MAPK13 on serine and threonine residues (Probable).
PTM: Sumoylated. Sumoylation on Lys-32 and Lys-297 stimulates its transcriptional repression activity and promotes macrophage differentiation from myeloid progenitors (By similarity).
DISEASE: Defects in MAFB are the cause of multicentric carpotarsal osteolysis syndrome (MCTO) [MIM:166300]. MCTO is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients.
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: MAFB
Diseases sorted by gene-association score: multicentric carpotarsal osteolysis syndrome* (1692), duane retraction syndrome 3* (919), duane retraction syndrome 1* (400), duane syndrome type 1* (400), duane syndrome type 2* (400), duane syndrome type 3* (400), multicentric osteolysis nephropathy* (400), duane retraction syndrome 2* (283), duane retraction syndrome* (261), fibrosarcoma (21), amblyopia (8), theileriasis (8), hypoparathyroidism-deafness-renal disease syndrome (7), monoclonal gammopathy of uncertain significance (5)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 90.17 RPKM in Spleen
Total median expression: 570.28 RPKM



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

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -173.00386-0.448 Picture PostScript Text
3' UTR -680.602031-0.335 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
IPR013592 - Maf_TF_N
IPR024874 - Transciption_factor_Maf

Pfam Domains:
PF03131 - bZIP Maf transcription factor
PF08383 - Maf N-terminal region

SCOP Domains:
46589 - tRNA-binding arm
47454 - A DNA-binding domain in eukaryotic transcription factors
75704 - Mitotic arrest deficient-like 1, Mad1
57959 - Leucine zipper domain

ModBase Predicted Comparative 3D Structure on Q9Y5Q3
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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 Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0005515 protein binding
GO:0008134 transcription factor binding
GO:0042803 protein homodimerization activity
GO:0046982 protein heterodimerization activity
GO:1990837 sequence-specific double-stranded DNA binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007379 segment specification
GO:0007399 nervous system development
GO:0007423 sensory organ development
GO:0007585 respiratory gaseous exchange
GO:0021571 rhombomere 5 development
GO:0021572 rhombomere 6 development
GO:0021599 abducens nerve formation
GO:0033077 T cell differentiation in thymus
GO:0035284 brain segmentation
GO:0042472 inner ear morphogenesis
GO:0045647 negative regulation of erythrocyte differentiation
GO:0045671 negative regulation of osteoclast differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048538 thymus development

Cellular Component:
GO:0005634 nucleus
GO:0005667 transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  AF134157 - Homo sapiens MAFB/Kreisler basic region/leucine zipper transcription factor (MAFB) mRNA, complete cds.
BC036689 - Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian), mRNA (cDNA clone MGC:43127 IMAGE:5261053), complete cds.
JD554689 - Sequence 535713 from Patent EP1572962.
JD073753 - Sequence 54777 from Patent EP1572962.
JD172044 - Sequence 153068 from Patent EP1572962.
JD380779 - Sequence 361803 from Patent EP1572962.
AF086178 - Homo sapiens full length insert cDNA clone ZB96C02.
BC028098 - Homo sapiens v-maf musculoaponeurotic fibrosarcoma oncogene homolog B (avian), mRNA (cDNA clone MGC:39981 IMAGE:5242606), complete cds.
AK027324 - Homo sapiens cDNA FLJ14418 fis, clone HEMBA1005548, highly similar to Transcription factor MafB.
JD213949 - Sequence 194973 from Patent EP1572962.
JD297160 - Sequence 278184 from Patent EP1572962.
JD482198 - Sequence 463222 from Patent EP1572962.
JD224413 - Sequence 205437 from Patent EP1572962.
JD524632 - Sequence 505656 from Patent EP1572962.
JD039797 - Sequence 20821 from Patent EP1572962.
JD421186 - Sequence 402210 from Patent EP1572962.
JD076229 - Sequence 57253 from Patent EP1572962.
JD175205 - Sequence 156229 from Patent EP1572962.
JD043542 - Sequence 24566 from Patent EP1572962.
JD243335 - Sequence 224359 from Patent EP1572962.
JD053678 - Sequence 34702 from Patent EP1572962.
JD487600 - Sequence 468624 from Patent EP1572962.
JD329643 - Sequence 310667 from Patent EP1572962.
JD407120 - Sequence 388144 from Patent EP1572962.
JD291450 - Sequence 272474 from Patent EP1572962.
JD255521 - Sequence 236545 from Patent EP1572962.
AB464740 - Synthetic construct DNA, clone: pF1KB9658, Homo sapiens MAFB gene for v-maf musculoaponeurotic fibrosarcoma oncogene homolog B, without stop codon, in Flexi system.
KJ898120 - Synthetic construct Homo sapiens clone ccsbBroadEn_07514 MAFB gene, encodes complete protein.
JD462928 - Sequence 443952 from Patent EP1572962.
JD148901 - Sequence 129925 from Patent EP1572962.
JD461998 - Sequence 443022 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9Y5Q3 (Reactome details) participates in the following event(s):

R-HSA-5617472 Activation of anterior HOX genes in hindbrain development during early embryogenesis
R-HSA-5619507 Activation of HOX genes during differentiation
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: B3KNE1, ENST00000373313.1, ENST00000373313.2, KRML, MAFB_HUMAN, NM_005461, Q9H1F1, Q9Y5Q3, uc318krc.1, uc318krc.2
UCSC ID: ENST00000373313.3_6
RefSeq Accession: NM_005461.5
Protein: Q9Y5Q3 (aka MAFB_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene MAFB:
duane (Duane Syndrome)

-  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.