Human Gene MAF1 (uc003zbc.1) Description and Page Index
  Description: Homo sapiens MAF1 homolog (S. cerevisiae) (MAF1), mRNA.
RefSeq Summary (NM_032272): This gene encodes a protein that is similar to Maf1, a Saccharomyces cerevisiae protein highly conserved in eukaryotic cells. Yeast Maf1 is a negative effector of RNA polymerase III (Pol III). It responds to changes in the cellular environment and represses pol III transcription. Biochemical studies identified the initiation factor TFIIIB as a target for Maf1-dependent repression. [provided by RefSeq, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR3476690.76158.1, SRR3476690.406554.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1965299, SAMEA1966682 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000322428.10/ ENSP00000318604.5 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END##
Transcript (Including UTRs)
   Position: hg19 chr8:145,159,305-145,162,515 Size: 3,211 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg19 chr8:145,160,587-145,162,012 Size: 1,426 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsCTDGene AllelesRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
PathwaysOther NamesModel InformationMethods
Data last updated: 2013-06-14

-  Sequence and Links to Tools and Databases
Genomic Sequence (chr8:145,159,305-145,162,515)mRNA (may differ from genome)Protein (256 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
BioGPSCGAPEnsemblEntrez GeneExonPrimerGeneCards
neXtProtOMIMPubMedReactomeStanford SOURCETreefam

-  Comments and Description Text from UniProtKB
DESCRIPTION: RecName: Full=Repressor of RNA polymerase III transcription MAF1 homolog;
FUNCTION: Element of the mTORC1 signaling pathway that acts as a mediator of diverse signals and that represses RNA polymerase III transcription. Inhibits the de novo assembly of TFIIIB onto DNA.
SUBUNIT: Interacts with BRF2.
PTM: Phosphorylated at Ser-60, Ser-68 and Ser-75; the major sites of phosphorylation. Nuclear accumulation correlates with a concomitant dephosphorylation. Phosphorylation may attenuate its RNA polymerase III-repressive function.
SIMILARITY: Belongs to the MAF1 family.

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

+  Common Gene Haplotype Alleles
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-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 92.17 RPKM in Colon - Sigmoid
Total median expression: 2337.37 RPKM

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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -275.70501-0.550 Picture PostScript Text
3' UTR -206.10503-0.410 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
IPR015257 - Maf1
IPR017152 - RNA_pol_III_tscrpt_repres_MAF1

Pfam Domains:
PF09174 - Maf1 regulator

Protein Data Bank (PDB) 3-D Structure
MuPIT help

- X-ray MuPIT

ModBase Predicted Comparative 3D Structure on Q9H063
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 orthologGenome BrowserGenome BrowserGenome BrowserGenome BrowserGenome Browser
Gene DetailsGene Details Gene DetailsGene DetailsGene Details
Gene SorterGene Sorter Gene SorterGene SorterGene Sorter
 Protein SequenceProtein SequenceProtein SequenceProtein SequenceProtein Sequence

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000994 RNA polymerase III core binding
GO:0001030 RNA polymerase III type 1 promoter DNA binding
GO:0001031 RNA polymerase III type 2 promoter DNA binding
GO:0001032 RNA polymerase III type 3 promoter DNA binding
GO:0050811 GABA receptor binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0016480 negative regulation of transcription from RNA polymerase III promoter

Cellular Component:
GO:0005622 intracellular
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005730 nucleolus
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0030424 axon
GO:0030425 dendrite
GO:0043231 intracellular membrane-bounded organelle
GO:0048471 perinuclear region of cytoplasm
GO:0060077 inhibitory synapse

-  Descriptions from all associated GenBank mRNAs
  LP895597 - Sequence 461 from Patent EP3253886.
LF210327 - JP 2014500723-A/17830: Polycomb-Associated Non-Coding RNAs.
LF337109 - JP 2014500723-A/144612: Polycomb-Associated Non-Coding RNAs.
BC031273 - Homo sapiens MAF1 homolog (S. cerevisiae), mRNA (cDNA clone MGC:39758 IMAGE:5288176), complete cds.
BC018714 - Homo sapiens MAF1 homolog (S. cerevisiae), mRNA (cDNA clone MGC:31779 IMAGE:5014952), complete cds.
BC014082 - Homo sapiens MAF1 homolog (S. cerevisiae), mRNA (cDNA clone MGC:20332 IMAGE:4304506), complete cds.
AL136937 - Homo sapiens mRNA; cDNA DKFZp586G1123 (from clone DKFZp586G1123).
JD227738 - Sequence 208762 from Patent EP1572962.
JD104650 - Sequence 85674 from Patent EP1572962.
JD099062 - Sequence 80086 from Patent EP1572962.
JD392258 - Sequence 373282 from Patent EP1572962.
CU689142 - Synthetic construct Homo sapiens gateway clone IMAGE:100018623 5' read MAF1 mRNA.
HQ447420 - Synthetic construct Homo sapiens clone IMAGE:100070743; CCSB002232_04 MAF1 homolog (S. cerevisiae) (MAF1) gene, encodes complete protein.
JF432786 - Synthetic construct Homo sapiens clone IMAGE:100074031 MAF1 homolog (S. cerevisiae) (MAF1) gene, encodes complete protein.
KJ899764 - Synthetic construct Homo sapiens clone ccsbBroadEn_09158 MAF1 gene, encodes complete protein.
KJ899765 - Synthetic construct Homo sapiens clone ccsbBroadEn_09159 MAF1 gene, encodes complete protein.
CR533463 - Homo sapiens full open reading frame cDNA clone RZPDo834C0317D for gene MAF1, homolog of yeast MAF1; complete cds, incl. stopcodon.
LF337110 - JP 2014500723-A/144613: Polycomb-Associated Non-Coding RNAs.
LF337112 - JP 2014500723-A/144615: Polycomb-Associated Non-Coding RNAs.
JD532912 - Sequence 513936 from Patent EP1572962.
JD127955 - Sequence 108979 from Patent EP1572962.
JD111368 - Sequence 92392 from Patent EP1572962.
JD286486 - Sequence 267510 from Patent EP1572962.
JD227248 - Sequence 208272 from Patent EP1572962.
JD385589 - Sequence 366613 from Patent EP1572962.
JD456715 - Sequence 437739 from Patent EP1572962.
JD386571 - Sequence 367595 from Patent EP1572962.
JD278182 - Sequence 259206 from Patent EP1572962.
MA445904 - JP 2018138019-A/17830: Polycomb-Associated Non-Coding RNAs.
MA572686 - JP 2018138019-A/144612: Polycomb-Associated Non-Coding RNAs.
MA572687 - JP 2018138019-A/144613: Polycomb-Associated Non-Coding RNAs.
MA572689 - JP 2018138019-A/144615: Polycomb-Associated Non-Coding RNAs.

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

Protein Q9H063 (Reactome details) participates in the following event(s):

R-HSA-8944420 MAF1 binds the PTEN gene promoter
R-HSA-8944454 mTORC1 phosphorylates MAF1
R-HSA-8943724 Regulation of PTEN gene transcription
R-HSA-6807070 PTEN Regulation
R-HSA-1257604 PIP3 activates AKT signaling
R-HSA-9006925 Intracellular signaling by second messengers
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: D3DWL4, MAF1_HUMAN, NM_032272, NP_115648, Q9H063
UCSC ID: uc003zbc.1
RefSeq Accession: NM_032272
Protein: Q9H063 (aka MAF1_HUMAN)
CCDS: CCDS6416.1

-  Gene Model Information
category: coding nonsense-mediated-decay: no RNA accession: NM_032272.4
exon count: 8CDS single in 3' UTR: no RNA size: 1828
ORF size: 771CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 1487.00frame shift in genome: no % Coverage: 97.10
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.