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Protein

Repressor of RNA polymerase III transcription MAF1 homolog

Gene

MAF1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.3 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionRepressor
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-8943724 Regulation of PTEN gene transcription
SIGNORiQ9H063

Names & Taxonomyi

Protein namesi
Recommended name:
Repressor of RNA polymerase III transcription MAF1 homolog
Gene namesi
Name:MAF1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000179632.9
HGNCiHGNC:24966 MAF1
MIMi610210 gene
neXtProtiNX_Q9H063

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi35K → R: No interaction with RNA pol III and impaired recruitment to tRNA gene promoters. 1 Publication1
Mutagenesisi60S → A: Stronger repressive effect on RNA polymerase III transcription; when associated with A-68 and A-75. Much stronger repressive effect on RNA polymerase III transcription and loss of phosphorylation; when associated with A-64, A-68 and A-75. 2 Publications1
Mutagenesisi60S → D: No change. Weaker repressive effect on RNA polymerase III transcription; when associated with D-68 and D-75. 2 Publications1
Mutagenesisi64T → A: Much stronger repressive effect on RNA polymerase III transcription and loss of phosphorylation; when associated with A-60, A-68 and A-75. 1 Publication1
Mutagenesisi68S → A: Stronger repressive effect on RNA polymerase III transcription; when associated with A-60 and A-75. Much stronger repressive effect on RNA polymerase III transcription and loss of phosphorylation; when associated with A-60, A-64 and A-75. 2 Publications1
Mutagenesisi68S → D: No change. Weaker repressive effect on RNA polymerase III transcription; when associated with D-60 and D-75. 2 Publications1
Mutagenesisi75S → A: Stronger repressive effect on RNA polymerase III transcription. Stronger repressive effect on RNA polymerase III transcription; when associated with A-60 and A-68. Much stronger repressive effect on RNA polymerase III transcription and loss of phosphorylation; when associated with A-60, A-64 and A-68. 3 Publications1
Mutagenesisi75S → D: No change. Weaker repressive effect on RNA polymerase III transcription; when associated with D-60 and D-68. 3 Publications1

Organism-specific databases

DisGeNETi84232
OpenTargetsiENSG00000179632
PharmGKBiPA142671489

Polymorphism and mutation databases

BioMutaiMAF1
DMDMi296434582

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002139731 – 256Repressor of RNA polymerase III transcription MAF1 homologAdd BLAST256

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Cross-linki35Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1 and SUMO2)
Modified residuei60Phosphoserine; by MTORCombined sources2 Publications1
Modified residuei64Phosphothreonine2 Publications1
Modified residuei65Phosphoserine1 Publication1
Modified residuei68Phosphoserine; by MTOR2 Publications1
Modified residuei70Phosphoserine1 Publication1
Modified residuei75Phosphoserine; by MTORCombined sources4 Publications1
Modified residuei212Phosphothreonine1 Publication1
Modified residuei214PhosphoserineCombined sources1 Publication1

Post-translational modificationi

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.4 Publications
Sumoylated with SUMO1 and SUMO2, mainly on Lys-35. Desumoylated by SENP1. SUMOylation promotes the ability of MAF1 to repress transcription and suppress colony formation.1 Publication

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

EPDiQ9H063
MaxQBiQ9H063
PaxDbiQ9H063
PeptideAtlasiQ9H063
PRIDEiQ9H063
ProteomicsDBi80206

PTM databases

iPTMnetiQ9H063
PhosphoSitePlusiQ9H063

Expressioni

Gene expression databases

BgeeiENSG00000179632 Expressed in 201 organ(s), highest expression level in muscle of leg
CleanExiHS_MAF1
ExpressionAtlasiQ9H063 baseline and differential
GenevisibleiQ9H063 HS

Organism-specific databases

HPAiHPA024821
HPA058548

Interactioni

Subunit structurei

Interacts with BRF2.1 Publication

GO - Molecular functioni

Protein-protein interaction databases

BioGridi123965, 19 interactors
DIPiDIP-53028N
IntActiQ9H063, 7 interactors
MINTiQ9H063
STRINGi9606.ENSP00000318604

Structurei

Secondary structure

1256
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ9H063
SMRiQ9H063
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ9H063

Family & Domainsi

Sequence similaritiesi

Belongs to the MAF1 family.Curated

Phylogenomic databases

eggNOGiKOG3104 Eukaryota
COG5046 LUCA
GeneTreeiENSGT00390000006896
HOGENOMiHOG000185242
HOVERGENiHBG052395
InParanoidiQ9H063
PhylomeDBiQ9H063
TreeFamiTF315149

Family and domain databases

Gene3Di3.40.1000.50, 2 hits
InterProiView protein in InterPro
IPR015257 Maf1
IPR038564 Maf1_sf
PANTHERiPTHR22504 PTHR22504, 1 hit
PfamiView protein in Pfam
PF09174 Maf1, 1 hit
PIRSFiPIRSF037240 RNA_polIII_Trep_MAF1, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 4 potential isoforms that are computationally mapped.Show allAlign All

Q9H063-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MKLLENSSFE AINSQLTVET GDAHIIGRIE SYSCKMAGDD KHMFKQFCQE
60 70 80 90 100
GQPHVLEALS PPQTSGLSPS RLSKSQGGEE EGPLSDKCSR KTLFYLIATL
110 120 130 140 150
NESFRPDYDF STARSHEFSR EPSLSWVVNA VNCSLFSAVR EDFKDLKPQL
160 170 180 190 200
WNAVDEEICL AECDIYSYNP DLDSDPFGED GSLWSFNYFF YNKRLKRIVF
210 220 230 240 250
FSCRSISGST YTPSEAGNEL DMELGEEEVE EESRSGGSGA EETSTMEEDR

VPVICI
Length:256
Mass (Da):28,771
Last modified:May 18, 2010 - v2
Checksum:iD6C06D2E476753AA
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PSH4E9PSH4_HUMAN
Repressor of RNA polymerase III tra...
MAF1
286Annotation score:
E9PR76E9PR76_HUMAN
Repressor of RNA polymerase III tra...
MAF1
252Annotation score:
E9PJ05E9PJ05_HUMAN
Repressor of RNA polymerase III tra...
MAF1
70Annotation score:
H0YEV4H0YEV4_HUMAN
Repressor of RNA polymerase III tra...
MAF1
164Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_060408236G → R4 PublicationsCorresponds to variant dbSNP:rs11546144Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136937 mRNA Translation: CAB66871.1
CR533463 mRNA Translation: CAG38494.1
AC104592 Genomic DNA No translation available.
CH471162 Genomic DNA Translation: EAW82158.1
CH471162 Genomic DNA Translation: EAW82159.1
BC014082 mRNA Translation: AAH14082.1
BC018714 mRNA Translation: AAH18714.1
BC031273 mRNA Translation: AAH31273.1
CCDSiCCDS6416.1
RefSeqiNP_115648.2, NM_032272.4
XP_016869393.1, XM_017013904.1
UniGeneiHs.19673

Genome annotation databases

EnsembliENST00000322428; ENSP00000318604; ENSG00000179632
ENST00000532522; ENSP00000436720; ENSG00000179632
GeneIDi84232
KEGGihsa:84232
UCSCiuc003zbc.2 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AL136937 mRNA Translation: CAB66871.1
CR533463 mRNA Translation: CAG38494.1
AC104592 Genomic DNA No translation available.
CH471162 Genomic DNA Translation: EAW82158.1
CH471162 Genomic DNA Translation: EAW82159.1
BC014082 mRNA Translation: AAH14082.1
BC018714 mRNA Translation: AAH18714.1
BC031273 mRNA Translation: AAH31273.1
CCDSiCCDS6416.1
RefSeqiNP_115648.2, NM_032272.4
XP_016869393.1, XM_017013904.1
UniGeneiHs.19673

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3NR5X-ray1.55A1-205[»]
ProteinModelPortaliQ9H063
SMRiQ9H063
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123965, 19 interactors
DIPiDIP-53028N
IntActiQ9H063, 7 interactors
MINTiQ9H063
STRINGi9606.ENSP00000318604

PTM databases

iPTMnetiQ9H063
PhosphoSitePlusiQ9H063

Polymorphism and mutation databases

BioMutaiMAF1
DMDMi296434582

Proteomic databases

EPDiQ9H063
MaxQBiQ9H063
PaxDbiQ9H063
PeptideAtlasiQ9H063
PRIDEiQ9H063
ProteomicsDBi80206

Protocols and materials databases

DNASUi84232
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000322428; ENSP00000318604; ENSG00000179632
ENST00000532522; ENSP00000436720; ENSG00000179632
GeneIDi84232
KEGGihsa:84232
UCSCiuc003zbc.2 human

Organism-specific databases

CTDi84232
DisGeNETi84232
EuPathDBiHostDB:ENSG00000179632.9
GeneCardsiMAF1
H-InvDBiHIX0022762
HGNCiHGNC:24966 MAF1
HPAiHPA024821
HPA058548
MIMi610210 gene
neXtProtiNX_Q9H063
OpenTargetsiENSG00000179632
PharmGKBiPA142671489
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3104 Eukaryota
COG5046 LUCA
GeneTreeiENSGT00390000006896
HOGENOMiHOG000185242
HOVERGENiHBG052395
InParanoidiQ9H063
PhylomeDBiQ9H063
TreeFamiTF315149

Enzyme and pathway databases

ReactomeiR-HSA-8943724 Regulation of PTEN gene transcription
SIGNORiQ9H063

Miscellaneous databases

ChiTaRSiMAF1 human
EvolutionaryTraceiQ9H063
GeneWikiiMAF1
GenomeRNAii84232
PROiPR:Q9H063
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000179632 Expressed in 201 organ(s), highest expression level in muscle of leg
CleanExiHS_MAF1
ExpressionAtlasiQ9H063 baseline and differential
GenevisibleiQ9H063 HS

Family and domain databases

Gene3Di3.40.1000.50, 2 hits
InterProiView protein in InterPro
IPR015257 Maf1
IPR038564 Maf1_sf
PANTHERiPTHR22504 PTHR22504, 1 hit
PfamiView protein in Pfam
PF09174 Maf1, 1 hit
PIRSFiPIRSF037240 RNA_polIII_Trep_MAF1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMAF1_HUMAN
AccessioniPrimary (citable) accession number: Q9H063
Secondary accession number(s): D3DWL4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 31, 2004
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 136 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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