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Protein

Transcription factor MafA

Gene

MAFA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Acts as a transcriptional factor. Specifically binds the insulin enhancer element RIPE3b and activates insulin gene expression. Cooperates synergistically with NEUROD1 and PDX1. Phosphorylation by GSK3 increases its transcriptional activity and is required for its oncogenic activity. Involved either as an oncogene or as a tumor suppressor, depending on the cell context.6 Publications

GO - Molecular functioni

GO - Biological processi

  • insulin secretion Source: BHF-UCL
  • nitric oxide mediated signal transduction Source: BHF-UCL
  • regulation of transcription, DNA-templated Source: UniProtKB
  • regulation of transcription from RNA polymerase II promoter Source: GO_Central
  • response to glucose Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

BioCyciZFISH:G66-33792-MONOMER.
ReactomeiR-HSA-210745. Regulation of gene expression in beta cells.
SIGNORiQ8NHW3.

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor MafA
Alternative name(s):
Pancreatic beta-cell-specific transcriptional activator
Transcription factor RIPE3b1
V-maf musculoaponeurotic fibrosarcoma oncogene homolog A
Gene namesi
Name:MAFA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:23145. MAFA.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi14S → A: Abolishes transactivation activity; when associated with A-65. 1 Publication1
Mutagenesisi49S → A: Diminishes transcriptional activity and transforming activity and abolishes ubiquitination; when associated with A-53; A-57 and A-61. 1 Publication1
Mutagenesisi53T → A: Diminishes transcriptional activity and transforming activity and abolishes ubiquitination; when associated with A-49; A-57 and A-61. 1 Publication1
Mutagenesisi57T → A: Diminishes transcriptional activity and transforming activity and abolishes ubiquitination; when associated with A-49; A-53 and A-61. 1 Publication1
Mutagenesisi61S → A: Diminishes transcriptional activity and transforming activity and abolishes ubiquitination; when associated with A-49; A-53 and A-57. 1 Publication1
Mutagenesisi65S → A: Greatly reduces phosphorylation and reduces transcriptional activity; when associated with A-14. 1 Publication1

Keywords - Diseasei

Proto-oncogene, Tumor suppressor

Organism-specific databases

DisGeNETi389692.
OpenTargetsiENSG00000182759.
PharmGKBiPA134963361.

Polymorphism and mutation databases

BioMutaiMAFA.
DMDMi296435511.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003202741 – 353Transcription factor MafAAdd BLAST353

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei14Phosphoserine; by MAPK11 Publication1
Modified residuei49Phosphoserine; by GSK31 Publication1
Modified residuei53Phosphothreonine; by GSK31 Publication1
Modified residuei57Phosphothreonine; by GSK31 Publication1
Modified residuei61Phosphoserine; by GSK31 Publication1
Modified residuei65Phosphoserine; by MAPK11 Publication1

Post-translational modificationi

Ubiquitinated, leading to its degradation by the proteasome.1 Publication
Ser-14 and Ser-65 appear to be the major phosphorylation sites. Phosphorylated by MAPK13 on serine and threonine residues (Probable). Phosphorylation by GSK3 requires prior phosphorylation of Ser-65 by another kinase. Phosphorylation proceeds then from Ser-61 to Thr-57, Thr-53 and Ser-49. GSK3-mediated phosphorylation increases its transcriptional activity through the recruitment of the coactivator PCAF, is required for its transforming activity and leads to its degradation through a ubiquitin/proteasome-dependent pathway.Curated3 Publications

Keywords - PTMi

Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiQ8NHW3.
PRIDEiQ8NHW3.
TopDownProteomicsiQ8NHW3.

PTM databases

iPTMnetiQ8NHW3.
PhosphoSitePlusiQ8NHW3.

Expressioni

Inductioni

Up-regulated by glucose.1 Publication

Gene expression databases

BgeeiENSG00000182759.
CleanExiHS_MAFA.

Organism-specific databases

HPAiCAB004311.

Interactioni

Subunit structurei

Binds DNA as a homodimer. Interacts with NEUROD1, PCAF and PDX1.3 Publications

GO - Molecular functioni

  • protein heterodimerization activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

Protein-protein interaction databases

BioGridi133233. 9 interactors.
STRINGi9606.ENSP00000328364.

Structurei

Secondary structure

1353
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi229 – 234Combined sources6
Helixi237 – 243Combined sources7
Turni244 – 246Combined sources3
Helixi249 – 316Combined sources68

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4EOTX-ray2.86A/B226-318[»]
ProteinModelPortaliQ8NHW3.
SMRiQ8NHW3.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini254 – 317bZIPPROSITE-ProRule annotationAdd BLAST64

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni254 – 279Basic motifAdd BLAST26
Regioni260 – 274Interaction with DNAAdd BLAST15
Regioni282 – 303Leucine-zipperAdd BLAST22

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi74 – 86Poly-GlyAdd BLAST13
Compositional biasi147 – 220His-richAdd BLAST74

Sequence similaritiesi

Belongs to the bZIP family. Maf subfamily.Curated
Contains 1 bZIP (basic-leucine zipper) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410ISHR. Eukaryota.
ENOG4112BJ1. LUCA.
GeneTreeiENSGT00550000074549.
HOGENOMiHOG000261683.
HOVERGENiHBG000313.
InParanoidiQ8NHW3.
KOiK07595.
OMAiEKCQLQS.
OrthoDBiEOG091G0H46.
PhylomeDBiQ8NHW3.
TreeFamiTF325689.

Family and domain databases

Gene3Di1.10.880.10. 1 hit.
InterProiIPR004827. bZIP.
IPR004826. bZIP_Maf.
IPR013592. Maf_TF_N.
IPR028562. MafA.
IPR008917. TF_DNA-bd.
IPR024874. Transciption_factor_Maf_fam.
[Graphical view]
PANTHERiPTHR10129. PTHR10129. 2 hits.
PTHR10129:SF30. PTHR10129:SF30. 2 hits.
PfamiPF03131. bZIP_Maf. 1 hit.
PF08383. Maf_N. 1 hit.
[Graphical view]
SMARTiSM00338. BRLZ. 1 hit.
[Graphical view]
SUPFAMiSSF47454. SSF47454. 1 hit.
PROSITEiPS50217. BZIP. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8NHW3-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAELAMGAE LPSSPLAIEY VNDFDLMKFE VKKEPPEAER FCHRLPPGSL
60 70 80 90 100
SSTPLSTPCS SVPSSPSFCA PSPGTGGGGG AGGGGGSSQA GGAPGPPSGG
110 120 130 140 150
PGAVGGTSGK PALEDLYWMS GYQHHLNPEA LNLTPEDAVE ALIGSGHHGA
160 170 180 190 200
HHGAHHPAAA AAYEAFRGPG FAGGGGADDM GAGHHHGAHH AAHHHHAAHH
210 220 230 240 250
HHHHHHHHGG AGHGGGAGHH VRLEERFSDD QLVSMSVREL NRQLRGFSKE
260 270 280 290 300
EVIRLKQKRR TLKNRGYAQS CRFKRVQQRH ILESEKCQLQ SQVEQLKLEV
310 320 330 340 350
GRLAKERDLY KEKYEKLAGR GGPGSAGGAG FPREPSPPQA GPGGAKGTAD

FFL
Length:353
Mass (Da):36,982
Last modified:May 18, 2010 - v2
Checksum:i38F732D4C959AD62
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti199Missing in BAC20389 (PubMed:12368292).Curated1
Sequence conflicti199Missing in AAL89527 (PubMed:12011435).Curated1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB086960 Genomic DNA. Translation: BAC20389.1.
AY083269 Genomic DNA. Translation: AAL89527.1.
AC105118 Genomic DNA. No translation available.
CCDSiCCDS34955.1.
RefSeqiNP_963883.2. NM_201589.3.
UniGeneiHs.521914.

Genome annotation databases

EnsembliENST00000333480; ENSP00000328364; ENSG00000182759.
GeneIDi389692.
KEGGihsa:389692.
UCSCiuc003yyc.3. human.

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB086960 Genomic DNA. Translation: BAC20389.1.
AY083269 Genomic DNA. Translation: AAL89527.1.
AC105118 Genomic DNA. No translation available.
CCDSiCCDS34955.1.
RefSeqiNP_963883.2. NM_201589.3.
UniGeneiHs.521914.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4EOTX-ray2.86A/B226-318[»]
ProteinModelPortaliQ8NHW3.
SMRiQ8NHW3.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi133233. 9 interactors.
STRINGi9606.ENSP00000328364.

PTM databases

iPTMnetiQ8NHW3.
PhosphoSitePlusiQ8NHW3.

Polymorphism and mutation databases

BioMutaiMAFA.
DMDMi296435511.

Proteomic databases

PaxDbiQ8NHW3.
PRIDEiQ8NHW3.
TopDownProteomicsiQ8NHW3.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000333480; ENSP00000328364; ENSG00000182759.
GeneIDi389692.
KEGGihsa:389692.
UCSCiuc003yyc.3. human.

Organism-specific databases

CTDi389692.
DisGeNETi389692.
GeneCardsiMAFA.
HGNCiHGNC:23145. MAFA.
HPAiCAB004311.
MIMi610303. gene.
neXtProtiNX_Q8NHW3.
OpenTargetsiENSG00000182759.
PharmGKBiPA134963361.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ISHR. Eukaryota.
ENOG4112BJ1. LUCA.
GeneTreeiENSGT00550000074549.
HOGENOMiHOG000261683.
HOVERGENiHBG000313.
InParanoidiQ8NHW3.
KOiK07595.
OMAiEKCQLQS.
OrthoDBiEOG091G0H46.
PhylomeDBiQ8NHW3.
TreeFamiTF325689.

Enzyme and pathway databases

BioCyciZFISH:G66-33792-MONOMER.
ReactomeiR-HSA-210745. Regulation of gene expression in beta cells.
SIGNORiQ8NHW3.

Miscellaneous databases

GeneWikiiMAFA_(gene).
GenomeRNAii389692.
PROiQ8NHW3.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182759.
CleanExiHS_MAFA.

Family and domain databases

Gene3Di1.10.880.10. 1 hit.
InterProiIPR004827. bZIP.
IPR004826. bZIP_Maf.
IPR013592. Maf_TF_N.
IPR028562. MafA.
IPR008917. TF_DNA-bd.
IPR024874. Transciption_factor_Maf_fam.
[Graphical view]
PANTHERiPTHR10129. PTHR10129. 2 hits.
PTHR10129:SF30. PTHR10129:SF30. 2 hits.
PfamiPF03131. bZIP_Maf. 1 hit.
PF08383. Maf_N. 1 hit.
[Graphical view]
SMARTiSM00338. BRLZ. 1 hit.
[Graphical view]
SUPFAMiSSF47454. SSF47454. 1 hit.
PROSITEiPS50217. BZIP. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiMAFA_HUMAN
AccessioniPrimary (citable) accession number: Q8NHW3
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: May 18, 2010
Last modified: November 2, 2016
This is version 110 of the entry and version 2 of the sequence. [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. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  4. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.