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Protein

Transcription factor MafA

Gene

MAFA

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

Functioni

Transcription factor that activates insulin gene expression (PubMed:15993959, PubMed:12011435). Acts synergistically with NEUROD1/BETA2 and PDX1 (PubMed:15993959). Binds the insulin enhancer C1/RIPE3b element (PubMed:12011435). Binds to consensus TRE-type MARE 5'-TGCTGACTCAGCA-3' DNA sequence (PubMed:23148532, PubMed:29339498).4 Publications

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

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
RIPE3b1 factor1 Publication
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

EuPathDBiHostDB:ENSG00000182759.3
HGNCiHGNC:23145 MAFA
MIMi610303 gene
neXtProtiNX_Q8NHW3

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

Nucleus

Pathology & Biotechi

Involvement in diseasei

Insulinomatosis and diabetes mellitus (INSDM)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant disorder characterized by the occurrence of multicentric insulinomas, hyperinsulinemic hypoglycemia, non insulin-dependent diabetes mellitus, and impaired glucose tolerance. Some patients also exhibit congenital cataract and/or congenital glaucoma.
See also OMIM:147630
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08079064S → F in INSDM; may prevent phosphorylation at S-65; may enhance protein stability. 1 Publication1

Keywords - Diseasei

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNETi389692
MalaCardsiMAFA
MIMi147630 phenotype
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 residuei14PhosphoserineBy similarity1
Cross-linki32Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources
Modified residuei49PhosphoserineBy similarity1
Modified residuei53PhosphothreonineBy similarity1
Modified residuei57PhosphothreonineBy similarity1
Modified residuei61PhosphoserineBy similarity1
Modified residuei65PhosphoserineBy similarity1

Post-translational modificationi

Ubiquitinated, leading to its degradation by the proteasome.By similarity
Phosphorylated at tyrosines.By similarity

Keywords - PTMi

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbiQ8NHW3
PeptideAtlasiQ8NHW3
PRIDEiQ8NHW3
ProteomicsDBi73768
TopDownProteomicsiQ8NHW3

PTM databases

iPTMnetiQ8NHW3
PhosphoSitePlusiQ8NHW3

Expressioni

Tissue specificityi

Expressed in the islets of Langerhans (at protein level).1 Publication

Gene expression databases

BgeeiENSG00000182759 Expressed in 58 organ(s), highest expression level in skeletal muscle tissue
CleanExiHS_MAFA

Interactioni

Subunit structurei

Forms homodimers or heterodimers (PubMed:12011435, PubMed:23148532). Monomers and dimers are able to bind DNA, but the off-rate is faster for monomers (PubMed:23148532). Interacts with NEUROD1 and PDX1 (By similarity). May interact with MAFB, FOS, JUN and PCAF (By similarity).By similarity2 Publications

GO - Molecular functioni

Protein-protein interaction databases

BioGridi133233, 9 interactors
STRINGi9606.ENSP00000328364

Structurei

Secondary structure

1353
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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
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

Phylogenomic databases

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

Family and domain databases

InterProiView protein in InterPro
IPR004827 bZIP
IPR004826 bZIP_Maf
IPR013592 Maf_TF_N
IPR028562 MafA
IPR008917 TF_DNA-bd_sf
IPR024874 Transciption_factor_Maf_fam
PANTHERiPTHR10129 PTHR10129, 1 hit
PTHR10129:SF30 PTHR10129:SF30, 1 hit
PfamiView protein in Pfam
PF03131 bZIP_Maf, 1 hit
PF08383 Maf_N, 1 hit
SMARTiView protein in SMART
SM00338 BRLZ, 1 hit
SUPFAMiSSF47454 SSF47454, 1 hit
PROSITEiView protein in PROSITE
PS50217 BZIP, 1 hit

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_08079064S → F in INSDM; may prevent phosphorylation at S-65; may enhance protein stability. 1 Publication1

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

Similar proteinsi

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
PeptideAtlasiQ8NHW3
PRIDEiQ8NHW3
ProteomicsDBi73768
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
EuPathDBiHostDB:ENSG00000182759.3
GeneCardsiMAFA
HGNCiHGNC:23145 MAFA
MalaCardsiMAFA
MIMi147630 phenotype
610303 gene
neXtProtiNX_Q8NHW3
OpenTargetsiENSG00000182759
PharmGKBiPA134963361
GenAtlasiSearch...

Phylogenomic databases

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

Enzyme and pathway databases

ReactomeiR-HSA-210745 Regulation of gene expression in beta cells
SIGNORiQ8NHW3

Miscellaneous databases

GeneWikiiMAFA_(gene)
GenomeRNAii389692
PROiPR:Q8NHW3
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000182759 Expressed in 58 organ(s), highest expression level in skeletal muscle tissue
CleanExiHS_MAFA

Family and domain databases

InterProiView protein in InterPro
IPR004827 bZIP
IPR004826 bZIP_Maf
IPR013592 Maf_TF_N
IPR028562 MafA
IPR008917 TF_DNA-bd_sf
IPR024874 Transciption_factor_Maf_fam
PANTHERiPTHR10129 PTHR10129, 1 hit
PTHR10129:SF30 PTHR10129:SF30, 1 hit
PfamiView protein in Pfam
PF03131 bZIP_Maf, 1 hit
PF08383 Maf_N, 1 hit
SMARTiView protein in SMART
SM00338 BRLZ, 1 hit
SUPFAMiSSF47454 SSF47454, 1 hit
PROSITEiView protein in PROSITE
PS50217 BZIP, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiMAFA_HUMAN
AccessioniPrimary (citable) accession number: Q8NHW3
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: May 18, 2010
Last modified: November 7, 2018
This is version 126 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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