UniProtKB - Q8NHW3 (MAFA_HUMAN)
Transcription factor MafA
MAFA
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 PublicationsGO - Molecular functioni
- DNA binding Source: UniProtKB
- DNA-binding transcription activator activity, RNA polymerase II-specific Source: Ensembl
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
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 by RNA polymerase II Source: GO_Central
- response to glucose Source: UniProtKB
Keywordsi
Molecular function | Activator, DNA-binding |
Biological process | Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q8NHW3 |
Reactomei | R-HSA-210745, Regulation of gene expression in beta cells |
SignaLinki | Q8NHW3 |
SIGNORi | Q8NHW3 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor MafAAlternative name(s): Pancreatic beta-cell-specific transcriptional activator RIPE3b1 factor1 Publication V-maf musculoaponeurotic fibrosarcoma oncogene homolog A |
Gene namesi | Name:MAFA |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:23145, MAFA |
MIMi | 610303, gene |
neXtProti | NX_Q8NHW3 |
VEuPathDBi | HostDB:ENSG00000182759 |
Subcellular locationi
Nucleus
- Nucleus PROSITE-ProRule annotation2 Publications
Keywords - Cellular componenti
NucleusPathology & Biotechi
Involvement in diseasei
Insulinomatosis and diabetes mellitus (INSDM)1 Publication
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080790 | 64 | S → F in INSDM; may prevent phosphorylation at S-65; may enhance protein stability. 1 PublicationCorresponds to variant dbSNP:rs1554635488EnsemblClinVar. | 1 |
Keywords - Diseasei
Diabetes mellitus, Disease variantOrganism-specific databases
DisGeNETi | 389692 |
MalaCardsi | MAFA |
MIMi | 147630, phenotype |
OpenTargetsi | ENSG00000182759 |
PharmGKBi | PA134963361 |
Miscellaneous databases
Pharosi | Q8NHW3, Tbio |
Genetic variation databases
BioMutai | MAFA |
DMDMi | 296435511 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000320274 | 1 – 353 | Transcription factor MafAAdd BLAST | 353 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 14 | PhosphoserineBy similarity | 1 | |
Cross-linki | 32 | Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)Combined sources | ||
Modified residuei | 49 | PhosphoserineBy similarity | 1 | |
Modified residuei | 53 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 57 | PhosphothreonineBy similarity | 1 | |
Modified residuei | 61 | PhosphoserineBy similarity | 1 | |
Modified residuei | 65 | PhosphoserineBy similarity | 1 |
Post-translational modificationi
Keywords - PTMi
Isopeptide bond, Phosphoprotein, Ubl conjugationProteomic databases
MassIVEi | Q8NHW3 |
PaxDbi | Q8NHW3 |
PeptideAtlasi | Q8NHW3 |
PRIDEi | Q8NHW3 |
TopDownProteomicsi | Q8NHW3 |
PTM databases
iPTMneti | Q8NHW3 |
PhosphoSitePlusi | Q8NHW3 |
Expressioni
Tissue specificityi
Gene expression databases
Bgeei | ENSG00000182759, Expressed in skeletal muscle tissue and 72 other tissues |
Organism-specific databases
HPAi | ENSG00000182759, Tissue enriched (skeletal) |
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 PublicationsProtein-protein interaction databases
BioGRIDi | 133233, 13 interactors |
IntActi | Q8NHW3, 2 interactors |
STRINGi | 9606.ENSP00000328364 |
Miscellaneous databases
RNActi | Q8NHW3, protein |
Structurei
Secondary structure
3D structure databases
SMRi | Q8NHW3 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 254 – 317 | bZIPPROSITE-ProRule annotationAdd BLAST | 64 |
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 40 – 108 | DisorderedSequence analysisAdd BLAST | 69 | |
Regioni | 177 – 219 | DisorderedSequence analysisAdd BLAST | 43 | |
Regioni | 254 – 279 | Basic motifAdd BLAST | 26 | |
Regioni | 282 – 303 | Leucine-zipperAdd BLAST | 22 | |
Regioni | 315 – 353 | DisorderedSequence analysisAdd BLAST | 39 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 49 – 71 | Polar residuesSequence analysisAdd BLAST | 23 | |
Compositional biasi | 187 – 213 | Basic residuesSequence analysisAdd BLAST | 27 |
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG4196, Eukaryota |
GeneTreei | ENSGT00940000162747 |
HOGENOMi | CLU_063062_0_0_1 |
InParanoidi | Q8NHW3 |
OMAi | GAHHTAH |
OrthoDBi | 1395389at2759 |
PhylomeDBi | Q8NHW3 |
TreeFami | TF325689 |
Family and domain databases
InterProi | View protein in InterPro IPR004827, bZIP IPR004826, bZIP_Maf IPR013592, Maf_TF_N IPR028562, MafA IPR008917, TF_DNA-bd_sf IPR024874, Transcription_factor_Maf_fam |
PANTHERi | PTHR10129, PTHR10129, 1 hit PTHR10129:SF30, PTHR10129:SF30, 1 hit |
Pfami | View protein in Pfam PF03131, bZIP_Maf, 1 hit PF08383, Maf_N, 1 hit |
SMARTi | View protein in SMART SM00338, BRLZ, 1 hit |
SUPFAMi | SSF47454, SSF47454, 1 hit |
PROSITEi | View protein in PROSITE PS50217, BZIP, 1 hit |
i Sequence
Sequence statusi: Complete.
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
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 199 | Missing in BAC20389 (PubMed:12368292).Curated | 1 | |
Sequence conflicti | 199 | Missing in AAL89527 (PubMed:12011435).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_080790 | 64 | S → F in INSDM; may prevent phosphorylation at S-65; may enhance protein stability. 1 PublicationCorresponds to variant dbSNP:rs1554635488EnsemblClinVar. | 1 |
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. |
CCDSi | CCDS34955.1 |
RefSeqi | NP_963883.2, NM_201589.3 |
Genome annotation databases
Ensembli | ENST00000333480; ENSP00000328364; ENSG00000182759 |
GeneIDi | 389692 |
KEGGi | hsa:389692 |
MANE-Selecti | ENST00000333480.3; ENSP00000328364.2; NM_201589.4; NP_963883.2 |
UCSCi | uc003yyc.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. |
CCDSi | CCDS34955.1 |
RefSeqi | NP_963883.2, NM_201589.3 |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
4EOT | X-ray | 2.86 | A/B | 226-318 | [»] | |
SMRi | Q8NHW3 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 133233, 13 interactors |
IntActi | Q8NHW3, 2 interactors |
STRINGi | 9606.ENSP00000328364 |
PTM databases
iPTMneti | Q8NHW3 |
PhosphoSitePlusi | Q8NHW3 |
Genetic variation databases
BioMutai | MAFA |
DMDMi | 296435511 |
Proteomic databases
MassIVEi | Q8NHW3 |
PaxDbi | Q8NHW3 |
PeptideAtlasi | Q8NHW3 |
PRIDEi | Q8NHW3 |
TopDownProteomicsi | Q8NHW3 |
Protocols and materials databases
Antibodypediai | 14595, 257 antibodies from 26 providers |
DNASUi | 389692 |
Genome annotation databases
Ensembli | ENST00000333480; ENSP00000328364; ENSG00000182759 |
GeneIDi | 389692 |
KEGGi | hsa:389692 |
MANE-Selecti | ENST00000333480.3; ENSP00000328364.2; NM_201589.4; NP_963883.2 |
UCSCi | uc003yyc.3, human |
Organism-specific databases
CTDi | 389692 |
DisGeNETi | 389692 |
GeneCardsi | MAFA |
HGNCi | HGNC:23145, MAFA |
HPAi | ENSG00000182759, Tissue enriched (skeletal) |
MalaCardsi | MAFA |
MIMi | 147630, phenotype 610303, gene |
neXtProti | NX_Q8NHW3 |
OpenTargetsi | ENSG00000182759 |
PharmGKBi | PA134963361 |
VEuPathDBi | HostDB:ENSG00000182759 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG4196, Eukaryota |
GeneTreei | ENSGT00940000162747 |
HOGENOMi | CLU_063062_0_0_1 |
InParanoidi | Q8NHW3 |
OMAi | GAHHTAH |
OrthoDBi | 1395389at2759 |
PhylomeDBi | Q8NHW3 |
TreeFami | TF325689 |
Enzyme and pathway databases
PathwayCommonsi | Q8NHW3 |
Reactomei | R-HSA-210745, Regulation of gene expression in beta cells |
SignaLinki | Q8NHW3 |
SIGNORi | Q8NHW3 |
Miscellaneous databases
BioGRID-ORCSi | 389692, 13 hits in 1056 CRISPR screens |
GeneWikii | MAFA_(gene) |
GenomeRNAii | 389692 |
Pharosi | Q8NHW3, Tbio |
PROi | PR:Q8NHW3 |
RNActi | Q8NHW3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000182759, Expressed in skeletal muscle tissue and 72 other tissues |
Family and domain databases
InterProi | View protein in InterPro IPR004827, bZIP IPR004826, bZIP_Maf IPR013592, Maf_TF_N IPR028562, MafA IPR008917, TF_DNA-bd_sf IPR024874, Transcription_factor_Maf_fam |
PANTHERi | PTHR10129, PTHR10129, 1 hit PTHR10129:SF30, PTHR10129:SF30, 1 hit |
Pfami | View protein in Pfam PF03131, bZIP_Maf, 1 hit PF08383, Maf_N, 1 hit |
SMARTi | View protein in SMART SM00338, BRLZ, 1 hit |
SUPFAMi | SSF47454, SSF47454, 1 hit |
PROSITEi | View protein in PROSITE PS50217, BZIP, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | MAFA_HUMAN | |
Accessioni | Q8NHW3Primary (citable) accession number: Q8NHW3 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | February 26, 2008 |
Last sequence update: | May 18, 2010 | |
Last modified: | February 23, 2022 | |
This is version 145 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Reference proteomeDocuments
- Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families