UniProtKB - Q8NHW3 (MAFA_HUMAN)

BLAST

>sp|Q8NHW3|MAFA_HUMAN Transcription factor MafA OS=Homo sapiens OX=9606 GN=MAFA PE=1 SV=2
MAAELAMGAELPSSPLAIEYVNDFDLMKFEVKKEPPEAERFCHRLPPGSLSSTPLSTPCS
SVPSSPSFCAPSPGTGGGGGAGGGGGSSQAGGAPGPPSGGPGAVGGTSGKPALEDLYWMS
GYQHHLNPEALNLTPEDAVEALIGSGHHGAHHGAHHPAAAAAYEAFRGPGFAGGGGADDM
GAGHHHGAHHAAHHHHAAHHHHHHHHHHGGAGHGGGAGHHVRLEERFSDDQLVSMSVREL
NRQLRGFSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHILESEKCQLQSQVEQLKLEV
GRLAKERDLYKEKYEKLAGRGGPGSAGGAGFPREPSPPQAGPGGAKGTADFFL

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History
Entry version 126 (07 Nov 2018)
Sequence version 2 (18 May 2010)
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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

DNA binding
Source: UniProtKB
Inferred from direct assayⁱ
- 12368292
DNA-binding transcription factor activity
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
protein heterodimerization activity
Source: UniProtKB
Non-traceable author statementⁱ
- 12368292
protein homodimerization activity
Source: UniProtKB
Traceable author statementⁱ
- 12368292
proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
RNA polymerase II proximal promoter sequence-specific DNA binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635
sequence-specific DNA binding
Source: GO_Central
Inferred from biological aspect of ancestorⁱ
- 21873635

View the complete GO annotation on QuickGO ...

GO - Biological processⁱ

insulin secretion
Source: BHF-UCL
Inferred from direct assayⁱ
- 17941991
nitric oxide mediated signal transduction
Source: BHF-UCL
Inferred from direct assayⁱ
- 17941991
regulation of transcription, DNA-templated
Source: UniProtKB
Traceable author statementⁱ
- 12368292
response to glucose
Source: UniProtKB
Inferred from direct assayⁱ
- 12368292

View the complete GO annotation on QuickGO ...

Keywordsⁱ

Molecular function	Activator, DNA-binding
Biological process	Transcription, Transcription regulation

Enzyme and pathway databases

Reactomeⁱ	R-HSA-210745 Regulation of gene expression in beta cells
SIGNORⁱ	Q8NHW3

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
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 8

Organism-specific databases

EuPathDBⁱ	HostDB:ENSG00000182759.3
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:23145 MAFA
MIMⁱ	610303 gene
neXtProtⁱ	NX_Q8NHW3

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.

Keywords - Diseaseⁱ

Diabetes mellitus, Disease mutation

Organism-specific databases

DisGeNET More...DisGeNETⁱ	389692
MalaCards human disease database More...MalaCardsⁱ	MAFA
MIMⁱ	147630 phenotype
Open Targets More...OpenTargetsⁱ	ENSG00000182759
PharmGKBⁱ	PA134963361

Polymorphism and mutation 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	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

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

Phosphorylated at tyrosines.By similarity

Keywords - PTMⁱ

Isopeptide bond, Phosphoprotein, Ubl conjugation

Proteomic databases

PaxDbⁱ	Q8NHW3
PeptideAtlas More...PeptideAtlasⁱ	Q8NHW3
PRIDEⁱ	Q8NHW3
ProteomicsDBⁱ	73768
TopDownProteomicsⁱ	Q8NHW3

PTM databases

iPTMnetⁱ	Q8NHW3
PhosphoSitePlusⁱ	Q8NHW3

Expressionⁱ

Tissue specificityⁱ

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

Gene expression databases

Bgeeⁱ	ENSG00000182759 Expressed in 58 organ(s), highest expression level in skeletal muscle tissue
CleanExⁱ	HS_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 heterodimerization activity
Source: UniProtKB
Non-traceable author statementⁱ
- 12368292
protein homodimerization activity
Source: UniProtKB
Traceable author statementⁱ
- 12368292

View the complete GO annotation on QuickGO ...

Protein-protein interaction databases

BioGridⁱ	133233, 9 interactors
STRINGⁱ	9606.ENSP00000328364

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Feature key	Position(s)	DescriptionActions	Length
Helixⁱ	229 – 234	Combined sources	6
Helixⁱ	237 – 243	Combined sources	7
Turnⁱ	244 – 246	Combined sources	3
Helixⁱ	249 – 316	Combined sources	68

Show more details

3D structure databases

ProteinModelPortalⁱ	Q8NHW3
SMRⁱ	Q8NHW3
ModBaseⁱ	Search...
MobiDBⁱ	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	254 – 279	Basic motifAdd BLAST		26
Regionⁱ	282 – 303	Leucine-zipperAdd BLAST		22

Compositional bias

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Compositional biasⁱ	74 – 86	Poly-GlyAdd BLAST		13
Compositional biasⁱ	147 – 220	His-richAdd BLAST		74

Sequence similaritiesⁱ

Belongs to the bZIP family. Maf subfamily.Curated

Phylogenomic databases

eggNOGⁱ	ENOG410ISHR Eukaryota ENOG4112BJ1 LUCA
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00550000074549
HOGENOMⁱ	HOG000261683
HOVERGENⁱ	HBG000313
InParanoidⁱ	Q8NHW3
KEGG Orthology (KO) More...KOⁱ	K07595
OMAⁱ	EDLYWMS
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G0H46
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 Transciption_factor_Maf_fam
PANTHERⁱ	PTHR10129 PTHR10129, 1 hit PTHR10129:SF30 PTHR10129:SF30, 1 hit
Pfam protein domain database More...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

Sequenceⁱ

Sequence statusⁱ: Complete.

Q8NHW3-1 [UniParc]FASTA Add 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

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 Publication		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.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS34955.1
NCBI Reference Sequences More...RefSeqⁱ	NP_963883.2, NM_201589.3
UniGeneⁱ	Hs.521914

Genome annotation databases

Ensemblⁱ	ENST00000333480; ENSP00000328364; ENSG00000182759
GeneIDⁱ	389692
KEGGⁱ	hsa:389692
UCSC genome browser More...UCSCⁱ	uc003yyc.3 human

Similar proteinsⁱ

90% Identity
50% Identity

Protein	Similar proteins		Species	Score	Length	Source
Q8NHW3	Transcription factor MafA		RAT		361	UniRef90_Q8NHW3
Transcription factor MafA		MOUSE		359
transcription factor MafA		MESAU		361
Uncharacterized protein		ICTTR		360
MAFA isoform 2		PONAB		359
+48

Protein	Similar proteins		Species	Score	Length	Source
Q8NHW3	Transcription factor MafA		RAT		361	UniRef50_Q8NHW3
Transcription factor MafA		MOUSE		359
transcription factor MafA		MESAU		361
Uncharacterized protein		ICTTR		360
MAFA isoform 2		PONAB		359
+49

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
UniGeneⁱ	Hs.521914

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	4EOT	X-ray	2.86	A/B	226-318	[»]
ProteinModelPortalⁱ	Q8NHW3
SMRⁱ	Q8NHW3
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	133233, 9 interactors
STRINGⁱ	9606.ENSP00000328364

PTM databases

iPTMnetⁱ	Q8NHW3
PhosphoSitePlusⁱ	Q8NHW3

Polymorphism and mutation databases

BioMutaⁱ	MAFA
DMDMⁱ	296435511

Proteomic databases

PaxDbⁱ	Q8NHW3
PeptideAtlasⁱ	Q8NHW3
PRIDEⁱ	Q8NHW3
ProteomicsDBⁱ	73768
TopDownProteomicsⁱ	Q8NHW3

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000333480; ENSP00000328364; ENSG00000182759
GeneIDⁱ	389692
KEGGⁱ	hsa:389692
UCSCⁱ	uc003yyc.3 human

Organism-specific databases

CTDⁱ	389692
DisGeNETⁱ	389692
EuPathDBⁱ	HostDB:ENSG00000182759.3
GeneCardsⁱ	MAFA
HGNCⁱ	HGNC:23145 MAFA
MalaCardsⁱ	MAFA
MIMⁱ	147630 phenotype 610303 gene
neXtProtⁱ	NX_Q8NHW3
OpenTargetsⁱ	ENSG00000182759
PharmGKBⁱ	PA134963361
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	ENOG410ISHR Eukaryota ENOG4112BJ1 LUCA
GeneTreeⁱ	ENSGT00550000074549
HOGENOMⁱ	HOG000261683
HOVERGENⁱ	HBG000313
InParanoidⁱ	Q8NHW3
KOⁱ	K07595
OMAⁱ	EDLYWMS
OrthoDBⁱ	EOG091G0H46
PhylomeDBⁱ	Q8NHW3
TreeFamⁱ	TF325689

Enzyme and pathway databases

Reactomeⁱ	R-HSA-210745 Regulation of gene expression in beta cells
SIGNORⁱ	Q8NHW3

Miscellaneous databases

GeneWikiⁱ	MAFA_(gene)
GenomeRNAiⁱ	389692
Protein Ontology More...PROⁱ	PR:Q8NHW3
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000182759 Expressed in 58 organ(s), highest expression level in skeletal muscle tissue
CleanExⁱ	HS_MAFA

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 Transciption_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
ProtoNetⁱ	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:	November 7, 2018
	This is version 126 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, Complete proteome, Reference proteome

Documents

SIMILARITY comments
Index of protein domains and families
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
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
Human chromosome 8
Human chromosome 8: entries, gene names and cross-references to MIM

UniProtKB

UniParc

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UniRef

Proteomes

Annotation systems

Supporting data

UniProtKB - Q8NHW3 (MAFA_HUMAN)

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Transcription factor MafA

MAFA

Select a section on the left to see content.

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Nucleus

Nucleus

Keywords - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Keywords - Diseasei

Organism-specific databases

Polymorphism and mutation databases

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Amino acid modifications

Keywords - PTMi

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

GO - Molecular functioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Region

Compositional bias

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

Experimental Info

Natural variant

Sequence databases

Genome annotation databases

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Polymorphism and mutation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Documents

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

Keywords - Cellular componentⁱ

Pathology & Biotechⁱ

Keywords - Diseaseⁱ

PTM / Processingⁱ

Keywords - PTMⁱ

Expressionⁱ

Interactionⁱ

GO - Molecular functionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ

Keywords - Technical termⁱ