MAFA
entrez
389692
canonical
uniprot
Q8NHW3
canonical
ensembl
ENSG00000182759
resolver
ensp
ENSP00000328364
resolver
enst
ENST00000333480
resolver
genesymbol
MAFA
resolver
hgnc
HGNC:23145
resolver
uniprot_entry
MAFA_HUMAN
resolver
amino_acid_sequence
MAAELAMGAELPSSPLAIEYVNDFDLMKFEVKKEPPEAERFCHRLPPGSLSSTPLSTPCSSVPSSPSFCAPSPGTGGGGGAGGGGGSSQAGGAPGPPSGGPGAVGGTSGKPALEDLYWMSGYQHHLNPEALNLTPEDAVEALIGSGHHGAHHGAHHPAAAAAYEAFRGPGFAGGGGADDMGAGHHHGAHHAAHHHHAAHHHHHHHHHHGGAGHGGGAGHHVRLEERFSDDQLVSMSVRELNRQLRGFSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHILESEKCQLQSQVEQLKLEVGRLAKERDLYKEKYEKLAGRGGPGSAGGAGFPREPSPPQAGPGGAKGTADFFL
uniprot
proteins
disease_involvement
DISEASE: Insulinomatosis and diabetes mellitus (INSDM) [MIM:147630]: An 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. {ECO:0000269|PubMed:29339498}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcription factor that activates insulin gene expression (PubMed:12011435, PubMed:15993959). 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). {ECO:0000269|PubMed:12011435, ECO:0000269|PubMed:15993959, ECO:0000269|PubMed:23148532, ECO:0000269|PubMed:29339498}.
uniprot
proteins
mass_dalton
36982
uniprot
proteins
post_translational_modification
PTM: Ubiquitinated, leading to its degradation by the proteasome. {ECO:0000250|UniProtKB:O57342}.; PTM: Phosphorylated at tyrosines. {ECO:0000250|UniProtKB:Q8CF90}.
uniprot
proteins
protein_family
BZIP family
uniprot
proteins
protein_family
Maf subfamily
uniprot
proteins
pubmed
12011435
uniprot
proteins
pubmed
12368292
uniprot
proteins
pubmed
12917329
uniprot
proteins
pubmed
15993959
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
23148532
uniprot
proteins
pubmed
28112733
uniprot
proteins
pubmed
29339498
uniprot
proteins
sequence_length
353
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00978, ECO:0000269|PubMed:12011435, ECO:0000269|PubMed:12917329}.
uniprot
proteins