LOCUS       NM_201589               2669 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens MAF bZIP transcription factor A (MAFA), mRNA.
ACCESSION   NM_201589 XM_372061
VERSION     NM_201589.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 2669)
  AUTHORS   Aida,Y. and Kataoka,K.
  TITLE     CREB activates the MafA promoter through proximal E-boxes and a
            CCAAT motif in pancreatic beta-cells
  JOURNAL   J Mol Endocrinol 73 (3), e240023 (2024)
   PUBMED   39189982
  REMARK    GeneRIF: CREB activates the MafA promoter through proximal E-boxes
            and a CCAAT motif in pancreatic beta-cells.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2669)
  AUTHORS   Zhang,Z., Li,M., Lin,P., Ren,Y., He,Y., Wang,S., Xu,Y., Cao,B.,
            Wang,G., Moran,M.F. and Mao,X.
  TITLE     The ubiquitin ligase HERC4 suppresses MafA transcriptional activity
            triggered by GSK3beta in myeloma by atypical K63-linked
            polyubiquitination
  JOURNAL   J Biol Chem 299 (5), 104675 (2023)
   PUBMED   37028761
  REMARK    GeneRIF: The ubiquitin ligase HERC4 suppresses MafA transcriptional
            activity triggered by GSK3beta in myeloma by atypical K63-linked
            polyubiquitination.
REFERENCE   3  (bases 1 to 2669)
  AUTHORS   Leenders,F., Groen,N., de Graaf,N., Engelse,M.A., Rabelink,T.J., de
            Koning,E.J.P. and Carlotti,F.
  TITLE     Oxidative Stress Leads to beta-Cell Dysfunction Through Loss of
            beta-Cell Identity
  JOURNAL   Front Immunol 12, 690379 (2021)
   PUBMED   34804002
  REMARK    GeneRIF: Oxidative Stress Leads to beta-Cell Dysfunction Through
            Loss of beta-Cell Identity.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2669)
  AUTHORS   Mintziras,I., Peer,K., Goerlach,J., Goebel,J.N., Ramaswamy,A.,
            Slater,E.P., Kann,P.H. and Bartsch,D.K.
  TITLE     Adult Proinsulinomatosis Associated With a MAFA Germline Mutation
            as a Rare Cause of Recurrent Hypoglycemia
  JOURNAL   Pancreas 50 (10), 1450-1453 (2021)
   PUBMED   35041347
  REMARK    GeneRIF: Adult Proinsulinomatosis Associated With a MAFA Germline
            Mutation as a Rare Cause of Recurrent Hypoglycemia.
REFERENCE   5  (bases 1 to 2669)
  AUTHORS   Walker,E.M., Cha,J., Tong,X., Guo,M., Liu,J.H., Yu,S.,
            Iacovazzo,D., Mauvais-Jarvis,F., Flanagan,S.E., Korbonits,M.,
            Stafford,J., Jacobson,D.A. and Stein,R.
  TITLE     Sex-biased islet beta cell dysfunction is caused by the MODY MAFA
            S64F variant by inducing premature aging and senescence in males
  JOURNAL   Cell Rep 37 (2), 109813 (2021)
   PUBMED   34644565
  REMARK    GeneRIF: Sex-biased islet beta cell dysfunction is caused by the
            MODY MAFA S64F variant by inducing premature aging and senescence
            in males.
REFERENCE   6  (bases 1 to 2669)
  AUTHORS   Kaneto,H., Matsuoka,T.A., Nakatani,Y., Miyatsuka,T., Matsuhisa,M.,
            Hori,M. and Yamasaki,Y.
  TITLE     A crucial role of MafA as a novel therapeutic target for diabetes
  JOURNAL   J Biol Chem 280 (15), 15047-15052 (2005)
   PUBMED   15664997
  REMARK    GeneRIF: mafA has a role in regulating insulin gene expression in
            the liver
REFERENCE   7  (bases 1 to 2669)
  AUTHORS   Matsuoka,T.A., Artner,I., Henderson,E., Means,A., Sander,M. and
            Stein,R.
  TITLE     The MafA transcription factor appears to be responsible for
            tissue-specific expression of insulin
  JOURNAL   Proc Natl Acad Sci U S A 101 (9), 2930-2933 (2004)
   PUBMED   14973194
  REMARK    GeneRIF: MafA selectively induces endogenous insulin transcription
            in non-beta cells
REFERENCE   8  (bases 1 to 2669)
  AUTHORS   Kataoka,K., Han,S.I., Shioda,S., Hirai,M., Nishizawa,M. and
            Handa,H.
  TITLE     MafA is a glucose-regulated and pancreatic beta-cell-specific
            transcriptional activator for the insulin gene
  JOURNAL   J Biol Chem 277 (51), 49903-49910 (2002)
   PUBMED   12368292
REFERENCE   9  (bases 1 to 2669)
  AUTHORS   Olbrot,M., Rud,J., Moss,L.G. and Sharma,A.
  TITLE     Identification of beta-cell-specific insulin gene transcription
            factor RIPE3b1 as mammalian MafA
  JOURNAL   Proc Natl Acad Sci U S A 99 (10), 6737-6742 (2002)
   PUBMED   12011435
REFERENCE   10 (bases 1 to 2669)
  AUTHORS   Benkhelifa,S., Provot,S., Nabais,E., Eychene,A., Calothy,G. and
            Felder-Schmittbuhl,M.P.
  TITLE     Phosphorylation of MafA is essential for its transcriptional and
            biological properties
  JOURNAL   Mol Cell Biol 21 (14), 4441-4452 (2001)
   PUBMED   11416124
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AC105118.23.
            
            On May 17, 2019 this sequence version replaced NM_201589.3.
            
            Summary: MAFA is a transcription factor that binds RIPE3b, a
            conserved enhancer element that regulates pancreatic beta
            cell-specific expression of the insulin gene (INS; MIM 176730)
            (Olbrot et al., 2002 [PubMed 12011435]).[supplied by OMIM, Mar
            2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000333480.3/ ENSP00000328364.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2669              AC105118.23        98045-100713        c
FEATURES             Location/Qualifiers
     source          1..2669
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="8"
                     /map="8q24.3"
     gene            1..2669
                     /gene="MAFA"
                     /gene_synonym="hMafA; INSDM; RIPE3b1"
                     /note="MAF bZIP transcription factor A"
                     /db_xref="GeneID:389692"
                     /db_xref="HGNC:HGNC:23145"
                     /db_xref="MIM:610303"
     exon            1..2669
                     /gene="MAFA"
                     /gene_synonym="hMafA; INSDM; RIPE3b1"
                     /inference="alignment:Splign:2.1.0"
     CDS             327..1388
                     /gene="MAFA"
                     /gene_synonym="hMafA; INSDM; RIPE3b1"
                     /note="transcription factor RIPE3b1; pancreatic
                     beta-cell-specific transcriptional activator; v-maf avian
                     musculoaponeurotic fibrosarcoma oncogene homolog A;
                     RIPE3b1 factor; RIPE3b1 activator"
                     /codon_start=1
                     /product="transcription factor MafA"
                     /protein_id="NP_963883.2"
                     /db_xref="CCDS:CCDS34955.1"
                     /db_xref="GeneID:389692"
                     /db_xref="HGNC:HGNC:23145"
                     /db_xref="MIM:610303"
                     /translation="MAAELAMGAELPSSPLAIEYVNDFDLMKFEVKKEPPEAERFCHR
                     LPPGSLSSTPLSTPCSSVPSSPSFCAPSPGTGGGGGAGGGGGSSQAGGAPGPPSGGPG
                     AVGGTSGKPALEDLYWMSGYQHHLNPEALNLTPEDAVEALIGSGHHGAHHGAHHPAAA
                     AAYEAFRGPGFAGGGGADDMGAGHHHGAHHAAHHHHAAHHHHHHHHHHGGAGHGGGAG
                     HHVRLEERFSDDQLVSMSVRELNRQLRGFSKEEVIRLKQKRRTLKNRGYAQSCRFKRV
                     QQRHILESEKCQLQSQVEQLKLEVGRLAKERDLYKEKYEKLAGRGGPGSAGGAGFPRE
                     PSPPQAGPGGAKGTADFFL"
     regulatory      2649..2654
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAFA"
                     /gene_synonym="hMafA; INSDM; RIPE3b1"
                     /note="hexamer: AATAAA"
     polyA_site      2669
                     /gene="MAFA"
                     /gene_synonym="hMafA; INSDM; RIPE3b1"
                     /note="major polyA site"
ORIGIN      
        1 agccgtggga ggcggggccg gccggcggcg cgggtggggc gcgggagcgg tcccggagca
       61 gcccgaggcg gcggccgcgg ggaggaggcg gcgacgcggg cccggggtcg cccgagacac
      121 ctggccagcg gtgcccctag cgcgccgccc cggagttgac cacgtgaaac ttttccctgc
      181 gcccctcggc gccgccgccc cgcgccggcg cccccccgcc cccgccggga ccgccgcccg
      241 cggggagcag gggggggaga ggcctgcagc tcccccccca ctcccacgcc gcccgtcggg
      301 gcgcggccgg gcgcgggccc cgggcgatgg ccgcggagct ggcgatgggc gccgagctgc
      361 ccagcagccc gctggccatc gagtacgtca acgacttcga cctgatgaag ttcgaggtga
      421 agaaggagcc tcccgaggcc gagcgcttct gccaccgcct gccgccaggc tcgctgtcct
      481 cgacgccgct cagcacgccc tgctcctccg tgccctcctc gcccagcttc tgcgcgccca
      541 gcccgggcac cggcggcggc ggcggcgcgg ggggcggcgg cggctcgtct caggccgggg
      601 gcgcccccgg gccgccgagc gggggccccg gcgccgtcgg gggcacctcg gggaagccgg
      661 cgctggagga tctgtactgg atgagcggct accagcatca cctcaacccc gaggcgctca
      721 acctgacgcc cgaggacgcg gtggaggcgc tcatcggcag cggccaccac ggcgcgcacc
      781 acggcgcgca ccacccggcg gccgccgcag cctacgaggc tttccgcggc ccgggcttcg
      841 cgggcggcgg cggagcggac gacatgggcg ccggccacca ccacggcgcg caccacgccg
      901 cccaccatca ccacgccgcc caccaccacc accaccacca ccaccaccat ggcggcgcgg
      961 gacacggcgg tggcgcgggc caccacgtgc gcctggagga gcgcttctcc gacgaccagc
     1021 tggtgtccat gtcggtgcgc gagctgaacc ggcagctccg cggcttcagc aaggaggagg
     1081 tcatccggct caagcagaag cggcgcacgc tcaagaaccg cggctacgcg cagtcctgcc
     1141 gcttcaagcg ggtgcagcag cggcacattc tggagagcga gaagtgccaa ctccagagcc
     1201 aggtggagca gctgaagctg gaggtggggc gcctggccaa agagcgggac ctgtacaagg
     1261 agaaatacga gaagctggcg ggccggggcg gccccgggag cgcgggcggg gccggtttcc
     1321 cgcgggagcc ttcgccgccg caggccggtc ccggcggggc caagggcacg gccgacttct
     1381 tcctgtaggc gccggacccc gagcccgcgc cgccgtcgcc ggggacaagt tcgcgcaggc
     1441 ctctcggggc ctcggctcgg actccgcggt acaggacgtg gacaccaggc ccggcccggc
     1501 cgtgctggcc ccggtgccaa gtctgcgggc gcggggctgg aggccccttc gctcccggtc
     1561 cccgttcgcg cgcgtcggcc cgggtcgccg tcctgaggtt gagcggagaa cggtgatttc
     1621 taaggaaact tgagccaggt ctaacttctt tccaagcgtc cgcttgtaca tacgttgaac
     1681 gtggttctcc gttcccacct tcgccctgcc agcctagagg gaccgcgctg ccgtcccttc
     1741 ccgggtggcc cctgcctgcc cccgccctcc ttcgttctct tctcagcctc cctttccttg
     1801 ccttttttaa cttcccctcc ccgttttaaa atcggtctta ttttcgaagt atttataatt
     1861 attatgcttg gtgattagaa aagaaaacct tggaggaagc cccttctttc cccagccggg
     1921 gtccgccctc agtcgcgagt cacagcatga gtcgctcgcc aggaggggcc cggcccctgc
     1981 ctgccccctc cccgcttgcc cccgaccctg ctaccggcgt tccttggagg tcgaagccag
     2041 ggacgtcacc cgtgctgtgt ccaggcctgc tgtcctacta tgctcaaccg ggggtggggg
     2101 gaggggggtg agtcctgtgc tcagtcgggt gggggctggc ccggatcccg agctgctgtc
     2161 tctctatgca ccagaacata tctgtaactc ctggggaaat acatcttgtt ttaaccttca
     2221 agagaagtga aagaaaaaag taatgcacag tatttctagc agaaaatttt tttttttaag
     2281 aggaggcttg ggccagagcc ttctggcatg gggcgggtgg agaaagtgtt tttattttaa
     2341 tttaaattgt gtttcgtttt gtttgtggaa tctttcttta atgcttcgtc gctctttgga
     2401 ctagccggga gagagggcga ggaggcgggt gctccaggcc ctgtaggctg ggccaggcgc
     2461 ctgggggatc tgcccgtttt cggaggccct caggggccat cagtgggatt ccagccgctc
     2521 cacacccctc ccctgagcac tcggagtgga aggcgcgccg actcgttgaa agttttgttg
     2581 tgtagttggt tttcgttgag ttcttttttc atttgctacg aaactgagaa aaagaaaaaa
     2641 atacacaaaa taaatctgtt cagatccaa
//
