LOCUS       NM_198204               2360 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens MAX dimerization protein MLX (MLX), transcript variant
            2, mRNA.
ACCESSION   NM_198204
VERSION     NM_198204.2
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 2360)
  AUTHORS   Nagarajan,S.R., Livingstone,E.J., Monfeuga,T., Lewis,L.C.,
            Ali,S.H.L., Chandran,A., Dearlove,D.J., Neville,M.J., Chen,L.,
            Maroteau,C., Ruby,M.A. and Hodson,L.
  TITLE     MLX plays a key role in lipid and glucose metabolism in humans:
            Evidence from in vitro and in vivo studies
  JOURNAL   Metabolism 144, 155563 (2023)
   PUBMED   37088121
  REMARK    GeneRIF: MLX plays a key role in lipid and glucose metabolism in
            humans: Evidence from in vitro and in vivo studies.
REFERENCE   2  (bases 1 to 2360)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 2360)
  AUTHORS   Lafita-Navarro,M.C., Liano-Pons,J., Quintanilla,A., Varela,I.,
            Blanco,R., Ourique,F., Bretones,G., Aresti,J., Molina,E.,
            Carroll,P., Hurlin,P., Romero,O.A., Sanchez-Cespedes,M.,
            Eisenman,R.N., Delgado,M.D. and Leon,J.
  TITLE     The MNT transcription factor autoregulates its expression and
            supports proliferation in MYC-associated factor X (MAX)-deficient
            cells
  JOURNAL   J Biol Chem 295 (7), 2001-2017 (2020)
   PUBMED   31919096
  REMARK    GeneRIF: The MNT transcription factor autoregulates its expression
            and supports proliferation in MYC-associated factor X
            (MAX)-deficient cells.
REFERENCE   4  (bases 1 to 2360)
  AUTHORS   Fragoza,R., Das,J., Wierbowski,S.D., Liang,J., Tran,T.N., Liang,S.,
            Beltran,J.F., Rivera-Erick,C.A., Ye,K., Wang,T.Y., Yao,L., Mort,M.,
            Stenson,P.D., Cooper,D.N., Wei,X., Keinan,A., Schimenti,J.C.,
            Clark,A.G. and Yu,H.
  TITLE     Extensive disruption of protein interactions by genetic variants
            across the allele frequency spectrum in human populations
  JOURNAL   Nat Commun 10 (1), 4141 (2019)
   PUBMED   31515488
  REMARK    Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2360)
  AUTHORS   Tamura,N., Maejima,Y., Matsumura,T., Vega,R.B., Amiya,E., Ito,Y.,
            Shiheido-Watanabe,Y., Ashikaga,T., Komuro,I., Kelly,D.P., Hirao,K.
            and Isobe,M.
  TITLE     Single-Nucleotide Polymorphism of the MLX Gene Is Associated With
            Takayasu Arteritis
  JOURNAL   Circ Genom Precis Med 11 (10), e002296 (2018)
   PUBMED   30354298
  REMARK    GeneRIF: MLX-Q139R mutation plays a crucial role in the
            pathogenesis of Takayasu arteritis through promoting inflammasome
            formation.
REFERENCE   6  (bases 1 to 2360)
  AUTHORS   Cairo,S., Merla,G., Urbinati,F., Ballabio,A. and Reymond,A.
  TITLE     WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted
            region, is a new member of the Mlx transcription factor network
  JOURNAL   Hum Mol Genet 10 (6), 617-627 (2001)
   PUBMED   11230181
REFERENCE   7  (bases 1 to 2360)
  AUTHORS   Billin,A.N., Eilers,A.L., Coulter,K.L., Logan,J.S. and Ayer,D.E.
  TITLE     MondoA, a novel basic helix-loop-helix-leucine zipper
            transcriptional activator that constitutes a positive branch of a
            max-like network
  JOURNAL   Mol Cell Biol 20 (23), 8845-8854 (2000)
   PUBMED   11073985
REFERENCE   8  (bases 1 to 2360)
  AUTHORS   Meroni,G., Cairo,S., Merla,G., Messali,S., Brent,R., Ballabio,A.
            and Reymond,A.
  TITLE     Mlx, a new Max-like bHLHZip family member: the center stage of a
            novel transcription factors regulatory pathway?
  JOURNAL   Oncogene 19 (29), 3266-3277 (2000)
   PUBMED   10918583
REFERENCE   9  (bases 1 to 2360)
  AUTHORS   Billin,A.N., Eilers,A.L., Queva,C. and Ayer,D.E.
  TITLE     Mlx, a novel Max-like BHLHZip protein that interacts with the Max
            network of transcription factors
  JOURNAL   J Biol Chem 274 (51), 36344-36350 (1999)
   PUBMED   10593926
REFERENCE   10 (bases 1 to 2360)
  AUTHORS   Bjerknes,M. and Cheng,H.
  TITLE     TCFL4: a gene at 17q21.1 encoding a putative basic helix-loop-helix
            leucine-zipper transcription factor
  JOURNAL   Gene 181 (1-2), 7-11 (1996)
   PUBMED   8973301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC067852.23.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 2, 2019 this sequence version replaced NM_198204.1.
            
            Summary: The product of this gene belongs to the family of basic
            helix-loop-helix leucine zipper (bHLH-Zip) transcription factors.
            These factors form heterodimers with Mad proteins and play a role
            in proliferation, determination and differentiation. This gene
            product may act to diversify Mad family function by its restricted
            association with a subset of the Mad family of transcriptional
            repressors, namely, Mad1 and Mad4. Alternatively spliced transcript
            variants encoding different isoforms have been identified for this
            gene. [provided by RefSeq, Jul 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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF213667.1, BC010689.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000435881.7/ ENSP00000416627.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-67                AC067852.23        110862-110928       c
            68-104              AC067852.23        110373-110409       c
            105-194             AC067852.23        109469-109558       c
            195-301             AC067852.23        109085-109191       c
            302-401             AC067852.23        108725-108824       c
            402-501             AC067852.23        108422-108521       c
            502-703             AC067852.23        107845-108046       c
            704-2360            AC067852.23        104825-106481       c
FEATURES             Location/Qualifiers
     source          1..2360
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q21.2"
     gene            1..2360
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /note="MAX dimerization protein MLX"
                     /db_xref="GeneID:6945"
                     /db_xref="HGNC:HGNC:11645"
                     /db_xref="MIM:602976"
     exon            1..67
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /inference="alignment:Splign:2.1.0"
     CDS             26..760
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /note="isoform beta is encoded by transcript variant 2;
                     MAX-like bHLHZIP protein; BigMax protein; transcription
                     factor-like protein 4; class D basic helix-loop-helix
                     protein 13; MAX-like protein X; MLX, MAX dimerization
                     protein"
                     /codon_start=1
                     /product="max-like protein X isoform beta"
                     /protein_id="NP_937847.1"
                     /db_xref="CCDS:CCDS45687.1"
                     /db_xref="GeneID:6945"
                     /db_xref="HGNC:HGNC:11645"
                     /db_xref="MIM:602976"
                     /translation="MTEPGASPEDPWVKVEYAYSDNSLDPGLFVESTRKGSVVSRANS
                     IGSTSASSVPNTDDEDSDYHQEAYKESYKDRRRRAHTQAEQKRRDAIKRGYDDLQTIV
                     PTCQQQDFSIGSQKLSKAIVLQKTIDYIQFLHKEKKKQEEEVSTLRKDVTALKIMKVN
                     YEQIVKAHQDNPHEGEDQVSDQVKFNVFQGIMDSLFQSFNASISVASFQELSACVFSW
                     IEEHCKPQTLREIVIGVLHQLKNQLY"
     exon            68..104
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /inference="alignment:Splign:2.1.0"
     exon            105..194
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /inference="alignment:Splign:2.1.0"
     exon            195..301
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /inference="alignment:Splign:2.1.0"
     exon            302..401
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /inference="alignment:Splign:2.1.0"
     exon            402..501
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /inference="alignment:Splign:2.1.0"
     exon            502..703
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /inference="alignment:Splign:2.1.0"
     exon            704..2360
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      972..977
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /note="hexamer: GATAAA"
     polyA_site      992
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /note="major polyA site"
     regulatory      1843..1848
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /note="hexamer: AATAAA"
     polyA_site      1870
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /note="major polyA site"
     regulatory      2333..2338
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
                     /note="hexamer: AATAAA"
     polyA_site      2360
                     /gene="MLX"
                     /gene_synonym="bHLHd13; MAD7; MXD7; TCFL4; TF4"
ORIGIN      
        1 ccgtttccgg tccggtgggt acaagatgac ggagccgggc gcctctcccg aggacccttg
       61 ggtcaaggtg gagtatgcct acagcgacaa cagcctggac cccgggcttt ttgtagaaag
      121 cacccgcaag gggagtgtag tgtccagagc taatagcatc ggttccacca gtgcctcttc
      181 tgtccccaac acagatgatg aggacagtga ttaccaccag gaggcctaca aggagtccta
      241 caaagaccgg cggcggcgcg cacacactca ggctgagcag aagaggaggg acgccatcaa
      301 gagaggctat gatgaccttc agaccatcgt ccccacttgc cagcagcagg acttctccat
      361 tggctcccaa aagctcagca aagccatcgt tctacaaaag accattgact acattcagtt
      421 tttgcacaag gagaagaaaa agcaggagga ggaggtgtcc acgttacgca aggatgtcac
      481 cgccctaaag atcatgaaag tgaactatga gcagattgtg aaggcacacc aggacaaccc
      541 ccatgaaggg gaggaccagg tctctgacca ggtcaagttc aacgtgtttc aaggcatcat
      601 ggattccctg ttccagtcct tcaatgcctc catctcagtg gccagcttcc aggagctgtc
      661 agcgtgtgtc ttcagctgga tcgaggagca ctgtaagcct cagaccctgc gggagattgt
      721 gattggcgtc ctgcaccaat tgaaaaacca gctttactga ccggttcttg gaaacctgga
      781 gaacagccaa caagaggccc ttgaatctct acgtggccac tgaactgctg ggcccgggag
      841 actggactac aacacctcac actggtcagc tggtttctac ttggtgtttg gtttttccca
      901 gccccatttt atcttcagcg gagccgcggt gtttgttttg tgaaagcttc tgattaattt
      961 attatattga cgataaaact caaacctacc cagccttccc cccactccat ggaagtcctt
     1021 gggatgggcg tctgctctgg acaccccaaa gagctcctgc cctctcagcc ctttattcaa
     1081 gcctcagatt tctgctcatg atctacatag atttggaaac tgttttcctc tgttttggtc
     1141 tcttgggcaa catttttggc ccaagtttgg gcaacatttg gcccaagttt gggcattttg
     1201 gcagtagctg tatgggagaa aaagagtaag aggaaatatt cccacagcca tgaagggtga
     1261 aagggcacct tgtgcctaga ctagggctgc ctggtcagtc ccaggtgagg ccaagggctt
     1321 tctggccatc tcagggaggg gccaccaggt tcctcccctc accccatatt ccatcacctt
     1381 cctcctctgc tctgggtggt aagggaagcc ctcccggttc ccacaggcta tgatgctgca
     1441 tggcagaggc aggtataaca cagcactaca tattggaaat tttttatttt tctaaatacc
     1501 aatgcagttt tgctacggtt acaattttga aatattaact gagcctcaaa atcacccttt
     1561 ctgtcaagca tatcttggcc tctcccatgt ctcagtgttg cctgcatttc tcccaggact
     1621 tgggggtggg gtgaaaagcg tacaaaagat acttaaaagg gctcctgggg tacacaagcc
     1681 cagcaggtcc tgagtgaagc cgtgggccct ccaaatgctc gttttatagc aacctctctc
     1741 taccctagtt ctccaaattc acttctgcct tcctcaggtt tgatatctgg caggtttgac
     1801 tatccagagg aaattaaata tttttatata aaattaaatt ataataaata ttgccaaatg
     1861 ctttccttta gcattgttcc aagtctaaat gttaacctca agctactgca atttagacaa
     1921 tgaaatgggc tgggtctacc cccagccacc agccctcatc ctctctaccc agtgctctgg
     1981 tttatgcttg tctcctgact gctctgctta aaggtgaaag tagcaggaac aacaacaaaa
     2041 gccaaccaaa aacaaggtag ccagtgcaag acatctcact cttctgacat cctgcagtcc
     2101 ccaccagtcc tgaccgtggg cccctcaggg gtctgggagt gtgacgttgt aatcttcatc
     2161 cgtctctatc ccaacttcct cctgtgagac agggagacaa gtgaatgaga tgtcaccagg
     2221 ataagaccac agggaagcaa agaaggaaga gagctccact tacaaagaac tgcttcttgc
     2281 tcttggggta tccttcaagt attgcatcag acagctctgt agcctgacaa gaaataaaac
     2341 cacccgtttt cagatgggca
//
