LOCUS       NM_032951               3252 bp    mRNA    linear   PRI 11-FEB-2025
DEFINITION  Homo sapiens MLX interacting protein like (MLXIPL), transcript
            variant 1, mRNA.
ACCESSION   NM_032951
VERSION     NM_032951.3
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 3252)
  AUTHORS   Hehl,L., Creasy,K.T., Vitali,C., Scorletti,E., Seeling,K.S.,
            Vell,M.S., Rendel,M.D., Conlon,D., Vujkovic,M., Zandvakili,I.,
            Trautwein,C., Schneider,K.M., Rader,D.J. and Schneider,C.V.
  CONSRTM   Regeneron Genetics Center
  TITLE     A genome-first approach to variants in MLXIPL and their association
            with hepatic steatosis and plasma lipids
  JOURNAL   Hepatol Commun 8 (5), e0427 (2024)
   PUBMED   38668731
  REMARK    GeneRIF: A genome-first approach to variants in MLXIPL and their
            association with hepatic steatosis and plasma lipids.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3252)
  AUTHORS   Chuah,M.H., Leask,M.P., Topless,R.K., Gamble,G.D., Sumpter,N.A.,
            Stamp,L.K., Merriman,T.R. and Dalbeth,N.
  TITLE     Interaction of genetic variation at ADH1B and MLXIPL with alcohol
            consumption for elevated serum urate level and gout among people of
            European ethnicity
  JOURNAL   Arthritis Res Ther 26 (1), 45 (2024)
   PUBMED   38331848
  REMARK    GeneRIF: Interaction of genetic variation at ADH1B and MLXIPL with
            alcohol consumption for elevated serum urate level and gout among
            people of European ethnicity.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3252)
  AUTHORS   Sui,Y., Du,C., Wang,M., Liu,X., Chai,Q., Liang,S., Ma,J. and
            Duan,J.
  TITLE     Knockdown of ChREBP ameliorates retinal microvascular endothelial
            cell injury and angiogenic responses in diabetic retinopathy
  JOURNAL   Biochem Biophys Res Commun 694, 149389 (2024)
   PUBMED   38128383
  REMARK    GeneRIF: Knockdown of ChREBP ameliorates retinal microvascular
            endothelial cell injury and angiogenic responses in diabetic
            retinopathy.
REFERENCE   4  (bases 1 to 3252)
  AUTHORS   Singh,C., Jin,B., Shrestha,N., Markhard,A.L., Panda,A., Calvo,S.E.,
            Deik,A., Pan,X., Zuckerman,A.L., Ben Saad,A., Corey,K.E.,
            Sjoquist,J., Osganian,S., AminiTabrizi,R., Rhee,E.P., Shah,H.,
            Goldberger,O., Mullen,A.C., Cracan,V., Clish,C.B., Mootha,V.K. and
            Goodman,R.P.
  TITLE     ChREBP is activated by reductive stress and mediates
            GCKR-associated metabolic traits
  JOURNAL   Cell Metab 36 (1), 144-158 (2024)
   PUBMED   38101397
  REMARK    GeneRIF: ChREBP is activated by reductive stress and mediates
            GCKR-associated metabolic traits.
REFERENCE   5  (bases 1 to 3252)
  AUTHORS   Regnier,M., Carbinatti,T., Parlati,L., Benhamed,F. and Postic,C.
  TITLE     The role of ChREBP in carbohydrate sensing and NAFLD development
  JOURNAL   Nat Rev Endocrinol 19 (6), 336-349 (2023)
   PUBMED   37055547
  REMARK    GeneRIF: The role of ChREBP in carbohydrate sensing and NAFLD
            development.
            Review article
REFERENCE   6  (bases 1 to 3252)
  AUTHORS   Kawaguchi,T., Takenoshita,M., Kabashima,T. and Uyeda,K.
  TITLE     Glucose and cAMP regulate the L-type pyruvate kinase gene by
            phosphorylation/dephosphorylation of the carbohydrate response
            element binding protein
  JOURNAL   Proc Natl Acad Sci U S A 98 (24), 13710-13715 (2001)
   PUBMED   11698644
REFERENCE   7  (bases 1 to 3252)
  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   8  (bases 1 to 3252)
  AUTHORS   de Luis,O., Valero,M.C. and Jurado,L.A.
  TITLE     WBSCR14, a putative transcription factor gene deleted in
            Williams-Beuren syndrome: complete characterisation of the human
            gene and the mouse ortholog
  JOURNAL   Eur J Hum Genet 8 (3), 215-222 (2000)
   PUBMED   10780788
REFERENCE   9  (bases 1 to 3252)
  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 3252)
  AUTHORS   Meng,X., Lu,X., Li,Z., Green,E.D., Massa,H., Trask,B.J.,
            Morris,C.A. and Keating,M.T.
  TITLE     Complete physical map of the common deletion region in Williams
            syndrome and identification and characterization of three novel
            genes
  JOURNAL   Hum Genet 103 (5), 590-599 (1998)
   PUBMED   9860302
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AF156603.1, AF245470.1 and
            BC012925.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_032951.2.
            
            Summary: This gene encodes a basic helix-loop-helix leucine zipper
            transcription factor of the Myc/Max/Mad superfamily. This protein
            forms a heterodimeric complex and binds and activates, in a
            glucose-dependent manner, carbohydrate response element (ChoRE)
            motifs in the promoters of triglyceride synthesis genes. The gene
            is deleted in Williams-Beuren syndrome, a multisystem developmental
            disorder caused by the deletion of contiguous genes at chromosome
            7q11.23. Alternative splicing results in multiple transcript
            variants. [provided by RefSeq, Dec 2015].
            
            Transcript Variant: This variant (1) represents the longest
            transcript and encodes the longest isoform (alpha).
            
            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 :: AF156603.1, AF245470.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000313375.8/ ENSP00000320886.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-30                AF156603.1         19-48
            31-2977             AF245470.1         1-2947
            2978-3252           BC012925.1         2978-3252
FEATURES             Location/Qualifiers
     source          1..3252
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="7"
                     /map="7q11.23"
     gene            1..3252
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /note="MLX interacting protein like"
                     /db_xref="GeneID:51085"
                     /db_xref="HGNC:HGNC:12744"
                     /db_xref="MIM:605678"
     exon            1..323
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..2589
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /note="isoform alpha is encoded by transcript variant 1;
                     carbohydrate response element binding protein; Williams
                     Beuren syndrome chromosome region 14; WS
                     basic-helix-loop-helix leucine zipper protein;
                     carbohydrate-responsive element-binding protein; Mlx
                     interactor; Williams-Beuren syndrome chromosome region 14
                     protein 3; williams-Beuren syndrome chromosomal region 14
                     protein; Williams-Beuren syndrome chromosome region 14
                     protein 2; Williams-Beuren syndrome chromosome region 14
                     protein 1; class D basic helix-loop-helix protein 14"
                     /codon_start=1
                     /product="carbohydrate-responsive element-binding protein
                     isoform alpha"
                     /protein_id="NP_116569.1"
                     /db_xref="CCDS:CCDS5553.1"
                     /db_xref="GeneID:51085"
                     /db_xref="HGNC:HGNC:12744"
                     /db_xref="MIM:605678"
                     /translation="MAGALAGLAAGLQVPRVAPSPDSDSDTDSEDPSLRRSAGGLLRS
                     QVIHSGHFMVSSPHSDSLPRRRDQEGSVGPSDFGPRSIDPTLTRLFECLSLAYSGKLV
                     SPKWKNFKGLKLLCRDKIRLNNAIWRAWYIQYVKRRKSPVCGFVTPLQGPEADAHRKP
                     EAVVLEGNYWKRRIEVVMREYHKWRIYYKKRLRKPSREDDLLAPKQAEGRWPPPEQWC
                     KQLFSSVVPVLLGDPEEEPGGRQLLDLNCFLSDISDTLFTMTQSGPSPLQLPPEDAYV
                     GNADMIQPDLTPLQPSLDDFMDISDFFTNSRLPQPPMPSNFPEPPSFSPVVDSLFSSG
                     TLGPEVPPASSAMTHLSGHSRLQARNSCPGPLDSSAFLSSDFLLPEDPKPRLPPPPVP
                     PPLLHYPPPAKVPGLEPCPPPPFPPMAPPTALLQEEPLFSPRFPFPTVPPAPGVSPLP
                     APAAFPPTPQSVPSPAPTPFPIELLPLGYSEPAFGPCFSMPRGKPPAPSPRGQKASPP
                     TLAPATASPPTTAGSNNPCLTQLLTAAKPEQALEPPLVSSTLLRSPGSPQETVPEFPC
                     TFLPPTPAPTPPRPPPGPATLAPSRPLLVPKAERLSPPAPSGSERRLSGDLSSMPGPG
                     TLSVRVSPPQPILSRGRPDSNKTENRRITHISAEQKRRFNIKLGFDTLHGLVSTLSAQ
                     PSLKVSKATTLQKTAEYILMLQQERAGLQEEAQQLRDEIEELNAAINLCQQQLPATGV
                     PITHQRFDQMRDMFDDYVRTRTLHNWKFWVFSILIRPLFESFNGMVSTASVHTLRQTS
                     LAWLDQYCSLPALRPTVLNSLRQLGTSTSILTDPGRIPEQATRAVTEGTLGKPL"
     exon            324..430
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            431..513
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            514..603
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            604..648
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            649..850
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            851..931
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1101
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            1102..1633
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            1634..1701
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            1702..1852
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            1853..1968
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            1969..2088
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            2089..2216
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            2217..2340
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            2341..2470
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     exon            2471..3252
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3234..3239
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /note="hexamer: AATAAA"
     polyA_site      3252
                     /gene="MLXIPL"
                     /gene_synonym="bHLHd14; CHREBP; MIO; MLX; MONDOB; WBSCR14;
                     WS-bHLH"
                     /note="major polyA site"
ORIGIN      
        1 agggaccagg cggttgcggc ggcgacagcc atggccggcg cgctggcagg tctggccgcg
       61 ggcttgcagg tcccgcgggt cgcgcccagc ccagactcgg actcggacac agactcggag
      121 gacccgagtc tccggcgcag cgcgggcggc ttgctccgct cgcaggtcat ccacagcggt
      181 cacttcatgg tgtcgtcgcc gcacagcgac tcgctgcccc ggcggcgcga ccaggagggg
      241 tccgtggggc cctccgactt cgggccgcgc agtatcgacc ccacactcac acgcctcttc
      301 gagtgcttga gcctggccta cagtggcaag ctggtgtctc ccaagtggaa gaatttcaaa
      361 ggcctcaagc tgctctgcag agacaagatc cgcctgaaca acgccatctg gagggcctgg
      421 tatatccagt atgtgaagcg gaggaagagc cccgtgtgtg gcttcgtgac ccccctgcag
      481 gggcctgagg ctgatgcgca ccggaagccg gaggccgtgg tcctggaggg gaactactgg
      541 aagcggcgca tcgaggtggt gatgcgggaa taccacaagt ggcgcatcta ctacaagaag
      601 cggctccgta agcccagcag ggaagatgac ctcctggccc ctaagcaggc ggaaggcagg
      661 tggccgccgc cggagcaatg gtgcaaacag ctcttctcca gtgtggtccc cgtgctgctg
      721 ggggacccag aggaggagcc gggtgggcgg cagctcctgg acctcaattg ctttttgtcc
      781 gacatctcag acactctctt caccatgact cagtccggcc cttcgcccct gcagctgccg
      841 cctgaggatg cctacgtcgg caatgctgac atgatccagc cggacctgac gccactgcag
      901 ccaagcctgg atgacttcat ggacatctca gatttcttta ccaactcccg cctcccacag
      961 ccgcccatgc cttcaaactt cccagagccc cccagcttca gccccgtggt tgactccctc
     1021 ttcagcagtg ggaccctggg cccagaggtg cccccggctt cctcggccat gacccacctc
     1081 tctggacaca gccgtctgca ggctcggaac agctgccctg gccccttgga ctccagcgcc
     1141 ttcctgagtt ctgatttcct ccttcctgaa gaccccaagc cccggctccc accccctcct
     1201 gtacccccac ctctgctgca ttaccctccc cctgccaagg tgccaggcct ggagccctgc
     1261 cccccacctc ccttccctcc catggcacca cccactgctt tgctgcagga agagcctctc
     1321 ttctctccca ggtttccctt ccccaccgtc cctcctgccc caggagtgtc tccgctgcct
     1381 gctcctgcag ccttcccacc caccccacag tctgtcccca gcccagcccc cacccccttc
     1441 cccatagagc ttctaccctt ggggtattcg gagcctgcct ttgggccttg cttctccatg
     1501 cccagaggca agccccccgc cccatcccct aggggacaga aagccagccc ccctacctta
     1561 gcccctgcca ctgccagtcc ccccaccact gcggggagca acaacccctg cctcacacag
     1621 ctgctcacag cagctaagcc ggagcaagcc ctggagccac cacttgtatc cagcaccctc
     1681 ctccggtccc cagggtcccc gcaggagaca gtccctgaat tcccctgcac attccttccc
     1741 ccgaccccgg cccctacacc gccccggcca cctccaggcc cggccacatt ggccccttcc
     1801 aggcccctgc ttgtccccaa agcggagcgg ctctcacccc cagcgcccag cggcagtgaa
     1861 cggcggctgt caggggacct cagctccatg ccaggccctg ggactctgag cgtccgtgtc
     1921 tctcccccgc aacccatcct cagccggggc cgtccagaca gcaacaagac cgagaaccgg
     1981 cgtatcacac acatctccgc ggagcagaag cggcgcttca acatcaagct ggggtttgac
     2041 acccttcatg ggctcgtgag cacactcagt gcccagccca gcctcaaggt gagcaaagct
     2101 accacgctgc agaagacagc tgagtacatc cttatgctac agcaggagcg tgcgggcttg
     2161 caggaggagg cccagcagct gcgggatgag attgaggagc tcaatgccgc cattaacctg
     2221 tgccagcagc agctgcccgc cacaggggta cccatcacac accagcgttt tgaccagatg
     2281 cgagacatgt ttgatgacta cgtccgaacc cgtacgctgc acaactggaa gttctgggtg
     2341 ttcagcatcc tcatccggcc tctgtttgag tccttcaacg ggatggtgtc cacggcaagt
     2401 gtgcacaccc tccgccagac ctcactggcc tggctggacc agtactgctc tctgcccgct
     2461 ctccggccaa ctgtcctgaa ctccctacgc cagctgggca catctaccag tatcctgacc
     2521 gacccgggcc gcatccctga gcaagccaca cgggcagtca cagagggcac ccttggcaaa
     2581 cctttatagt cctggccaga ccctgctgct cactcagctg ccctgggggc tgctttccct
     2641 gggcacgggc tccagggatc atctctgggc actcccttcc tgccccaggc cctggctctg
     2701 cccttccctg gggggtggag cagggtccag gtttcacact tgccacctcc tggaggtcaa
     2761 gaagagcaga gtccccgtcc ctgctctgcc actgtgctcc agcaccgtga ccttgggtga
     2821 ctcgtccgct gtctttggac cgctgtgttt caatctgcaa aatggggatg gggaaggttc
     2881 aatcagcaga tgacccccag gccttggcag ctgtgacatt gggggcctag gctggcaact
     2941 ccgggggctc aacggtggaa agaggaggat gctgtttctc tgtcacctcc acttgctccc
     3001 cgacaggtgg ggcacagacc tctgttcctg agcagagaag cagaaaagga ggttccctct
     3061 ctctgctcct tcactgctga cccagagggg ctgcaggatg gtttcccctg ggagaggcca
     3121 ggagggcctg atcccaggag acaccagggc cagagtgacc acagcagggc aggcatcatg
     3181 tgtgtgtgtg tgtgtggatg tgtgtgtgtg ggttttgtaa agaattcttg accaataaaa
     3241 gcaaaaactg tc
//
