LOCUS       NM_002382               2010 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens MYC associated factor X (MAX), transcript variant 1,
            mRNA.
ACCESSION   NM_002382
VERSION     NM_002382.5
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 2010)
  AUTHORS   Lian,B., Lu,J., Fang,X., Zhang,Y., Wang,W., He,Y., Yu,H., Li,F.,
            Wang,J., Chen,W. and Qi,X.
  TITLE     Genotype and clinical phenotype characteristics of MAX germline
            mutation-associated pheochromocytoma/paraganglioma syndrome
  JOURNAL   Front Endocrinol (Lausanne) 15, 1442691 (2024)
   PUBMED   39279998
  REMARK    GeneRIF: Genotype and clinical phenotype characteristics of MAX
            germline mutation-associated pheochromocytoma/paraganglioma
            syndrome.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2010)
  AUTHORS   Nair,S.K. and Burley,S.K.
  TITLE     X-ray structures of Myc-Max and Mad-Max recognizing DNA. Molecular
            bases of regulation by proto-oncogenic transcription factors
  JOURNAL   Cell 112 (2), 193-205 (2003)
   PUBMED   12553908
  REMARK    GeneRIF: X-ray structures of Myc-Max and Mad-Max recognizing DNA.
            Molecular bases of regulation by proto-oncogenic transcription
            factors.
REFERENCE   3  (bases 1 to 2010)
  AUTHORS   Lavigne,P., Crump,M.P., Gagne,S.M., Hodges,R.S., Kay,C.M. and
            Sykes,B.D.
  TITLE     Insights into the mechanism of heterodimerization from the 1H-NMR
            solution structure of the c-Myc-Max heterodimeric leucine zipper
  JOURNAL   J Mol Biol 281 (1), 165-181 (1998)
   PUBMED   9680483
REFERENCE   4  (bases 1 to 2010)
  AUTHORS   Grandori,C., Mac,J., Siebelt,F., Ayer,D.E. and Eisenman,R.N.
  TITLE     Myc-Max heterodimers activate a DEAD box gene and interact with
            multiple E box-related sites in vivo
  JOURNAL   EMBO J 15 (16), 4344-4357 (1996)
   PUBMED   8861962
REFERENCE   5  (bases 1 to 2010)
  AUTHORS   Else,T., Greenberg,S. and Fishbein,L.
  TITLE     Hereditary Paraganglioma-Pheochromocytoma Syndromes
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301715
REFERENCE   6  (bases 1 to 2010)
  AUTHORS   Wechsler,D.S. and Dang,C.V.
  TITLE     Opposite orientations of DNA bending by c-Myc and Max
  JOURNAL   Proc Natl Acad Sci U S A 89 (16), 7635-7639 (1992)
   PUBMED   1323849
REFERENCE   7  (bases 1 to 2010)
  AUTHORS   Gilladoga,A.D., Edelhoff,S., Blackwood,E.M., Eisenman,R.N. and
            Disteche,C.M.
  TITLE     Mapping of MAX to human chromosome 14 and mouse chromosome 12 by in
            situ hybridization
  JOURNAL   Oncogene 7 (6), 1249-1251 (1992)
   PUBMED   1594250
REFERENCE   8  (bases 1 to 2010)
  AUTHORS   Makela,T.P., Koskinen,P.J., Vastrik,I. and Alitalo,K.
  TITLE     Alternative forms of Max as enhancers or suppressors of Myc-ras
            cotransformation
  JOURNAL   Science 256 (5055), 373-377 (1992)
   PUBMED   1566084
REFERENCE   9  (bases 1 to 2010)
  AUTHORS   Wagner,A.J., Le Beau,M.M., Diaz,M.O. and Hay,N.
  TITLE     Expression, regulation, and chromosomal localization of the Max
            gene
  JOURNAL   Proc Natl Acad Sci U S A 89 (7), 3111-3115 (1992)
   PUBMED   1557420
REFERENCE   10 (bases 1 to 2010)
  AUTHORS   Blackwood,E.M. and Eisenman,R.N.
  TITLE     Max: a helix-loop-helix zipper protein that forms a
            sequence-specific DNA-binding complex with Myc
  JOURNAL   Science 251 (4998), 1211-1217 (1991)
   PUBMED   2006410
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL833643.1, BC004516.2 and
            BC025685.1.
            
            On May 17, 2019 this sequence version replaced NM_002382.4.
            
            Summary: The protein encoded by this gene is a member of the basic
            helix-loop-helix leucine zipper (bHLHZ) family of transcription
            factors. It is able to form homodimers and heterodimers with other
            family members, which include Mad, Mxi1 and Myc. Myc is an
            oncoprotein implicated in cell proliferation, differentiation and
            apoptosis. The homodimers and heterodimers compete for a common DNA
            target site (the E box) and rearrangement among these dimer forms
            provides a complex system of transcriptional regulation. Mutations
            of this gene have been reported to be associated with hereditary
            pheochromocytoma. A pseudogene of this gene is located on the long
            arm of chromosome 7. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Aug 2012].
            
            Transcript Variant: This variant (1) encodes the longest isoform
            (a) which is also known as the long form.
            
            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 :: SRR3476690.104760.1,
                                           SRR3476690.1114661.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA2142348
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358664.9/ ENSP00000351490.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-51                AL833643.1         4-54
            52-752              BC004516.2         5-705
            753-2010            BC025685.1         700-1957
FEATURES             Location/Qualifiers
     source          1..2010
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q23.3"
     gene            1..2010
                     /gene="MAX"
                     /gene_synonym="bHLHd4; PDMCS"
                     /note="MYC associated factor X"
                     /db_xref="GeneID:4149"
                     /db_xref="HGNC:HGNC:6913"
                     /db_xref="MIM:154950"
     exon            1..214
                     /gene="MAX"
                     /gene_synonym="bHLHd4; PDMCS"
                     /inference="alignment:Splign:2.1.0"
     CDS             179..661
                     /gene="MAX"
                     /gene_synonym="bHLHd4; PDMCS"
                     /note="isoform a is encoded by transcript variant 1; class
                     D basic helix-loop-helix protein 4"
                     /codon_start=1
                     /product="protein max isoform a"
                     /protein_id="NP_002373.3"
                     /db_xref="CCDS:CCDS9771.1"
                     /db_xref="GeneID:4149"
                     /db_xref="HGNC:HGNC:6913"
                     /db_xref="MIM:154950"
                     /translation="MSDNDDIEVESDEEQPRFQSAADKRAHHNALERKRRDHIKDSFH
                     SLRDSVPSLQGEKASRAQILDKATEYIQYMRRKNHTHQQDIDDLKRQNALLEQQVRAL
                     EKARSSAQLQTNYPSSDNSLYTNAKGSTISAFDGGSDSSSESEPEEPQSRKKLRMEAS
                     "
     exon            215..241
                     /gene="MAX"
                     /gene_synonym="bHLHd4; PDMCS"
                     /inference="alignment:Splign:2.1.0"
     exon            242..349
                     /gene="MAX"
                     /gene_synonym="bHLHd4; PDMCS"
                     /inference="alignment:Splign:2.1.0"
     exon            350..473
                     /gene="MAX"
                     /gene_synonym="bHLHd4; PDMCS"
                     /inference="alignment:Splign:2.1.0"
     exon            474..2010
                     /gene="MAX"
                     /gene_synonym="bHLHd4; PDMCS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1989..1994
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MAX"
                     /gene_synonym="bHLHd4; PDMCS"
                     /note="hexamer: AATAAA"
     polyA_site      2010
                     /gene="MAX"
                     /gene_synonym="bHLHd4; PDMCS"
                     /note="major polyA site"
ORIGIN      
        1 agtgaggagg tggttcttgc ccgtgttgtg tgtgtgtgtg agtgagagag cgagtgagtg
       61 agtgagtgag tgtgtgtgtg ggggggactc ggcttgttgt tgtcggtgac ttccccctcc
      121 ccttcacccc ttcccctccc cgccgccgct gcagtggccg ctccctgggc cgtaggaaat
      181 gagcgataac gatgacatcg aggtggagag cgacgaagag caaccgaggt ttcaatctgc
      241 ggctgacaaa cgggctcatc ataatgcact ggaacgaaaa cgtagggacc acatcaaaga
      301 cagctttcac agtttgcggg actcagtccc atcactccaa ggagagaagg catcccgggc
      361 ccaaatccta gacaaagcca cagaatatat ccagtatatg cgaaggaaaa accacacaca
      421 ccagcaagat attgacgacc tcaagcggca gaatgctctt ctggagcagc aagtccgtgc
      481 actggagaag gcgaggtcaa gtgcccaact gcagaccaac tacccctcct cagacaacag
      541 cctctacacc aacgccaagg gcagcaccat ctctgccttc gatgggggct cggactccag
      601 ctcggagtct gagcctgaag agccccaaag caggaagaag ctccggatgg aggccagcta
      661 agccactcgg ggcaggccag caataaaaac tgtctgtctc catcgtctca tcctcctttc
      721 agttcgttgg tagagccctc agaaccattt aagagactct ttatttttct ctttctccct
      781 ttttttttta aatttttatt tttacgtaga agctcttgga caacagctct cgttctcctt
      841 ccccatttcc actgtatatt ttttaatgta ttcccttcag ggattccctg tccccaacag
      901 gaatttttaa accaaaacac cccaacttgg cagctttttc tgtggaggac agacggccgg
      961 ccggacctct gagcacatag tgtcctgccc accctaccag ctcctccagc cctgccgggc
     1021 acatgcccgg gggacgcctg ccctgcccag gtggcctcct ggcccgccct cacctctgat
     1081 agactttgtg aatctgaact gctctacttt gagaagatga ccggtttgga gtaatcagaa
     1141 tgaaccctcc tcctttttaa gggttttttt tttttccttt ttctaaaaag ctatgtatcg
     1201 ctcctattga aagaccagat ccttagagaa gtttgtggta taaaaaggaa gtggggacag
     1261 attcgcagca cagagtcgct ggcatgtttc actcctgctt ctctcagcca gctgtttaag
     1321 cctgcggcgc cagcctcacg gagggccgtg tgacactctc gtggtatgta tgggagatgg
     1381 cagcagtgaa gcagcagcca ccagggagtg gccatttggg gttgggacag ggagggtgtt
     1441 ttgggtggca tagaggtttt gtattgaggg ccagtgatga tgttttgata tttatttcct
     1501 gctacttaaa tttgaatctg agtgaattgt acctatttct gatgatgtcg gtcttgcaaa
     1561 gcgacagatt cataaagtaa tgatgaaatc tttctttctt cccgtgtgta tttctaagaa
     1621 atagagccaa ctgattttgt atgtaaatac caagagcaat ttacctggta ctaaacccgc
     1681 accccagtgc ggacccttcc cagccctcat cccacttcct ttcctactgt cctggaacct
     1741 gtctccattg tgtgatccag ccctggttct ggctgtggtc agcagatgcc agtgaagggt
     1801 tttgtgtgtt taggcctcat ttctttgtct ttttcctact ccgttcctgg catttgctga
     1861 tttctagtgt atactctgta gtctcagttc gtgtttgatt ccattccatg gaaataaaaa
     1921 gtatgttgta catactgccg aagaattgtc ttgcaagtta aggcttcccc ctttactata
     1981 agactataaa taaaaactta ttttatcctt
//
