LOCUS       NM_001003681            4095 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens HMG-box containing 4 (HMGXB4), transcript variant 1,
            mRNA.
ACCESSION   NM_001003681
VERSION     NM_001003681.3
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 4095)
  AUTHORS   Frankel,B.M., Cachia,D., Patel,S.J. and Das,A.
  TITLE     Analysis of the P53N a Novel Protein Encoded on Chromosome
            22q12.1-12.3 in Glioblastomas and Ependymomas Specimens
  JOURNAL   J Mol Neurosci 71 (8), 1714-1722 (2021)
   PUBMED   33595778
  REMARK    GeneRIF: Analysis of the P(53N) a Novel Protein Encoded on
            Chromosome 22q12.1-12.3 in Glioblastomas and Ependymomas Specimens.
REFERENCE   2  (bases 1 to 4095)
  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 4095)
  AUTHORS   Salati,S., Zini,R., Nuzzo,S., Guglielmelli,P., Pennucci,V.,
            Prudente,Z., Ruberti,S., Rontauroli,S., Norfo,R., Bianchi,E.,
            Bogani,C., Rotunno,G., Fanelli,T., Mannarelli,C., Rosti,V.,
            Salmoiraghi,S., Pietra,D., Ferrari,S., Barosi,G., Rambaldi,A.,
            Cazzola,M., Bicciato,S., Tagliafico,E., Vannucchi,A.M. and
            Manfredini,R.
  CONSRTM   AGIMM (AIRC Gruppo Italiano Malattie Mieloproliferative)
            investigators
  TITLE     Integrative analysis of copy number and gene expression data
            suggests novel pathogenetic mechanisms in primary myelofibrosis
  JOURNAL   Int J Cancer 138 (7), 1657-1669 (2016)
   PUBMED   26547506
  REMARK    GeneRIF: These results highlight a previously un-reported role of
            HMGXB4 in the hematopoietic system and transcriptional imbalances
            of HMGXB4 could contribute to the aberrant expansion of the
            megakaryocytic lineage in primary myelofibrosis patients
REFERENCE   4  (bases 1 to 4095)
  AUTHORS   Flachsbart,F., Franke,A., Kleindorp,R., Caliebe,A., Blanche,H.,
            Schreiber,S. and Nebel,A.
  TITLE     Investigation of genetic susceptibility factors for human longevity
            - a targeted nonsynonymous SNP study
  JOURNAL   Mutat Res 694 (1-2), 13-19 (2010)
   PUBMED   20800603
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   5  (bases 1 to 4095)
  AUTHORS   Vermeulen,M., Eberl,H.C., Matarese,F., Marks,H., Denissov,S.,
            Butter,F., Lee,K.K., Olsen,J.V., Hyman,A.A., Stunnenberg,H.G. and
            Mann,M.
  TITLE     Quantitative interaction proteomics and genome-wide profiling of
            epigenetic histone marks and their readers
  JOURNAL   Cell 142 (6), 967-980 (2010)
   PUBMED   20850016
REFERENCE   6  (bases 1 to 4095)
  AUTHORS   Potash,J.B., Buervenich,S., Cox,N.J., Zandi,P.P., Akula,N.,
            Steele,J., Rathe,J.A., Avramopoulos,D., Detera-Wadleigh,S.D.,
            Gershon,E.S., DePaulo,J.R. Jr., Feinberg,A.P. and McMahon,F.J.
  CONSRTM   NIMH Genetics Initiative Bipolar Disorder Consortium
  TITLE     Gene-based SNP mapping of a psychotic bipolar affective disorder
            linkage region on 22q12.3: association with HMG2L1 and TOM1
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 147B (1), 59-67 (2008)
   PUBMED   17671966
  REMARK    GeneRIF: high-mobility group protein 2-like 1 and SNP mapping of a
            psychotic bipolar affective disorder linkage region on 22q12.3
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   7  (bases 1 to 4095)
  AUTHORS   Nery,F.C., Rui,E., Kuniyoshi,T.M. and Kobarg,J.
  TITLE     Evidence for the interaction of the regulatory protein Ki-1/57 with
            p53 and its interacting proteins
  JOURNAL   Biochem Biophys Res Commun 341 (3), 847-855 (2006)
   PUBMED   16455055
REFERENCE   8  (bases 1 to 4095)
  AUTHORS   Collins,J.E., Wright,C.L., Edwards,C.A., Davis,M.P., Grinham,J.A.,
            Cole,C.G., Goward,M.E., Aguado,B., Mallya,M., Mokrab,Y.,
            Huckle,E.J., Beare,D.M. and Dunham,I.
  TITLE     A genome annotation-driven approach to cloning the human ORFeome
  JOURNAL   Genome Biol 5 (10), R84 (2004)
   PUBMED   15461802
REFERENCE   9  (bases 1 to 4095)
  AUTHORS   Collins,J.E., Goward,M.E., Cole,C.G., Smink,L.J., Huckle,E.J.,
            Knowles,S., Bye,J.M., Beare,D.M. and Dunham,I.
  TITLE     Reevaluating human gene annotation: a second-generation analysis of
            chromosome 22
  JOURNAL   Genome Res 13 (1), 27-36 (2003)
   PUBMED   12529303
REFERENCE   10 (bases 1 to 4095)
  AUTHORS   Seroussi,E., Kedra,D., Kost-Alimova,M., Sandberg-Nordqvist,A.C.,
            Fransson,I., Jacobs,J.F., Fu,Y., Pan,H.Q., Roe,B.A., Imreh,S. and
            Dumanski,J.P.
  TITLE     TOM1 genes map to human chromosome 22q13.1 and mouse chromosome 8C1
            and encode proteins similar to the endosomal proteins HGS and STAM
  JOURNAL   Genomics 57 (3), 380-388 (1999)
   PUBMED   10329004
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DW452042.1, BC052624.1,
            BC040447.1 and AI471703.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001003681.2.
            
            Summary: High mobility group (HMG) proteins are nonhistone
            chromosomal proteins. See HMG2 (MIM 163906) for additional
            information on HMG proteins.[supplied by OMIM, Nov 2010].
            
            Transcript Variant: This variant (1) encodes the longer protein
            (isoform 1).
            
            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 :: SRR1803612.238083.1,
                                           SRR1803614.81990.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216106.6/ ENSP00000216106.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-5                 DW452042.1         59-63
            6-1305              BC052624.1         1-1300
            1306-4039           BC040447.1         141-2874
            4040-4095           AI471703.1         14-69               c
FEATURES             Location/Qualifiers
     source          1..4095
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     gene            1..4095
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="HMG-box containing 4"
                     /db_xref="GeneID:10042"
                     /db_xref="HGNC:HGNC:5003"
                     /db_xref="MIM:604702"
     exon            1..65
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /inference="alignment:Splign:2.1.0"
     exon            66..164
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /inference="alignment:Splign:2.1.0"
     CDS             134..1939
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="isoform 1 is encoded by transcript variant 1; HMG
                     domain-containing protein 4; HMG box-containing protein 4;
                     high mobility group protein 2-like 1; HMG box domain
                     containing 4"
                     /codon_start=1
                     /product="HMG domain-containing protein 4 isoform 1"
                     /protein_id="NP_001003681.1"
                     /db_xref="CCDS:CCDS33641.1"
                     /db_xref="GeneID:10042"
                     /db_xref="HGNC:HGNC:5003"
                     /db_xref="MIM:604702"
                     /translation="MAYDDSVKKEDCFDGDHTFEDIGLAAGRSQREKKRSYKDFLREE
                     EEIAAQVRNSSKKKLKDSELYFLGTDTHKKKRKHSSDDYYYGDISSLESSQKKKKKSS
                     PQSTDTAMDLLKAITSPLAAGSKPSKKTGEKSSGSSSHSESKKEHHRKKVSGSSGELP
                     LEDGGSHKSKKMKPLYVNTETLTLREPDGLKMKLILSPKEKGSSSVDEESFQYPSQQA
                     TVKKSSKKSARDEQGALLLGHELQSFLKTARKKHKSSSDAHSSPGPEGCGSDASQFAE
                     SHSANLDLSGLEPILVESDSSSGGELEAGELVIDDSYREIKKKKKSKKSKKKKDKEKH
                     KEKRHSKSKRSLGLSAVPVGEVTVTSGPPPSIPYAGAAAPPLPLPGLHTDGHSEKKKK
                     KEEKDKERERGEKPKKKNMSAYQVFCKEYRVTIVADHPGIDFGELSKKLAEVWKQLPE
                     KDKLIWKQKAQYLQHKQNKAEATTVKRKASSSEGSMKVKASSVGVLSPQKKSPPTTML
                     LPASPAKAPETEPIDVAAHLQLLGESLSLIGHRLQETEGMVAVSGSLSVLLDSIICAL
                     GPLACLTTQLPELNGCPKQVLSNTLDNIAYIMPGL"
     exon            165..313
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /inference="alignment:Splign:2.1.0"
     exon            314..392
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /inference="alignment:Splign:2.1.0"
     exon            393..1348
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /inference="alignment:Splign:2.1.0"
     exon            1349..1430
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /inference="alignment:Splign:2.1.0"
     exon            1431..1495
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /inference="alignment:Splign:2.1.0"
     exon            1496..1601
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /inference="alignment:Splign:2.1.0"
     exon            1602..1771
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /inference="alignment:Splign:2.1.0"
     exon            1772..1894
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /inference="alignment:Splign:2.1.0"
     exon            1895..4095
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4068..4073
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="hexamer: ATTAAA"
     polyA_site      4095
                     /gene="HMGXB4"
                     /gene_synonym="HMG2L1; HMGBCG; P53N; THC211630"
                     /note="major polyA site"
ORIGIN      
        1 ctctccttct ccaagatggc ggcgatcggc ggcgttgagg cgggatccgg gcgagccgag
       61 tgaagacctg gtcctgtaga cgggaaggag cctggacaca gtgacacatt ctcaaaggcc
      121 ctgcaggacc accatggctt atgatgactc cgtgaagaaa gaagattgtt ttgatggtga
      181 tcataccttt gaggacatag gacttgcagc tggccgaagc caacgagaga aaaaacgttc
      241 ttacaaagat tttttaaggg aagaggaaga aattgctgct caggtcagga attcttccaa
      301 gaagaagttg aaggatagtg aactttactt cttggggacg gacacacaca agaagaagag
      361 gaagcactcc tctgatgatt actactatgg agatatttcg tctttggaat cgtcacagaa
      421 gaaaaagaaa aagtccagcc cacagtctac tgatacagct atggacctgt tgaaagctat
      481 cacttcccca ctggcagcag gctccaagcc ctccaaaaag actggggaga aatcctctgg
      541 ctcttcaagc cattcggaga gtaaaaagga gcaccacagg aagaaagtca gtggaagcag
      601 tggggaacta cccctagagg atggtggctc ccacaaatcg aaaaaaatga aacctctcta
      661 tgtgaacaca gagacactga cccttcggga gcctgatggt ttaaaaatga aacttattct
      721 gtcaccaaag gagaagggaa gcagctctgt tgatgaggag tcttttcaat atccctccca
      781 acaagcgact gtgaaaaaat cctcaaagaa atcagctcgg gatgagcagg gtgctttact
      841 cctaggacat gagttacaga gctttctgaa aacagcccgg aaaaagcaca agtcatcctc
      901 agacgcacat tcatctcctg gccctgaagg ctgtgggtct gacgcctccc agttcgcaga
      961 gtcccacagt gctaaccttg atctttcagg gcttgaacct attctggtag aatcagactc
     1021 atcctctggt ggggaactag aggctgggga gttagtgata gatgattctt accgagaaat
     1081 caagaagaaa aagaagtcaa agaagagcaa aaagaagaaa gacaaggaga agcataaaga
     1141 gaagcgacac tccaagtcca agagaagttt aggactttct gccgtgccag tgggagaggt
     1201 cacagtgaca tctggccctc ctcccagcat cccatacgct ggagcagcag cacctcccct
     1261 gccacttcct ggcctccaca cagatgggca tagtgaaaaa aaaaagaaaa aagaagagaa
     1321 ggacaaagag agagagagag gagaaaagcc aaaaaagaag aacatgtcgg cctaccaggt
     1381 gttctgtaaa gagtatcgcg tgaccattgt ggctgaccat ccaggtatag attttgggga
     1441 acttagtaaa aaactggctg aggtgtggaa gcaattacca gaaaaagaca aactgatttg
     1501 gaagcaaaaa gctcagtatc tgcagcacaa acagaacaaa gcagaagcca caactgtgaa
     1561 aaggaaagca tccagctcag aaggttccat gaaagtcaaa gcctcttctg taggagtact
     1621 gtcaccccag aagaagtccc cacccaccac catgctgtta ccagcctcac cagccaaagc
     1681 ccctgagaca gagcccattg atgttgctgc tcatcttcag ctgttgggag agtccctaag
     1741 cctcattgga caccgtctgc aggaaactga gggtatggtg gctgtgtctg gcagtttgtc
     1801 agtgcttctg gattccatta tctgtgccct tggccccttg gcatgtctca ccacacaact
     1861 acctgaattg aatggctgtc ccaaacaggt cttgtcaaac acattagaca acattgctta
     1921 catcatgccg ggactgtgac agcaaagaat cctgggacag aaaccttatc ctacaccatt
     1981 gctggtttgt gtatatatga ctgttgcaga ttccttcagt ggcctctggc tgtaggtttt
     2041 aaatttttat atctatacat acatatatac atatatatat aatgtacaat atatacatag
     2101 actgtaacta ctttgctttt aataatttta tgaaatggca aaggtttagc caagaggaaa
     2161 ttttggcatg aatacaggct tgggattctt ttttctcctg tggtggataa atctgcctta
     2221 aaaatcaatg taacttgggg gctgggggct tgttctgggt gccaagcgca tctctttatg
     2281 gacagctaaa atgtgattat tttccaagct cagttggacc tccagaccca tcactgacca
     2341 tttgccttac ctgtcttagt ctgaaatgta ataggaaaga taacgggaag atgccagttg
     2401 actgaaaatt caaagccttt caatttgaag tgacctaggt gggaggtgat aaaatttgtt
     2461 ccctttatag ttatggaagt ggcttaggtg aattgagtag agggttcatt ccaattccta
     2521 ctgtataggt gtctgtgtct caaaatttat tgtaatcatt ggtaccattg gtggcctcaa
     2581 cagaggccaa ggagttctgt gagccctggc agcaaaaaac accttggggg gtgaagctgt
     2641 caatgccacc agttggacct ccatacattc tgagctaacc cagaatcttt agtcggcaga
     2701 attaagtgct ggtgtctttc actggcagca tgaagttagc caccaagtcc tcacaagccg
     2761 tgctgcttag ttgctcggtg gttatggata aactttgccc agcatgattt ttgggttcat
     2821 cttatcagtt cccctggtgg gcagatacac agtgttctgc attccacatg taagtgaatt
     2881 gcaaaaacaa aacaaaactc actctcttgt aggtttattt atgtgtgtgt gaatgtgtat
     2941 tttaattatg tgtatttaac tctttaaaat ctcttagatt ttaatttatc ctgtaaattt
     3001 ctgtatatat aatttaataa cagaagcctc caccagcaac agcatgtgga agatacagat
     3061 ttgtcatttc tcccttccgc cctcccttct ttccttcctt ccttccctgt ttccttccct
     3121 ctttccttcc ttcctcctgg tctgttccaa aaactctgaa tcatctacat tttaaggtat
     3181 tttacctcaa aaatgaatca ttgtgttagg attctaattc tttataaaga acttcatggg
     3241 cttcaataat gtctagaaag taaaataaag aggaatgtta ccatccccag ctgcccttat
     3301 ttccagagaa ccagacgttt gtttcccagt tggaaagaag acagttgagc acttcaggat
     3361 ggtttttaaa tttggtatga gattctctgc caacaccaag ctctgagtta actgtgcttt
     3421 cttctcctgg ccctgacaga gcactacagc atcaaagtaa atctttgggg acagtgtagc
     3481 ccatctgcat cctatttaat ttcttccctt ctccccacca gtgttgtcac agggctatgt
     3541 tgcttaaagg tagtctggct gctgaatccc tttctcagct cagagcagtt ttaagattta
     3601 attgggaata cagagaaaca ggattgtttg agaaccaaaa tcaagaggaa cagaaatctt
     3661 aacttgattt catgtgttag aacattgtac catgcctctt ctgtatctgt ggaagtttcc
     3721 tgtttgacac agggtatcta ggaggggcgg ggaagacatg gatagtatag gaagacatta
     3781 atcctagcat tgtcatttat atacattaat gaaatcctga tgaggacctg ctttttgttt
     3841 gttttccttt gaaacccagc cctattgtat ttgtatttaa aatttgtaca catttgtata
     3901 ataatctgta ccttgtggta tttggtacta ttagaggaaa aactttggat tcagaccttc
     3961 ttgcagtttt tatatcattg ttttattttg ttttttaaat aaattctagt ggtttgatcc
     4021 aaatcccatt acagttgtat aaagaaataa aattttgtac ttatattatt aaaaatcaca
     4081 tttttaatat ttgta
//
