LOCUS       NM_006562               1770 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens ladybird homeobox 1 (LBX1), mRNA.
ACCESSION   NM_006562
VERSION     NM_006562.5
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 1770)
  AUTHORS   Kim,D.K., Weller,B., Lin,C.W., Sheykhkarimli,D., Knapp,J.J.,
            Dugied,G., Zanzoni,A., Pons,C., Tofaute,M.J., Maseko,S.B.,
            Spirohn,K., Laval,F., Lambourne,L., Kishore,N., Rayhan,A.,
            Sauer,M., Young,V., Halder,H., la Rosa,N.M., Pogoutse,O.,
            Strobel,A., Schwehn,P., Li,R., Rothballer,S.T., Altmann,M.,
            Cassonnet,P., Cote,A.G., Vergara,L.E., Hazelwood,I., Liu,B.B.,
            Nguyen,M., Pandiarajan,R., Dohai,B., Coloma,P.A.R., Poirson,J.,
            Giuliana,P., Willems,L., Taipale,M., Jacob,Y., Hao,T., Hill,D.E.,
            Brun,C., Twizere,J.C., Krappmann,D., Heinig,M., Falter,C., Aloy,P.,
            Demeret,C., Vidal,M., Calderwood,M.A., Roth,F.P. and
            Falter-Braun,P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   2  (bases 1 to 1770)
  AUTHORS   Wang,Y., Li,M., Chan,C.O., Yang,G., Lam,J.C., Law,B.C., Lam,T.P.,
            Hung,A.L., Cheng,J.C., Mok,D.K. and Lee,W.Y.
  TITLE     Biological effect of dysregulated LBX1 on adolescent idiopathic
            scoliosis through modulating muscle carbohydrate metabolism
  JOURNAL   Spine J 22 (9), 1551-1565 (2022)
   PUBMED   35460899
  REMARK    GeneRIF: Biological effect of dysregulated LBX1 on adolescent
            idiopathic scoliosis through modulating muscle carbohydrate
            metabolism.
REFERENCE   3  (bases 1 to 1770)
  AUTHORS   Janusz,P., Toklowicz,M., Andrusiewicz,M., Kotwicka,M. and
            Kotwicki,T.
  TITLE     Association of LBX1 Gene Methylation Level with Disease Severity in
            Patients with Idiopathic Scoliosis: Study on Deep Paravertebral
            Muscles
  JOURNAL   Genes (Basel) 13 (9), 1556 (2022)
   PUBMED   36140724
  REMARK    GeneRIF: Association of LBX1 Gene Methylation Level with Disease
            Severity in Patients with Idiopathic Scoliosis: Study on Deep
            Paravertebral Muscles.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1770)
  AUTHORS   Xu,L., Wu,Z., Sun,X., Liu,Z., Qiu,Y. and Zhu,Z.
  TITLE     LBX1 may play a role in the development of AIS via regulating the
            proliferation and differentiation of myosatellite cells
  JOURNAL   Stud Health Technol Inform 280, 252 (2021)
   PUBMED   34190099
  REMARK    GeneRIF: LBX1 may play a role in the development of AIS via
            regulating the proliferation and differentiation of myosatellite
            cells.
REFERENCE   5  (bases 1 to 1770)
  AUTHORS   Wang,Y., Feng,Z., Cheng,K.L., Zhang,J., Xu,L., Lam,T.P., Hung,A.,
            Cheng,J., Qiu,Y. and Lee,W.
  TITLE     Role of differentially expressed LBX1 in Adolescent Idiopathic
            Scoliosis (AIS) paraspinal muscle phenotypes and muscle-bone
            crosstalk through modulating myoblasts
  JOURNAL   Stud Health Technol Inform 280, 14-17 (2021)
   PUBMED   34190053
  REMARK    GeneRIF: Role of differentially expressed LBX1 in Adolescent
            Idiopathic Scoliosis (AIS) paraspinal muscle phenotypes and
            muscle-bone crosstalk through modulating myoblasts.
REFERENCE   6  (bases 1 to 1770)
  AUTHORS   Deloukas,P., Earthrowl,M.E., Grafham,D.V., Rubenfield,M.,
            French,L., Steward,C.A., Sims,S.K., Jones,M.C., Searle,S.,
            Scott,C., Howe,K., Hunt,S.E., Andrews,T.D., Gilbert,J.G.,
            Swarbreck,D., Ashurst,J.L., Taylor,A., Battles,J., Bird,C.P.,
            Ainscough,R., Almeida,J.P., Ashwell,R.I., Ambrose,K.D.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Bates,K.,
            Beasley,H., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.C.,
            Burrill,W., Burton,J., Cahill,P., Camire,D., Carter,N.P.,
            Chapman,J.C., Clark,S.Y., Clarke,G., Clee,C.M., Clegg,S., Corby,N.,
            Coulson,A., Dhami,P., Dutta,I., Dunn,M., Faulkner,L., Frankish,A.,
            Frankland,J.A., Garner,P., Garnett,J., Gribble,S., Griffiths,C.,
            Grocock,R., Gustafson,E., Hammond,S., Harley,J.L., Hart,E.,
            Heath,P.D., Ho,T.P., Hopkins,B., Horne,J., Howden,P.J., Huckle,E.,
            Hynds,C., Johnson,C., Johnson,D., Kana,A., Kay,M., Kimberley,A.M.,
            Kershaw,J.K., Kokkinaki,M., Laird,G.K., Lawlor,S., Lee,H.M.,
            Leongamornlert,D.A., Laird,G., Lloyd,C., Lloyd,D.M., Loveland,J.,
            Lovell,J., McLaren,S., McLay,K.E., McMurray,A.,
            Mashreghi-Mohammadi,M., Matthews,L., Milne,S., Nickerson,T.,
            Nguyen,M., Overton-Larty,E., Palmer,S.A., Pearce,A.V., Peck,A.I.,
            Pelan,S., Phillimore,B., Porter,K., Rice,C.M., Rogosin,A.,
            Ross,M.T., Sarafidou,T., Sehra,H.K., Shownkeen,R., Skuce,C.D.,
            Smith,M., Standring,L., Sycamore,N., Tester,J., Thorpe,A.,
            Torcasso,W., Tracey,A., Tromans,A., Tsolas,J., Wall,M., Walsh,J.,
            Wang,H., Weinstock,K., West,A.P., Willey,D.L., Whitehead,S.L.,
            Wilming,L., Wray,P.W., Young,L., Chen,Y., Lovering,R.C.,
            Moschonas,N.K., Siebert,R., Fechtel,K., Bentley,D., Durbin,R.,
            Hubbard,T., Doucette-Stamm,L., Beck,S., Smith,D.R. and Rogers,J.
  TITLE     The DNA sequence and comparative analysis of human chromosome 10
  JOURNAL   Nature 429 (6990), 375-381 (2004)
   PUBMED   15164054
REFERENCE   7  (bases 1 to 1770)
  AUTHORS   de Mollerat,X.J., Gurrieri,F., Morgan,C.T., Sangiorgi,E.,
            Everman,D.B., Gaspari,P., Amiel,J., Bamshad,M.J., Lyle,R.,
            Blouin,J.L., Allanson,J.E., Le Marec,B., Wilson,M., Braverman,N.E.,
            Radhakrishna,U., Delozier-Blanchet,C., Abbott,A., Elghouzzi,V.,
            Antonarakis,S., Stevenson,R.E., Munnich,A., Neri,G. and
            Schwartz,C.E.
  TITLE     A genomic rearrangement resulting in a tandem duplication is
            associated with split hand-split foot malformation 3 (SHFM3) at
            10q24
  JOURNAL   Hum Mol Genet 12 (16), 1959-1971 (2003)
   PUBMED   12913067
REFERENCE   8  (bases 1 to 1770)
  AUTHORS   Kozmik,Z., Holland,L.Z., Schubert,M., Lacalli,T.C., Kreslova,J.,
            Vlcek,C. and Holland,N.D.
  TITLE     Characterization of Amphioxus AmphiVent, an evolutionarily
            conserved marker for chordate ventral mesoderm
  JOURNAL   Genesis 29 (4), 172-179 (2001)
   PUBMED   11309850
REFERENCE   9  (bases 1 to 1770)
  AUTHORS   Jagla,K., Dolle,P., Mattei,M.G., Jagla,T., Schuhbaur,B.,
            Dretzen,G., Bellard,F. and Bellard,M.
  TITLE     Mouse Lbx1 and human LBX1 define a novel mammalian homeobox gene
            family related to the Drosophila lady bird genes
  JOURNAL   Mech Dev 53 (3), 345-356 (1995)
   PUBMED   8645601
REFERENCE   10 (bases 1 to 1770)
  AUTHORS   Moretti,P., Simmons,P., Thomas,P., Haylock,D., Rathjen,P., Vadas,M.
            and D'Andrea,R.
  TITLE     Identification of homeobox genes expressed in human haemopoietic
            progenitor cells
  JOURNAL   Gene 144 (2), 213-219 (1994)
   PUBMED   7518789
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL135794.19.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 30, 2020 this sequence version replaced NM_006562.4.
            
            Summary: This gene and the orthologous mouse gene were found by
            their homology to the Drosophila lady bird early and late homeobox
            genes. In the mouse, this gene is a key regulator of muscle
            precursor cell migration and is required for the acquisition of
            dorsal identities of forelimb muscles. [provided by RefSeq, Jul
            2008].
            
            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 :: BC136321.1, X90828.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2148874, SAMEA2154361
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370193.4/ ENSP00000359212.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-973               AL135794.19        83130-84102         c
            974-1770            AL135794.19        81633-82429         c
FEATURES             Location/Qualifiers
     source          1..1770
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.32"
     gene            1..1770
                     /gene="LBX1"
                     /gene_synonym="CCHS3; homeobox; HPX-6; HPX6; LBX1H"
                     /note="ladybird homeobox 1"
                     /db_xref="GeneID:10660"
                     /db_xref="HGNC:HGNC:16960"
                     /db_xref="MIM:604255"
     exon            1..973
                     /gene="LBX1"
                     /gene_synonym="CCHS3; homeobox; HPX-6; HPX6; LBX1H"
                     /inference="alignment:Splign:2.1.0"
     CDS             649..1494
                     /gene="LBX1"
                     /gene_synonym="CCHS3; homeobox; HPX-6; HPX6; LBX1H"
                     /note="lady bird-like homeobox; transcription factor
                     similar to D. melanogaster homeodomain protein lady bird
                     late; ladybird homeobox protein homolog 1; ladybird
                     homeobox homolog 1"
                     /codon_start=1
                     /product="transcription factor LBX1"
                     /protein_id="NP_006553.2"
                     /db_xref="CCDS:CCDS31270.1"
                     /db_xref="GeneID:10660"
                     /db_xref="HGNC:HGNC:16960"
                     /db_xref="MIM:604255"
                     /translation="MTSKEDGKAAPGEERRRSPLDHLPPPANSNKPLTPFSIEDILNK
                     PSVRRSYSLCGAAHLLAAADKHAQGGLPLAGRALLSQTSPLCALEELASKTFKGLEVS
                     VLQAAEGRDGMTIFGQRQTPKKRRKSRTAFTNHQIYELEKRFLYQKYLSPADRDQIAQ
                     QLGLTNAQVITWFQNRRAKLKRDLEEMKADVESAKKLGPSGQMDIVALAELEQNSEAT
                     AGGGGGCGRAKSRPGSPVLPPGAPKAPGAGALQLSPASPLTDQPASSQDCSEDEEDEE
                     IDVDD"
     exon            974..1770
                     /gene="LBX1"
                     /gene_synonym="CCHS3; homeobox; HPX-6; HPX6; LBX1H"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1753..1758
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LBX1"
                     /gene_synonym="CCHS3; homeobox; HPX-6; HPX6; LBX1H"
                     /note="hexamer: TATAAA"
     polyA_site      1770
                     /gene="LBX1"
                     /gene_synonym="CCHS3; homeobox; HPX-6; HPX6; LBX1H"
                     /note="major polyA site"
ORIGIN      
        1 gcattggaca gacagagagt gaaagagagg gcgagggaga gggagagaag gagagagaag
       61 gggggagcag agaagagaga agagagaggg agggagggag agcgagaaca ggaggagaga
      121 acagaggcaa agaagagagg aaaaagggag aaaggagaga gaaagagaaa gaagtgccgc
      181 tgcagataat tgattacacc gcgatcaagg ctaacttgtt agcaatagtc aattgccccg
      241 tctctccgcc tccctcgcag tccgggatcg gcgccctcgc ctcggctctt ccaactgcgg
      301 ccgccaggac ccggggccag gagccactgc cgagccacct gacaccttta aatagcaccg
      361 gggttggcga aactggagcc ccgcgcagcg cgccccggct ccggccccgg attgctggaa
      421 gccccagcag cagcggcgcc cgcgtcagcg ccctcttccc ggggccccgc gctgttctcc
      481 cctcctcagc cgccgcgcta atcggccccg cgcccggccc gcgccctgcc cagtgcggcc
      541 tcctttccac ccgccgctgc ctgcccgcgc cgtccggcgc ccgagctgcc cgcgggctgg
      601 gtccccgcgg cccgagccgc cccggccggg accccgaaca aggccgagat gacttccaag
      661 gaggacggca aggcggcgcc gggggaggag cggcggcgca gcccgctgga ccacctgcct
      721 ccgcctgcca actccaacaa gccactgacg ccgttcagca tcgaggacat cctcaacaag
      781 ccgtctgtgc ggagaagtta ctcgctgtgc ggggcggcgc acctgctggc cgccgcggac
      841 aagcacgcgc agggcggctt gcccctggcg ggccgcgcgc tgctctcgca gacctcgccg
      901 ctgtgcgcgc tggaggagct cgccagcaag acgtttaagg ggctggaggt cagcgttctg
      961 caggcagccg aaggccgcga cggtatgacc atctttgggc agcggcagac ccctaagaag
     1021 cggcgaaagt cgcgcacggc cttcaccaac caccagatct atgaattgga aaagcgcttt
     1081 ctataccaga agtacctgtc ccccgccgat cgcgaccaaa tcgcgcagca gctgggcctc
     1141 accaacgcgc aagtcatcac ctggttccag aatcggcgcg ctaagctcaa gcgggacctg
     1201 gaggagatga aggccgacgt agagtccgcc aagaaactgg gccccagcgg gcagatggac
     1261 atcgtggcgc tggccgaact cgagcagaac tcggaggcca cagccggcgg tggcggcggc
     1321 tgcggcaggg ccaagtcgag gcccggctct ccggtcctcc ccccaggcgc cccgaaggcc
     1381 ccgggcgctg gcgccctgca gctctcgcct gcctctccgc tcacggacca gccggccagc
     1441 agccaggact gctcggagga cgaggaagac gaagagatcg acgtggacga ttgagcggcg
     1501 ccccgggtct tccgccgccc tgggctccta gcgctcgaaa gcccaacgcc tcccggaccg
     1561 gaccgccgag gggagctggg acctcctctg ccaactcccg cctcctcccc tgtccccggc
     1621 cccggactcg gctcctggca gccgcctctt ccctctcgaa gcaataaacc caggctggcc
     1681 ggccgggccg gccgccacca gcggcctccg ccgccccgga agccctcgcc gtgcaattct
     1741 gtatggcttc tatataaata tttaaaccta
//
