LOCUS       NM_177398               3545 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens LIM homeobox transcription factor 1 alpha (LMX1A),
            transcript variant 1, mRNA.
ACCESSION   NM_177398
VERSION     NM_177398.4
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 3545)
  AUTHORS   Rifes,P., Kajtez,J., Christiansen,J.R., Schorling,A., Rathore,G.S.,
            Wolf,D.A., Heuer,A. and Kirkeby,A.
  TITLE     Forced LMX1A expression induces dorsal neural fates and disrupts
            patterning of human embryonic stem cells into ventral midbrain
            dopaminergic neurons
  JOURNAL   Stem Cell Reports 19 (6), 830-838 (2024)
   PUBMED   38759646
  REMARK    GeneRIF: Forced LMX1A expression induces dorsal neural fates and
            disrupts patterning of human embryonic stem cells into ventral
            midbrain dopaminergic neurons.
REFERENCE   2  (bases 1 to 3545)
  AUTHORS   Yu,Z., Che,N., He,Y. and Zhang,B.
  TITLE     ceRNA network of lncRNA MIR210HG/miR-377-3p/LMX1A in malignant
            proliferation of glioma cells
  JOURNAL   Genes Genomics 44 (12), 1445-1455 (2022)
   PUBMED   36197580
  REMARK    GeneRIF: ceRNA network of lncRNA MIR210HG/miR-377-3p/LMX1A in
            malignant proliferation of glioma cells.
REFERENCE   3  (bases 1 to 3545)
  AUTHORS   Lee,S.Y., Soon Yoo,H., Hee Han,J., Hee Lee,D., Soo Park,S., Hwan
            Suh,M., Ho Lee,J., Oh,S.H. and Choi,B.Y.
  TITLE     Novel Molecular Genetic Etiology of Asymmetric Hearing Loss:
            Autosomal-Dominant LMX1A Variants
  JOURNAL   Ear Hear 43 (6), 1698-1707 (2022)
   PUBMED   35711095
  REMARK    GeneRIF: Novel Molecular Genetic Etiology of Asymmetric Hearing
            Loss: Autosomal-Dominant LMX1A Variants.
REFERENCE   4  (bases 1 to 3545)
  AUTHORS   Ozieblo,D., Lee,S.Y., Leja,M.L., Sarosiak,A., Baldyga,N.,
            Skarzynski,H., Kim,Y., Han,J.H., Yoo,H.S., Park,M.H., Choi,B.Y. and
            Oldak,M.
  TITLE     Update on CD164 and LMX1A genes to strengthen their causative role
            in autosomal dominant hearing loss
  JOURNAL   Hum Genet 141 (3-4), 445-453 (2022)
   PUBMED   35254497
  REMARK    GeneRIF: Update on CD164 and LMX1A genes to strengthen their
            causative role in autosomal dominant hearing loss.
REFERENCE   5  (bases 1 to 3545)
  AUTHORS   Thameem,F., Wolford,J.K., Wang,J., German,M.S., Bogardus,C. and
            Prochazka,M.
  TITLE     Cloning, expression and genomic structure of human LMX1A, and
            variant screening in Pima Indians
  JOURNAL   Gene 290 (1-2), 217-225 (2002)
   PUBMED   12062816
  REMARK    GeneRIF: Did not find evidence for association of any LMX1A SNPs
            with type 2 diabetes mellitus (T2DM) and conclude that LMX1A does
            not contribute significantly to T2DM etiology in Pima Indians.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 3545)
  AUTHORS   Iannotti,C.A., Inoue,H., Bernal,E., Aoki,M., Liu,L.,
            Donis-Keller,H., German,M.S. and Permutt,M.A.
  TITLE     Identification of a human LMX1 (LMX1.1)-related gene, LMX1.2:
            tissue-specific expression and linkage mapping on chromosome 9
  JOURNAL   Genomics 46 (3), 520-524 (1997)
   PUBMED   9441763
REFERENCE   7  (bases 1 to 3545)
  AUTHORS   Jurata,L.W. and Gill,G.N.
  TITLE     Functional analysis of the nuclear LIM domain interactor NLI
  JOURNAL   Mol Cell Biol 17 (10), 5688-5698 (1997)
   PUBMED   9315627
REFERENCE   8  (bases 1 to 3545)
  AUTHORS   Fagerheim,T., Nilssen,O., Raeymaekers,P., Brox,V., Moum,T.,
            Elverland,H.H., Teig,E., Omland,H.H., Fostad,G.K. and
            Tranebjaerg,L.
  TITLE     Identification of a new locus for autosomal dominant non-syndromic
            hearing impairment (DFNA7) in a large Norwegian family
  JOURNAL   Hum Mol Genet 5 (8), 1187-1191 (1996)
   PUBMED   8842739
REFERENCE   9  (bases 1 to 3545)
  AUTHORS   German,M.S., Wang,J., Fernald,A.A., Espinosa,R. 3rd, Le Beau,M.M.
            and Bell,G.I.
  TITLE     Localization of the genes encoding two transcription factors, LMX1
            and CDX3, regulating insulin gene expression to human chromosomes 1
            and 13
  JOURNAL   Genomics 24 (2), 403-404 (1994)
   PUBMED   7698771
REFERENCE   10 (bases 1 to 3545)
  AUTHORS   German,M.S., Wang,J., Chadwick,R.B. and Rutter,W.J.
  TITLE     Synergistic activation of the insulin gene by a LIM-homeo domain
            protein and a basic helix-loop-helix protein: building a functional
            insulin minienhancer complex
  JOURNAL   Genes Dev 6 (11), 2165-2176 (1992)
   PUBMED   1358758
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK127724.1, AL160058.8, AL390730.12, AK122800.1 and BM678780.1.
            
            On Nov 23, 2018 this sequence version replaced NM_177398.3.
            
            Summary: This gene encodes a homeodomain and LIM-domain containing
            protein. The encoded protein is a transcription factor that acts as
            a positive regulator of insulin gene transcription. This gene also
            plays a role in the development of dopamine producing neurons
            during embryogenesis. Mutations in this gene are associated with an
            increased risk of developing Parkinson's disease. Alternate
            splicing results in multiple transcript variants. [provided by
            RefSeq, Feb 2012].
            
            Transcript Variant: This variant (1) represents the longer
            transcript. Both variants 1 and 4 encode the same protein.
            
            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 :: AK127724.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342310.7/ ENSP00000340226.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-211               AK127724.1         1-211
            212-212             AL160058.8         15171-15171         c
            213-1432            AK127724.1         213-1432
            1433-1433           AL390730.12        11526-11526         c
            1434-2609           AK127724.1         1434-2609
            2610-2610           AK122800.1         2421-2421
            2611-2974           AK127724.1         2610-2973
            2975-3545           BM678780.1         18-588              c
FEATURES             Location/Qualifiers
     source          1..3545
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q23.3"
     gene            1..3545
                     /gene="LMX1A"
                     /gene_synonym="DFNA7; LMX1; LMX1.1"
                     /note="LIM homeobox transcription factor 1 alpha"
                     /db_xref="GeneID:4009"
                     /db_xref="HGNC:HGNC:6653"
                     /db_xref="MIM:600298"
     exon            1..361
                     /gene="LMX1A"
                     /gene_synonym="DFNA7; LMX1; LMX1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            362..459
                     /gene="LMX1A"
                     /gene_synonym="DFNA7; LMX1; LMX1.1"
                     /inference="alignment:Splign:2.1.0"
     CDS             384..1532
                     /gene="LMX1A"
                     /gene_synonym="DFNA7; LMX1; LMX1.1"
                     /note="LIM/homeobox protein 1.1"
                     /codon_start=1
                     /product="LIM homeobox transcription factor 1-alpha"
                     /protein_id="NP_796372.1"
                     /db_xref="CCDS:CCDS1247.1"
                     /db_xref="GeneID:4009"
                     /db_xref="HGNC:HGNC:6653"
                     /db_xref="MIM:600298"
                     /translation="MLDGLKMEENFQSAIDTSASFSSLLGRAVSPKSVCEGCQRVILD
                     RFLLRLNDSFWHEQCVQCASCKEPLETTCFYRDKKLYCKYDYEKLFAVKCGGCFEAIA
                     PNEFVMRAQKSVYHLSCFCCCVCERQLQKGDEFVLKEGQLLCKGDYEKERELLSLVSP
                     AASDSGKSDDEESLCKSAHGAGKGTAEEGKDHKRPKRPRTILTTQQRRAFKASFEVSS
                     KPCRKVRETLAAETGLSVRVVQVWFQNQRAKMKKLARRQQQQQQDQQNTQRLSSAQTN
                     GGGSAGMEGIMNPYTALPTPQQLLAIEQSVYSSDPFRQGLTPPQMPGDHMHPYGAEPL
                     FHDLDSDDTSLSNLGDCFLATSEAGPLQSRVGNPIDHLYSMQNSYFTS"
     exon            460..646
                     /gene="LMX1A"
                     /gene_synonym="DFNA7; LMX1; LMX1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            647..879
                     /gene="LMX1A"
                     /gene_synonym="DFNA7; LMX1; LMX1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            880..1052
                     /gene="LMX1A"
                     /gene_synonym="DFNA7; LMX1; LMX1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1053..1130
                     /gene="LMX1A"
                     /gene_synonym="DFNA7; LMX1; LMX1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1131..1200
                     /gene="LMX1A"
                     /gene_synonym="DFNA7; LMX1; LMX1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1201..1371
                     /gene="LMX1A"
                     /gene_synonym="DFNA7; LMX1; LMX1.1"
                     /inference="alignment:Splign:2.1.0"
     exon            1372..3545
                     /gene="LMX1A"
                     /gene_synonym="DFNA7; LMX1; LMX1.1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3525..3530
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LMX1A"
                     /gene_synonym="DFNA7; LMX1; LMX1.1"
                     /note="hexamer: ATTAAA"
     polyA_site      3545
                     /gene="LMX1A"
                     /gene_synonym="DFNA7; LMX1; LMX1.1"
                     /note="major polyA site"
ORIGIN      
        1 agaagctgca ggatccgccc cggcgaagca gggccgactc gcacccagga ccctgggcct
       61 ctgccttccc tcctagcctt ggagaagcaa ctggccctct cctcccgctg aggagcgacg
      121 cgggctggta ggacgtcccg ggaaggccgg cagctcgcga ccacgtcccg gcccagcctg
      181 ggcgcgccga ggagcagagc cagcggccgg cgttcgctcc ggctccctcc ccggcgctcc
      241 gaagccgagg gcggctcctc cggctgcagt ctcgggggcg acgccttccc gggcagaagc
      301 ttccagcagc gctccgcaac ttctctctgc tccagtcact gggagagagc tcgcctacca
      361 ggtcctcccg gcccggcccg aacatgctgg acggcctaaa gatggaggag aacttccaaa
      421 gcgcgatcga cacctcggcc tccttctcct cgctgctggg cagagcggtg agccccaagt
      481 ctgtctgcga gggctgtcag cgggtcatct tggacaggtt tctgctgcgg ctcaacgaca
      541 gcttctggca tgagcagtgc gtgcagtgcg cctcctgcaa agagcccctg gagaccacct
      601 gcttctaccg ggacaagaag ctgtactgca agtatgacta cgagaagctg tttgctgtta
      661 aatgtggggg ctgcttcgag gccatcgctc ccaatgagtt tgttatgcgg gcccagaaga
      721 gtgtatacca cctgagctgc ttctgctgct gtgtctgcga gcgacagctt cagaagggtg
      781 atgagtttgt cctgaaggag gggcagctgc tctgcaaagg ggactatgag aaggagcggg
      841 agctgctcag cctggtgagc ccagcagcct cagactcagg taaaagtgat gatgaagaaa
      901 gtctctgcaa gtcagcccat ggggcaggga aaggaactgc tgaggaaggc aaggaccata
      961 agcgccccaa acgtccgaga accatcttga caactcaaca gaggcgagca ttcaaggcct
     1021 catttgaagt atcctccaag ccctgcagga aggtgagaga gactctggct gcagagacag
     1081 ggctgagtgt ccgtgtcgtc caggtgtggt tccaaaacca gagagcgaag atgaagaagc
     1141 tggccaggcg acagcagcag cagcagcaag atcagcagaa cacccagagg ctgagctctg
     1201 ctcagacaaa cggtggtggg agtgctggga tggaaggaat catgaacccc tacacggctc
     1261 tgcccacccc acagcagctc ctggccatcg agcagagtgt ctacagctca gatcccttcc
     1321 gacagggtct caccccaccc cagatgcctg gagaccacat gcacccttat ggtgccgagc
     1381 cccttttcca tgacctggat agcgacgaca cctccctcag taacctgggt gattgtttcc
     1441 tagcaacctc agaagctggg cctctgcagt ccagagtggg aaaccccatt gaccatctgt
     1501 actccatgca gaattcttac ttcacatctt gagtcttccc ctagagttct gtgactaggc
     1561 tcccatatgg aacaaccata ttctttgagg ggtcactggc tttaggacag ggaggccagg
     1621 gaagaggtgg gttggggagg gagttttgtt ggggatgctg ttgtataatg atatggtgta
     1681 gctcagcatt tccaaagact gaatacatta tggattgcat agtttaatgt ttctaataag
     1741 agtcttagca ttagatatga agacgtgttt atcattaagg acagagactt ttaatataga
     1801 cattctcatg caaactagat acttagggac tcctaacaac ttcccaccat gtcggggaag
     1861 ctcttgtcaa gaggtgcata tgtctatcca tctacacacc aatagacaga aggacagata
     1921 gatagatgtg tgtgtgtgag tgtgtaacct ttcgtatttt accctcaaag tttattccta
     1981 attataacag acaccaactg tacagcaaaa gtaactttat tttcagtgtg aactatattt
     2041 aaggaaatgc ttgatgcact taagttataa aatgagataa tttactttta taaactttat
     2101 ttttagcttg acaagacttg tcagcagggc agagagggct gctccaccta gccccatagc
     2161 tttgagtgct ggggttcatt ctgttttcag agtgtctttc agatctggaa agaaattctg
     2221 tgtggctgat ggtgttctct cttgcattct tgctctcttt ggggttgaat cactgggcag
     2281 gggtgggaca gaataatctc tgatcatgtt ctgagaaaat gtaaagccca gactcctggg
     2341 ctttctttta aattctgaca agtggttgtt gggcagtgct aggatgattg gttcagctct
     2401 tgagcttcag catctgcaaa tgtggatgag gctaatagta tgtacctacc tcactgggaa
     2461 acaccaaggc ttaattcatt cccaggacac atgagcaggg ctgagactaa tatctgatat
     2521 ttgtttaaga tacaaccagg ccactcactt ggcaaaggag ggtacatagg gttgcagagc
     2581 aggagggctc ctgaactcca gagggcagtt ctgcctgctg aagtccctct gcaaagcctg
     2641 tgctgaagga gacaccagct cagagcagtt cagagggatc ccagagtccc agagtgggga
     2701 ggaggtgaag gctgagggga tagaggaggg cctggtggtg ttctagagca gggttgggca
     2761 aactcctgct tgcgggcctg ctttctatgg cttgccagca aagaatggtt tttacttttt
     2821 ttttgaggtc attaaaaaaa aggagaagaa gaatatataa caggctgtct gtggcctgga
     2881 aagcctgaaa tatttgctat ctgtattgtc tggcccttac agaaaaagtt tggggcccct
     2941 tgttttagag ggtctgtttc taaagaacct catggcgctc atagaggcag aaggttccag
     3001 tggaaaccct tggctcttcc ttccaactca ctcctctgat cctcggcaca gaagacccag
     3061 cagccattgt acatggggac agttccacac cctggtctcc agttgcggtg ctaggatggt
     3121 attgttctgt gctaggaagt ctcctgggaa cccagaatga gttggtgggg aagacagcgg
     3181 gtcactgtgg acccatccag gaggggccag gataggcttg gcctcatttc tggggacatc
     3241 attggagact tgaacacaga gacacgtccc tatcactctg gcaaggccag agggaacatg
     3301 tccccttatg gtagagtcta tgttgtgtga tttttgtgct cttgtttata atttatgcaa
     3361 accaccaaga aacccaaacc agtctgatga gtgaaaatta tgcagatgct gtatggcccc
     3421 acaggtttct gtggtaaaga ccagttggag aatgtaggag atactatgtg agtgaaaatg
     3481 aatagagatc cttattccac tccttaatgg cataccaaga tgaaattaaa atctcttaca
     3541 aatga
//
