LOCUS       NM_001174147            6312 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens LIM homeobox transcription factor 1 beta (LMX1B),
            transcript variant 2, mRNA.
ACCESSION   NM_001174147
VERSION     NM_001174147.2
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 6312)
  AUTHORS   Chen,C., Kong,D., Wang,P., Li,M. and Gui,R.
  TITLE     Genetic polymorphisms of LMX1B and MLXIP are associated with hip
            osteoarthritis in the Chinese population
  JOURNAL   Biomark Med 18 (15-16), 695-702 (2024)
   PUBMED   39263770
  REMARK    GeneRIF: Genetic polymorphisms of LMX1B and MLXIP are associated
            with hip osteoarthritis in the Chinese population.
REFERENCE   2  (bases 1 to 6312)
  AUTHORS   Francis,D., Lall,P., Ayres,S., Van Bergen,N.J., Christodoulou,J.,
            Brown,N.J. and Kalitsis,P.
  TITLE     De novo enhancer deletion of LMX1B produces a mild nail-patella
            clinical phenotype
  JOURNAL   Clin Genet 105 (2), 214-219 (2024)
   PUBMED   37899549
  REMARK    GeneRIF: De novo enhancer deletion of LMX1B produces a mild
            nail-patella clinical phenotype.
REFERENCE   3  (bases 1 to 6312)
  AUTHORS   Jimenez-Moreno,N., Kollareddy,M., Stathakos,P., Moss,J.J.,
            Anton,Z., Shoemark,D.K., Sessions,R.B., Witzgall,R., Caldwell,M.
            and Lane,J.D.
  TITLE     ATG8-dependent LMX1B-autophagy crosstalk shapes human midbrain
            dopaminergic neuronal resilience
  JOURNAL   J Cell Biol 222 (5) (2023)
   PUBMED   37014324
  REMARK    GeneRIF: ATG8-dependent LMX1B-autophagy crosstalk shapes human
            midbrain dopaminergic neuronal resilience.
REFERENCE   4  (bases 1 to 6312)
  AUTHORS   Mu,Y., Wang,L., Fu,L. and Li,Q.
  TITLE     Knockdown of LMX1B Suppressed Cell Apoptosis and Inflammatory
            Response in IL-1beta-Induced Human Osteoarthritis Chondrocytes
            through NF-kappaB and NLRP3 Signal Pathway
  JOURNAL   Mediators Inflamm 2022, 1870579 (2022)
   PUBMED   36133743
  REMARK    GeneRIF: Knockdown of LMX1B Suppressed Cell Apoptosis and
            Inflammatory Response in IL-1beta-Induced Human Osteoarthritis
            Chondrocytes through NF-kappaB and NLRP3 Signal Pathway.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 6312)
  AUTHORS   Dunston,J.A., Hamlington,J.D., Zaveri,J., Sweeney,E., Sibbring,J.,
            Tran,C., Malbroux,M., O'Neill,J.P., Mountford,R. and McIntosh,I.
  TITLE     The human LMX1B gene: transcription unit, promoter, and pathogenic
            mutations
  JOURNAL   Genomics 84 (3), 565-576 (2004)
   PUBMED   15498463
REFERENCE   6  (bases 1 to 6312)
  AUTHORS   Chen,H., Lun,Y., Ovchinnikov,D., Kokubo,H., Oberg,K.C.,
            Pepicelli,C.V., Gan,L., Lee,B. and Johnson,R.L.
  TITLE     Limb and kidney defects in Lmx1b mutant mice suggest an involvement
            of LMX1B in human nail patella syndrome
  JOURNAL   Nat Genet 19 (1), 51-55 (1998)
   PUBMED   9590288
REFERENCE   7  (bases 1 to 6312)
  AUTHORS   Dreyer,S.D., Zhou,G., Baldini,A., Winterpacht,A., Zabel,B.,
            Cole,W., Johnson,R.L. and Lee,B.
  TITLE     Mutations in LMX1B cause abnormal skeletal patterning and renal
            dysplasia in nail patella syndrome
  JOURNAL   Nat Genet 19 (1), 47-50 (1998)
   PUBMED   9590287
REFERENCE   8  (bases 1 to 6312)
  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   9  (bases 1 to 6312)
  AUTHORS   Johnson,J.D., Zhang,W., Rudnick,A., Rutter,W.J. and German,M.S.
  TITLE     Transcriptional synergy between LIM-homeodomain proteins and basic
            helix-loop-helix proteins: the LIM2 domain determines specificity
  JOURNAL   Mol Cell Biol 17 (7), 3488-3496 (1997)
   PUBMED   9199284
REFERENCE   10 (bases 1 to 6312)
  AUTHORS   Sweeney,E., Hoover-Fong,J.E. and McIntosh,I.
  TITLE     Nail-Patella Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301311
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL161908.13, BC113491.1,
            BC069588.1, AL161731.20 and EL952935.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 21, 2019 this sequence version replaced NM_001174147.1.
            
            Summary: This gene encodes a member of LIM-homeodomain family of
            proteins containing two N-terminal zinc-binding LIM domains, 1
            homeodomain, and a C-terminal glutamine-rich domain. It functions
            as a transcription factor, and is essential for the normal
            development of dorsal limb structures, the glomerular basement
            membrane, the anterior segment of the eye, and dopaminergic and
            serotonergic neurons. Mutations in this gene are associated with
            nail-patella syndrome. Alternatively spliced transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (2) uses an alternate donor splice
            site at the penultimate coding exon compared to variant 1,
            resulting in a longer isoform (2) containing an additional 7 aa
            protein segment compared to isoform 1.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR14038191.3310587.1,
                                           SRR14038194.804166.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968832, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000373474.9/ ENSP00000362573.3
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-541               AL161908.13        63937-64477
            542-1552            BC113491.1         1-1011
            1553-1731           BC069588.1         957-1135
            1732-1829           BC113491.1         1170-1267
            1830-5929           AL161731.20        40443-44542
            5930-6312           EL952935.1         44-426
FEATURES             Location/Qualifiers
     source          1..6312
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q33.3"
     gene            1..6312
                     /gene="LMX1B"
                     /gene_synonym="FSGS10; LMX1.2; NPS1"
                     /note="LIM homeobox transcription factor 1 beta"
                     /db_xref="GeneID:4010"
                     /db_xref="HGNC:HGNC:6654"
                     /db_xref="MIM:602575"
     exon            1..661
                     /gene="LMX1B"
                     /gene_synonym="FSGS10; LMX1.2; NPS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             523..1731
                     /gene="LMX1B"
                     /gene_synonym="FSGS10; LMX1.2; NPS1"
                     /note="isoform 2 is encoded by transcript variant 2;
                     LMX-1.2; LIM/homeobox protein 1.2"
                     /codon_start=1
                     /product="LIM homeobox transcription factor 1-beta isoform
                     2"
                     /protein_id="NP_001167618.1"
                     /db_xref="CCDS:CCDS55342.1"
                     /db_xref="GeneID:4010"
                     /db_xref="HGNC:HGNC:6654"
                     /db_xref="MIM:602575"
                     /translation="MDIATGPESLERCFPRGQTDCAKMLDGIKMEEHALRPGPATLGV
                     LLGSDCPHPAVCEGCQRPISDRFLMRVNESSWHEECLQCAACQQALTTSCYFRDRKLY
                     CKQDYQQLFAAKCSGCMEKIAPTEFVMRALECVYHLGCFCCCVCERQLRKGDEFVLKE
                     GQLLCKGDYEKEKDLLSSVSPDESDSVKSEDEDGDMKPAKGQGSQSKGSGDDGKDPRR
                     PKRPRTILTTQQRRAFKASFEVSSKPCRKVRETLAAETGLSVRVVQVWFQNQRAKMKK
                     LARRHQQQQEQQNSQRLGQEVLSSRMEGMMASYTPLAPPQQQIVAMEQSPYGSSDPFQ
                     QGLTPPQMPGDHMNPYGNDSIFHDIDSDTSLTSLSDCFLGSSDVGSLQARVGNPIDRL
                     YSMQSSYFAS"
     exon            662..848
                     /gene="LMX1B"
                     /gene_synonym="FSGS10; LMX1.2; NPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            849..1081
                     /gene="LMX1B"
                     /gene_synonym="FSGS10; LMX1.2; NPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1082..1263
                     /gene="LMX1B"
                     /gene_synonym="FSGS10; LMX1.2; NPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1264..1341
                     /gene="LMX1B"
                     /gene_synonym="FSGS10; LMX1.2; NPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1342..1408
                     /gene="LMX1B"
                     /gene_synonym="FSGS10; LMX1.2; NPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..1573
                     /gene="LMX1B"
                     /gene_synonym="FSGS10; LMX1.2; NPS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..6312
                     /gene="LMX1B"
                     /gene_synonym="FSGS10; LMX1.2; NPS1"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      2077
                     /gene="LMX1B"
                     /gene_synonym="FSGS10; LMX1.2; NPS1"
     regulatory      6292..6297
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LMX1B"
                     /gene_synonym="FSGS10; LMX1.2; NPS1"
                     /note="hexamer: AATAAA"
     polyA_site      6312
                     /gene="LMX1B"
                     /gene_synonym="FSGS10; LMX1.2; NPS1"
                     /note="major polyA site"
ORIGIN      
        1 agccccagct ctaaacccgg cggctcagcg ggcgcaccat ggcactggag tagcgcgggg
       61 agcgcgcccg gagccccgcg gcccgctgcg ccccgcccgg gaccccgctg cgccgcgcgc
      121 cccccccgcg gcccgcgggg ccgcccctgc acccccaccc cctcccccgc ctgccgccgc
      181 cgccaccgcc accgccgccg ccgcctcctc cccgcggctc cgtctgcagc agccgccgcc
      241 gccgggttcc gggactgaca agcaggtgac agaggagccg gcgcgcgtgg ctgcaagtgt
      301 ccgggagagc gcggcgcggg ctgcagccgc cccggcccgc ccgcacgacg ccggggcccg
      361 gggccagcgc gtcgccgctc cacgatcgcc gggggccggc gcaacccctg ccctgcgggg
      421 gccgcgcctc cccggttcca gggccgcggc ggcggagagc gggtggacgg gccggcgggc
      481 gagcagcccg gccggcgggg tccgcagcgc gccccgcgtc ccatggatat agcaacaggt
      541 cccgagtcgc tggagaggtg cttccctcgc gggcagacgg actgcgccaa gatgttggac
      601 ggcatcaaga tggaggagca cgccctgcgc cccgggcccg ccactctggg ggtgctgctg
      661 ggctccgact gcccgcatcc cgccgtctgc gagggctgcc agcggcccat ctccgaccgc
      721 ttcctgatgc gagtcaacga gtcgtcctgg cacgaggagt gtttgcagtg cgcggcgtgt
      781 cagcaagccc tcaccaccag ctgctacttc cgggatcgga aactgtactg caaacaagac
      841 taccaacagc tcttcgcggc caagtgcagc ggctgcatgg agaagatcgc ccccaccgag
      901 ttcgtgatgc gggcgctgga gtgcgtgtac cacctgggct gcttctgctg ctgcgtgtgt
      961 gaacggcagc tacgcaaggg cgacgaattc gtgctcaagg agggccagct gctgtgcaag
     1021 ggtgactacg agaaggagaa ggacctgctc agctccgtga gccccgacga gtccgactcc
     1081 gtgaagagcg aggatgaaga tggggacatg aagccggcca aggggcaggg cagtcagagc
     1141 aagggcagcg gggatgacgg gaaggacccg cggaggccca agcgaccccg gaccatcctc
     1201 accacgcagc agcgaagagc cttcaaggcc tccttcgagg tctcgtcgaa gccttgccga
     1261 aaggtccgag agacactggc agctgagacg ggcctcagtg tgcgcgtggt ccaggtctgg
     1321 tttcagaacc aaagagcaaa gatgaagaag ctggcgcggc ggcaccagca gcagcaggag
     1381 cagcagaact cccagcggct gggccaggag gtcctgtcca gccgcatgga gggcatgatg
     1441 gcttcctaca cgccgctggc cccaccacag cagcagatcg tggccatgga acagagcccc
     1501 tacggcagca gcgacccctt ccagcagggc ctcacgccgc cccaaatgcc aggtgaccac
     1561 atgaacccct atgggaacga ctccatcttc catgacatcg acagcgatac ctccttaacc
     1621 agcctcagcg actgcttcct cggctcctca gacgtgggct ccctgcaggc ccgcgtgggg
     1681 aaccccatcg accggctcta ctccatgcag agttcctact tcgcctcctg agagccagcc
     1741 aggcgcacgg acgcttgggc aggggcctgg gggggactgc cagcctctgc ggccagcctg
     1801 gccacccccg ccctgctctc cgcacagact acagacagcc atacggtgcc ctcccctcgg
     1861 ccagctgggc ctgaccactg tgcccgttgg gtacagccag accggtagat gggcacagcc
     1921 tgggcagggg ctgtgtcctg cccacagaga ccttgtcatc cccagggacc cagagctctc
     1981 ggacggccac tcgcctccca gccccacctc ggcctccatc gcctcctccc catctctttt
     2041 ttgggaagct taaattctct ctattttttt aaatgtcctc tctgtgtcca tggccctcca
     2101 tgcaagcccc aggacaatgg tgtcatgagg cggtgacctg agaagcgtgt gtacctgtgc
     2161 cccagcaagg gcaggggtgg cctctggggg caggcccact gcctggaacc gcacacccct
     2221 cagcctgagt ctggagcagc agtggagagg ggcctgaggg gaggcactgt caggaggcgg
     2281 gctcggagcc tgagcctggg caggcgcaaa gggacagaga ggcacgtgca gacacatgca
     2341 cacttgcaga caaacccacg caaacacaca cacagctgta tggggacacc agaagggaca
     2401 gggatgctca gcgggtctgt cctgccttgt cagaaagaga aaaggaggcc aggcagggga
     2461 ccccccagtt cttaagagcg attggaaagg gaggaagggg agaggaagag gcgaacttga
     2521 agcatcggac ccagttgtat cccagcctgg gcccaaatgg gggcagcctg ggcagggagg
     2581 gcagccccag gccccaccaa ctctagaggc agatggagcc cccagaacca ggtagcatca
     2641 gaccagacaa cagagcctcc aggggtcagg gacttcagaa gcacctgctg ggcaccccat
     2701 ctgcaatgtg gtcctctccc cagccacctc tgcctcccct cacatacctc cagtgacaag
     2761 gagctcacta ggtcagcgag cccacagcag ctgtgctgtc ctgcatccca gagccaggct
     2821 tccccagctc tccctcttaa cactgtcccc cagcaggcct ccggctgtcc ctctaaaggt
     2881 gtggggcagg tatcacttca ccttcccact gatgtcagcc ggccagaagt gagcaggcac
     2941 atcacctctc ctgctgtggc acccttcctc tgttaatttg gcccaaaaga caatgatttg
     3001 gccacatgac cttagagatt caccctgccc tgctgtagct aaatccctgg gccccacacg
     3061 caagtgacag ctaagccaca tctgttttct gtgtatatgc aggatggggg cacctactgt
     3121 tttgttttgt tttgttttgt tttgttttgt tttgttttgt tttgttttgt ttgagacgga
     3181 gtttcgctct tgttgcccag gctggagtgc aatggcgcga tctcggctca ccacaacctc
     3241 cgcctcccag gttcaagtga ttctgatgcc tcagcctccc tagtagctga gattacaggc
     3301 atgcgccacc acacccagct aattttgtat ttttagtagc aacggggttt ctccatgttg
     3361 gtcaggctgg tctccaaccc ccgacctcag gtgatccgcc tgcctcggcc tcccaaagtg
     3421 ctgggattac aggcgtgagc caccgcaccc agtctgcact tactgtttag actgaatgag
     3481 ggaccgtgac ctctttcctt ttccattcct tcttactcga ttcattccag cctgtggaat
     3541 ttctctgcac cctgattcag tgaccactgc tctcctctct cccagcacat ctgcccagtg
     3601 aggagttggc cctgggtctc acctgaggtg tgtggaccgg gctggcctct ccctgtttga
     3661 cattggccca ttaatgcatc ctctttgggg gacacattcc aattgcattt cctgccccct
     3721 tctcccaggg caattgcaga agattgtgtc aggcgccctg ctggaagtca ggtgcactag
     3781 atccatcccc agccccagtc tgctcaactc tatccctgtc agagcaagga ggctgggctg
     3841 ctggggcctg actggtgagc ccaccctgtc ccctggtgat cactgtgtcc ccttgttcag
     3901 gtgctcacaa ccctaccttt aactctgagg tcaagcccta ggccaccacc ctaaagtctg
     3961 cctggtccaa cctttgagca agtaaggata atgaatgtcc cttttccacc tttggggccc
     4021 tctgcctgga tctctggaat cctctaagtt caacctgttc tgtggttttg ctcccgtttg
     4081 ctgggaaatt cagtcccccc agaatgtcct gggccaacct ccttgcctga catgtggcct
     4141 cgtgtcaccc attgggcccc agcagccagc tagcccttct gcagctcttc ttacaaacag
     4201 agcctctcca aggacctcag ttgatgttct ggtccttctg ccgcctcagc ccaccagggt
     4261 ccgtgccacc atgggtctct tgagcagcag ctgcactggc ttctggagag acacccctct
     4321 ttctcctttt gcacatgcac catctgaatc gtgccaggga catcctgggc agattcaggg
     4381 gcagatgccc tatcccccag gagacctggc ccttctctct cagacccaat aagttggaag
     4441 ggacgtcaga agcggtcatc tcatctgccc cttattttat agttggaaac cctgaggcaa
     4501 gagagggaaa gaggcctgtc caaggtccgg gttagtgaca gagctgagct gagaacaggg
     4561 acgttgtgcc ccactgtccc ctgtggtttg tgaatgacct ccaggtcagg gggtcacaac
     4621 ttgttcttag taaacttgcc agctgttggg gtcacatatt cccattctgg ggcctcacaa
     4681 acccccgaat ccagccggga ccccatgcca ggagctggtc tagggacagc atgcttgtga
     4741 cccacagact gttaaagcca gaagggacct cagagagtcc cttatgctgg aggcgccctg
     4801 tcagccgtgg ctaggggccc cttgctctat gctgtgcctt gctgcccaca ggctcccaga
     4861 caccagtgcc cactctgccc agccccggac tgggtgtggc tcgcagatga acaagatgca
     4921 gggcctgcct tgaggggtgt ctcctagaag gaaagccaga ctctccggcc cagccagaga
     4981 gtccagacat ggcagggacc cgtttctcag atgaggagcc tgaggctcag agaagggagg
     5041 cgatgtgttc agggccaccc agcagaagcc tgtggggctg ggcaaccttc tcccacttta
     5101 tgggaggagc tgcagccttg gctgggagct gggcggggag tagccaggac caccccttgc
     5161 ccgtgccgtg acatggaacc ttcatcacta agggggctgg agtgggaaga gggagataac
     5221 tgtgtggtct ccagagcaaa agagaatgag aggtgggcag ggggagtctt ggcaaaagac
     5281 caagttccac ttccctgctg gggaagtcaa ggctcagaaa gaggaaataa ttgccccagg
     5341 taacacaggg cagaggaggg acaaaaagct gggcatggcc ccagccagag cctcatctgc
     5401 ctactccgtg aagcctccca ggtactctgc tatcctggga aacgcacagg gaggccacac
     5461 agagacactg ctcacaagag tcagaccaag gtgccagcac agcctggaaa gagctcagaa
     5521 agggggttgg tgcacgtggc tgggcatctt aggaggcttc ctgagggtgg gtaaaggtgg
     5581 gaaggccctg gcgctgcatc agatgagcag ggcctggcag ggacaagcct cttctccttt
     5641 gggaagccct gcagcctcct agcaagaggc tgattcccca ctctgccccc atctgaatgt
     5701 ccttttcatg ttgcacgcag ggaacctcag gaaggaggat tgcctgatgc ctgcctggct
     5761 ccatccttga gctctgggca ccacctaggg tgagggagag cctgcagctc tggggctaag
     5821 tctgccctgg ggggaaaggg ctccacgctc acacgcacgc gctcgcacac acacactcac
     5881 acctggacgc acacggaggc ttgcggaccc atactcacag gcacatgtgg cctggggact
     5941 gggggagcag gaaagacccc tccaacattt ggcccttgga aggcaccatt gccaatgagc
     6001 ctctttgctg gttcccccga ccccacctgg gggtcccatg ggagcccagc ccagccaggt
     6061 gtggggatgg gccaccggcc attcctgttt tccttgtaca gacagattct cactacccac
     6121 ccgccatccc cagacacatt ttatttaata acttgtcatt gttaaattat ttattagcgt
     6181 ttaccacacc accaccccca ccctgccctc cactctcacc ttccacctct tcccacaaca
     6241 gcagaaaatg gaaacaacaa caaaaaaaga tgagacatca gtatatttgt aaataaaccg
     6301 acctgtacac tc
//
