LOCUS       NM_012134               3927 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens leiomodin 1 (LMOD1), mRNA.
ACCESSION   NM_012134
VERSION     NM_012134.3
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 3927)
  AUTHORS   Li,J.P., Liu,Y.J., Li,Y., Yin,Y., Ye,Q.W., Lu,Z.H., Dong,Y.W.,
            Zhou,J.Y., Zou,X. and Chen,Y.G.
  TITLE     Spatiotemporal heterogeneity of LMOD1 expression summarizes two
            modes of cell communication in colorectal cancer
  JOURNAL   J Transl Med 22 (1), 549 (2024)
   PUBMED   38849852
  REMARK    GeneRIF: Spatiotemporal heterogeneity of LMOD1 expression
            summarizes two modes of cell communication in colorectal cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3927)
  AUTHORS   Tan,Y., Chen,Q., Pan,S., An,W., Xu,H., Xing,Y. and Zhang,J.
  TITLE     LMOD1, an oncogene associated with Lauren classification, regulates
            the metastasis of gastric cancer cells through the FAK-AKT/mTOR
            pathway
  JOURNAL   BMC Cancer 22 (1), 474 (2022)
   PUBMED   35488236
  REMARK    GeneRIF: LMOD1, an oncogene associated with Lauren classification,
            regulates the metastasis of gastric cancer cells through the
            FAK-AKT/mTOR pathway.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 3927)
  AUTHORS   Liu,K., Lu,L., Chen,S., Gu,B., Cai,H., Wang,Y. and Cai,W.
  TITLE     Loss-of-function variants within LMOD1 actin-binding site 2 cause
            pediatric intestinal pseudo-obstruction by impairing protein
            stability and actin nucleation
  JOURNAL   FASEB J 36 (3), e22194 (2022)
   PUBMED   35170814
  REMARK    GeneRIF: Loss-of-function variants within LMOD1 actin-binding site
            2 cause pediatric intestinal pseudo-obstruction by impairing
            protein stability and actin nucleation.
REFERENCE   4  (bases 1 to 3927)
  AUTHORS   Nanda,V., Wang,T., Pjanic,M., Liu,B., Nguyen,T., Matic,L.P.,
            Hedin,U., Koplev,S., Ma,L., Franzen,O., Ruusalepp,A., Schadt,E.E.,
            Bjorkegren,J.L.M., Montgomery,S.B., Snyder,M.P., Quertermous,T.,
            Leeper,N.J. and Miller,C.L.
  TITLE     Functional regulatory mechanism of smooth muscle cell-restricted
            LMOD1 coronary artery disease locus
  JOURNAL   PLoS Genet 14 (11), e1007755 (2018)
   PUBMED   30444878
  REMARK    GeneRIF: rs34091558 is the top regulatory variant for LMOD1 in
            vascular tissues. This genetic variation is associated with
            dysregulated LMOD1 expression/function in smooth muscle cells,
            contributing to the heritable risk for coronary artery disease.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 3927)
  AUTHORS   Halim,D., Wilson,M.P., Oliver,D., Brosens,E., Verheij,J.B., Han,Y.,
            Nanda,V., Lyu,Q., Doukas,M., Stoop,H., Brouwer,R.W., van
            IJcken,W.F., Slivano,O.J., Burns,A.J., Christie,C.K., de Mesy
            Bentley,K.L., Brooks,A.S., Tibboel,D., Xu,S., Jin,Z.G.,
            Djuwantono,T., Yan,W., Alves,M.M., Hofstra,R.M. and Miano,J.M.
  TITLE     Loss of LMOD1 impairs smooth muscle cytocontractility and causes
            megacystis microcolon intestinal hypoperistalsis syndrome in humans
            and mice
  JOURNAL   Proc Natl Acad Sci U S A 114 (13), E2739-E2747 (2017)
   PUBMED   28292896
  REMARK    GeneRIF: Loss of LMOD1 results in a reduction of filamentous actin,
            elongated cytoskeletal dense bodies, and impaired intestinal smooth
            muscle contractility.
REFERENCE   6  (bases 1 to 3927)
  AUTHORS   Conley,C.A., Fritz-Six,K.L., Almenar-Queralt,A. and Fowler,V.M.
  TITLE     Leiomodins: larger members of the tropomodulin (Tmod) gene family
  JOURNAL   Genomics 73 (2), 127-139 (2001)
   PUBMED   11318603
  REMARK    GeneRIF: Lmod1 is a member of the Tropomodulin family of actin
            binding proteins, and is most highly expressed in smooth muscle.
REFERENCE   7  (bases 1 to 3927)
  AUTHORS   Conley,C.A. and Fowler,V.M.
  TITLE     Localization of the human 64kD autoantigen D1 to myofibrils in a
            subset of extraocular muscle fibers
  JOURNAL   Curr Eye Res 19 (4), 313-322 (1999)
   PUBMED   10520227
  REMARK    GeneRIF: Lmod1, formerly the 64kD human autoantigen D1, is
            expressed in smooth muscle and striated extraocular slow muscle
            fibers, colocalized with myosin in the contractile apparatus.
            Protein levels are unaltered by hyperthyroidism.
REFERENCE   8  (bases 1 to 3927)
  AUTHORS   Zhang,Z.G., Wall,J.R. and Bernard,N.F.
  TITLE     Tissue distribution and quantitation of a gene expressing a 64-kDa
            antigen associated with thyroid-associated ophthalmopathy
  JOURNAL   Clin Immunol Immunopathol 80 (3 Pt 1), 236-244 (1996)
   PUBMED   8811043
REFERENCE   9  (bases 1 to 3927)
  AUTHORS   Ambartsumyan,L.
  TITLE     Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31070878
REFERENCE   10 (bases 1 to 3927)
  AUTHORS   Dong,Q., Ludgate,M. and Vassart,G.
  TITLE     Cloning and sequencing of a novel 64-kDa autoantigen recognized by
            patients with autoimmune thyroid disease
  JOURNAL   J Clin Endocrinol Metab 72 (6), 1375-1381 (1991)
   PUBMED   2026759
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC099676.2 and AL513217.11.
            
            On Nov 23, 2018 this sequence version replaced NM_012134.2.
            
            Summary:  The leiomodin 1 protein has a putative membrane-spanning
            region and 2 types of tandemly repeated blocks.  The transcript is
            expressed in all tissues tested, with the highest levels in
            thyroid, eye muscle, skeletal muscle, and ovary. Increased
            expression of leiomodin 1 may be linked to Graves' disease and
            thyroid-associated ophthalmopathy. [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 :: BC080187.1, X54162.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000367288.5/ ENSP00000356257.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-469               AC099676.2         46726-47194         c
            470-1866            AC099676.2         1-1397              c
            1867-1984           AL513217.11        18024-18141         c
            1985-3927           AL513217.11        15243-17185         c
FEATURES             Location/Qualifiers
     source          1..3927
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q32.1"
     gene            1..3927
                     /gene="LMOD1"
                     /gene_synonym="1D; 64kD; D1; MMIHS3; SM-LMOD; SMLMOD"
                     /note="leiomodin 1"
                     /db_xref="GeneID:25802"
                     /db_xref="HGNC:HGNC:6647"
                     /db_xref="MIM:602715"
     exon            1..469
                     /gene="LMOD1"
                     /gene_synonym="1D; 64kD; D1; MMIHS3; SM-LMOD; SMLMOD"
                     /inference="alignment:Splign:2.1.0"
     CDS             209..2011
                     /gene="LMOD1"
                     /gene_synonym="1D; 64kD; D1; MMIHS3; SM-LMOD; SMLMOD"
                     /note="thyroid and eye muscle autoantigen D1 (64kD);
                     leimodin 1 (smooth muscle); 64 kDa autoantigen 1D; 64 kDa
                     autoantigen D1; 64 kDa autoantigen 1D3; leiomodin, muscle
                     form; smooth muscle leiomodin; thyroid-associated
                     ophthalmopathy autoantigen; leiomodin 1 (smooth muscle)"
                     /codon_start=1
                     /product="leiomodin-1"
                     /protein_id="NP_036266.2"
                     /db_xref="CCDS:CCDS53457.1"
                     /db_xref="GeneID:25802"
                     /db_xref="HGNC:HGNC:6647"
                     /db_xref="MIM:602715"
                     /translation="MSRVAKYRRQVSEDPDIDSLLETLSPEEMEELEKELDVVDPDGS
                     VPVGLRQRNQTEKQSTGVYNREAMLNFCEKETKKLMQREMSMDESKQVETKTDAKNGE
                     ERGRDASKKALGPRRDSDLGKEPKRGGLKKSFSRDRDEAGGKSGEKPKEEKIIRGIDK
                     GRVRAAVDKKEAGKDGRGEERAVATKKEEEKKGSDRNTGLSRDKDKKREEMKEVAKKE
                     DDEKVKGERRNTDTRKEGEKMKRAGGNTDMKKEDEKVKRGTGNTDTKKDDEKVKKNEP
                     LHEKEAKDDSKTKTPEKQTPSGPTKPSEGPAKVEEEAAPSIFDEPLERVKNNDPEMTE
                     VNVNNSDCITNEILVRFTEALEFNTVVKLFALANTRADDHVAFAIAIMLKANKTITSL
                     NLDSNHITGKGILAIFRALLQNNTLTELRFHNQRHICGGKTEMEIAKLLKENTTLLKL
                     GYHFELAGPRMTVTNLLSRNMDKQRQKRLQEQRQAQEAKGEKKDLLEVPKAGAVAKGS
                     PKPSPQPSPKPSPKNSPKKGGAPAAPPPPPPPLAPPLIMENLKNSLSPATQRKMGDKV
                     LPAQEKNSRDQLLAAIRSSNLKQLKKVEVPKLLQ"
     exon            470..1984
                     /gene="LMOD1"
                     /gene_synonym="1D; 64kD; D1; MMIHS3; SM-LMOD; SMLMOD"
                     /inference="alignment:Splign:2.1.0"
     exon            1985..3927
                     /gene="LMOD1"
                     /gene_synonym="1D; 64kD; D1; MMIHS3; SM-LMOD; SMLMOD"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2723..2728
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LMOD1"
                     /gene_synonym="1D; 64kD; D1; MMIHS3; SM-LMOD; SMLMOD"
                     /note="hexamer: AATATA"
     polyA_site      2748
                     /gene="LMOD1"
                     /gene_synonym="1D; 64kD; D1; MMIHS3; SM-LMOD; SMLMOD"
     regulatory      3910..3915
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LMOD1"
                     /gene_synonym="1D; 64kD; D1; MMIHS3; SM-LMOD; SMLMOD"
                     /note="hexamer: AATAAA"
     polyA_site      3927
                     /gene="LMOD1"
                     /gene_synonym="1D; 64kD; D1; MMIHS3; SM-LMOD; SMLMOD"
                     /note="major polyA site"
ORIGIN      
        1 gtccactagc cctgggcttc agggaggctg ctgcgtccag tgaacacttc agcacctgta
       61 gcacagaagg gccaaggagc tgcagtcctc gaccagcagg aggtttgctc ctcagcccac
      121 tcgctgcatc cagatcagct cacccctctc ccttccctgc ccaccaggac tctgatagcc
      181 cctggcagcc acagcccatt ttgccaagat gtctagagta gccaaatatc gccggcaggt
      241 gagtgaagac cccgacatcg acagcctgct ggagaccctg tctcccgagg agatggagga
      301 gctggagaag gagctggacg tggtggaccc agacgggagt gttcccgtgg ggctgcggca
      361 gagaaaccag acggagaaac agtccacggg tgtgtacaac cgggaggcca tgctcaactt
      421 ctgtgaaaag gagaccaaga aacttatgca gagggagatg tccatggatg aaagcaagca
      481 agtggagacc aagacagatg ccaagaatgg agaggaaagg ggcagagatg ccagcaaaaa
      541 agccctgggc cccagacggg actcagatct ggggaaggag ccaaagaggg gtggtttaaa
      601 gaaaagcttc tctagagaca gagatgaagc tggtggcaag agtggcgaga agcccaagga
      661 ggagaagatc atccggggca ttgacaaggg ccgggtcagg gctgcagtgg ataagaagga
      721 ggcagggaag gatgggagag gagaggagag ggcagtggcc accaagaagg aagaggagaa
      781 gaaagggagt gacaggaaca caggcttgag cagggacaag gataaaaaga gagaggagat
      841 gaaggaggtg gccaagaaag aggatgatga gaaggtaaaa ggggagcgta ggaacacaga
      901 caccagaaaa gagggtgaga agatgaaaag agcaggtggg aacacagaca tgaaaaagga
      961 ggatgagaag gtaaaaagag gaactgggaa cacagacacc aaaaaggacg atgaaaaagt
     1021 caagaagaat gaacccttac atgaaaagga agccaaggat gacagcaaga ccaaaacacc
     1081 cgagaaacag acgcccagtg gccccaccaa gccctctgaa ggaccggcca aggtggagga
     1141 ggaggcagct cccagcatat ttgatgagcc tctggagaga gtgaagaaca atgaccccga
     1201 gatgactgag gtgaacgtca acaactcaga ctgcatcaca aatgagatct tggtccggtt
     1261 tactgaggct ctggagttca acactgtggt taagctgttc gccttggcca acacgcgagc
     1321 cgatgaccac gtggcctttg ccattgccat catgctcaag gccaacaaga ccatcaccag
     1381 cctcaacctg gactccaacc acatcacagg caaaggcatc ctggccatct tccgggccct
     1441 cctccagaac aacacgctga ccgagctccg cttccacaac cagcgacaca tctgtggagg
     1501 caagacggag atggagatcg ccaagctgct gaaggagaat actaccctgc tcaagctggg
     1561 ctaccatttt gagctggccg ggccccgaat gactgtcacc aatctgctca gccgcaacat
     1621 ggacaagcag agacaaaagc ggctgcagga gcaaaggcag gcacaggaag ccaagggaga
     1681 gaagaaggat ctgctggagg tacccaaggc cggggccgtg gctaagggct ccccaaaacc
     1741 ttcacctcaa ccatctccaa agccctctcc aaagaactca cccaaaaaag ggggtgctcc
     1801 agctgcccca ccaccccctc cccctccctt ggctccaccc cttatcatgg agaacctgaa
     1861 gaattcactc tcaccagcta cccagaggaa gatgggagac aaagtcctcc ctgcccagga
     1921 gaagaactcc cgtgaccagc tattggctgc catccgctcc agcaacctca agcagctcaa
     1981 gaaggtggaa gtgcccaaac tgcttcagta ggaccaggct gccaggcacc atctgccaat
     2041 gccatgactg ctcaggcctc acctcccagg gctacacaga ccctgcccac cccatccctg
     2101 gctgacctgc tgtggatgtc cctattctgc catgggagag tccaggcctg ggtcacgctc
     2161 aaggaaggat gccttatctc ttctcacttt ccttttcttg tctctgaggc tctccaaatt
     2221 ttgctttagt acatggagct caggtttctg gacaagaaga gtccttttag cacatcactg
     2281 agaagatggc actgtccagg gcccatgtag ctggcaagct gcaaaaggcc tgtgatccag
     2341 gaaagatgtc ccacagggac cacatccacc ccagccccac tgccctccag ggccaggatt
     2401 caggcctctg aggagcccac ggggcaaagc tgctgggcca gtggcactct gtgtgggaaa
     2461 atggcagaaa gatggagagg catgggggcc caaaggggag cgtggggagg ggctgaggat
     2521 accccaaagt ccaggctaat tagaggatgt ggcaggggca gtggcctgga tgcacagtgc
     2581 ctgatgggag taggctccag acaggaggag tgggacagac agcagctgga cttgaaggtt
     2641 tgatgccaaa gcagacattt tcctcacacc cacctgctgc tgtatgaata gctgtgtatc
     2701 tgtttttcca taagattttg ataatatata caaaccttta gctgtgaatg gctgtgcccc
     2761 acctgttgtc ctgaactgtg agtcctgatc ctaaccctgg gctccctgga ggactctaga
     2821 agctcaggtt ccctgccaca ctatttgagt tggccaagaa ataaattcac atcctcagaa
     2881 agtgcagcat ggaggaaaat ctgaactcta agcagaagac tctccactga cctggttgtc
     2941 caggtctaga aggccaggcc tctactaggt ctgctcctga accagtcctg ctgcctggag
     3001 tcagtagcca gagttgttct caggggtgct ggggcagagt ggagcccagg gtgctgggat
     3061 ggctatatta ggcatgttca gggatgctca ttccatgact ctgcctaacc atgggctcag
     3121 ggccaggtcc tcacagcagt cacaggccca ggaaggcggc aggcagagaa gtggagtgac
     3181 tatttggaga atagcaccca tatctgtgtg ccctagggct cagaggggcc tcatcttccc
     3241 cagccctccc cacctgctca ccaattccac ttcctgcccc aactgcagga atgctgacaa
     3301 tgctgccatg cccaccatcg ggtgtaggtg aaaggcatct ttctgaattt cattctcttg
     3361 aaggtgctgc caccccttgg cactgtggaa ctgccacctt gggtctgtgt cacttgtagg
     3421 tttctctgcc tccaggttgc ctcaacagca ggaggcacag cagtttcacc atctttgagg
     3481 tgagggtggg gtgccccagc taggaagcaa gatcgctgtg ctaggtctga ccaaaaccag
     3541 agggcagtct agtcctgggg gtaaagccct cagatcccag ggtacactct tctccattcc
     3601 ctccacccac ttgcctgtca ccccagtcac ctaagcaatc actgggccca gaggagagga
     3661 gacagacaca cactggctcc tggacctaaa gggtatgagc tggagctaag gccagctaga
     3721 gcttccactg tcagccctca ctgtcagtcc cactgcaccc ccctgtgcct gctgggcact
     3781 gggcactagc tagatgcttt aggttgcttc agctgatcct tcaactctgt gaggtggata
     3841 ccaatattct attttgcaga tagaatttgg cccagagagg ttaactaata tatccatgat
     3901 cacacagcta ataaaagtca gagctca
//
