LOCUS       NM_001159699            2286 bp    mRNA    linear   PRI 05-DEC-2024
DEFINITION  Homo sapiens four and a half LIM domains 1 (FHL1), transcript
            variant 7, mRNA.
ACCESSION   NM_001159699
VERSION     NM_001159699.2
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 2286)
  AUTHORS   Zeng,Y., Zeng,D., Qi,X., Wang,H., Wang,X., Dai,X. and Qu,L.
  TITLE     FHL1: A novel diagnostic marker for papillary thyroid carcinoma
  JOURNAL   Pathol Int 74 (9), 520-529 (2024)
   PUBMED   39119938
  REMARK    GeneRIF: FHL1: A novel diagnostic marker for papillary thyroid
            carcinoma.
REFERENCE   2  (bases 1 to 2286)
  AUTHORS   Schoser,B., Goebel,H.H., Janisch,I., Quasthoff,S., Rother,J.,
            Bergmann,M., Muller-Felber,W. and Windpassinger,C.
  TITLE     Consequences of mutations within the C terminus of the FHL1 gene
  JOURNAL   Neurology 73 (7), 543-551 (2009)
   PUBMED   19687455
  REMARK    GeneRIF: As a consequence of C terminal FHL1 gene mutations, the
            X-linked myopathy characterized by postural muscle atrophy (XMPMA)
            phenotype and morphotype with cytoplasmic bodies are found.
REFERENCE   3  (bases 1 to 2286)
  AUTHORS   Ding,L., Wang,Z., Yan,J., Yang,X., Liu,A., Qiu,W., Zhu,J., Han,J.,
            Zhang,H., Lin,J., Cheng,L., Qin,X., Niu,C., Yuan,B., Wang,X.,
            Zhu,C., Zhou,Y., Li,J., Song,H., Huang,C. and Ye,Q.
  TITLE     Human four-and-a-half LIM family members suppress tumor cell growth
            through a TGF-beta-like signaling pathway
  JOURNAL   J Clin Invest 119 (2), 349-361 (2009)
   PUBMED   19139564
  REMARK    GeneRIF: Human four-and-a-half LIM family members suppress tumor
            cell growth through a TGF-beta-like signaling pathway.
REFERENCE   4  (bases 1 to 2286)
  AUTHORS   Greene,W.K., Baker,E., Rabbitts,T.H. and Kees,U.R.
  TITLE     Genomic structure, tissue expression and chromosomal location of
            the LIM-only gene, SLIM1
  JOURNAL   Gene 232 (2), 203-207 (1999)
   PUBMED   10352231
REFERENCE   5  (bases 1 to 2286)
  AUTHORS   Morgan,M.J. and Madgwick,A.J.
  TITLE     The LIM proteins FHL1 and FHL3 are expressed differently in
            skeletal muscle
  JOURNAL   Biochem Biophys Res Commun 255 (2), 245-250 (1999)
   PUBMED   10049693
REFERENCE   6  (bases 1 to 2286)
  AUTHORS   Lee,S.M., Tsui,S.K., Chan,K.K., Garcia-Barcelo,M., Waye,M.M.,
            Fung,K.P., Liew,C.C. and Lee,C.Y.
  TITLE     Chromosomal mapping, tissue distribution and cDNA sequence of
            four-and-a-half LIM domain protein 1 (FHL1)
  JOURNAL   Gene 216 (1), 163-170 (1998)
   PUBMED   9714789
REFERENCE   7  (bases 1 to 2286)
  AUTHORS   Morgan,M.J., Madgwick,A.J., Charleston,B., Pell,J.M. and
            Loughna,P.T.
  TITLE     The developmental regulation of a novel muscle LIM-protein
  JOURNAL   Biochem Biophys Res Commun 212 (3), 840-846 (1995)
   PUBMED   7626119
REFERENCE   8  (bases 1 to 2286)
  AUTHORS   Selcen,D. and Engel,A.G.
  TITLE     Myofibrillar Myopathy - RETIRED CHAPTER, FOR HISTORICAL REFERENCE
            ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301672
REFERENCE   9  (bases 1 to 2286)
  AUTHORS   Zhang,K., Astigarraga,I., Bryceson,Y., Lehmberg,K., Machowicz,R.,
            Marsh,R., Sieni,E., Wang,Z. and Nichols,K.E.
  TITLE     Familial Hemophagocytic Lymphohistiocytosis
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301617
REFERENCE   10 (bases 1 to 2286)
  AUTHORS   Bonne,G., Leturcq,F. and Ben Yaou,R.
  TITLE     Emery-Dreifuss Muscular Dystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301609
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC373386.1, BC088369.1 and
            BM995585.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 20, 2019 this sequence version replaced NM_001159699.1.
            
            Summary: This gene encodes a member of the four-and-a-half-LIM-only
            protein family. Family members contain two highly conserved,
            tandemly arranged, zinc finger domains with four highly conserved
            cysteines binding a zinc atom in each zinc finger. Expression of
            these family members occurs in a cell- and tissue-specific mode and
            these proteins are involved in many cellular processes. Mutations
            in this gene have been found in patients with Emery-Dreifuss
            muscular dystrophy. Multiple alternately spliced transcript
            variants which encode different protein isoforms have been
            described.[provided by RefSeq, Nov 2009].
            
            Transcript Variant: This variant (7) differs in the 5' UTR, 3' UTR,
            and 3' coding region and initiates translation at an alternate
            start codon, compared to variant 1. The encoded protein (isoform 5)
            has distinct N- and C-termini and is shorter than 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 :: SRR5189655.191858.1, BC088369.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000370683.6/ ENSP00000359717.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-16                DC373386.1         153-168
            17-2282             BC088369.1         1-2266
            2283-2286           BM995585.1         24-27               c
FEATURES             Location/Qualifiers
     source          1..2286
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq26.3"
     gene            1..2286
                     /gene="FHL1"
                     /gene_synonym="FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; KYOT;
                     RBMX1A; RBMX1B; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA"
                     /note="four and a half LIM domains 1"
                     /db_xref="GeneID:2273"
                     /db_xref="HGNC:HGNC:3702"
                     /db_xref="MIM:300163"
     exon            1..88
                     /gene="FHL1"
                     /gene_synonym="FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; KYOT;
                     RBMX1A; RBMX1B; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..957
                     /gene="FHL1"
                     /gene_synonym="FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; KYOT;
                     RBMX1A; RBMX1B; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA"
                     /note="isoform 5 is encoded by transcript variant 7; LIM
                     protein SLIMMER; four-and-a-half Lin11, Isl-1 and Mec-3
                     domains 1; skeletal muscle LIM-protein 1"
                     /codon_start=1
                     /product="four and a half LIM domains protein 1 isoform 5"
                     /protein_id="NP_001153171.1"
                     /db_xref="CCDS:CCDS55506.1"
                     /db_xref="GeneID:2273"
                     /db_xref="HGNC:HGNC:3702"
                     /db_xref="MIM:300163"
                     /translation="MASHRHSGPSSYKVGTMAEKFDCHYCRDPLQGKKYVQKDGHHCC
                     LKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETFVAKDNK
                     ILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPK
                     GEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTA
                     VEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAYEGQSWHDYCFHCKKCSVNLA
                     NKRFVFHQEQVYCPDCAKKL"
     exon            89..270
                     /gene="FHL1"
                     /gene_synonym="FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; KYOT;
                     RBMX1A; RBMX1B; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA"
                     /inference="alignment:Splign:2.1.0"
     exon            271..445
                     /gene="FHL1"
                     /gene_synonym="FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; KYOT;
                     RBMX1A; RBMX1B; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA"
                     /inference="alignment:Splign:2.1.0"
     exon            446..615
                     /gene="FHL1"
                     /gene_synonym="FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; KYOT;
                     RBMX1A; RBMX1B; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA"
                     /inference="alignment:Splign:2.1.0"
     exon            616..802
                     /gene="FHL1"
                     /gene_synonym="FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; KYOT;
                     RBMX1A; RBMX1B; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA"
                     /inference="alignment:Splign:2.1.0"
     exon            803..2286
                     /gene="FHL1"
                     /gene_synonym="FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; KYOT;
                     RBMX1A; RBMX1B; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2266..2271
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FHL1"
                     /gene_synonym="FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; KYOT;
                     RBMX1A; RBMX1B; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA"
                     /note="hexamer: AATAAA"
     polyA_site      2286
                     /gene="FHL1"
                     /gene_synonym="FCMSU; FHL-1; FHL1A; FHL1B; FLH1A; KYOT;
                     RBMX1A; RBMX1B; SLIM; SLIM-1; SLIM1; SLIMMER; XMPMA"
                     /note="major polyA site"
ORIGIN      
        1 agccttatca gctggggttg agggaagact ggtctaggtg ctgctcctga acttggtctc
       61 tgagccatgg cttcccatag acactcaggt ccctccagct acaaggtggg caccatggcg
      121 gagaagtttg actgccacta ctgcagggat cccttgcagg ggaagaagta tgtgcaaaag
      181 gatggccacc actgctgcct gaaatgcttt gacaagttct gtgccaacac ctgtgtggaa
      241 tgccgcaagc ccatcggtgc ggactccaag gaggtgcact ataagaaccg cttctggcat
      301 gacacctgct tccgctgtgc caagtgcctt caccccttgg ccaatgagac ctttgtggcc
      361 aaggacaaca agatcctgtg caacaagtgc accactcggg aggactcccc caagtgcaag
      421 gggtgcttca aggccattgt ggcaggagat caaaacgtgg agtacaaggg gaccgtctgg
      481 cacaaagact gcttcacctg tagtaactgc aagcaagtca tcgggactgg aagcttcttc
      541 cctaaagggg aggacttcta ctgcgtgact tgccatgaga ccaagtttgc caagcattgc
      601 gtgaagtgca acaaggccat cacatctgga ggaatcactt accaggatca gccctggcat
      661 gccgattgct ttgtgtgtgt tacctgctct aagaagctgg ctgggcagcg tttcaccgct
      721 gtggaggacc agtattactg cgtggattgc tacaagaact ttgtggccaa gaagtgtgct
      781 ggatgcaaga accccatcac tgggtttggt aaaggctcca gtgtggtggc ctatgaagga
      841 caatcctggc acgactactg cttccactgc aaaaaatgct ccgtgaatct ggccaacaag
      901 cgctttgttt tccaccagga gcaagtgtat tgtcccgact gtgccaaaaa gctgtaaact
      961 gacaggggct cctgtcctgt aaaatggcat ttgaatctcg ttctttgtgt ccttactttc
     1021 tgccctatac catcaatagg ggaagagtgg tccttccctt ctttaaagtt ctccttccgt
     1081 cttttctccc attttacagt attactcaaa taagggcaca cagtgatcat attagcattt
     1141 agcaaaaagc aaccctgcag caaagtgaat ttctgtccgg ctgcaattta aaaatgaaaa
     1201 cttaggtaga ttgactcttc tgcatgtttc tcatagagca gaaaagtgct aatcatttag
     1261 ccacttagtg atgtaagcaa gaagcatagg agataaaacc cccactgaga tgcctctcat
     1321 gcctcagctg ggacccaccg tgtagacaca cgacatgcaa gagttgcagc ggctgctcca
     1381 actcactgct caccctcttc tgtgagcagg aaaagaaccc tactgacatg catggtttaa
     1441 cttcctcatc agaactctgc ccttccttct gttcttttgt gctttcaaat aactaacacg
     1501 aacttccaga aaattaacat ttgaacttag ctgtaattct aaactgacct ttccccgtac
     1561 taacgtttgg tttccccgtg tggcatgttt tctgagcgtt cctactttaa agcatggaac
     1621 atgcaggtga tttgggaagt gtagaaagac ctgagaaaac gagcctgttt cagaggaaca
     1681 tcgtcacaac gaatacttct ggaagcttaa caaaactaac cctgctgtcc tttttattgt
     1741 ttttaattaa tatttttgtt ttaattgata gcaaaatagt ttatgggttt ggaaacttgc
     1801 atgaaaatat tttagccccc tcagatgttc ctgcagtgct gaaattcatc ctacggaagt
     1861 aaccgcaaaa ctctagaggg ggagttgagc aggcgccagg gctgtcatca acatggatat
     1921 gacatttcac aacagtgact agttgaatcc cttgtaacgt agtagttgtc tgctctttgt
     1981 ccatgtgtta atgaggactg caaagtccct tctgttgtga ttcctaggac ttttcctcaa
     2041 gaggaaatct ggatttccac ctaccgctta cctgaaatgc aggatcacct acttactgta
     2101 ttctacatta ttatatgaca tagtataatg agacaatatc aaaagtaaac atgtaatgac
     2161 aatacatact aacattcttg taggagtggt tagagaagct gatgcctcat ttctacattc
     2221 tgtcattagc tattatcatc taacgtttca gtgtatcctt acagaaataa agcagcatat
     2281 gaataa
//
