LOCUS       NM_005568               3425 bp    mRNA    linear   PRI 12-FEB-2025
DEFINITION  Homo sapiens LIM homeobox 1 (LHX1), mRNA.
ACCESSION   NM_005568
VERSION     NM_005568.5
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 3425)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 3425)
  AUTHORS   Hamaidi,I., Coquard,C., Danilin,S., Dormoy,V., Beraud,C.,
            Rothhut,S., Barthelmebs,M., Benkirane-Jessel,N., Lindner,V.,
            Lang,H. and Massfelder,T.
  TITLE     The Lim1 oncogene as a new therapeutic target for metastatic human
            renal cell carcinoma
  JOURNAL   Oncogene 38 (1), 60-72 (2019)
   PUBMED   30076415
  REMARK    GeneRIF: The potential pro-metastatic role of Lim1 in advanced
            clear cell renal cell carcinoma in vitro, ex vivo, and in vivo in a
            nude mouse model. Lim1 was found constitutively expressed in all
            metastatic tissues. Lim1 silencing decreased pulmonary metastasis
            in the in vivo model. Lim1 is involved in the expression of various
            proteins regulating cell movements and EMT, and induced
            clonogenicity in CCC cells.
REFERENCE   3  (bases 1 to 3425)
  AUTHORS   Williams,L.S., Demir Eksi,D., Shen,Y., Lossie,A.C., Chorich,L.P.,
            Sullivan,M.E., Phillips,J.A. 3rd, Erman,M., Kim,H.G., Alper,O.M.
            and Layman,L.C.
  TITLE     Genetic analysis of Mayer-Rokitansky-Kuster-Hauser syndrome in a
            large cohort of families
  JOURNAL   Fertil Steril 108 (1), 145-151 (2017)
   PUBMED   28600106
  REMARK    GeneRIF: Our MRKH families included 43 quads, 26 trios, and 30
            duos. Of our MRKH probands, 87/147 (59%) had MRKH type 1 and 60/147
            (41%) had type 2 with additional anomalies. CONCLUSION(S): Although
            the prevalence of WNT4, HNF1B, and LHX1 point mutations is low in
            people with MRKH, the prevalence of CNVs was approximately 19%.
REFERENCE   4  (bases 1 to 3425)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   5  (bases 1 to 3425)
  AUTHORS   Phillips,J.C.
  TITLE     Assignment of LHX1 to human chromosome bands 17q11.2-->q12 by use
            of radiation hybrid mapping and somatic cell hybridization
  JOURNAL   Cytogenet Genome Res 97 (1-2), 140D (2002)
   PUBMED   12438757
REFERENCE   6  (bases 1 to 3425)
  AUTHORS   Lim,H.N. and Hawkins,J.R.
  TITLE     Genetic control of gonadal differentiation
  JOURNAL   Baillieres Clin Endocrinol Metab 12 (1), 1-16 (1998)
   PUBMED   9890059
  REMARK    Review article
REFERENCE   7  (bases 1 to 3425)
  AUTHORS   Jurata,L.W., Pfaff,S.L. and Gill,G.N.
  TITLE     The nuclear LIM domain interactor NLI mediates homo- and
            heterodimerization of LIM domain transcription factors
  JOURNAL   J Biol Chem 273 (6), 3152-3157 (1998)
   PUBMED   9452425
REFERENCE   8  (bases 1 to 3425)
  AUTHORS   Dong,W.F., Heng,H.H., Lowsky,R., Xu,Y., DeCoteau,J.F., Shi,X.M.,
            Tsui,L.C. and Minden,M.D.
  TITLE     Cloning, expression, and chromosomal localization to 11p12-13 of a
            human LIM/HOMEOBOX gene, hLim-1
  JOURNAL   DNA Cell Biol 16 (6), 671-678 (1997)
   PUBMED   9212161
REFERENCE   9  (bases 1 to 3425)
  AUTHORS   Bozzi,F., Bertuzzi,S., Strina,D., Giannetto,C., Vezzoni,P. and
            Villa,A.
  TITLE     The exon-intron structure of human LHX1 gene
  JOURNAL   Biochem Biophys Res Commun 229 (2), 494-497 (1996)
   PUBMED   8954926
REFERENCE   10 (bases 1 to 3425)
  AUTHORS   Mitchel,M.W., Moreno-De-Luca,D., Myers,S.M., Levy,R.V., Turner,S.,
            Ledbetter,D.H. and Martin,C.L.
  TITLE     17q12 Recurrent Deletion Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27929632
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC020470.1, BC101674.1 and
            AC243773.3.
            
            On May 17, 2019 this sequence version replaced NM_005568.4.
            
            Summary: This gene encodes a member of a large protein family which
            contains the LIM domain, a unique cysteine-rich zinc-binding
            domain. The encoded protein is a transcription factor important for
            the development of the renal and urogenital systems. This gene is a
            candidate for Mayer-Rokitansky-Kuster-Hauser syndrome, a disorder
            characterized by anomalies in the female genital tract. [provided
            by RefSeq, Dec 2010].
            
            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 :: SRR6380201.70499.3, U14755.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1970526, SAMEA2145774
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000614239.1/ ENSP00000477829.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1504              BC020470.1         1-1504
            1505-1973           BC101674.1         874-1342
            1974-3425           AC243773.3         36057-37508         c
FEATURES             Location/Qualifiers
     source          1..3425
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..3425
                     /gene="LHX1"
                     /gene_synonym="LIM-1; LIM1"
                     /note="LIM homeobox 1"
                     /db_xref="GeneID:3975"
                     /db_xref="HGNC:HGNC:6593"
                     /db_xref="MIM:601999"
     exon            1..893
                     /gene="LHX1"
                     /gene_synonym="LIM-1; LIM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             724..1944
                     /gene="LHX1"
                     /gene_synonym="LIM-1; LIM1"
                     /note="LIM homeobox protein 1; homeobox protein Lim-1"
                     /codon_start=1
                     /product="LIM/homeobox protein Lhx1"
                     /protein_id="NP_005559.2"
                     /db_xref="CCDS:CCDS11316.1"
                     /db_xref="GeneID:3975"
                     /db_xref="HGNC:HGNC:6593"
                     /db_xref="MIM:601999"
                     /translation="MVHCAGCKRPILDRFLLNVLDRAWHVKCVQCCECKCNLTEKCFS
                     REGKLYCKNDFFRCFGTKCAGCAQGISPSDLVRRARSKVFHLNCFTCMMCNKQLSTGE
                     ELYIIDENKFVCKEDYLSNSSVAKENSLHSATTGSDPSLSPDSQDPSQDDAKDSESAN
                     VSDKEAGSNENDDQNLGAKRRGPRTTIKAKQLETLKAAFAATPKPTRHIREQLAQETG
                     LNMRVIQVWFQNRRSKERRMKQLSALGARRHAFFRSPRRMRPLVDRLEPGELIPNGPF
                     SFYGDYQSEYYGPGGNYDFFPQGPPSSQAQTPVDLPFVPSSGPSGTPLGGLEHPLPGH
                     HPSSEAQRFTDILAHPPGDSPSPEPSLPGPLHSMSAEVFGPSPPFSSLSVNGGASYGN
                     HLSHPPEMNEAAVW"
     exon            894..1120
                     /gene="LHX1"
                     /gene_synonym="LIM-1; LIM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1121..1398
                     /gene="LHX1"
                     /gene_synonym="LIM-1; LIM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1399..1564
                     /gene="LHX1"
                     /gene_synonym="LIM-1; LIM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1565..3425
                     /gene="LHX1"
                     /gene_synonym="LIM-1; LIM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3400..3405
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LHX1"
                     /gene_synonym="LIM-1; LIM1"
                     /note="hexamer: AATAAA"
     regulatory      3406..3411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LHX1"
                     /gene_synonym="LIM-1; LIM1"
                     /note="hexamer: AATAGA"
     polyA_site      3419
                     /gene="LHX1"
                     /gene_synonym="LIM-1; LIM1"
                     /note="major polyA site"
     polyA_site      3425
                     /gene="LHX1"
                     /gene_synonym="LIM-1; LIM1"
                     /note="major polyA site"
ORIGIN      
        1 ccaagatctt cctcctaccc tcccctcttt cccttctccc gcggtcggcc ctcgccccct
       61 cccccaggcc cagcgcgggc gctcggcgcg tccagacccg cggcgcgatg ccggcagttt
      121 aggatccaaa gcttctctgc tccttttgtt ctttccttcc cttttttaaa aaaagagggg
      181 ggaaatccca gtggtgggca gcctggcacg cacacagtcg ccctcatacc ccgacaaaag
      241 cagatgcact ttgacttctg acagctctac ctcaagcccc ggagaactca gcggcgcttt
      301 cctcgcaacc cgagctcggc gagtcgtcgt cttcttcttc tccgttttta tttatttatt
      361 tccgttcccg ccgccgttct cgctgacctt cactcctccg cgggctctga gcagaagggt
      421 cgcattctct cccgcctgag acttcttttc ctcgccccgg gagctcaggc ggcgccgctc
      481 cagcccgggg ccccgggact ccccggctgc acacttcact gagacgcccc cccaggcccc
      541 gatcagcctc gtttcctcca ccctactttg atttcctggt gcgagttttg gcttgcacgg
      601 ccgagtgtgt gtcctctttt tggagagact ggggagctcg tgccgattgt cttcaggagt
      661 catcccctgg gctctacttt gcccctctct ctctctgggc ctcatcagac caaaccaaag
      721 accatggttc actgtgccgg ctgcaaaagg cccatcctgg accgctttct cttgaacgtg
      781 ctggacaggg cctggcacgt caagtgcgtc cagtgctgtg aatgtaaatg caacctgacc
      841 gagaagtgct tctccaggga aggcaaactc tactgcaaga acgacttctt ccggtgtttc
      901 ggtaccaaat gcgcaggctg cgctcagggc atctccccta gcgacctggt gcggagagcg
      961 cggagcaaag tgtttcacct gaactgcttc acctgcatga tgtgtaacaa gcagctctcc
     1021 actggcgagg aactctacat catcgacgag aataagttcg tctgcaaaga ggattaccta
     1081 agtaacagca gtgttgccaa agagaacagc cttcactcgg ccaccacggg cagtgacccc
     1141 agtttgtctc cggattccca agacccgtcg caggacgacg ccaaggactc ggagagcgcc
     1201 aacgtgtcgg acaaggaagc gggtagcaac gagaatgacg accagaacct gggcgccaag
     1261 cggcggggac cgcgcaccac catcaaagcc aagcagctgg agacgctgaa ggccgccttc
     1321 gctgctacac ccaagcccac ccgccacatc cgcgagcagc tggcgcagga gaccggcctc
     1381 aacatgcgcg tcattcaggt ctggttccag aaccggcgct ccaaggagcg gaggatgaag
     1441 cagctgagcg ccctgggcgc ccggcgccac gccttcttcc gcagtccgcg ccggatgcgg
     1501 ccgctggtgg accgcctgga gccgggcgag ctcatcccca atggtccctt ctccttctac
     1561 ggagattacc agagcgagta ctacgggccc gggggcaact acgacttctt cccgcaaggc
     1621 cccccgtcct cgcaggccca gacaccagtg gacctaccct tcgtgccgtc atctgggccg
     1681 tccgggacgc ccctgggtgg cctggagcac ccgctgccgg gccaccaccc gtcgagcgag
     1741 gcgcagcggt ttaccgacat cctggcgcac ccacccgggg actcgcccag ccccgagccc
     1801 agcctgcccg ggcctctgca ctccatgtcg gccgaggtct tcggacccag cccgcccttc
     1861 tcgtcgctgt cggtcaacgg tggggcgagc tacggaaacc acctgtccca cccccccgaa
     1921 atgaacgagg cggccgtgtg gtagcggggt ctcgcacggt ctgcggagtt cgtggttgta
     1981 cagaaatgaa cctttattta agaaaaatag aaaaaaaaaa acataaaaag caagtcccca
     2041 cccccttcct ccagcctcga gaaccattct ccttctgggg agaccggatg gaaaaggggg
     2101 acacgaaata ggatccaaat cggcctcgag gtgggactgg gatccgcgca ctggctgtcg
     2161 acgtgcagaa ctggggctcc ccaaaggaaa cgcagacctc tccccaactc ccacctggac
     2221 ccggatccgt agacagaccc cgcgggcgtg tgcgcctggc aggcgggcgg cgaaaagacg
     2281 tccagggcag ccgcgggtgc gcacagccgt tggcgatgcc aggagccgtg gggagggagg
     2341 ccgtgagcac agccgggtga aggaagtgaa gcggcccagg gcgctcccgg gccagccagg
     2401 agggttctag ctctgggata tcccttatta gtgttgtctc agagttcaac aacagcgaca
     2461 aaaaactctt atagcttcag aaacgccgac ctgccgtgca tcaggtggga ctatatatat
     2521 attttttgtc tatctggatt tttggttttt gtttttgcca aaattgcaaa attctaaatg
     2581 taaagccctc cgtatcaact cttctacctt cgcaaaacta cacatacaca catacacacg
     2641 tacacggaca cactcggtaa gatggtctcc agccagaccg ctcagtaaaa tgacttgaac
     2701 atcagctgta caagaaaagt attctacctt cacacacaaa aagttaaaaa aaaaaaaaaa
     2761 gactattgaa ctaaaaacag tcaactgttt acgtataatg ttaaattcag gagttcagtg
     2821 ttttactaat atatcctgtt ttgaaacctc ttgttcgaaa acaaaatgtt ttgagcaatc
     2881 aaccaaaatt gttccttttc ttttcctgta gatgttctga cagatttgca gggctttcgg
     2941 ctcactgtgc tagtatgtaa aaaggtgttg tttacacgag gcaaagagaa aacatgctat
     3001 tcagacagtt gccaaataga ataattatag cacaaatact gtaaaggtgc ctggcaccag
     3061 caacctgaga aagtgttaaa aaaaaaaaaa aaaaagtgtt acaagattta aaaaaaaaca
     3121 tctttgctaa tttttttgtc ctgttgaaca ttcatggaat tgttaatatg acttatatag
     3181 acccacacag gttttatttt tgtgtcttta aaataaaagt ccaaaatatt taaattttat
     3241 ggtcaaatat gcagtcaaca gctgctactt tttctttata tattaaattt ctcatatgtc
     3301 ttttattgtt ctaataaacc taagcttgtg tgacctccag tgcatattag accattcact
     3361 gtatgaaaga aaacatgttg aataaatttg tgagttttta ataaaaatag aaaatctgat
     3421 gttta
//
