LOCUS       NM_020295               4949 bp    mRNA    linear   ROD 08-AUG-2024
DEFINITION  Mus musculus limb region 1 (Lmbr1), mRNA.
ACCESSION   NM_020295
VERSION     NM_020295.3
KEYWORDS    RefSeq; RefSeq Select.
SOURCE      Mus musculus (house mouse)
  ORGANISM  Mus musculus
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha;
            Muroidea; Muridae; Murinae; Mus; Mus.
REFERENCE   1  (bases 1 to 4949)
  AUTHORS   Ushiki,A., Zhang,Y., Xiong,C., Zhao,J., Georgakopoulos-Soares,I.,
            Kane,L., Jamieson,K., Bamshad,M.J., Nickerson,D.A., Shen,Y.,
            Lettice,L.A., Silveira-Lucas,E.L., Petit,F. and Ahituv,N.
  CONSRTM   University of Washington Center for Mendelian Genomics
  TITLE     Deletion of CTCF sites in the SHH locus alters enhancer-promoter
            interactions and leads to acheiropodia
  JOURNAL   Nat Commun 12 (1), 2282 (2021)
   PUBMED   33863876
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4949)
  AUTHORS   Williamson,I., Kane,L., Devenney,P.S., Flyamer,I.M., Anderson,E.,
            Kilanowski,F., Hill,R.E., Bickmore,W.A. and Lettice,L.A.
  TITLE     Developmentally regulated Shh expression is robust to TAD
            perturbations
  JOURNAL   Development 146 (19) (2019)
   PUBMED   31511252
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4949)
  AUTHORS   Paliou,C., Guckelberger,P., Schopflin,R., Heinrich,V., Esposito,A.,
            Chiariello,A.M., Bianco,S., Annunziatella,C., Helmuth,J., Haas,S.,
            Jerkovic,I., Brieske,N., Wittler,L., Timmermann,B., Nicodemi,M.,
            Vingron,M., Mundlos,S. and Andrey,G.
  TITLE     Preformed chromatin topology assists transcriptional robustness of
            Shh during limb development
  JOURNAL   Proc Natl Acad Sci U S A 116 (25), 12390-12399 (2019)
   PUBMED   31147463
REFERENCE   4  (bases 1 to 4949)
  AUTHORS   Symmons,O., Pan,L., Remeseiro,S., Aktas,T., Klein,F., Huber,W. and
            Spitz,F.
  TITLE     The Shh Topological Domain Facilitates the Action of Remote
            Enhancers by Reducing the Effects of Genomic Distances
  JOURNAL   Dev Cell 39 (5), 529-543 (2016)
   PUBMED   27867070
REFERENCE   5  (bases 1 to 4949)
  AUTHORS   Anderson,E., Devenney,P.S., Hill,R.E. and Lettice,L.A.
  TITLE     Mapping the Shh long-range regulatory domain
  JOURNAL   Development 141 (20), 3934-3943 (2014)
   PUBMED   25252942
REFERENCE   6  (bases 1 to 4949)
  AUTHORS   Stryke,D., Kawamoto,M., Huang,C.C., Johns,S.J., King,L.A.,
            Harper,C.A., Meng,E.C., Lee,R.E., Yee,A., L'Italien,L.,
            Chuang,P.T., Young,S.G., Skarnes,W.C., Babbitt,P.C. and Ferrin,T.E.
  TITLE     BayGenomics: a resource of insertional mutations in mouse embryonic
            stem cells
  JOURNAL   Nucleic Acids Res 31 (1), 278-281 (2003)
   PUBMED   12520002
REFERENCE   7  (bases 1 to 4949)
  AUTHORS   Horikoshi,T., Endo,N., Shibata,M., Heutink,P., Hill,R.E. and
            Noji,S.
  TITLE     Disruption of the C7orf2/Lmbr1 genic region is associated with
            preaxial polydactyly in humans and mice
  JOURNAL   J Bone Miner Metab 21 (1), 1-4 (2003)
   PUBMED   12491086
  REMARK    GeneRIF: disruption is associated with preaxial polydactyly
REFERENCE   8  (bases 1 to 4949)
  AUTHORS   Lettice,L.A., Horikoshi,T., Heaney,S.J., van Baren,M.J., van der
            Linde,H.C., Breedveld,G.J., Joosse,M., Akarsu,N., Oostra,B.A.,
            Endo,N., Shibata,M., Suzuki,M., Takahashi,E., Shinka,T.,
            Nakahori,Y., Ayusawa,D., Nakabayashi,K., Scherer,S.W., Heutink,P.,
            Hill,R.E. and Noji,S.
  TITLE     Disruption of a long-range cis-acting regulator for Shh causes
            preaxial polydactyly
  JOURNAL   Proc Natl Acad Sci U S A 99 (11), 7548-7553 (2002)
   PUBMED   12032320
REFERENCE   9  (bases 1 to 4949)
  AUTHORS   Clark,R.M., Marker,P.C., Roessler,E., Dutra,A., Schimenti,J.C.,
            Muenke,M. and Kingsley,D.M.
  TITLE     Reciprocal mouse and human limb phenotypes caused by gain- and
            loss-of-function mutations affecting Lmbr1
  JOURNAL   Genetics 159 (2), 715-726 (2001)
   PUBMED   11606546
REFERENCE   10 (bases 1 to 4949)
  AUTHORS   Clark,R.M., Marker,P.C. and Kingsley,D.M.
  TITLE     A novel candidate gene for mouse and human preaxial polydactyly
            with altered expression in limbs of Hemimelic extra-toes mutant
            mice
  JOURNAL   Genomics 67 (1), 19-27 (2000)
   PUBMED   10945466
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BB614787.1, AK030631.1,
            AK195974.1, AC159298.3 and BM898643.1.
            
            On Mar 2, 2007 this sequence version replaced NM_020295.2.
            
            Summary: This gene encodes a member of the LMBR1-like membrane
            protein family. Another member of this protein family has been
            shown to be a lipocalin transmembrane receptor. A highly conserved,
            cis-acting regulatory module for the sonic hedgehog gene is located
            within an intron of this gene. Consequently, disruption of this
            genic region can alter sonic hedgehog expression and affect limb
            patterning, but it is not known if this gene functions directly in
            limb development. [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 :: AF190665.1, SRR7974084.13559.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMN00849374,
                                           SAMN00849375 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            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
            1-88                BB614787.1         1-88
            89-264              AK030631.1         1-176
            265-968             AK030631.1         1071-1774
            969-1028            AK195974.1         160-219
            1029-2615           AK030631.1         1835-3421
            2616-4352           AC159298.3         159007-160743       c
            4353-4949           BM898643.1         1-597               c
FEATURES             Location/Qualifiers
     source          1..4949
                     /organism="Mus musculus"
                     /mol_type="mRNA"
                     /strain="C57BL/6"
                     /db_xref="taxon:10090"
                     /chromosome="5"
                     /map="5"
     gene            1..4949
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /note="limb region 1"
                     /db_xref="GeneID:56873"
                     /db_xref="MGI:MGI:1861746"
     exon            1..264
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     CDS             199..1671
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /codon_start=1
                     /product="limb region 1 protein"
                     /protein_id="NP_064691.2"
                     /db_xref="CCDS:CCDS19148.1"
                     /db_xref="GeneID:56873"
                     /db_xref="MGI:MGI:1861746"
                     /translation="MEGQDEVSAREQHFHSQVRESTICFLLFAILYIVSYFIIIRYKR
                     KSDEQEDEDAVVNRISLFLSTFTLAVSAGAVLLLPFSIISNEILLAFPHNYYIQWLNG
                     SLIHGLWNLASLFSNLCLFVLMPFAFFFLESEGFAGLKKGIRARILETLVMLLLLALL
                     ILGMVWVASALIDSDAASMESLYDLWEFYLPYLYSCISLMGCLLLLLCTPVGLSRMFT
                     VMGQLLVKPAILEDLDEQIYMITLEEEALQRRLHGLSSSVEYNVMELEQELENVKILK
                     TKLERRKKASAWERNLVYPAVMVLLLIETSISVLLVACNILCLLVDETAMPKGTRGPG
                     IGSASLSTFGFVGAALEIILIFYLMVSSVVGFYSLRFFGNFTPKKDDTTMTKIIGNCV
                     SILVLSSALPVMSRTLGITRFDLLGDFGRFNWLGNFYIVLSYNLLFAIMTTLCLIRKF
                     TSAVREELFKALGLHKLHLSDTSRDSETTKPSANGHQKAL"
     exon            265..337
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            338..377
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            378..517
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            518..621
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            622..748
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            749..817
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            818..882
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            883..955
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            956..1036
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1037..1113
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1114..1191
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1192..1265
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..1356
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1357..1423
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1424..1585
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     exon            1586..4932
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2741..2746
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /note="hexamer: AGTAAA"
     polyA_site      2762
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /note="major polyA site"
     regulatory      4909..4914
                     /regulatory_class="polyA_signal_sequence"
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /note="hexamer: ATTAAA"
     polyA_site      4932
                     /gene="Lmbr1"
                     /gene_synonym="1110048D14Rik"
                     /note="major polyA site"
ORIGIN      
        1 cgcccaggct gtggccattc cccgcctctt gtatcttgaa ccgcttctcc ctgagctcag
       61 gcggcgtttt ccgatcctgc tgcggtctag gtggcgtttc tgtccggcca cgagagactg
      121 tatagccccg ccgcccgcgg gcaatggtgc ggcggagcgc gcagacgcgg gcggccctgc
      181 ggtgggtatg aaaggaggat ggaagggcag gacgaggtgt cggcgcggga gcagcacttc
      241 cacagccaag tgcgagagtc cacgatatgt tttcttctct ttgccattct ctacatcgtt
      301 tcctacttca tcattataag atacaagaga aaatccgatg aacaagaaga tgaggatgct
      361 gtagtcaaca ggatatcgtt gtttctgagc accttcactc tagccgtgtc agctggcgcg
      421 gttttgcttt tacccttctc aatcatcagc aatgagatcc tgcttgcttt tcctcacaac
      481 tactatattc agtggctgaa tggctccctc atccacggtt tgtggaatct tgcttcttta
      541 ttttccaatc tttgtttatt tgtgttgatg ccctttgcct ttttctttct ggaatcagaa
      601 ggttttgcag gcctgaaaaa gggaatccga gcccgcattt tggaaactct ggttatgctg
      661 ctgcttcttg cgttgctgat tcttgggatg gtgtgggtgg cttccgccct gattgacagt
      721 gatgctgcca gtatggagtc tttatatgat ctctgggaat tctacttgcc ctatttgtat
      781 tcttgcattt cgctgatggg atgcttgctg cttctcttgt gtactccagt tggcctgtcc
      841 cgtatgttca cagtcatggg tcagttgctg gtgaagccag cgattcttga agacctggat
      901 gaacaaattt atatgattac tctagaagaa gaagcactcc agagaagact acatgggcta
      961 tcttcatcgg tggagtacaa tgtaatggaa ttggagcaag aacttgagaa tgtaaagatc
     1021 cttaagacaa aattagagag gaggaaaaag gcttcagctt gggagagaaa tttggtgtat
     1081 cctgctgtta tggttctcct tcttattgaa acatccattt cagtcctcct ggtggcgtgc
     1141 aatattcttt gcctgctggt tgatgagact gcaatgccaa agggaacaag gggccccggc
     1201 ataggaagtg cctctctttc cacttttggc tttgtgggag ctgcacttga aatcattctg
     1261 attttctatc tcatggtgtc ttctgttgtt ggtttctata gcctcagatt ttttggaaac
     1321 tttacaccca agaaggatga cacaactatg acaaagatca ttgggaattg tgtgtcaatc
     1381 ttagtcttga gctctgcttt gcctgtgatg tccagaacac tgggaatcac tagattcgat
     1441 ctacttggag actttggaag atttaattgg ctgggaaatt tctatattgt attatcctac
     1501 aatttactct tcgccatcat gacaacattg tgtttgatca gaaaattcac atcagcagta
     1561 cgagaagaac ttttcaaggc cctaggactt cacaaacttc acttgtcaga tacctcaagg
     1621 gattcagaaa ctacaaagcc ttctgcaaat gggcatcaga aagcactgtg agacctgact
     1681 gcctcagtag cactctacag caagtcccga caactgattc atgacattcc catagacagt
     1741 gttcattctg gtgggtctgg acccagctga cagtgccctt tcgcataagc acttacaact
     1801 tagcactagt catctgtgtc tcctgggagt tttctgattg gccggatatg acagcttttg
     1861 gttaaaccct gagtcttgag actgaggaaa agctgtgtgt ctatagcagg aactacctgg
     1921 atgagaggtg aagactcgga cgcccttagg cttttgcttt acaccatgag aagcttggtt
     1981 ctgcaggcag aagcctgcct gaaagtcatc tggtgcccca aagcattttc acaaggtcct
     2041 ggaaactgtt gtacaagtaa caaactacat ttttatttaa aaaaccaaaa gcagattttc
     2101 tgattcatct tacagaatct tcattagact ttgagccagt ggaacatact agattcttta
     2161 aacacctgag ccttggtggg cagccccagg actatttttt tgtggtaagc tgcagtatga
     2221 agcacatgcg attgtagatt tggacagtgt gtgtacctga taatactttt cacagcacag
     2281 tgccagtgtt gtacacacct tagactttgc cttataggct gtatgtacat tcatttttta
     2341 aaaccttttt ttcaaaaact actccactct gtgcttgttg tatgtgtgta acccaaagac
     2401 agaaattgct ttttcaggct tcggtgcctc tcatacacca ccttaagtct ccaccccagg
     2461 aaggttacca gtgtgatacc cagaacttac aggtcagggt ctccacagaa gggcaggtgc
     2521 agcaggtgca gctcataact aatatgagct cataactact tagttgttta gtttaattgt
     2581 tggaatggtt tctcaactcc tgagtctact gatttaaaaa aaaaaaaaaa aactgagcgc
     2641 atgctattgt tgttcctagg tagcacacat ttcacagaaa tatagtgatg ctcacatgca
     2701 ctgtatggat gacataacag gatttgtgtt cagaaaaaga agtaaagcac ttttttctca
     2761 aattgttgaa tttagtttct tttggagaca tatatgaaag gctgtatctg acctttattt
     2821 aatcttagaa aaccaagaag atttagctct atgtttataa gccattgagt ccacatcttt
     2881 atttacacca tggcatcccc tgatactcca ggttagtttt aaggaaactt ggtgctgtgg
     2941 ctctgagtgg gtcagtgtgt acctccagtg agtattgata gattcccgag tgtgagctcc
     3001 tgcgctagca cagtgcgagt tggctatttc cgatttacct ggtcattaat gacaggctct
     3061 gaagcagagc aagtcaggga gaggtcagag ttttctgctg cagtcacttc ggtgcacacc
     3121 atttgccaac aaccaaacag agctctgcaa ggtaaggtgt ctgaaaattt tcataaaata
     3181 ctgaactttt caatgtctgt ctctaatttt cttaatgagt gtctatatgt gaggggggag
     3241 ggagggaaag agagacagac gggcagatag acagaaacat gggggcaggc attaatgagt
     3301 aaagatctaa aggacagctt tcagtagtca gctctttcct ttcacatgtg tgattcaggt
     3361 acctttacct gctgagcaag tcctaaactt cttattcatt tggaggttct taatttgaag
     3421 atgggatcca ggtttggact gactggagat atttggtgat gagatggaag tgggctttaa
     3481 ggattgtctt accttgattc ttgggccttc tgtggttgat gcactgcgtg gtcaccaccc
     3541 tttgagggtc actggtcact cacctgagag ttgcctggag ggagggactg gttccaggtg
     3601 ccatcacttc actgggcatg tgctagaggc tggctgatac agaacttcac gaaaggacag
     3661 cagcatgctg aggcttcata ttccaagttc gtgaagacag ttatatgcag gagtcctgca
     3721 ttgcagtgct gttttacaga gtgcagaaag ctctgcagac aagagctccc attcacacta
     3781 gtcatggcac tctagttttg actagatgag gttgcaccag tgactctgtt gagtagtcct
     3841 tttgttctct taccttgaat gtcctcttta aacgggcatg aaactgggca tggtagtgtt
     3901 ttccttatag cactcaagtg gcagaggcag aaggatccct aagaatttga accagactag
     3961 gttacatagt gagttccagg caagccagtg ctacatagtg aaactgtctc tcaaaagaaa
     4021 caaacataca aacgaaagca aaaagaggaa atgagggttg gaggtggaat ggctggagag
     4081 atggctcagc agttaaagag cactagcttt gctttcagag gactcagatt tggttcttag
     4141 catccacatg gtggttcaca gtcatcagtg actctagtcc caggggatta aatacccttt
     4201 cagacctcca tgggcactga ctgcaggcac atggtgaagg aaaaacactt ccatacataa
     4261 aaataattac tacaatttaa gctaaaaggg caccaaacac tttatagatc ttgatgagag
     4321 gctatatcaa attttataca ttgtgacacc ggttttttat agattttcta gcatatattt
     4381 tagatctatt tatcatctat ctatctatct atctatctat ctttctatca tctatcttat
     4441 ataaaataaa gtctgaccta aatatgagac cctgtatggt tgtctaaaaa catactgtta
     4501 gctccttcag tcacacctgt ttggggctgg ctggtgaatc agaaggaacc ttgttgggtc
     4561 tgctgctcac cacctatggg gctgtgggca tggtggcagc agcagttgtt gccacttctg
     4621 ctttggccaa gcacagtagg tgatcctgat agtcagcagc acagattccc attgattcta
     4681 gtctatgtat ttgcttatgg ttggtacaat atttaatgta tataggcaga agtattatag
     4741 ggtctttaaa tatgtgaaca tatgtagcac tgcttttaaa cttaaaacgg atatgatatt
     4801 tttcatatgt caagacacac tggtaaattt ctgttacata ttgttttcaa gttttctgtt
     4861 agtcttgttt ctatgaggta cttttattgt aacttaaaat tcttagaaat taaagttctg
     4921 agaaaaacct taaaaaaaaa aaaaaaaaa
//
