LOCUS       NM_001040616            4755 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens lines homolog 1 (LINS1), transcript variant 1, mRNA.
ACCESSION   NM_001040616
VERSION     NM_001040616.3
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 4755)
  AUTHORS   Chen,C.H., Huang,Y.S. and Fang,T.H.
  TITLE     Identification of a novel nonsense homozygous mutation of LINS1
            gene in two sisters with intellectual disability, schizophrenia,
            and anxiety
  JOURNAL   Biomed J 44 (6), 748-751 (2021)
   PUBMED   34450347
  REMARK    GeneRIF: Identification of a novel nonsense homozygous mutation of
            LINS1 gene in two sisters with intellectual disability,
            schizophrenia, and anxiety.
REFERENCE   2  (bases 1 to 4755)
  AUTHORS   Zhang,X., Pan,L. and Shen,G.
  TITLE     [Identification of LINS1 gene variant in a patient with severe
            mental retardation]
  JOURNAL   Zhonghua Yi Xue Yi Chuan Xue Za Zhi 37 (1), 57-59 (2020)
   PUBMED   31922598
  REMARK    GeneRIF: A novel pathogenic variant of the LINS1 gene has been
            identified in a child with idiopathic mental retardation
REFERENCE   3  (bases 1 to 4755)
  AUTHORS   Sheth,J., Ranjan,G., Shah,K., Bhavsar,R. and Sheth,F.
  TITLE     Novel LINS1 missense mutation in a family with non-syndromic
            intellectual disability
  JOURNAL   Am J Med Genet A 173 (4), 1041-1046 (2017)
   PUBMED   28181389
REFERENCE   4  (bases 1 to 4755)
  AUTHORS   Akawi,N.A., Al-Jasmi,F., Al-Shamsi,A.M., Ali,B.R. and Al-Gazali,L.
  TITLE     LINS, a modulator of the WNT signaling pathway, is involved in
            human cognition
  JOURNAL   Orphanet J Rare Dis 8, 87 (2013)
   PUBMED   23773660
  REMARK    GeneRIF: Study confirms that LINS, a modulator of the WNT pathway,
            is an indispensable gene to human cognition and this finding sheds
            further light on the importance of WNT signaling in human brain
            development and/or function.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4755)
  AUTHORS   Abou Jamra,R., Wohlfart,S., Zweier,M., Uebe,S., Priebe,L.,
            Ekici,A., Giesebrecht,S., Abboud,A., Al Khateeb,M.A., Fakher,M.,
            Hamdan,S., Ismael,A., Muhammad,S., Nothen,M.M., Schumacher,J. and
            Reis,A.
  TITLE     Homozygosity mapping in 64 Syrian consanguineous families with
            non-specific intellectual disability reveals 11 novel loci and high
            heterogeneity
  JOURNAL   Eur J Hum Genet 19 (11), 1161-1166 (2011)
   PUBMED   21629298
REFERENCE   6  (bases 1 to 4755)
  AUTHORS   Katoh,M.
  TITLE     Molecular cloning and characterization of human WINS1 and mouse
            Wins2, homologous to Drosophila segment polarity gene Lines (Lin)
  JOURNAL   Int J Mol Med 10 (2), 155-159 (2002)
   PUBMED   12119551
  REMARK    GeneRIF: Human WINS1 encoded 757 AA protein. Human WINS1 mRNA was
            expressed in adult testis, prostate, spleen, thymus, skeletal
            muscle, fetal kidney & brain. This is the first report on molecular
            cloning & initial characterization of human WINS1.
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC090695.14 and AC027020.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_001040616.2.
            
            Summary: The Drosophila segment polarity gene lin encodes a
            protein, lines, which plays important roles in development of the
            epidermis and hindgut. This gene encodes a protein containing a
            lines-like domain. This gene is located on chromosome 15 and
            clustered with the gene encoding ankyrin repeat and SOCS
            box-containing protein 7. Alternative splicing results in multiple
            transcript variants. [provided by RefSeq, Jun 2017].
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR14038197.877853.1,
                                           SRR18074967.1703919.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000314742.13/ ENSP00000318423.8
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-64                AC090695.14        46945-47008         c
            65-566              AC090695.14        25268-25769         c
            567-656             AC090695.14        25087-25176         c
            657-798             AC027020.12        527-668
            799-1389            AC027020.12        1414-2004
            1390-1561           AC027020.12        3590-3761
            1562-4755           AC027020.12        5538-8731
FEATURES             Location/Qualifiers
     source          1..4755
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q26.3"
     gene            1..4755
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /note="lines homolog 1"
                     /db_xref="GeneID:55180"
                     /db_xref="HGNC:HGNC:30922"
                     /db_xref="MIM:610350"
     exon            1..64
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /inference="alignment:Splign:2.1.0"
     exon            65..566
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /inference="alignment:Splign:2.1.0"
     CDS             168..2441
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /note="isoform 1 is encoded by transcript variant 1; WINS1
                     protein with Drosophila Lines (Lin) homologous domain;
                     protein Lines homolog 1; wnt-signaling molecule Lines
                     homolog 1"
                     /codon_start=1
                     /product="protein Lines homolog 1 isoform 1"
                     /protein_id="NP_001035706.2"
                     /db_xref="CCDS:CCDS10385.1"
                     /db_xref="GeneID:55180"
                     /db_xref="HGNC:HGNC:30922"
                     /db_xref="MIM:610350"
                     /translation="MKVFCEVLEELYKKVLLGATLENDSHDYIFYLNPAVSDQDCSTA
                     TSLEWANTCGIQGRHQPISVGVAPIAVAPVCLKTNSQMSGSREVMLLQLTVIKVMTTR
                     ILSVKTEFHAKEQYRDVIKILLESAKVDSKLICMFQNSDKLLSHMAAQCLALLLYFQL
                     REKITLSNSWIAFCQKNLSEYSESNKAIYCLWTLTAIIKEIFKDSCSQKTEILKQFLT
                     HFDTIFEVFYNSLFSQHFENCRDTSKIVNILMCFLDLLELLIASRIHLKLHFTCQRIL
                     FLKPSCMLEVITWPIQAFVKRKVIIFLKKCLLCKVGEDLCRGSVPALMPPDHHVAVDM
                     LALANAVLQAVNSGLLKTLSVYEKHSFFGGDEVQPECELITSPDHVILRAASLVIMKS
                     LEIKFQNYSSASEVKVDLQRFMSELLTFLKPHLQPSLQLHNPCKWLSRVFIEQDDDML
                     EAAKASLGIYLTLTRGCEATESLTQGKEMWDHHTHENGYNPHCIFLFFLKNIGFDSTV
                     LLDFLISSETCFLEYFVRYLKLLQKDWDNFFTICNNFDATESKYDISICGCVPSLVQD
                     QSSNQTIPHRLTAPHSHRDVCARHSWASDAPSEPLKAVMSKGAHTMCASSLSSPRASQ
                     SLVDYDSSDDSDVESTEQCLANSKQTSLHQQATKEIQDAAGTSRDKKEFSLEPPSRPL
                     VLKEFDTAFSFDCEVAPNDVVSEVGIFYRIVKCFQELQDAICRLQKKNLFPYNPTALL
                     KLLKYIEVISNKTMNTL"
     exon            567..656
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /inference="alignment:Splign:2.1.0"
     exon            657..798
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /inference="alignment:Splign:2.1.0"
     exon            799..1389
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1390..1561
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /inference="alignment:Splign:2.1.0"
     exon            1562..4755
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2418..2423
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /note="hexamer: AATAAA"
     polyA_site      2443
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /note="major polyA site"
     regulatory      4729..4734
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
                     /note="hexamer: CATAAA"
     polyA_site      4755
                     /gene="LINS1"
                     /gene_synonym="LINS; MRT27; WINS1"
ORIGIN      
        1 agagcgggca tttgtgttcc ctcaaatggc ggtgtgaaga gagttcgcct gagccagatc
       61 ccaggtttca ctgaagaaac ttcttagaga ttcattgcac ttctgagatt taatgtttac
      121 aacttggagt tgtcgacctt cttataagat acattttgga agtcaaaatg aaagttttct
      181 gtgaagtttt agaagagtta tacaagaagg tacttcttgg agccacactt gaaaatgaca
      241 gccatgatta catcttttat ctcaacccag cagtttcaga tcaagattgt tctacagcca
      301 cctccttaga atgggcaaac acctgtggta tccagggcag gcatcagccc atctctgttg
      361 gtgtggctcc cattgctgta gcacctgtgt gtttgaagac caactctcag atgagcggtt
      421 ccagagaagt aatgctcctt cagttaacag tgatcaaagt gatgacaacc cggatattgt
      481 ctgtcaaaac cgagttccat gcaaaggagc agtacagaga tgtaattaaa attctcttag
      541 aatcagccaa agtcgattct aaattaatct gcatgttcca aaattcagat aaattgttat
      601 ctcacatggc tgcacagtgc cttgcattgc ttctatattt ccaattgaga gaaaagataa
      661 ccttaagtaa ttcctggatt gctttttgcc agaaaaatct ttctgaatac tctgagagta
      721 ataaagcaat atactgcctc tggactctta cagcaataat aaaagaaatc tttaaagatt
      781 catgttcaca gaaaacagaa attctaaagc agttcctgac tcatttcgac accatttttg
      841 aagtgtttta caattcctta ttctctcagc attttgaaaa ctgccgggat acttctaaaa
      901 tagtaaacat cctgatgtgt ttcctggatt tgcttgagct tctcatcgcc tccagaatcc
      961 acctgaagtt acatttcact tgccagagga ttttattttt gaaaccatct tgcatgctag
     1021 aagttattac ctggcctatt caggcttttg ttaaaaggaa ggtcatcata ttcctcaaaa
     1081 agtgccttct ctgtaaagtg ggtgaagacc tctgtcgtgg atctgtgcct gccttaatgc
     1141 cgccagacca tcatgtagcg gtggacatgc tggctttagc taatgctgtt ttgcaagctg
     1201 tgaattcggg gttgttgaag acactgtctg tttatgaaaa acattccttt tttggaggtg
     1261 atgaagttca acctgaatgt gaacttatca ctagtccaga tcatgtgatc cttagagcag
     1321 caagcttagt tataatgaaa tccttagaaa tcaagtttca aaattattct tcagcaagtg
     1381 aagtgaaagt tgacttacag aggttcatgt ctgagttact gaccttctta aagcctcatc
     1441 ttcagccctc tctgcaatta cacaatccgt gcaaatggct gtctcgggtt ttcatagaac
     1501 aagacgatga catgctggag gctgccaagg catcactggg catctactta acactgacca
     1561 gaggatgtga agccactgaa agcttgactc agggaaaaga aatgtgggac catcacacac
     1621 atgaaaatgg ctataatcct cactgtattt tcttgttctt cttgaaaaat ataggatttg
     1681 attccacagt tcttcttgac tttttgattt catcagaaac ctgttttctt gaatattttg
     1741 ttagatattt aaaattactg caaaaggact gggataattt tttcaccatt tgcaataact
     1801 ttgatgcaac tgaatctaaa tatgacataa gtatttgtgg ctgtgtcccc tcacttgtcc
     1861 aagaccaaag ctccaaccaa acaatacccc atcgtttgac tgctcctcat agtcacagag
     1921 atgtgtgtgc tcggcactcc tgggcttccg atgctccctc tgaaccactg aaagctgtga
     1981 tgtccaaggg ggctcacacc atgtgtgctt ctagtctgtc ttccccccgg gcctctcaaa
     2041 gtctggtaga ttacgacagc tctgacgatt ctgacgtgga atccacagag cagtgtttag
     2101 ctaacagtaa acagacatct ttacaccagc aagcaactaa ggagattcag gatgcagctg
     2161 ggacaagcag ggataaaaaa gaatttagcc ttgagcctcc atcaaggcct ctggttctga
     2221 aagaatttga tactgccttc tcctttgatt gtgaagtagc cccaaatgat gtcgtctctg
     2281 aagtgggaat attttacaga atagtaaaat gcttccagga actacaagat gccatctgcc
     2341 gtttgcaaaa gaaaaatctt ttcccatata atccaactgc acttttgaag ttgttaaaat
     2401 acatagaggt gataagtaat aaaactatga acactttgta aaacattgac attttatttt
     2461 ccaggtattg tttttcctta atataaatta tgtctcaatg aggtaatagt ataaaatcat
     2521 caccataaaa gggttttctt tttttttttt ttttttgaga cagaatctca ttctgtcgct
     2581 caggccggag tgcagtggcg tgactcgact cactgcaacc tccacctcct gggttcaagc
     2641 aattctcctg cctcagtctc ccgagtagct ggaattacag gtgcccgcca ccacgcccag
     2701 ctaatttttg tatttttagt agagacgggg gtttcaccat gttgccaggc tggtctcaaa
     2761 ctcctgacct caagtgatcc gcctgtccgc cctcccgaag tgctgggatt acaggcatga
     2821 gccactgtgc ccggctgggt tttctagaca agttcttact ttttgcctta ttggaagcaa
     2881 cctagtgact gaaaaagaga catcaagtga caagtcactc attatagcta tataccactg
     2941 gagatttatg gcagttctaa gtgacacaaa atcgggggtg gtgattgcgt tcctcagcta
     3001 gggctgccgt aacaacttgc cacgtgtgcc gcagcttcag acacctggaa ttatcctcat
     3061 agttttggag gccagaatcc aaactcaggc ttcagcaggg caatgccctc agggtctgga
     3121 gaagaatccc accctgcccc tttctggctt ctggtggcag ccagccagcc atggtgtccc
     3181 ttgtcttgta gtggcgtcac tccagttcct gcctcacatg gcattttcct gtgtctgtgt
     3241 ccagtttccc tcctacaagg acatcggtca ttggactagg acctaccctc atccagtatg
     3301 atctcaactt gatgacagct gcaaagaccc taatcccaga tatggccact ttcatgtgtc
     3361 cttgatggac ttgaatccag gagagtcact aaccaaatac agttactatt tccttctggg
     3421 gtatttacac agaaagcgat atattacaaa tgtaaaatct tagccgtttc tttgagaagt
     3481 gattatacct ggcctactgt atgaacatga ttctttctaa aaaaaaattt aatcactaat
     3541 tttcctattt aaaattgtga catgaataat tatgttccat attcttgagg ggaagccgta
     3601 aattccattg taatatgttt gtgtaatagg agcaatagct atattgtgct gcgaagtctg
     3661 gcattaaggc agtctaaaat attgcctgta catttttttt taatgatctc tttgcagaga
     3721 aacagaacaa agactaaacc taccgcacat taaaatatat attaaggcta tggtattcga
     3781 aacagtttag tacttaattc aggtagacat ggaaaaatca gtggagctaa atagaaggtt
     3841 gccgattaaa ataacagcga agtaccagtg ttagccaaat agcaatgcaa aggtcaaaag
     3901 gtttgcgttt taacatgctg tcggtgaggc tatgcgttaa ggcagtttct accgtaattg
     3961 aaaaagcacg tcaaagaatg tgtattcaag gatgccacat agtttgtaaa aaatgttaag
     4021 gttttagagt tttactagaa atacctggta aagtaagtca gaatttgtat agtcagtgga
     4081 atggtagatg cgttctatgc acgtttgtgg atgtgaaaca tctccagtaa aaaacaagta
     4141 aatacatggg gcttgcaatt atttagggaa agaagcaggg cgggagtaat acacattcat
     4201 atatatgctt ttgtgcatgt ataaaatatg tatgtaagac tacataagaa agtcataata
     4261 gtggttgcct tgggagacag gtctgatgtg gaagacaaag tctcatcttt ttgtactatt
     4321 tttagtggga tacatgcagc actgcattag gatgtttcaa taacagacca catagtacag
     4381 tggtcccata agactatcaa gccgttattt ttactgtgac tgtcctatgt ttaggcatgt
     4441 ttagatacac gcatacttac tattgtgtta cagttgccta cagtattcag tacagtaaca
     4501 tgctgtgtac aggtttgtag cctaggagca atgggctata ccatatagcc taggtgtgta
     4561 gtaggctatg ccatctaggt ttgttgagta tactctgtga catacatgac atgacaacaa
     4621 aattgcctta cagctcattt ctcagaacat gtccctgtca tgtgacacat ggctgttttt
     4681 tgatggaaat aactgggaaa aaaaaatcga ctcttgttcc taagggtaca taaatgttga
     4741 atgcattata actca
//
