LOCUS       NM_198506               3661 bp    mRNA    linear   PRI 03-OCT-2024
DEFINITION  Homo sapiens leucine rich repeat, Ig-like and transmembrane domains
            3 (LRIT3), mRNA.
ACCESSION   NM_198506 XM_293725
VERSION     NM_198506.5
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 3661)
  AUTHORS   Dan,H., Song,X., Li,J., Xing,Y. and Li,T.
  TITLE     Mutation screening of the LRIT3, CABP4, and GPR179 genes in Chinese
            patients with Schubert-Bornschein congenital stationary night
            blindness
  JOURNAL   Ophthalmic Genet 38 (3), 206-210 (2017)
   PUBMED   27428514
  REMARK    GeneRIF: In this study, a novel compound heterozygous mutation,
            c.[1A>G]; [608G>T] (p.[0?]; p.[W203L]), was identified in the LRIT3
            gene of a proband. No mutations were identified in the CABP4 or
            GPR179 gene.
REFERENCE   2  (bases 1 to 3661)
  AUTHORS   Neuille,M., Cao,Y., Caplette,R., Guerrero-Given,D., Thomas,C.,
            Kamasawa,N., Sahel,J.A., Hamel,C.P., Audo,I., Picaud,S.,
            Martemyanov,K.A. and Zeitz,C.
  TITLE     LRIT3 Differentially Affects Connectivity and Synaptic Transmission
            of Cones to ON- and OFF-Bipolar Cells
  JOURNAL   Invest Ophthalmol Vis Sci 58 (3), 1768-1778 (2017)
   PUBMED   28334377
  REMARK    GeneRIF: LRIT3 is likely involved in coordination of the
            transsynaptic communication between cones and ON-BCs during synapse
            formation and
REFERENCE   3  (bases 1 to 3661)
  AUTHORS   Zeitz,C., Jacobson,S.G., Hamel,C.P., Bujakowska,K., Neuille,M.,
            Orhan,E., Zanlonghi,X., Lancelot,M.E., Michiels,C., Schwartz,S.B.,
            Bocquet,B., Antonio,A., Audier,C., Letexier,M., Saraiva,J.P.,
            Luu,T.D., Sennlaub,F., Nguyen,H., Poch,O., Dollfus,H., Lecompte,O.,
            Kohl,S., Sahel,J.A., Bhattacharya,S.S. and Audo,I.
  CONSRTM   Congenital Stationary Night Blindness Consortium
  TITLE     Whole-exome sequencing identifies LRIT3 mutations as a cause of
            autosomal-recessive complete congenital stationary night blindness
  JOURNAL   Am J Hum Genet 92 (1), 67-75 (2013)
   PUBMED   23246293
  REMARK    GeneRIF: The exact role of this LRR protein in cCSNB remains to be
            elucidated.
REFERENCE   4  (bases 1 to 3661)
  AUTHORS   Kim,S.D., Liu,J.L., Roscioli,T., Buckley,M.F., Yagnik,G.,
            Boyadjiev,S.A. and Kim,J.
  TITLE     Leucine-rich repeat, immunoglobulin-like and transmembrane domain 3
            (LRIT3) is a modulator of FGFR1
  JOURNAL   FEBS Lett 586 (10), 1516-1521 (2012)
   PUBMED   22673519
REFERENCE   5  (bases 1 to 3661)
  AUTHORS   Kalsi,G., Kuo,P.H., Aliev,F., Alexander,J., McMichael,O.,
            Patterson,D.G., Walsh,D., Zhao,Z., Schuckit,M., Nurnberger,J. Jr.,
            Edenberg,H., Kramer,J., Hesselbrock,V., Tischfield,J.A.,
            Vladimirov,V., Prescott,C.A., Dick,D.M., Kendler,K.S. and
            Riley,B.P.
  TITLE     A systematic gene-based screen of chr4q22-q32 identifies
            association of a novel susceptibility gene, DKK2, with the
            quantitative trait of alcohol dependence symptom counts
  JOURNAL   Hum Mol Genet 19 (12), 2497-2506 (2010)
   PUBMED   20332099
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
            Erratum:[Hum Mol Genet. 2010 Oct 15;19(20):4121. Hesselbrock,
            Victor [added]; Tischfield, Jay A [added]]
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC126283.3, JQ354981.1,
            DT932743.1, AC005509.1, BC104037.2 and BM665581.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_198506.4.
            
            Summary: This gene encodes a protein that has a fibronectin type
            III domain and a C-terminal transmembrane domain, as well as a
            leucine-rich repeat domain and immunoglobulin-like domain near the
            N-terminus. The encoded protein may regulate fibroblast growth
            factor receptors and affect the modification of these receptors,
            which are glycosylated differently in the Golgi and endoplasmic
            reticulum. Mutations in this gene are associated with congenital
            stationary night blindness, type 1F. [provided by RefSeq, May
            2013].
            
            Sequence Note: This RefSeq record was created from partial
            transcripts and genomic sequence data because no single transcript
            was available for the full length of the gene. The extent of this
            transcript is supported by orthologous alignment from mouse
            (NP_001192031.1).
            
            ##Evidence-Data-START##
            RNAseq introns :: mixed sample support SAMEA1968540, SAMEA1968968
                              [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000594814.6/ ENSP00000469759.1
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-95                AC126283.3         116305-116399
            96-345              JQ354981.1         1-250
            346-618             DT932743.1         106-378
            619-619             AC005509.1         3467-3467
            620-1550            BC104037.2         204-1134
            1551-3258           AC005509.1         21761-23468
            3259-3661           BM665581.1         18-420              c
FEATURES             Location/Qualifiers
     source          1..3661
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q25"
     gene            1..3661
                     /gene="LRIT3"
                     /gene_synonym="CSNB1F; FIGLER4"
                     /note="leucine rich repeat, Ig-like and transmembrane
                     domains 3"
                     /db_xref="GeneID:345193"
                     /db_xref="HGNC:HGNC:24783"
                     /db_xref="MIM:615004"
     exon            1..211
                     /gene="LRIT3"
                     /gene_synonym="CSNB1F; FIGLER4"
                     /inference="alignment:Splign:2.1.0"
     CDS             96..2135
                     /gene="LRIT3"
                     /gene_synonym="CSNB1F; FIGLER4"
                     /note="fibronectin type III, immunoglobulin and leucine
                     rich repeat domains 4; leucine-rich repeat,
                     immunoglobulin-like domain and transmembrane
                     domain-containing protein 3; leucine-rich repeat,
                     immunoglobulin-like and transmembrane domains 3"
                     /codon_start=1
                     /product="leucine-rich repeat, immunoglobulin-like domain
                     and transmembrane domain-containing protein 3 precursor"
                     /protein_id="NP_940908.3"
                     /db_xref="CCDS:CCDS3688.3"
                     /db_xref="GeneID:345193"
                     /db_xref="HGNC:HGNC:24783"
                     /db_xref="MIM:615004"
                     /translation="MHLFACLCIVLSFLEGVGCLCPSQCTCDYHGRNDGSGSRLVLCN
                     DMDMNELPTNLPVDTVKLRIEKTVIRRISAEAFYYLVELQYLWVTYNSVASIDPSSFY
                     NLKQLHELRLDGNSLAAFPWASLLDMPLLRTLDLHNNKITSVPNEALRYLKNLAYLDL
                     SSNRLTTLPPDFLESWTHLVSTPSGVLDLSPSRIILGLQDNPWFCDCHISKMIELSKV
                     VDPAIVLLDPLMTCSEPERLTGILFQRAELEHCLKPSVMTSATKIMSALGSNVLLRCD
                     ATGFPTPQITWTRSDSSPVNYTVIQESPEEGVRWSIMSLTGISSKDAGDYKCKAKNLA
                     GMSEAVVTVTVLGITTTPIPPDTSERTGDHPEWDVQPGSGRSTSVSSASSYLWSSSFS
                     PTSSFSASTLSPPSTASFSLSPFSSSTVSSTTTLSTSISASTTMANKRSFQLHQGGKR
                     NLKVAKNGSKLPPASTSKKEELALLDQTMLTETNAAIENLRVVSETKESVTLTWNMIN
                     TTHNSAVTVLYSKYGGKDLLLLNADSSKNQVTIDGLEPGGQYMACVCPKGVPPQKDQC
                     ITFSTERVEGDDSQWSLLLVVTSTACVVILPLICFLLYKVCKLQCKSEPFWEDDLAKE
                     TYIQFETLFPRSQSVGELWTRSHRDDSEKLLLCSRSSVESQVTFKSEGSRPEYYC"
     exon            212..684
                     /gene="LRIT3"
                     /gene_synonym="CSNB1F; FIGLER4"
                     /inference="alignment:Splign:2.1.0"
     exon            685..990
                     /gene="LRIT3"
                     /gene_synonym="CSNB1F; FIGLER4"
                     /inference="alignment:Splign:2.1.0"
     exon            991..3661
                     /gene="LRIT3"
                     /gene_synonym="CSNB1F; FIGLER4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2370..2375
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRIT3"
                     /gene_synonym="CSNB1F; FIGLER4"
                     /note="hexamer: AATAAA"
     polyA_site      2397
                     /gene="LRIT3"
                     /gene_synonym="CSNB1F; FIGLER4"
                     /note="major polyA site"
     regulatory      3037..3042
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRIT3"
                     /gene_synonym="CSNB1F; FIGLER4"
                     /note="hexamer: GATAAA"
     polyA_site      3061
                     /gene="LRIT3"
                     /gene_synonym="CSNB1F; FIGLER4"
                     /note="major polyA site"
     regulatory      3642..3647
                     /regulatory_class="polyA_signal_sequence"
                     /gene="LRIT3"
                     /gene_synonym="CSNB1F; FIGLER4"
                     /note="hexamer: AATAAA"
     polyA_site      3661
                     /gene="LRIT3"
                     /gene_synonym="CSNB1F; FIGLER4"
                     /note="major polyA site"
ORIGIN      
        1 gttactaaat ggctgtttgt attccaggca taccaggttc tgaatgctta ggattcggtt
       61 tttacctttt gtttaaataa cctctaaaag gagcaatgca tctctttgca tgtctgtgca
      121 ttgtccttag ctttttggaa ggagtgggct gtttgtgtcc ttcacagtgc acctgtgatt
      181 atcacggcag aaatgacggc tcaggatcaa ggttggtgct atgtaatgac atggatatga
      241 acgagctgcc tacgaacctc cccgtggaca ctgtgaagct tcgcatagag aagactgtca
      301 tccgcagaat ctctgcggag gccttctatt acctggtgga gctccagtat ctctgggtga
      361 cttacaattc cgtggccagc attgacccca gcagctttta caacctgaag caactgcatg
      421 agttgcgctt ggatgggaat tctctggctg ctttcccttg ggcatctctg ctggacatgc
      481 cccttctgag gaccctggac ttgcacaata acaaaataac cagtgtgcca aatgaggcgc
      541 tcaggtatct gaagaacctt gcctacttgg atttatcaag caacagactc accacattgc
      601 caccagattt cctggagagc tggactcatt tagtttcaac accttctgga gtcctggacc
      661 tttccccaag caggattatt cttggtctac aggacaatcc ttggttctgt gactgtcata
      721 tttccaaaat gattgagttg tcaaaggtcg ttgaccctgc tatagtgctt ctggatccac
      781 tgatgacttg cagtgaacct gagcgcctca caggaatttt gtttcagcgg gctgaattgg
      841 agcattgtct gaaaccatca gtgatgacct cagccaccaa aatcatgtct gctctgggca
      901 gtaatgttct actgcggtgt gatgccactg gcttccccac cccacagatc acatggacca
      961 gatctgacag ctcgccagtt aattatacag taatacaaga atctccagag gaaggagtca
     1021 gatggtccat aatgagcttg acaggcattt cttccaaaga cgctggggat tacaaatgta
     1081 aggccaaaaa tctggctggg atgtcagaag ctgtggttac tgtgacagtg cttggcatta
     1141 ccacaactcc aataccacca gacacttctg aaagaactgg agatcatcct gagtgggatg
     1201 tccagccggg atctggaaga tctacatctg tatctagcgc atcatcatat ctttggtcct
     1261 cttccttctc ccccacatct tctttttctg cttctacttt gtctcctccc tctactgctt
     1321 ccttctcttt atctcctttc tcctcctcca ctgtttcttc aaccacaact ctgagcacaa
     1381 gcatctcagc aagtaccacc atggccaaca agcgatcatt ccagctccac caaggtggga
     1441 aaagaaattt aaaggtggca aagaatggaa gtaagcttcc tccagccagc acaagtaaga
     1501 aagaagagct ggcattgttg gatcaaacaa tgcttacgga gacaaatgcc gcaatagaaa
     1561 acctcagggt ggtcagtgag actaaagaga gtgtgacatt gacgtggaat atgatcaaca
     1621 ccacacataa ctctgcagtg actgtgttgt attccaagta tggtgggaag gacctgctgc
     1681 tgttgaatgc agactccagc aagaaccaag taaccataga tggcttggaa cccggtgggc
     1741 aatacatggc ctgtgtctgt ccaaaaggag tgcctcccca gaaagaccaa tgcatcacct
     1801 tttctactga aagagttgaa ggagatgatt ctcaatggtc tctccttctc gtggtgacca
     1861 gtactgcctg tgttgttatc ttaccattga tttgtttctt gttgtacaaa gtttgcaaac
     1921 tgcaatgtaa atcagaacct ttttgggaag atgatttggc aaaggagact tatatccaat
     1981 ttgagaccct gtttcccagg tctcaaagtg taggtgagct ctggacacga agccacaggg
     2041 atgactcaga gaaattgctg ctttgttcta ggtcaagtgt ggaatctcag gtgactttta
     2101 aaagtgaagg ttccagacca gagtattatt gctaaggttc tgcagctcag gtgcatgtga
     2161 gctacaaaac tagcatctaa gggtataatt gaccctaggt ttggatgact tttggacaga
     2221 ctttcacatt gtacatgaaa atcacaaatg gaatgctttt aagtatgttt aaaaaatacc
     2281 atgagacctc tgaactgaaa agacaaataa tgttgatttt ttttcttgtg tggaaaaggt
     2341 ctacagaaat aatttttaga gtggtgctta ataaattatt aatacttttt agggtaatgt
     2401 tttagttctt aaaaataagt tcatgtgaaa gtagcaagtg aactctgtat ttaaaaatat
     2461 agttttttga gtcatgagga aacattagca aaaccagcta agccttgatg tttattcatg
     2521 ttcgaagtgc attatagcat ttgctgtgga tgttttctga cattgcctaa tggagagcgt
     2581 gggatcataa aggattttgt gttcactaag gttaaatcta actcacggga gagagagggc
     2641 tctgtctctt ggtaccatta tgcattgtga tactatagag ttgtgttcat atttcttgta
     2701 agaaaaattt ttgcttttct ttagaaatat aggtattagc aaaagtaagt atacaaagag
     2761 gattatgaca aatagaccat ttctttaaaa atggtaactg ttgcatttaa acacatcgac
     2821 tgacagatta tatggatatt taaaaataac tttaaatcaa tcttttaata ttttgctgtt
     2881 tgctcttatg ttctcccttc tttcttcctt ccttgtcttc cctccctttc cttccttcat
     2941 tctttctttc ttctgctctg tcagaagata tacaagtagc caaagcatca cgagccaagc
     3001 tgtttgtctt ttgccatatt gtcttttgat tctcttgata aagagaaagc ttttgaaatt
     3061 acttactgcc ctttgaaagt ctgttttaca accccaaagg atattttagg actttaaaag
     3121 ggaagcttca gtggattcat ttggttagat tcttttccta ggttaaaaac atcggggaac
     3181 ttaaatacat aggaaaggag ttcacaaata aaatttagtt tttttagaaa gagaatattt
     3241 taataactgt agtatactac aagaaacatc tcatggcttt aagattaacg atagcgataa
     3301 ggcccactca agcatctcac agtggtgata ttacatgtca cttagcagga tgcaacctgg
     3361 cctagggatt tccagaagac aaggccacct cagcacagat gcaactttca taaattttag
     3421 aacaaagcct aaccttacta gattaaactt gctctatgaa agaaacactt ggtaattgac
     3481 ccagactgaa tacatgtata agaaatggga aagatctccc aaactctgag aacggtcctc
     3541 aaatagaagc tctcctagtc agttggtcat ctgacctctg actatatccg gcctatgaca
     3601 ccagccagct cctgctttct gtcttgtaag agcactgctg gaataaacta cttgagcatt
     3661 a
//
