LOCUS       NM_001007237            7235 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens immunoglobulin superfamily member 3 (IGSF3),
            transcript variant 2, mRNA.
ACCESSION   NM_001007237
VERSION     NM_001007237.3
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 7235)
  AUTHORS   Schweitzer,K.S., Jinawath,N., Yonescu,R., Ni,K., Rush,N.,
            Charoensawan,V., Bronova,I., Berdyshev,E., Leach,S.M.,
            Gillenwater,L.A., Bowler,R.P., Pearse,D.B., Griffin,C.A. and
            Petrache,I.
  TITLE     IGSF3 mutation identified in patient with severe COPD alters cell
            function and motility
  JOURNAL   JCI Insight 5 (14), 138101 (2020)
   PUBMED   32573489
  REMARK    GeneRIF: IGSF3 mutation identified in patient with severe COPD
            alters cell function and motility.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 7235)
  AUTHORS   Yuan,Y., Yang,L., Liu,T., Zhang,H. and Lu,Q.
  TITLE     Osteoclastogenesis inhibition by mutated IGSF23 results in human
            osteopetrosis
  JOURNAL   Cell Prolif 52 (6), e12693 (2019)
   PUBMED   31560140
  REMARK    GeneRIF: the IGSF23 mutation led to decreased c-Fos and NFATC1
            expression levels by inhibiting the mitogen-activated protein
            kinase signalling pathways
REFERENCE   3  (bases 1 to 7235)
  AUTHORS   Foster,J. 2nd, Kapoor,S., Diaz-Horta,O., Singh,A., Abad,C.,
            Rastogi,A., Moharana,R., Tekeli,O., Walz,K. and Tekin,M.
  TITLE     Identification of an IGSF3 mutation in a family with congenital
            nasolacrimal duct obstruction
  JOURNAL   Clin Genet 86 (6), 589-591 (2014)
   PUBMED   24372406
  REMARK    GeneRIF: Based on IGSF3 mutation in a family with congenital
            nasolacrimal duct obstruction we conclude that the disruption of
            IGSF3 is the very likely cause of autosomal recessive nasolacrimal
            duct obstruction.
REFERENCE   4  (bases 1 to 7235)
  AUTHORS   Saupe,S., Roizes,G., Peter,M., Boyle,S., Gardiner,K. and De
            Sario,A.
  TITLE     Molecular cloning of a human cDNA IGSF3 encoding an
            immunoglobulin-like membrane protein: expression and mapping to
            chromosome band 1p13
  JOURNAL   Genomics 52 (3), 305-311 (1998)
   PUBMED   9790749
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC110651.1, AB007935.2 and
            AI968231.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001007237.2.
            
            Summary: The protein encoded by this gene is an immunoglobulin-like
            membrane protein containing several V-type Ig-like domains. A
            mutation in this gene has been associated with bilateral
            nasolacrimal duct obstruction (LCDD). [provided by RefSeq, Jun
            2016].
            
            Transcript Variant: This variant (2) differs in the 5' UTR and
            lacks an alternate in-frame exon, compared to variant 1. The
            encoded isoform (2) is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC110651.1, SRR18074969.499751.1
                                           [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369486.8/ ENSP00000358498.4
            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
            1-3805              BC110651.1         23-3827
            3806-7234           AB007935.2         3160-6588
            7235-7235           AI968231.1         32-32               c
FEATURES             Location/Qualifiers
     source          1..7235
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p13.1"
     gene            1..7235
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="immunoglobulin superfamily member 3"
                     /db_xref="GeneID:3321"
                     /db_xref="HGNC:HGNC:5950"
                     /db_xref="MIM:603491"
     exon            1..116
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /inference="alignment:Splign:2.1.0"
     exon            117..789
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /inference="alignment:Splign:2.1.0"
     CDS             747..4331
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; glu-Trp-Ile EWI motif-containing protein 3;
                     immunoglobin superfamily, member 3"
                     /codon_start=1
                     /product="immunoglobulin superfamily member 3 isoform 2
                     precursor"
                     /protein_id="NP_001007238.1"
                     /db_xref="CCDS:CCDS30813.1"
                     /db_xref="GeneID:3321"
                     /db_xref="HGNC:HGNC:5950"
                     /db_xref="MIM:603491"
                     /translation="MKCFFPVLSCLAVLGVVSAQRQVTVQEGPLYRTEGSHITIWCNV
                     SGYQGPSEQNFQWSIYLPSSPEREVQIVSTMDSSFPYAIYTQRVRGGKIFIERVQGNS
                     TLLHITDLQARDAGEYECHTPSTDKQYFGSYSAKMNLVVIPDSLQTTAMPQTLHRVEQ
                     DPLELTCEVASETIQHSHLSVAWLRQKVGEKPVEVISLSRDFMLHSSSEYAQRQSLGE
                     VRLDKLGRTTFRLTIFHLQPSDQGEFYCEAAEWIQDPDGSWYAMTRKRSEGAVVNVQP
                     TDKEFTVRLETEKRLHTVGEPVEFRCILEAQNVPDRYFAVSWAFNSSLIATMGPNAVP
                     VLNSEFAHREARGQLKVAKESDSVFVLKIYHLRQEDSGKYNCRVTEREKTVTGEFIDK
                     ESKRPKNIPIIVLPLKSSISVEVASNASVILEGEDLRFSCSVRTAGRPQGRFSVIWQL
                     VDRQNRRSNIMWLDRDGTVQPGSSYWERSSFGGVQMEQVQPNSFSLGIFNSRKEDEGQ
                     YECHVTEWVRAVDGEWQIVGERRASTPISITALEMGFAVTAISRTPGVTYSDSFDLQC
                     IIKPHYPAWVPVSVTWRFQPVGTVEFHDLVTFTRDGGVQWGDRSSSFRTRTAIEKAES
                     SNNVRLSISRASDTEAGKYQCVAELWRKNYNNTWTRLAERTSNLLEIRVLQPVTKLQV
                     SKSKRTLTLVENKPIQLNCSVKSQTSQNSHFAVLWYVHKPSDADGKLILKTTHNSAFE
                     YGTYAEEEGLRARLQFERHVSGGLFSLTVQRAEVSDSGSYYCHVEEWLLSPNYAWYKL
                     AEEVSGRTEVTVKQPDSRLRLSQAQGNLSVLETRQVQLECVVLNRTSITSQLMVEWFV
                     WKPNHPERETVARLSRDATFHYGEQAAKNNLKGRLHLESPSPGVYRLFIQNVAVQDSG
                     TYSCHVEEWLPSPSGMWYKRAEDTAGQTALTVMRPDASLQVDTVVPNATVSEKAAFQL
                     DCSIVSRSSQDSRFAVAWYSLRTKAGGKRSSPGLEEQEEEREEEEEEDDDDDDDPTER
                     TALLSVGPDAVFGPEGSPWEGRLRFQRLSPVLYRLTVLQASPQDTGNYSCHVEEWLPS
                     PQKEWYRLTEEESAPIGIRVLDTSPTLQSIICSNDALFYFVFFYPFPIFGILIITILL
                     VRFKSRNSSKNSDGKNGVPLLWIKEPHLNYSPTCLEPPVLSIHPGAID"
     exon            790..1167
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /inference="alignment:Splign:2.1.0"
     exon            1168..1578
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /inference="alignment:Splign:2.1.0"
     exon            1579..1968
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /inference="alignment:Splign:2.1.0"
     exon            1969..2370
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /inference="alignment:Splign:2.1.0"
     exon            2371..2775
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /inference="alignment:Splign:2.1.0"
     exon            2776..3186
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /inference="alignment:Splign:2.1.0"
     exon            3187..3594
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /inference="alignment:Splign:2.1.0"
     exon            3595..4080
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /inference="alignment:Splign:2.1.0"
     exon            4081..7235
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /inference="alignment:Splign:2.1.0"
     polyA_site      6675
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
     regulatory      7216..7221
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="hexamer: AGTAAA"
     polyA_site      7235
                     /gene="IGSF3"
                     /gene_synonym="EWI-3; LCDD; V8"
                     /note="major polyA site"
ORIGIN      
        1 agcgcggctg ctggtgccgt tgcgggagaa gaggaagcgg cgcgtcccct gaggcgtgcg
       61 cctggatgga ctgaaggacg gtccgacgcg cgcggaggga gagggccagg ggcgagaaat
      121 ctgctcgcgc tggggtaccg cttcagggct gccgaacgcc aacttgcttc gtgtgcccta
      181 ggcaggcgtg gggcaggtgg cgcctccgtg acctaccacc atggatggaa acggactttt
      241 tggtgaagaa acccaaacgg ttgatgccag gcagggtgat ttggccgtca aaggttttga
      301 cgaaacctgc cctgttctct ctggggaatc cgaatgaggg agatcacaga caccttcact
      361 gagaagccaa ggacatttct gtataatcag tggatgaaag gattttctca gacccttttt
      421 tccgtgcttc tggaggatta atccactaca gtctgcaatt tcagtggaaa ctgcaaggca
      481 cacgatgtgg caggagccgg gagcgacttc cgaattgttg tggacccttc ctgtagcata
      541 ggggagtttt cacacttgcc tccactcctc cccttccccc caactccctc cttctgatct
      601 cttcttttta atctgttccc attttccgag ttaagttcta tttccaaaac tgttctctgg
      661 agctataagt ggattgccag aaatgagaga ttaggagctg ggagaagagg aagcgccttg
      721 tgttgtgtct cctggaggct gccgacatga agtgcttttt cccggtgctg agctgtctgg
      781 ctgtgctggg tgtggtgtca gcacagcggc aggtcaccgt tcaggaagga cccttgtacc
      841 gcacggaggg ctcccacatc actatctggt gcaatgtgag tggctaccag ggaccttctg
      901 agcagaattt ccagtggtcc atttacctgc cttcgtcgcc agagcgagag gtgcagatcg
      961 tcagcaccat ggactcttcc ttcccctatg ccatctacac ccagcgcgtc cgcggaggga
     1021 agatcttcat agaaagagtc caggggaact caaccctatt gcacatcaca gatcttcagg
     1081 cccgggatgc cggggagtat gaatgccaca cacccagcac tgataagcaa tactttggga
     1141 gttacagtgc aaagatgaac ctagtggtga tcccagactc cctgcagacc actgccatgc
     1201 cccagactct gcacagagtg gagcaggacc cgctggagct cacttgtgag gtggcctcag
     1261 agaccattca gcacagccac ctgtctgtgg cctggctccg gcagaaagtt ggcgagaagc
     1321 ccgtggaggt catctccctg agccgagatt tcatgcttca ctccagcagc gaatatgccc
     1381 agaggcagag cctgggggag gtgcggctgg acaagctggg gaggaccacc ttccgcctca
     1441 ccatcttcca cctgcagcct tctgaccagg gcgaattcta ctgcgaggcc gccgagtgga
     1501 tccaggatcc ggatgggtcg tggtatgcta tgacccgaaa gcgttccgag ggagccgtgg
     1561 tcaacgtcca gccaactgac aaagaattca ctgttcggct ggagacagag aagcggctgc
     1621 acacggtggg cgagccggtg gagttcagat gcatcctgga ggctcagaat gttcccgacc
     1681 gttactttgc tgtctcctgg gccttcaaca gctcgctcat cgccaccatg ggtcctaacg
     1741 ctgtgcctgt cctcaacagc gaatttgctc accgggaagc caggggacag cttaaggtgg
     1801 ccaaagagag cgacagtgtc tttgtgctga agatctacca cctccgccag gaagatagcg
     1861 ggaaatacaa ctgccgggtg actgagcgag agaaaaccgt gaccggggaa ttcattgata
     1921 aggagagcaa gcgtcccaag aacatcccca tcatagtcct ccccctcaag agcagcatct
     1981 ccgtggaggt ggccagcaat gccagcgtca tccttgaggg cgaggacctg cgcttctcct
     2041 gcagtgtccg cacggcaggc aggccgcagg gtcgcttctc tgtcatctgg cagcttgtgg
     2101 acaggcagaa ccgccgcagc aatatcatgt ggctagaccg ggatggcacc gtgcagccag
     2161 gctcgtccta ctgggagcgc agcagctttg ggggcgtcca gatggagcag gtgcagccca
     2221 actcgttcag cctgggcatc ttcaacagca ggaaggagga cgagggccag tatgaatgcc
     2281 atgtgactga atgggtgcgg gcagtggatg gcgagtggca gattgttggg gagcgccggg
     2341 ccagcactcc catctccatc acagctcttg aaatgggctt cgcagtcaca gccatctccc
     2401 ggacaccggg ggtgacctac agcgactcct ttgacttgca gtgtatcatc aaaccccact
     2461 accctgcctg ggtccccgtg tcggtgacat ggcggttcca gccggtgggc acggtggagt
     2521 tccatgactt ggtgaccttc acccgggacg gaggggtcca gtggggggac aggtcctcca
     2581 gcttccgaac ccgaactgcc atcgagaagg ctgagtccag caacaacgtc cgcctaagca
     2641 tcagccgagc cagtgacacg gaagcaggca agtaccagtg tgtggcagag ctgtggcgga
     2701 agaactacaa caacacctgg acgcgactgg cggagaggac ctccaacctg ctggagatca
     2761 gggtgctgca gccagtgaca aagctgcagg tgagcaaatc gaagaggacc ctcaccctgg
     2821 tggaaaacaa gcccattcag ttgaactgct cagtcaagtc tcagactagc cagaactccc
     2881 actttgcggt gctctggtat gtccacaagc cctcggatgc cgatggcaag cttatcctga
     2941 agaccaccca caactccgcc tttgaatacg gtacttacgc cgaggaggag ggcctgagag
     3001 ccaggctcca gtttgagagg catgtgtcgg ggggcctgtt cagcctcacc gtccagagag
     3061 ccgaggtcag cgacagcggc agctactact gccacgtgga ggagtggctg ctgagcccca
     3121 actacgcctg gtacaagctg gcagaggagg tttctgggcg cacagaagtc actgtgaaac
     3181 agccagacag ccgcctgagg ctcagccaag cccaggggaa cctgtcggtt ctggagaccc
     3241 ggcaggtaca gctggagtgt gtggttctca accgcaccag cataacctcc cagctcatgg
     3301 tggaatggtt tgtatggaag cccaaccacc ctgagcggga gactgtggcc cgcttgagcc
     3361 gtgacgccac cttccactat ggagagcagg cagccaagaa caatctgaag gggcggctgc
     3421 atttggagag tccttccccc ggcgtgtacc gtctcttcat ccagaacgtg gctgtgcagg
     3481 acagcgggac ctacagctgc catgtggagg agtggctgcc cagccccagt ggcatgtggt
     3541 ataagcgggc agaggacacc gctgggcaga cagctctgac agtcatgcga ccagatgctt
     3601 ccctgcaggt ggacacagtg gtccccaatg ccacggtctc tgagaaggca gctttccagc
     3661 tggactgtag catcgtgtcc cgctccagcc aggactcccg cttcgctgtg gcctggtatt
     3721 ccctgaggac taaagctggg gggaaaagga gcagccctgg cctggaagaa caggaagagg
     3781 aaagggagga ggaggaggag gaggacgacg acgacgacga cgacccaaca gagcggacgg
     3841 ccctgctgag cgtgggccca gatgctgtct ttggcccaga gggcagtcct tgggagggca
     3901 ggcttcgctt ccagaggctc tccccggtgc tctaccggct cacagtgctg caggcaagcc
     3961 cccaagatac aggcaattac tcctgccatg tggaggagtg gctgcccagc cctcagaagg
     4021 aatggtaccg gctgacggag gaggagtcag cccccatcgg catccgtgtt ctagatacaa
     4081 gtcccaccct ccagtccatc atctgctcca acgacgcact cttctacttc gtcttcttct
     4141 accctttccc catctttggc attcttatca tcaccatcct tctggtgcgt ttcaagagcc
     4201 ggaactccag caagaactct gatgggaaga atggggtgcc tctgctgtgg atcaaagagc
     4261 cacacctcaa ctactcccct acttgcctgg agccccctgt tctcagtatc catccagggg
     4321 ccatagacta agcgggtgat gccccagcgg atgttggcca cggaggagct gaggctctcc
     4381 ctttctctgt gattggacag ttgacagcac ccaaactctg gggtgcatgt gtgtggaaag
     4441 ttgtcagact tgaaaagtgt tccaagttcc cagtcagtca cagagacaga ctgcctctcg
     4501 gtggcagtct tggttggtta gctatttgcg cgcaaatgtt gtgatcctgc cattatagat
     4561 ttcttgtttc tgtttttagt aatgtagtga gtagctccag gtgccacatc tactcacaga
     4621 tttatctagt attctcagat agatgttaca gggcttctta ttctttgtaa tgtactcttt
     4681 ttaaatccct ttagtttacc ctttttggat tccttaatgt ggacgaattt ctcttacgta
     4741 caactgacag caaaaggaag ggcgaacttt ctagtgacaa ggaatctctt ccaagacttt
     4801 gtttttgcac atttgaaaat gccacccatg gatcaaaata tacccaaacg ttttttactt
     4861 tcttaacaag acttaagaat tgtgtgtagt gtgggcaaaa tttgtatgtt gtcttttccc
     4921 tcagctggag ttattggaac cactttgtag tcaagacgaa agcactgaat tttgcttcaa
     4981 agaactgtgt atgtacaaga gaaatcctgc ataaccccat taggagtaga tggtgcccgg
     5041 cctatctgtc agggaggcaa aaaaggcttc atcccatcct tgccaaaaaa taagaaaact
     5101 gtcttggaga atgggtcaga agccccaaac ggcacacact ttccaaatta aagtgggcag
     5161 gggctgcttt tagcagctgc tgacctgcag atttgtcaaa gccagtgact agagaaggaa
     5221 gggagaaagg ctggctgttg gcttgctctg agctgcaagg atggtctcta actgattaac
     5281 tgtgagcagg tgggcctgtg tcttcaggtg ctttgccaaa ctcttaaaag aaagtgtcca
     5341 gtgaacttgg aagtgggccc ctgagctgag cacagggcca aagcagccat ggcagacacc
     5401 tgacggaggg cacggggctg gctgacacta agtttggtgg gacagtgagg ggtgggaggg
     5461 gggtttccag ggcctggtgt tggagagtgc agagaaatat ctacctccct ggaggtgtga
     5521 agactaggtt tttcttcttc cttccaatta gattttcctt aattatagtg atgtcttcct
     5581 tattcatttt tctctccctg cctctcactg ccataagaat atcagcctgg gggcagtcca
     5641 gacgcagccc tttgtcatcc tttctgtttg cctagtctca gcagactgtg atcacaaggc
     5701 attgtctgtg ggatttttcc tttccctttc ttgatctctc ttgtggttct aggttgtttg
     5761 gttgttcatt gttatggtgg ctttttattt taacgcccct tgagccccat gatggctggt
     5821 gtcaccctgt tcttttacac tgttgggcca ggtgctgctt gtccttctta gggcatcatc
     5881 aattgcaaat atttcctttt gctcccttta tgaagatgtt cttataccct tgctttccca
     5941 tatttttctg gccaagcatg ccatctcctt tactctggga acttacatcc tgaatcccaa
     6001 gagggggtca cagtttggaa aaagtcatca gggattctgg aactaagtct gataaaagat
     6061 tccagtgaag ccctgttctg agaacgagca gactgcaggg gaggccatgg gattccccag
     6121 gccagtgtct gtgctgatcc ttcaagggtc tgcaggtatg caggtggcct gggctgctcg
     6181 gcagatactt tgctgattcc cagctgaggg gagcatggtg gcgattgctc agccattttc
     6241 tgacagacac acagacctgc cttttctccc ccaagtatac cgtaccctcc tgtgagacag
     6301 tgtgtgcagg caccaccacc ttaatcctgc tgttgcctga catgctgatt ctcatttatt
     6361 atgctgcatc aacacattag aggtacagga gcggctcagt catgaaaaaa gaaggtcttt
     6421 tgccccattt ctttatttca gagatgtggg ctttcagtgg gaatttgctg actcctactt
     6481 tataggctga gtcaatgagg gaagatgact ggcgtttcct ctgtctaaat gggaggttgc
     6541 cagagcgctg gctgggacta ggatgtgtaa ctaagatttc agtttgaaat cttagatttc
     6601 agttcacggc gataaagaag taggtgctgc acacaaatat gtaaagcaat tgtaggaaat
     6661 ttgaaaggaa aaaaagaaac cgaagccagt attttaataa ttgctttttc tgtgtatttt
     6721 gtattgggct gggggatagc atcaaaggtt gaactttttg agctttctat gaaaaacccc
     6781 aggaccttct ttctttggcc atttctatgg aaatgcgatg tcagatggat ggtaatggtg
     6841 ccctccagtg gctgtgagac ctcattgcgc attgtctact ggagctttag tcttctgaga
     6901 cggaggaaaa ctgctgaata ctctggattc atctatgtct acaatgttgc atttatgaaa
     6961 aactacactg tgctaggcgc attctaggac atgaatatga ccacaccctc tttcaccggg
     7021 tgtttctgta gcaagttttc atattctttt caaacaatgg tttctctgcg ttaattattg
     7081 aggaaaaaaa aagatggggt aagaaaacta cccatgcatg atgtagagag ctgttgattt
     7141 gtttctgttt ttttaaagga aaactatttg taagatgttg cactaaaaca ttttatatac
     7201 acttcagaga cctgtagtaa attatgttga aaata
//
