LOCUS       NM_001365008            1245 bp    mRNA    linear   PRI 04-AUG-2024
DEFINITION  Homo sapiens IZUMO family member 3 (IZUMO3), transcript variant 2,
            mRNA.
ACCESSION   NM_001365008 XM_005251332
VERSION     NM_001365008.2
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 1245)
  AUTHORS   Chesi,A., Mitchell,J.A., Kalkwarf,H.J., Bradfield,J.P., Lappe,J.M.,
            Cousminer,D.L., Roy,S.M., McCormack,S.E., Gilsanz,V.,
            Oberfield,S.E., Hakonarson,H., Shepherd,J.A., Kelly,A., Zemel,B.S.
            and Grant,S.F.
  TITLE     A Genomewide Association Study Identifies Two Sex-Specific Loci, at
            SPTB and IZUMO3, Influencing Pediatric Bone Mineral Density at
            Multiple Skeletal Sites
  JOURNAL   J Bone Miner Res 32 (6), 1274-1281 (2017)
   PUBMED   28181694
  REMARK    GeneRIF: two sex-specific loci(SPTB in females and IZUMO3 in
            males), yielding associations that were particularly strong at a
            specific skeletal site, were identified.
REFERENCE   2  (bases 1 to 1245)
  AUTHORS   Grayson,P. and Civetta,A.
  TITLE     Positive Selection and the Evolution of izumo Genes in Mammals
  JOURNAL   Int J Evol Biol 2012, 958164 (2012)
   PUBMED   22957301
REFERENCE   3  (bases 1 to 1245)
  AUTHORS   Ellerman,D.A., Pei,J., Gupta,S., Snell,W.J., Myles,D. and
            Primakoff,P.
  TITLE     Izumo is part of a multiprotein family whose members form large
            complexes on mammalian sperm
  JOURNAL   Mol Reprod Dev 76 (12), 1188-1199 (2009)
   PUBMED   19658160
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL162232.14.
            
            On Jun 2, 2019 this sequence version replaced NM_001365008.1.
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2151119
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            MANE Ensembl match        :: ENST00000543880.7/ ENSP00000438895.1
            RefSeq Select criteria    :: based on conservation, expression,
                                         longest protein
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-474               AL162232.14        49759-50232         c
            475-549             AL162232.14        49547-49621         c
            550-639             AL162232.14        49307-49396         c
            640-657             AL162232.14        49078-49095         c
            658-738             AL162232.14        48536-48616         c
            739-829             AL162232.14        47999-48089         c
            830-1245            AL162232.14        47287-47702         c
FEATURES             Location/Qualifiers
     source          1..1245
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9p21.3"
     gene            1..1245
                     /gene="IZUMO3"
                     /gene_synonym="bA20A20.1; C9orf134"
                     /note="IZUMO family member 3"
                     /db_xref="GeneID:100129669"
                     /db_xref="HGNC:HGNC:31421"
                     /db_xref="MIM:618896"
     exon            1..474
                     /gene="IZUMO3"
                     /gene_synonym="bA20A20.1; C9orf134"
                     /inference="alignment:Splign:2.1.0"
     CDS             249..968
                     /gene="IZUMO3"
                     /gene_synonym="bA20A20.1; C9orf134"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; izumo sperm-egg fusion protein 3"
                     /codon_start=1
                     /product="izumo sperm-egg fusion protein 3 isoform 2
                     precursor"
                     /protein_id="NP_001351937.1"
                     /db_xref="CCDS:CCDS94393.1"
                     /db_xref="GeneID:100129669"
                     /db_xref="HGNC:HGNC:31421"
                     /db_xref="MIM:618896"
                     /translation="MGDLWLFLLLPLSAFHGVKGCLECDPKFIEDVGSLLGNLIPSEV
                     PGRTQLLERQIKEMIHLSFKVSHSDKRLRVLAVQQVVKLRTWLKNEFYKLGNETWKGV
                     FIYQGKLLDVCQNLESKLKELLKNFSEIACSEDCIVVEGPILDCWTCLRMTNRCFKGE
                     YCGDEDPRKAENREIALFLILLATAVILGSAVLLFHFCIFHRRKMKAIRRSLKEYVEK
                     KLEELMGKIDEKEEKDFRLRK"
     exon            475..549
                     /gene="IZUMO3"
                     /gene_synonym="bA20A20.1; C9orf134"
                     /inference="alignment:Splign:2.1.0"
     exon            550..639
                     /gene="IZUMO3"
                     /gene_synonym="bA20A20.1; C9orf134"
                     /inference="alignment:Splign:2.1.0"
     exon            640..657
                     /gene="IZUMO3"
                     /gene_synonym="bA20A20.1; C9orf134"
                     /inference="alignment:Splign:2.1.0"
     exon            658..738
                     /gene="IZUMO3"
                     /gene_synonym="bA20A20.1; C9orf134"
                     /inference="alignment:Splign:2.1.0"
     exon            739..829
                     /gene="IZUMO3"
                     /gene_synonym="bA20A20.1; C9orf134"
                     /inference="alignment:Splign:2.1.0"
     exon            830..1245
                     /gene="IZUMO3"
                     /gene_synonym="bA20A20.1; C9orf134"
                     /inference="alignment:Splign:2.1.0"
     regulatory      964..969
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IZUMO3"
                     /gene_synonym="bA20A20.1; C9orf134"
                     /note="hexamer: AATAAA"
     polyA_site      983
                     /gene="IZUMO3"
                     /gene_synonym="bA20A20.1; C9orf134"
                     /note="major polyA site"
ORIGIN      
        1 agaactcagg tatccgctcc ccagctggca gttccctctc ctagaatgaa ggataatagt
       61 cagtaaacaa ctaaagatca ttaaactaaa caactaaaga ttgcccgata gtgggatgga
      121 aacagcggga aaagtggagt cagactatcc agaaccaggc tctcattccc ggatttttga
      181 aggaaaagga actaagtgaa ctagttgcca ggacaacctg ctgtcgggga gcgggggtga
      241 agaaagaaat gggtgacctg tggttattcc tgctcctgcc cctctcagcc ttccatggag
      301 tcaaaggctg tttagaatgt gaccccaaat ttatagagga tgttggctcc ttgctgggaa
      361 atctgatacc ttcagaagtc cccggccgaa ctcagctgct tgaacggcag attaaggaga
      421 tgattcattt aagcttcaag gtctcccaca gtgacaagag gcttcgggtg ttggctgttc
      481 agcaggttgt taagttgaga acatggttga agaatgaatt ttataaactg ggcaatgaaa
      541 catggaaagg tgtctttatc tatcaaggca agcttctcga tgtctgccaa aacctggaat
      601 ccaaactgaa agaattacta aagaacttct ctgaaattgc ttgttctgaa gattgcattg
      661 tggttgaagg tcccattctt gattgttgga cgtgtcttcg catgactaac aggtgcttca
      721 aaggagaata ttgtggagac gaggatccaa gaaaggctga gaatcgagag attgctctat
      781 ttctcatatt gctggcaaca gctgtaatac tgggaagtgc tgtgttacta ttccattttt
      841 gcatctttca tcggaggaaa atgaaggcaa tacgaaggtc gctaaaggaa tatgtggaga
      901 agaaacttga agaattaatg gggaagatag atgagaagga ggagaaagac tttagactca
      961 gaaaataaac acatcaacat ggacaagaag tctttcatga ttctcttaag tgttgactct
     1021 aagtacaaaa ctgggaggta aaccctttct tggtcataaa gtcatagtat tttaaaactg
     1081 aaatagaact tagagtttct ctaatgaaaa tgcttattga tatcctgaga caacggaagt
     1141 aatgggagag caaataattt ggccagagtt gtacagaaag taatgctggt atgttgcaat
     1201 gcacaggaaa gataatatgc tggatagtaa taaataatgc atcgt
//
