LOCUS       NM_017688               2328 bp    mRNA    linear   PRI 08-JUN-2024
DEFINITION  Homo sapiens B-box and SPRY domain containing (BSPRY), transcript
            variant 2, mRNA.
ACCESSION   NM_017688
VERSION     NM_017688.3
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 2328)
  AUTHORS   Machida,J., Felix,T.M., Murray,J.C., Yoshiura,K., Tanemura,M.,
            Kamamoto,M., Shimozato,K., Sonta,S. and Ono,T.
  TITLE     Searching for genes for cleft lip and/or palate based on breakpoint
            analysis of a balanced translocation t(9;17)(q32;q12)
  JOURNAL   Cleft Palate Craniofac J 46 (5), 532-540 (2009)
   PUBMED   19929093
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   2  (bases 1 to 2328)
  AUTHORS   Birkenfeld,J., Kartmann,B., Anliker,B., Ono,K., Schlotcke,B.,
            Betz,H. and Roth,D.
  TITLE     Characterization of zetin 1/rBSPRY, a novel binding partner of
            14-3-3 proteins
  JOURNAL   Biochem Biophys Res Commun 302 (3), 526-533 (2003)
   PUBMED   12615066
  REMARK    GeneRIF: Expression analysis of the rat BSPRY ortholog and
            demonstration of its interaction with 14-3-3 proteins.
REFERENCE   3  (bases 1 to 2328)
  AUTHORS   Gisler,S.M., Stagljar,I., Traebert,M., Bacic,D., Biber,J. and
            Murer,H.
  TITLE     Interaction of the type IIa Na/Pi cotransporter with PDZ proteins
  JOURNAL   J Biol Chem 276 (12), 9206-9213 (2001)
   PUBMED   11099500
REFERENCE   4  (bases 1 to 2328)
  AUTHORS   Schenker,T. and Trueb,B.
  TITLE     BSPRY, a novel protein of the Ro-Ret family
  JOURNAL   Biochim Biophys Acta 1493 (1-2), 255-258 (2000)
   PUBMED   10978534
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK092607.1 and EL954585.1.
            
            On Nov 23, 2018 this sequence version replaced NM_017688.2.
            
            Transcript Variant: This variant (2) uses an alternate in-frame
            splice site in the coding region, compared to variant 1. It encodes
            isoform 2 which is shorter than isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK092607.1, SRR1803612.198250.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000374183.5/ ENSP00000363298.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1530              AK092607.1         1-1530
            1531-1826           EL954585.1         97-392
            1827-2328           AK092607.1         1826-2327
FEATURES             Location/Qualifiers
     source          1..2328
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q32"
     gene            1..2328
                     /gene="BSPRY"
                     /note="B-box and SPRY domain containing"
                     /db_xref="GeneID:54836"
                     /db_xref="HGNC:HGNC:18232"
                     /db_xref="MIM:619683"
     exon            1..240
                     /gene="BSPRY"
                     /inference="alignment:Splign:2.1.0"
     CDS             40..1248
                     /gene="BSPRY"
                     /note="isoform 2 is encoded by transcript variant 2; zetin
                     1; B-box and SPRY-domain containing protein"
                     /codon_start=1
                     /product="B box and SPRY domain-containing protein isoform
                     2"
                     /protein_id="NP_060158.2"
                     /db_xref="CCDS:CCDS43868.1"
                     /db_xref="GeneID:54836"
                     /db_xref="HGNC:HGNC:18232"
                     /db_xref="MIM:619683"
                     /translation="MSAEGAEPGPGSGSGPGPGPLCPEHGQALSWFCGSERRPVCAAC
                     AGLGGRCRGHRIRRAEERAEELRNKIVDQCERLQLQSAAITKYVADVLPGKNQRAVSM
                     ASAARELVIQRLSLVRSLCESEEQRLLEQVHGEEERAHQSILTQRVHWAEALQKLDTI
                     RTGLVGMLTHLDDLQLIQKEQEIFERTEEAEGILDPQESEMLNFNEKCTRSPLLTQLW
                     ATAVLGSLSGTEDIRIDERTVSPFLQLSDDRKTLTFSTKKSKACADGPERFDHWPNAL
                     AATSFQNGLHAWMVNVQNSCAYKVGVASGHLPRKGSGSDCRLGHNAFSWVFSRYDQEF
                     RFSHNGQHEPLGLLRGPAQLGVVLDLQVQELLFYEPASGTVLCAHHVSFPGPLFPVFA
                     VADQTISIVR"
     exon            241..339
                     /gene="BSPRY"
                     /inference="alignment:Splign:2.1.0"
     exon            340..570
                     /gene="BSPRY"
                     /inference="alignment:Splign:2.1.0"
     exon            571..596
                     /gene="BSPRY"
                     /inference="alignment:Splign:2.1.0"
     exon            597..721
                     /gene="BSPRY"
                     /inference="alignment:Splign:2.1.0"
     exon            722..2328
                     /gene="BSPRY"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2310..2315
                     /regulatory_class="polyA_signal_sequence"
                     /gene="BSPRY"
                     /note="hexamer: ATTAAA"
     polyA_site      2328
                     /gene="BSPRY"
                     /note="major polyA site"
ORIGIN      
        1 acctgcgaca ggtggagcgc acggggcggg cgcacggcca tgtccgccga gggcgcggag
       61 ccggggccgg ggtccgggtc cgggcccggg ccggggccac tctgccccga acacggccag
      121 gctctgagct ggttctgcgg ctccgagcga cggcccgtgt gcgccgcctg cgcggggttg
      181 ggcggtcgct gccgggggca ccgcatccgc cgggcggagg agcgcgccga ggagctgcgg
      241 aacaagattg tggaccagtg tgagaggctg cagttacaga gtgctgccat caccaagtat
      301 gtggcggacg tcctgccggg gaagaatcaa agagcagtga gcatggccag tgcagcgagg
      361 gaactggtta tccagcggtt gagtctggtg aggagtcttt gcgagagcga ggagcagcgg
      421 ttactggaac aggtgcatgg cgaagaggag cgggcccacc agagcatcct gacacagcgg
      481 gtgcactggg ccgaggcgct gcagaaactt gacaccatcc gcactggcct ggtgggcatg
      541 cttactcacc tggatgacct ccagctgatt cagaaggagc aagagatttt cgagaggacc
      601 gaagaagcag agggcatttt ggatccccag gagtcggaaa tgttaaactt taatgagaag
      661 tgcactcgga gcccactact gacccaactc tgggcaacgg cggttcttgg gtctctctca
      721 ggcacagagg acatacggat cgatgagagg acagtcagcc ccttcctgca attgtcagat
      781 gatcgaaaga ccctgacctt cagcaccaag aagtcaaagg cctgtgcaga tggcccggag
      841 cgcttcgacc actggcccaa tgccctggct gccacctcct tccagaatgg gctccatgcc
      901 tggatggtga atgtccagaa cagttgtgcc tataaggtgg gcgtggcttc aggccacctg
      961 ccccgcaagg gttctggcag tgactgccgt ctgggccaca atgccttctc ctgggtcttc
     1021 tctcgctatg atcaggagtt tcgtttctca cacaatgggc agcacgagcc cctggggctg
     1081 ctgcggggcc cagcccagct gggtgtagtg ctggacttgc aggttcagga gctgctcttc
     1141 tatgagccag cctccggcac agtgctctgt gcccatcatg tgtccttccc ggggcccctc
     1201 ttcccagtct ttgctgtggc cgatcagacc atttctatcg tccgctgacc tctggccaca
     1261 ggaagccagg tccaccgccc accacccttt caggccatgt ttctactcag tgtgcttttc
     1321 ccaaatgatg tgtgtggtgt ttctaagaga aacagggccc ataaccagtg ggcagcttta
     1381 ggagggatgg ggatctgttt cagatctagg cataacctgt aaatcacagg tgtccaaact
     1441 tttggcttcc ctgggccaca tttgaagaag aattttcttg ggccacataa aatacactaa
     1501 cgatagctga tgagctaaaa aaaaaaaaaa agtctgtgta taatttttgt gatatctgcc
     1561 accacagata agcaaaaaag tccttgcatt caaagggttg gagattgctg ctttgagtgc
     1621 tgggtacctg tggggaacct actactccct gggccttagt ctcccaaatc caccatgcat
     1681 ctgcccctct gagggtgtct tcactttgtc tctggcatct agcatggtgc ctggtgcata
     1741 gtgagcatgc aataaatatt tggcaggtga gtggatggat agatggatag gtgaatgtag
     1801 gtggacaggt gactgggtgg atgttgtggt ctctggagaa gcactgccat tcagcctcct
     1861 gctccagctg ttcacatgca gaaatgctct cttcacaggc agagaagcct gtggctaaag
     1921 tttccacatc ccattaactc agtgcttttg tctttttcat gacatggcac atagagaaaa
     1981 tatttttttc tagcacacaa gagcaacctg aaaggctgct cctggccaga ggactctgtc
     2041 ccgggggacc gtgtcctccc ccatgtcctg cctaggccct cagaggacca ggggatcatg
     2101 tctccaggta acccgactgt agcccctgct ggctgagctc cagcctgtgc ccactgataa
     2161 tagcagggac ggccttttct cttagagcag ctgataagtt tccctacctg atggccccct
     2221 ctgacataaa ctgcacacct ggggtgatgg cttaaagcca gaaagagctg agggagttaa
     2281 gagggccaac cttagggcac gtgggcatta ttaaaggtct taaaagca
//
