LOCUS       NM_001098635            4190 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens seizure related 6 homolog (SEZ6), transcript variant
            2, mRNA.
ACCESSION   NM_001098635
VERSION     NM_001098635.2
KEYWORDS    RefSeq.
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 4190)
  AUTHORS   Deng,Y., Zhou,Y., Shi,J., Yang,J., Huang,H., Zhang,M., Wang,S.,
            Ma,Q., Liu,Y., Li,B., Yan,J. and Yang,H.
  TITLE     Potential genetic biomarkers predict adverse pregnancy outcome
            during early and mid-pregnancy in women with systemic lupus
            erythematosus
  JOURNAL   Front Endocrinol (Lausanne) 13, 957010 (2022)
   PUBMED   36465614
  REMARK    GeneRIF: Potential genetic biomarkers predict adverse pregnancy
            outcome during early and mid-pregnancy in women with systemic lupus
            erythematosus.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4190)
  AUTHORS   Bharadwaj,T., Schrauwen,I., Rehman,S., Liaqat,K., Acharya,A.,
            Giese,A.P.J., Nouel-Saied,L.M., Nasir,A., Everard,J.L.,
            Pollock,L.M., Zhu,S., Bamshad,M.J., Nickerson,D.A., Ali,R.H.,
            Ullah,A., Wali,A., Ali,G., Santos-Cortez,R.L.P., Ahmed,Z.M.,
            McDermott,B.M. Jr., Ansar,M., Riazuddin,S., Ahmad,W. and Leal,S.M.
  TITLE     ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal
            recessive nonsyndromic hearing impairment
  JOURNAL   Eur J Hum Genet 30 (1), 22-33 (2022)
   PUBMED   34135477
  REMARK    GeneRIF: ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for
            autosomal recessive nonsyndromic hearing impairment.
REFERENCE   3  (bases 1 to 4190)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 4190)
  AUTHORS   Paracchini,L., Beltrame,L., Boeri,L., Fusco,F., Caffarra,P.,
            Marchini,S., Albani,D. and Forloni,G.
  TITLE     Exome sequencing in an Italian family with Alzheimer's disease
            points to a role for seizure-related gene 6 (SEZ6) rare variant
            R615H
  JOURNAL   Alzheimers Res Ther 10 (1), 106 (2018)
   PUBMED   30309378
  REMARK    GeneRIF: Study describes a targeted exome sequencing analysis of a
            large Italian kindred with Alzheimer disease, negative for PSEN and
            APP variants, that indicated the SEZ6 heterozygous mutation R615H
            is associated with the pathology.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4190)
  AUTHORS   Yu,Z.L., Jiang,J.M., Wu,D.H., Xie,H.J., Jiang,J.J., Zhou,L.,
            Peng,L. and Bao,G.S.
  TITLE     Febrile seizures are associated with mutation of seizure-related
            (SEZ) 6, a brain-specific gene
  JOURNAL   J Neurosci Res 85 (1), 166-172 (2007)
   PUBMED   17086543
  REMARK    GeneRIF: The human SEZ-6 gene is related to the occurrence and
            development of FS and may be a novel candidate gene for epilepsy.
            Screening for mutations in SEZ-6 may be valuable in predicting FS
            recurrence or the development of epilepsy.
REFERENCE   6  (bases 1 to 4190)
  AUTHORS   Kim,M.H., Gunnersen,J.M. and Tan,S.S.
  TITLE     Localized expression of the seizure-related gene SEZ-6 in
            developing and adult forebrains
  JOURNAL   Mech Dev 118 (1-2), 171-174 (2002)
   PUBMED   12351182
REFERENCE   7  (bases 1 to 4190)
  AUTHORS   Shimizu-Nishikawa,K., Kajiwara,K. and Sugaya,E.
  TITLE     Cloning and characterization of seizure-related gene, SEZ-6
  JOURNAL   Biochem Biophys Res Commun 216 (1), 382-389 (1995)
   PUBMED   7488116
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DA123986.1, AL834405.1 and
            BC069260.1.
            
            On May 31, 2019 this sequence version replaced NM_001098635.1.
            
            Summary: The protein encoded by this gene is thought to contain
            five cysteine-rich motifs that are similar to sushi domains, as
            well as two domains similar to the amino terminal half of the CUB
            (for complement C1r/C1s, Uegf, Bmp1) domain. Mutations in this gene
            have been associated with febrile seizures. [provided by RefSeq,
            Jul 2016].
            
            Transcript Variant: This variant (2) uses an alternate splice
            junction at the 5' end of the last exon compared to variant 1, that
            causes a frameshift. The resulting isoform (2) has a shorter and
            distinct C-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            RNAseq introns :: single sample supports all introns SAMEA2157437
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            inferred exon combination :: based on alignments, homology
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-225               DA123986.1         31-255
            226-3151            AL834405.1         1-2926
            3152-4190           BC069260.1         18-1056
FEATURES             Location/Qualifiers
     source          1..4190
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..4190
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /note="seizure related 6 homolog"
                     /db_xref="GeneID:124925"
                     /db_xref="HGNC:HGNC:15955"
                     /db_xref="MIM:616666"
     exon            1..219
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     CDS             165..3146
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; seizure protein 6 homolog"
                     /codon_start=1
                     /product="seizure protein 6 homolog isoform 2 precursor"
                     /protein_id="NP_001092105.1"
                     /db_xref="CCDS:CCDS45638.1"
                     /db_xref="GeneID:124925"
                     /db_xref="HGNC:HGNC:15955"
                     /db_xref="MIM:616666"
                     /translation="MRPVALLLLPSLLALLAHGLSLEAPTVGKGQAPGIEETDGELTA
                     APTPEQPERGVHFVTTAPTLKLLNHHPLLEEFLQEGLEKGDEELRPALPFQPDPPAPF
                     TPSPLPRLANQDSRPVFTSPTPAMAAVPTQPQSKEGPWSPESESPMLRITAPLPPGPS
                     MAVPTLGPGEIASTTPPSRAWTPTQEGPGDMGRPWVAEVVSQGAGIGIQGTITSSTAS
                     GDDEETTTTTTIITTTITTVQTPGPCSWNFSGPEGSLDSPTDLSSPTDVGLDCFFYIS
                     VYPGYGVEIKVQNISLREGETVTVEGLGGPDPLPLANQSFLLRGQVIRSPTHQAALRF
                     QSLPPPAGPGTFHFHYQAYLLSCHFPRRPAYGDVTVTSLHPGGSARFHCATGYQLKGA
                     RHLTCLNATQPFWDSKEPVCIAACGGVIRNATTGRIVSPGFPGNYSNNLTCHWLLEAP
                     EGQRLHLHFEKVSLAEDDDRLIIRNGDNVEAPPVYDSYEVEYLPIEGLLSSGKHFFVE
                     LSTDSSGAAAGMALRYEAFQQGHCYEPFVKYGNFSSSTPTYPVGTTVEFSCDPGYTLE
                     QGSIIIECVDPHDPQWNETEPACRAVCSGEITDSAGVVLSPNWPEPYGRGQDCIWGVH
                     VEEDKRIMLDIRVLRIGPGDVLTFYDGDDLTARVLGQYSGPRSHFKLFTSMADVTIQF
                     QSDPGTSVLGYQQGFVIHFFEVPRNDTCPELPEIPNGWKSPSQPELVHGTVVTYQCYP
                     GYQVVGSSVLMCQWDLTWSEDLPSCQRVTSCHDPGDVEHSRRLISSPKFPVGATVQYI
                     CDQGFVLMGSSILTCHDRQAGSPKWSDRAPKCLLEQLKPCHGLSAPENGARSPEKQLH
                     PAGATIHFSCAPGYVLKGQASIKCVPGHPSHWSDPPPICRAASLDGFYNSRSLDVAKA
                     PAASSTLDAAHIAAAIFLPLVAMVLLVGGVYFYFSRLQGKSSLQLPRPRPRPYNRITI
                     ESAFDNPTYETGETREYEVSI"
     exon            220..888
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            889..1022
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            1023..1218
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            1219..1404
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            1405..1573
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..1740
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            1741..1935
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            1936..2074
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            2075..2271
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            2272..2466
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            2467..2658
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            2659..2856
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            2857..2895
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            2896..3013
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            3014..3116
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            3117..4190
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4089..4094
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /note="hexamer: ATTATA"
     polyA_site      4122
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /note="major polyA site"
ORIGIN      
        1 gtggtgctga ttctgtcagg cgctggcggc ggcagcggcg gtgacggctg cggccccgct
       61 ccctctaccc ggccggaccc ggctctgccc ccgcgcccaa gccccaccaa gccccccgcc
      121 ctcccgccgc ggtcccagcc cagggcgcgg ccgcaaccag caccatgcgc ccggtagccc
      181 tgctgctcct gccctcgctg ctggcgctcc tggctcacgg actctcttta gaggccccaa
      241 ccgtggggaa aggacaagcc ccaggcatcg aggagacaga tggcgagctg acagcagccc
      301 ccacacctga gcagccagaa cgaggcgtcc actttgtcac aacagccccc accttgaagc
      361 tgctcaacca ccacccgctg cttgaggaat tcctacaaga ggggctggaa aagggagatg
      421 aggagctgag gccagcactg cccttccagc ctgacccacc tgcacccttc accccaagtc
      481 cccttccccg cctggccaac caggacagcc gccctgtctt taccagcccc actccagcca
      541 tggctgcggt acccactcag ccccagtcca aggagggacc ctggagtccg gagtcagagt
      601 cccctatgct tcgaatcaca gctcccctac ctccagggcc cagcatggca gtgcccaccc
      661 taggcccagg ggagatagcc agcactacac cccccagcag agcctggaca ccaacccaag
      721 agggtcctgg agacatggga aggccgtggg ttgcagaggt tgtgtcccag ggcgcaggga
      781 tcgggatcca ggggaccatc acctcctcca cagcttcagg agatgatgag gagaccacca
      841 ctaccaccac catcatcacc accaccatca ccacagtcca gacaccaggc ccttgtagct
      901 ggaatttctc aggcccagag ggctctctgg actcccctac agacctcagc tcccccactg
      961 atgttggcct ggactgcttc ttctacatct ctgtctaccc tggctatggc gtggaaatca
     1021 aggtccagaa tatcagcctc cgggaagggg agacagtgac tgtggaaggc ctgggggggc
     1081 ctgacccact gcccctggcc aaccagtctt tcctgctgcg gggccaagtc atccgcagcc
     1141 ccacccacca agcggccctg aggttccaga gcctcccgcc accggctggc cctggcacct
     1201 tccatttcca ttaccaagcc tatctcctga gctgccactt tccccgtcgt ccagcttatg
     1261 gagatgtgac tgtcaccagc ctccacccag ggggtagtgc ccgcttccat tgtgccactg
     1321 gctaccagct gaagggcgcc aggcatctca cctgtctcaa tgccacccag cccttctggg
     1381 attcaaagga gcccgtctgc atcgctgctt gcggcggagt gatccgcaat gccaccaccg
     1441 gccgcatcgt ctctccaggc ttcccgggca actacagcaa caacctcacc tgtcactggc
     1501 tgcttgaggc tcctgagggc cagcggctac acctgcactt tgagaaggtt tccctggcag
     1561 aggatgatga caggctcatc attcgcaatg gggacaacgt ggaggcccca ccagtgtatg
     1621 attcctatga ggtggaatac ctgcccattg agggcctgct cagctctggc aaacacttct
     1681 ttgttgagct cagtactgac agcagcgggg cagctgcagg catggccctg cgctatgagg
     1741 ccttccagca gggccattgc tatgagccct ttgtcaaata cggtaacttc agcagcagca
     1801 cacccaccta ccctgtgggt accactgtgg agttcagctg cgaccctggc tacaccctgg
     1861 agcagggctc catcatcatc gagtgtgttg acccccacga cccccagtgg aatgagacag
     1921 agccagcctg ccgagccgtg tgcagcgggg agatcacaga ctcggctggc gtggtactct
     1981 ctcccaactg gccagagccc tacggtcgtg ggcaggattg tatctggggt gtgcatgtgg
     2041 aagaggacaa gcgcatcatg ctggacatcc gagtgctgcg cataggccct ggtgatgtgc
     2101 ttaccttcta tgatggggat gacctgacgg cccgggttct gggccagtac tcagggcccc
     2161 gtagccactt caagctcttt acctccatgg ctgatgtcac cattcagttc cagtcggacc
     2221 ccgggacctc agtgctgggc taccagcagg gcttcgtcat ccacttcttt gaggtgcccc
     2281 gcaatgacac atgtccggag ctgcctgaga tccccaatgg ctggaagagc ccatcgcagc
     2341 ctgagctagt gcacggcacc gtggtcactt accagtgcta ccctggctac caggtagtgg
     2401 gatccagtgt cctcatgtgc cagtgggacc taacttggag tgaggacctg ccctcatgcc
     2461 agagggtgac ttcctgccac gatcctggag atgtggagca cagccgacgc ctcatatcca
     2521 gccccaagtt tcccgtgggg gccaccgtgc aatatatctg tgaccagggt tttgtgctga
     2581 tgggcagctc catcctcacc tgccatgatc gccaggctgg cagccccaag tggagtgacc
     2641 gggcccctaa atgtctcctg gaacagctca agccatgcca tggtctcagt gcccctgaga
     2701 atggtgcccg aagtcctgag aagcagctac acccagcagg ggccaccatc cacttctcgt
     2761 gtgcccctgg ctatgtgctg aagggccagg ccagcatcaa gtgtgtgcct gggcacccct
     2821 cgcattggag tgacccccca cccatctgta gggctgcctc tctggatggg ttctacaaca
     2881 gtcgcagcct ggatgttgcc aaggcacctg ctgcctccag caccctggat gctgcccaca
     2941 ttgcagctgc catcttcttg ccactggtgg cgatggtgtt gttggtagga ggtgtatact
     3001 tctacttctc caggctccag ggaaaaagct ccctgcagct gccccgcccc cgcccccgcc
     3061 cctacaaccg cattaccata gagtcagcgt ttgacaatcc aacttacgag actggagaga
     3121 cgagagaata tgaagtctcc atctaggtgg gggcagtcta gggaagtcaa ctcagacttg
     3181 caccacagtc cagcagcaag gctccttgct tcctgctgtc cctccacctc ctgtatatac
     3241 cacctaggag gagatgccac caagccctca agaagttgtg cccttccccg cctgcgatgc
     3301 ccaccatggc ctattttctt ggtgtcattg cccacttggg gcccttcatt gggcccatgt
     3361 cagggggcat ctacctgtgg gaagaacata gctggagcac aagcatcaac agccagcatc
     3421 ctgagcctcc tcatgccctg gaccagcctg gaacacacta gcagagcagg agtacctttc
     3481 tccacatgac caccatcccg ccctggcatg gcaacctgca gcaggattaa cttgaccatg
     3541 gtgggaactg caccagggta ctcctcacag cgccatcacc aatggccaaa actcctctca
     3601 acggtgacct ctgggtagtc ctggcatgcc aacatcagcc tcttgggagg tctctagttc
     3661 tctaaagttc tggacagttc tgcctcctgc cctgtcccag tggaggcagt aattctagga
     3721 gatcctaagg ggttcagggg gaccctaccc ccacctcagg ttgggcttcc ctgggcactc
     3781 atgctccaca ccaaagcagg acacgccatt ttccactgac caccctatac cctgaggaaa
     3841 gggagacttt cctccgatgt ttatttagct gttgcaaaca tcttcaccct aatagtccct
     3901 cctccaattc cagccacttg tcaggctctc ctcttgacca ctgtgttatg ggataagggg
     3961 agggggtggg catattctgg agaggagcag aggtccaagg acccaggaat ttggcatgga
     4021 acaggtggta ggagagcccc agggagacgc ccaggagctg gctgaaagcc actttgtaca
     4081 tgtaatgtat tatatggggt ctgggctcca gccagagaac aatcttttat ttctgttgtt
     4141 tccttattaa aatggtgttt ttggaaaaaa aaaaaaaaaa aaaaaaaaaa
//
