LOCUS       NM_001290202            4072 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens seizure related 6 homolog (SEZ6), transcript variant
            3, mRNA.
ACCESSION   NM_001290202
VERSION     NM_001290202.2
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 4072)
  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 4072)
  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 4072)
  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 4072)
  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 4072)
  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 4072)
  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 4072)
  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 AK091522.1 and BC069260.1.
            
            On Aug 13, 2020 this sequence version replaced NM_001290202.1.
            
            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 (3) has an alternate exon in place
            of the first exon and initiates translation at a downstream start
            codon compared to variant 1, The resulting isoform (3) is shorter
            at the N-terminus compared to isoform 1.
            
            ##Evidence-Data-START##
            CDS exon combination :: SRR1803611.43733.1 [ECO:0000331]
            RNAseq introns       :: mixed sample support SAMEA1966682,
                                    SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-3677              AK091522.1         1-3677
            3678-4072           BC069260.1         662-1056
FEATURES             Location/Qualifiers
     source          1..4072
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     gene            1..4072
                     /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..85
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            86..754
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     CDS             406..3015
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /note="isoform 3 is encoded by transcript variant 3;
                     seizure protein 6 homolog"
                     /codon_start=1
                     /product="seizure protein 6 homolog isoform 3"
                     /protein_id="NP_001277131.1"
                     /db_xref="GeneID:124925"
                     /db_xref="HGNC:HGNC:15955"
                     /db_xref="MIM:616666"
                     /translation="MAAVPTQPQSKEGPWSPESESPMLRITAPLPPGPSMAVPTLGPG
                     EIASTTPPSRAWTPTQEGPGDMGRPWVAEVVSQGAGIGIQGTITSSTASGDDEETTTT
                     TTIITTTITTVQTPGPCSWNFSGPEGSLDSPTDLSSPTDVGLDCFFYISVYPGYGVEI
                     KVQNISLREGETVTVEGLGGPDPLPLANQSFLLRGQVIRSPTHQAALRFQSLPPPAGP
                     GTFHFHYQAYLLSCHFPRRPAYGDVTVTSLHPGGSARFHCATGYQLKGARHLTCLNAT
                     QPFWDSKEPVCIAACGGVIRNATTGRIVSPGFPGNYSNNLTCHWLLEAPEGQRLHLHF
                     EKVSLAEDDDRLIIRNGDNVEAPPVYDSYEVEYLPIEGLLSSGKHFFVELSTDSSGAA
                     AGMALRYEAFQQGHCYEPFVKYGNFSSSTPTYPVGTTVEFSCDPGYTLEQGSIIIECV
                     DPHDPQWNETEPACRAVCSGEITDSAGVVLSPNWPEPYGRGQDCIWGVHVEEDKRIML
                     DIRVLRIGPGDVLTFYDGDDLTARVLGQYSGPRSHFKLFTSMADVTIQFQSDPGTSVL
                     GYQQGFVIHFFEVPRNDTCPELPEIPNGWKSPSQPELVHGTVVTYQCYPGYQVVGSSV
                     LMCQWDLTWSEDLPSCQRVTSCHDPGDVEHSRRLISSPKFPVGATVQYICDQGFVLMG
                     SSILTCHDRQAGSPKWSDRAPKCLLEQLKPCHGLSAPENGARSPEKQLHPAGATIHFS
                     CAPGYVLKGQASIKCVPGHPSHWSDPPPICRAASLDGFYNSRSLDVAKAPAASSTLDA
                     AHIAAAIFLPLVAMVLLVGGVYFYFSRLQGKSSLQLPRPRPRPYNRITIESAFDNPTY
                     ETGSLSFAGDERI"
     exon            755..888
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            889..1084
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            1085..1270
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            1271..1439
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            1440..1606
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            1607..1801
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            1802..1940
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            1941..2137
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            2138..2332
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            2333..2524
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            2525..2722
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            2723..2761
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            2762..2879
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            2880..2982
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     exon            2983..4072
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3971..3976
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /note="hexamer: ATTATA"
     polyA_site      4004
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /note="major polyA site"
ORIGIN      
        1 aagacggaac tgccacaagg gcacgcgggc ctcaccagct gcctcactct cggatgtctt
       61 cccaggtcac ccttgacgcc ctcaggactc tctttagagg ccccaaccgt ggggaaagga
      121 caagccccag gcatcgagga gacagatggc gagctgacag cagcccccac acctgagcag
      181 ccagaacgag gcgtccactt tgtcacaaca gcccccacct tgaagctgct caaccaccac
      241 ccgctgcttg aggaattcct acaagagggg ctggaaaagg gagatgagga gctgaggcca
      301 gcactgccct tccagcctga cccacctgca cccttcaccc caagtcccct tccccgcctg
      361 gccaaccagg acagccgccc tgtctttacc agccccactc cagccatggc tgcggtaccc
      421 actcagcccc agtccaagga gggaccctgg agtccggagt cagagtcccc tatgcttcga
      481 atcacagctc ccctacctcc agggcccagc atggcagtgc ccaccctagg cccaggggag
      541 atagccagca ctacaccccc cagcagagcc tggacaccaa cccaagaggg tcctggagac
      601 atgggaaggc cgtgggttgc agaggttgtg tcccagggcg cagggatcgg gatccagggg
      661 accatcacct cctccacagc ttcaggagat gatgaggaga ccaccactac caccaccatc
      721 atcaccacca ccatcaccac agtccagaca ccaggccctt gtagctggaa tttctcaggc
      781 ccagagggct ctctggactc ccctacagac ctcagctccc ccactgatgt tggcctggac
      841 tgcttcttct acatctctgt ctaccctggc tatggcgtgg aaatcaaggt ccagaatatc
      901 agcctccggg aaggggagac agtgactgtg gaaggcctgg gggggcctga cccactgccc
      961 ctggccaacc agtctttcct gctgcggggc caagtcatcc gcagccccac ccaccaagcg
     1021 gccctgaggt tccagagcct cccgccaccg gctggccctg gcaccttcca tttccattac
     1081 caagcctatc tcctgagctg ccactttccc cgtcgtccag cttatggaga tgtgactgtc
     1141 accagcctcc acccaggggg tagtgcccgc ttccattgtg ccactggcta ccagctgaag
     1201 ggcgccaggc atctcacctg tctcaatgcc acccagccct tctgggattc aaaggagccc
     1261 gtctgcatcg ctgcttgcgg cggagtgatc cgcaatgcca ccaccggccg catcgtctct
     1321 ccaggcttcc cgggcaacta cagcaacaac ctcacctgtc actggctgct tgaggctcct
     1381 gagggccagc ggctacacct gcactttgag aaggtttccc tggcagagga tgatgacagg
     1441 ctcatcattc gcaatgggga caacgtggag gccccaccag tgtatgattc ctatgaggtg
     1501 gaatacctgc ccattgaggg cctgctcagc tctggcaaac acttctttgt tgagctcagt
     1561 actgacagca gcggggcagc tgcaggcatg gccctgcgct atgaggcctt ccagcagggc
     1621 cattgctatg agccctttgt caaatacggt aacttcagca gcagcacacc cacctaccct
     1681 gtgggtacca ctgtggagtt cagctgcgac cctggctaca ccctggagca gggctccatc
     1741 atcatcgagt gtgttgaccc ccacgacccc cagtggaatg agacagagcc agcctgccga
     1801 gccgtgtgca gcggggagat cacagactcg gctggcgtgg tactctctcc caactggcca
     1861 gagccctacg gtcgtgggca ggattgtatc tggggtgtgc atgtggaaga ggacaagcgc
     1921 atcatgctgg acatccgagt gctgcgcata ggccctggtg atgtgcttac cttctatgat
     1981 ggggatgacc tgacggcccg ggttctgggc cagtactcag ggccccgtag ccacttcaag
     2041 ctctttacct ccatggctga tgtcaccatt cagttccagt cggaccccgg gacctcagtg
     2101 ctgggctacc agcagggctt cgtcatccac ttctttgagg tgccccgcaa tgacacatgt
     2161 ccggagctgc ctgagatccc caatggctgg aagagcccat cgcagcctga gctagtgcac
     2221 ggcaccgtgg tcacttacca gtgctaccct ggctaccagg tagtgggatc cagtgtcctc
     2281 atgtgccagt gggacctaac ttggagtgag gacctgccct catgccagag ggtgacttcc
     2341 tgccacgatc ctggagatgt ggagcacagc cgacgcctca tatccagccc caagtttccc
     2401 gtgggggcca ccgtgcaata tatctgtgac cagggttttg tgctgatggg cagctccatc
     2461 ctcacctgcc atgatcgcca ggctggcagc cccaagtgga gtgaccgggc ccctaaatgt
     2521 ctcctggaac agctcaagcc atgccatggt ctcagtgccc ctgagaatgg tgcccgaagt
     2581 cctgagaagc agctacaccc agcaggggcc accatccact tctcgtgtgc ccctggctat
     2641 gtgctgaagg gccaggccag catcaagtgt gtgcctgggc acccctcgca ttggagtgac
     2701 cccccaccca tctgtagggc tgcctctctg gatgggttct acaacagtcg cagcctggat
     2761 gttgccaagg cacctgctgc ctccagcacc ctggatgctg cccacattgc agctgccatc
     2821 ttcttgccac tggtggcgat ggtgttgttg gtaggaggtg tatacttcta cttctccagg
     2881 ctccagggaa aaagctccct gcagctgccc cgcccccgcc cccgccccta caaccgcatt
     2941 accatagagt cagcgtttga caatccaact tacgagactg gatctctttc ctttgcagga
     3001 gacgagagaa tatgaagtct ccatctaggt gggggcagtc tagggaagtc aactcagact
     3061 tgcaccacag tccagcagca aggctccttg cttcctgctg tccctccacc tcctgtatat
     3121 accacctagg aggagatgcc accaagccct caagaagttg tgcccttccc cgcctgcgat
     3181 gcccaccatg gcctattttc ttggtgtcat tgcccacttg gggcccttca ttgggcccat
     3241 gtcagggggc atctacctgt gggaagaaca tagctggagc acaagcatca acagccagca
     3301 tcctgagcct cctcatgccc tggaccagcc tggaacacac tagcagagca ggagtacctt
     3361 tctccacatg accaccatcc cgccctggca tggcaacctg cagcaggatt aacttgacca
     3421 tggtgggaac tgcaccaggg tactcctcac agcgccatca ccaatggcca aaactcctct
     3481 caacggtgac ctctgggtag tcctggcatg ccaacatcag cctcttggga ggtctctagt
     3541 tctctaaagt tctggacagt tctgcctcct gccctgtccc agtggaggca gtaattctag
     3601 gagatcctaa ggggttcagg gggaccctac ccccacctca ggttgggctt ccctgggcac
     3661 tcatgctcca caccaaagca ggacacgcca ttttccactg accaccctat accctgagga
     3721 aagggagact ttcctccgat gtttatttag ctgttgcaaa catcttcacc ctaatagtcc
     3781 ctcctccaat tccagccact tgtcaggctc tcctcttgac cactgtgtta tgggataagg
     3841 ggagggggtg ggcatattct ggagaggagc agaggtccaa ggacccagga atttggcatg
     3901 gaacaggtgg taggagagcc ccagggagac gcccaggagc tggctgaaag ccactttgta
     3961 catgtaatgt attatatggg gtctgggctc cagccagaga acaatctttt atttctgttg
     4021 tttccttatt aaaatggtgt ttttggaaaa aaaaaaaaaa aaaaaaaaaa aa
//
