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 //