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 //