LOCUS       NP_849191                994 aa            linear   PRI 27-APR-2025
DEFINITION  seizure protein 6 homolog isoform 1 precursor [Homo sapiens].
ACCESSION   NP_849191
VERSION     NP_849191.3
DBSOURCE    REFSEQ: accession NM_178860.5
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  (residues 1 to 994)
  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  (residues 1 to 994)
  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  (residues 1 to 994)
  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  (residues 1 to 994)
  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  (residues 1 to 994)
  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  (residues 1 to 994)
  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  (residues 1 to 994)
  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, AK223620.1,
            AK125377.1 and BC069260.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 15, 2007 this sequence version replaced NP_849191.2.
            
            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 (1) represents the longest
            transcript and encodes the longest isoform (1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR18074969.2497474.1, AK223620.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000317338.17/ ENSP00000312942.11
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..994
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q11.2"
     Protein         1..994
                     /product="seizure protein 6 homolog isoform 1 precursor"
                     /note="seizure protein 6 homolog"
                     /calculated_mol_wt=105445
     sig_peptide     1..19
                     /inference="COORDINATES: ab initio prediction:SignalP:6.0"
                     /calculated_mol_wt=1999
     mat_peptide     20..994
                     /product="Seizure protein 6 homolog. /id=PRO_0000341346"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53EL9.2)"
                     /calculated_mol_wt=105445
     Region          28..50
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53EL9.2)"
     Region          <31..>188
                     /region_name="PHA03379"
                     /note="EBNA-3A; Provisional"
                     /db_xref="CDD:223066"
     Region          38..47
                     /region_name="O-glycosylated at two sites"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53EL9.2)"
     Region          59..63
                     /region_name="O-glycosylated at two sites"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53EL9.2)"
     Region          88..146
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53EL9.2)"
     Region          171..191
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53EL9.2)"
     Region          241..261
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53EL9.2)"
     Region          244..352
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cl00049"
                     /db_xref="CDD:412131"
     Site            order(252,254,256,284,289,322,347,349,351..352)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Site            289
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q53EL9.2)"
     Region          357..413
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(367,384)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Site            399
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q53EL9.2)"
     Region          416..526
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(425,427,429,456,461,496,521,523,525..526)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Site            436
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q53EL9.2)"
     Region          532..589
                     /region_name="Sushi"
                     /note="Sushi repeat (SCR repeat); pfam00084"
                     /db_xref="CDD:459664"
     Site            541
                     /site_type="glycosylation"
                     /note="N-linked (GlcNAc...) asparagine.
                     /evidence=ECO:0000255; propagated from
                     UniProtKB/Swiss-Prot (Q53EL9.2)"
     Region          593..702
                     /region_name="CUB"
                     /note="CUB domain; extracellular domain; present in
                     proteins mostly known to be involved in development; not
                     found in prokaryotes, plants and yeast; cd00041"
                     /db_xref="CDD:238001"
     Site            order(603,605,632,637,670,698,700,702)
                     /site_type="other"
                     /note="heterodimerization interface [polypeptide binding]"
                     /db_xref="CDD:238001"
     Region          <710..895
                     /region_name="PHA02927"
                     /note="secreted complement-binding protein; Provisional"
                     /db_xref="CDD:222943"
     Region          710..766
                     /region_name="CCP"
                     /note="Complement control protein (CCP) modules (aka short
                     consensus repeats SCRs or SUSHI repeats) have been
                     identified in several proteins of the complement system;
                     cd00033"
                     /db_xref="CDD:153056"
     Site            order(720,739)
                     /site_type="active"
                     /note="receptor-ligand interactions [active]"
                     /db_xref="CDD:153056"
     Site            926..946
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q53EL9.2)"
     CDS             1..994
                     /gene="SEZ6"
                     /gene_synonym="BSRPC"
                     /coded_by="NM_178860.5:165..3149"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1"
                     /db_xref="CCDS:CCDS45639.1"
                     /db_xref="GeneID:124925"
                     /db_xref="HGNC:HGNC:15955"
                     /db_xref="MIM:616666"
ORIGIN      
        1 mrpvallllp sllallahgl sleaptvgkg qapgieetdg eltaaptpeq pergvhfvtt
       61 aptlkllnhh plleeflqeg lekgdeelrp alpfqpdppa pftpsplprl anqdsrpvft
      121 sptpamaavp tqpqskegpw spesespmlr itaplppgps mavptlgpge iasttppsra
      181 wtptqegpgd mgrpwvaevv sqgagigiqg titsstasgd deetttttti itttittvqt
      241 pgpcswnfsg pegsldsptd lssptdvgld cffyisvypg ygveikvqni slregetvtv
      301 eglggpdplp lanqsfllrg qvirspthqa alrfqslppp agpgtfhfhy qayllschfp
      361 rrpaygdvtv tslhpggsar fhcatgyqlk garhltclna tqpfwdskep vciaacggvi
      421 rnattgrivs pgfpgnysnn ltchwlleap egqrlhlhfe kvslaedddr liirngdnve
      481 appvydsyev eylpieglls sgkhffvels tdssgaaagm alryeafqqg hcyepfvkyg
      541 nfssstptyp vgttvefscd pgytleqgsi iiecvdphdp qwnetepacr avcsgeitds
      601 agvvlspnwp epygrgqdci wgvhveedkr imldirvlri gpgdvltfyd gddltarvlg
      661 qysgprshfk lftsmadvti qfqsdpgtsv lgyqqgfvih ffevprndtc pelpeipngw
      721 kspsqpelvh gtvvtyqcyp gyqvvgssvl mcqwdltwse dlpscqrvts chdpgdvehs
      781 rrlisspkfp vgatvqyicd qgfvlmgssi ltchdrqags pkwsdrapkc lleqlkpchg
      841 lsapengars pekqlhpaga tihfscapgy vlkgqasikc vpghpshwsd pppicraasl
      901 dgfynsrsld vakapaasst ldaahiaaai flplvamvll vggvyfyfsr lqgksslqlp
      961 rprprpynri tiesafdnpt yetgslsfag deri
//
