LOCUS       NM_001143764            1255 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens synaptonemal complex central element protein 1
            (SYCE1), transcript variant 4, mRNA.
ACCESSION   NM_001143764
VERSION     NM_001143764.3
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  (bases 1 to 1255)
  AUTHORS   Pal,S., Paladhi,P., Dutta,S., Mullick,R.B., Bose,G., Ghosh,P.,
            Chattopadhyay,R. and Ghosh,S.
  TITLE     Novel Mutations Reduce Expression of Meiotic Regulators SYCE1 and
            BOLL in Testis of Azoospermic Men from West Bengal, India
  JOURNAL   Reprod Sci 31 (4), 1069-1088 (2024)
   PUBMED   37957469
  REMARK    GeneRIF: Novel Mutations Reduce Expression of Meiotic Regulators
            SYCE1 and BOLL in Testis of Azoospermic Men from West Bengal,
            India.
REFERENCE   2  (bases 1 to 1255)
  AUTHORS   Kim,D.K., Weller,B., Lin,C.W., Sheykhkarimli,D., Knapp,J.J.,
            Dugied,G., Zanzoni,A., Pons,C., Tofaute,M.J., Maseko,S.B.,
            Spirohn,K., Laval,F., Lambourne,L., Kishore,N., Rayhan,A.,
            Sauer,M., Young,V., Halder,H., la Rosa,N.M., Pogoutse,O.,
            Strobel,A., Schwehn,P., Li,R., Rothballer,S.T., Altmann,M.,
            Cassonnet,P., Cote,A.G., Vergara,L.E., Hazelwood,I., Liu,B.B.,
            Nguyen,M., Pandiarajan,R., Dohai,B., Coloma,P.A.R., Poirson,J.,
            Giuliana,P., Willems,L., Taipale,M., Jacob,Y., Hao,T., Hill,D.E.,
            Brun,C., Twizere,J.C., Krappmann,D., Heinig,M., Falter,C., Aloy,P.,
            Demeret,C., Vidal,M., Calderwood,M.A., Roth,F.P. and
            Falter-Braun,P.
  TITLE     A proteome-scale map of the SARS-CoV-2-human contactome
  JOURNAL   Nat Biotechnol 41 (1), 140-149 (2023)
   PUBMED   36217029
REFERENCE   3  (bases 1 to 1255)
  AUTHORS   Huang,Y., Tian,R., Xu,J., Ji,Z., Zhang,Y., Zhao,L., Yang,C., Li,P.,
            Zhi,E., Bai,H., Han,S., Luo,J., Zhao,J., Zhang,J., Zhou,Z., Li,Z.
            and Yao,C.
  TITLE     Novel copy number variations within SYCE1 caused meiotic arrest and
            non-obstructive azoospermia
  JOURNAL   BMC Med Genomics 15 (1), 137 (2022)
   PUBMED   35718780
  REMARK    GeneRIF: Novel copy number variations within SYCE1 caused meiotic
            arrest and non-obstructive azoospermia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1255)
  AUTHORS   An,M., Liu,Y., Zhang,M., Hu,K., Jin,Y., Xu,S., Wang,H. and Lu,M.
  TITLE     Targeted next-generation sequencing panel screening of 668 Chinese
            patients with non-obstructive azoospermia
  JOURNAL   J Assist Reprod Genet 38 (8), 1997-2005 (2021)
   PUBMED   33728612
  REMARK    GeneRIF: Targeted next-generation sequencing panel screening of 668
            Chinese patients with non-obstructive azoospermia.
REFERENCE   5  (bases 1 to 1255)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   6  (bases 1 to 1255)
  AUTHORS   Maor-Sagie,E., Cinnamon,Y., Yaacov,B., Shaag,A., Goldsmidt,H.,
            Zenvirt,S., Laufer,N., Richler,C. and Frumkin,A.
  TITLE     Deleterious mutation in SYCE1 is associated with non-obstructive
            azoospermia
  JOURNAL   J Assist Reprod Genet 32 (6), 887-891 (2015)
   PUBMED   25899990
  REMARK    GeneRIF: A mutation in SYCE1 is associated with non-obstructive
            azoospermia.
REFERENCE   7  (bases 1 to 1255)
  AUTHORS   Sahni,N., Yi,S., Taipale,M., Fuxman Bass,J.I.,
            Coulombe-Huntington,J., Yang,F., Peng,J., Weile,J., Karras,G.I.,
            Wang,Y., Kovacs,I.A., Kamburov,A., Krykbaeva,I., Lam,M.H.,
            Tucker,G., Khurana,V., Sharma,A., Liu,Y.Y., Yachie,N., Zhong,Q.,
            Shen,Y., Palagi,A., San-Miguel,A., Fan,C., Balcha,D., Dricot,A.,
            Jordan,D.M., Walsh,J.M., Shah,A.A., Yang,X., Stoyanova,A.K.,
            Leighton,A., Calderwood,M.A., Jacob,Y., Cusick,M.E.,
            Salehi-Ashtiani,K., Whitesell,L.J., Sunyaev,S., Berger,B.,
            Barabasi,A.L., Charloteaux,B., Hill,D.E., Hao,T., Roth,F.P.,
            Xia,Y., Walhout,A.J.M., Lindquist,S. and Vidal,M.
  TITLE     Widespread macromolecular interaction perturbations in human
            genetic disorders
  JOURNAL   Cell 161 (3), 647-660 (2015)
   PUBMED   25910212
REFERENCE   8  (bases 1 to 1255)
  AUTHORS   de Vries,L., Behar,D.M., Smirin-Yosef,P., Lagovsky,I., Tzur,S. and
            Basel-Vanagaite,L.
  TITLE     Exome sequencing reveals SYCE1 mutation associated with autosomal
            recessive primary ovarian insufficiency
  JOURNAL   J Clin Endocrinol Metab 99 (10), E2129-E2132 (2014)
   PUBMED   25062452
  REMARK    GeneRIF: Given the known function of the SYCE1 gene, we suggest
            that the nonsense mutation identified accounts for the primary
            ovarian insufficiency phenotype.
REFERENCE   9  (bases 1 to 1255)
  AUTHORS   Fraune,J., Brochier-Armanet,C., Alsheimer,M. and Benavente,R.
  TITLE     Phylogenies of central element proteins reveal the dynamic
            evolutionary history of the mammalian synaptonemal complex: ancient
            and recent components
  JOURNAL   Genetics 195 (3), 781-793 (2013)
   PUBMED   24026100
REFERENCE   10 (bases 1 to 1255)
  AUTHORS   Costa,Y., Speed,R., Ollinger,R., Alsheimer,M., Semple,C.A.,
            Gautier,P., Maratou,K., Novak,I., Hoog,C., Benavente,R. and
            Cooke,H.J.
  TITLE     Two novel proteins recruited by synaptonemal complex protein 1
            (SYCP1) are at the centre of meiosis
  JOURNAL   J Cell Sci 118 (Pt 12), 2755-2762 (2005)
   PUBMED   15944401
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB053356.1, AK314978.1,
            BC034821.1 and AL161645.14.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001143764.2.
            
            Summary: This gene encodes a member of the synaptonemal complex,
            which links homologous chromosomes during prophase I of meiosis.
            The tripartite structure of the complex is highly conserved amongst
            metazoans. It consists of two lateral elements and a central region
            formed by transverse elements and a central element. The protein
            encoded by this gene localizes to the central element and is
            required for initiation and elongation of the synapsis. Allelic
            variants of this gene have been associated with premature ovarian
            failure and spermatogenic failure. Alternative splicing results in
            multiple transcript variants. [provided by RefSeq, Nov 2016].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: GQ901041.1, BC034821.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1966682,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000343131.7/ ENSP00000341282.5
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-113               DB053356.1         52-164
            114-602             AK314978.1         115-603
            603-1015            BC034821.1         604-1016
            1016-1016           AL161645.14        139727-139727       c
            1017-1112           BC034821.1         1018-1113
            1113-1255           AL161645.14        139488-139630       c
FEATURES             Location/Qualifiers
     source          1..1255
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q26.3"
     gene            1..1255
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /note="synaptonemal complex central element protein 1"
                     /db_xref="GeneID:93426"
                     /db_xref="HGNC:HGNC:28852"
                     /db_xref="MIM:611486"
     exon            1..127
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /inference="alignment:Splign:2.1.0"
     CDS             55..1110
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /note="isoform 4 is encoded by transcript variant 4;
                     cancer/testis antigen 76; epididymis secretory sperm
                     binding protein"
                     /codon_start=1
                     /product="synaptonemal complex central element protein 1
                     isoform 4"
                     /protein_id="NP_001137236.1"
                     /db_xref="GeneID:93426"
                     /db_xref="HGNC:HGNC:28852"
                     /db_xref="MIM:611486"
                     /translation="MAGRSLTSKAEPTAGAVDRAEKAGGQDTSSQKIEDLMEMVQKLQ
                     KVGSLEPRVEVLINRINEVQQAKKKANKDLGEARTICEALQKELDSLHGEKVHLKEIL
                     SKKQETLRILRLHCQEKESEAHRKHTMLQECKERISALNLQIEEEKNKQRQLRLAFEE
                     QLEDLMGQHKDLWDFHMPERLAKEICALDSSKEQLLKEEKLVKATLEDVKHQLCSLCG
                     AEGPSTLDEGLFLRSQEAAATVQLFQEEHRKAEELLAAAAQRHQQLQQKCQQQQQKRQ
                     RLKEELEKHGMQVPAQAQSTQEEEAGPGDVASPKPLKGERPGAAHQAGPDVLIGQEDT
                     LHPDLSPRGFQEIKELF"
     exon            128..190
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /inference="alignment:Splign:2.1.0"
     exon            191..250
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /inference="alignment:Splign:2.1.0"
     exon            251..325
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /inference="alignment:Splign:2.1.0"
     exon            326..373
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /inference="alignment:Splign:2.1.0"
     exon            374..428
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /inference="alignment:Splign:2.1.0"
     exon            429..518
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /inference="alignment:Splign:2.1.0"
     exon            519..582
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /inference="alignment:Splign:2.1.0"
     exon            583..649
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /inference="alignment:Splign:2.1.0"
     exon            650..773
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /inference="alignment:Splign:2.1.0"
     exon            774..884
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /inference="alignment:Splign:2.1.0"
     exon            885..972
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /inference="alignment:Splign:2.1.0"
     exon            973..1255
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1234..1239
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /note="hexamer: AATAAA"
     polyA_site      1255
                     /gene="SYCE1"
                     /gene_synonym="C10orf94; CT76; POF12; SPGF15"
                     /note="major polyA site"
ORIGIN      
        1 aatcaccact ggaggctccc tcccgaggca ccctcgctgg cgagctgaga ggaaatggcg
       61 gggaggtccc tgacatcgaa ggccgagccc accgcaggag ccgtggacag ggctgagaag
      121 gccggagggc aggacacgtc ctcacagaaa attgaagact tgatggaaat ggtgcaaaag
      181 ctgcagaaag tgggaagcct agagccccga gttgaggtcc tgattaaccg gattaatgag
      241 gtccagcaag caaaaaagaa agccaataaa gacctaggag aggcccggac catctgtgag
      301 gccctgcaga aggaactgga ctcgctgcat ggagagaaag tacacctgaa ggagatcttg
      361 agcaaaaaac aagagaccct gaggatcctc cggctgcatt gccaggaaaa ggaaagtgag
      421 gcacacagga agcacaccat gttgcaggag tgcaaggaga gaatttctgc cctgaacttg
      481 cagattgaag aagagaagaa caaacagaga cagctgaggt tggcattcga ggaacagctg
      541 gaagatctga tgggccagca caaggacctc tgggacttcc acatgccaga gcggctggca
      601 aaggagattt gtgccctgga cagcagcaag gagcagctgc tcaaggaaga gaagctggtc
      661 aaggcgacac tggaagacgt gaagcatcag ctgtgctccc tgtgtggggc tgagggcccc
      721 tccacccttg atgagggact ctttctccgc agccaggagg ctgcagccac agtgcagctg
      781 tttcaggaag agcacaggaa ggctgaggag ctcctagcag ctgctgccca gcgccaccag
      841 cagctgcagc agaagtgcca acaacagcag cagaagcggc agaggctgaa ggaagagctg
      901 gaaaagcatg gaatgcaagt ccctgcccaa gcccagagca cacaagagga agaggctggc
      961 ccaggagatg tggccagtcc caagccccta aaaggagaaa gacctggagc tgcacaccaa
     1021 gcagggcctg atgtcctcat aggccaggag gacacactcc accccgacct tagcccaagg
     1081 ggctttcagg aaataaagga gctattttga tacagctaag tctactggtg aggagtaggg
     1141 gtcaggccca agatccccag tctcctgtga ctgattgaag ccttggcttg actctgcctc
     1201 ttggtctggg ccagaggtac atcacaggtt ttcaataaat gcttccttaa cctcc
//
