LOCUS       NM_001048205            2276 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens REC8 meiotic recombination protein (REC8), transcript
            variant 2, mRNA.
ACCESSION   NM_001048205
VERSION     NM_001048205.2
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 2276)
  AUTHORS   Wang,Q., Fan,W., Hao,Z., Liang,B., Fan,M., Zhao,Z. and Li,Z.
  TITLE     REC8 regulates neuroblastoma cell proliferation, migration,
            invasion, and angiogenesis via STAT3/VEGF signaling
  JOURNAL   J Egypt Natl Canc Inst 35 (1), 41 (2023)
   PUBMED   38105365
  REMARK    GeneRIF: REC8 regulates neuroblastoma cell proliferation,
            migration, invasion, and angiogenesis via STAT3/VEGF signaling.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2276)
  AUTHORS   He,S., Liu,D. and Chen,Z.
  TITLE     REC8 inhibits proliferation, migration and invasion of breast
            cancer cells by targeting CDC20
  JOURNAL   Mol Med Rep 26 (1) (2022)
   PUBMED   35616161
  REMARK    GeneRIF: REC8 inhibits proliferation, migration and invasion of
            breast cancer cells by targeting CDC20.
REFERENCE   3  (bases 1 to 2276)
  AUTHORS   Tucker,E.J., Bell,K.M., Robevska,G., van den Bergen,J., Ayers,K.L.,
            Listyasari,N., Faradz,S.M., Dulon,J., Bakhshalizadeh,S.,
            Sreenivasan,R., Nouyou,B., Carre,W., Akloul,L., Duros,S.,
            Domin-Bernhard,M., Belaud-Rotureau,M.A., Touraine,P., Jaillard,S.
            and Sinclair,A.H.
  TITLE     Meiotic genes in premature ovarian insufficiency: variants in HROB
            and REC8 as likely genetic causes
  JOURNAL   Eur J Hum Genet 30 (2), 219-228 (2022)
   PUBMED   34707299
  REMARK    GeneRIF: Meiotic genes in premature ovarian insufficiency: variants
            in HROB and REC8 as likely genetic causes.
REFERENCE   4  (bases 1 to 2276)
  AUTHORS   Han,J., Bai,Y., Wang,J., Xie,X.L., Li,A.D., Ding,Q., Cui,Z.J.,
            Yin,J., Jiang,X.Y. and Jiang,H.Q.
  TITLE     REC8 promotes tumor migration, invasion and angiogenesis by
            targeting the PKA pathway in hepatocellular carcinoma
  JOURNAL   Clin Exp Med 21 (3), 479-492 (2021)
   PUBMED   33677646
  REMARK    GeneRIF: REC8 promotes tumor migration, invasion and angiogenesis
            by targeting the PKA pathway in hepatocellular carcinoma.
REFERENCE   5  (bases 1 to 2276)
  AUTHORS   Hou,H., Kyriacou,E., Thadani,R., Klutstein,M., Chapman,J.H. and
            Cooper,J.P.
  TITLE     Centromeres are dismantled by foundational meiotic proteins Spo11
            and Rec8
  JOURNAL   Nature 591 (7851), 671-676 (2021)
   PUBMED   33658710
  REMARK    GeneRIF: Centromeres are dismantled by foundational meiotic
            proteins Spo11 and Rec8.
REFERENCE   6  (bases 1 to 2276)
  AUTHORS   Xu,H., Beasley,M.D., Warren,W.D., van der Horst,G.T. and McKay,M.J.
  TITLE     Absence of mouse REC8 cohesin promotes synapsis of sister
            chromatids in meiosis
  JOURNAL   Dev Cell 8 (6), 949-961 (2005)
   PUBMED   15935783
  REMARK    GeneRIF: The mouse ortholog of REC8L1 is required for proper
            synapsis of homologous chromosomes during meiosis
REFERENCE   7  (bases 1 to 2276)
  AUTHORS   Prieto,I., Tease,C., Pezzi,N., Buesa,J.M., Ortega,S., Kremer,L.,
            Martinez,A., Martinez-A,C., Hulten,M.A. and Barbero,J.L.
  TITLE     Cohesin component dynamics during meiotic prophase I in mammalian
            oocytes
  JOURNAL   Chromosome Res 12 (3), 197-213 (2004)
   PUBMED   15125634
REFERENCE   8  (bases 1 to 2276)
  AUTHORS   Lee,J., Iwai,T., Yokota,T. and Yamashita,M.
  TITLE     Temporally and spatially selective loss of Rec8 protein from
            meiotic chromosomes during mammalian meiosis
  JOURNAL   J Cell Sci 116 (Pt 13), 2781-2790 (2003)
   PUBMED   12759374
REFERENCE   9  (bases 1 to 2276)
  AUTHORS   Schleiffer,A., Kaitna,S., Maurer-Stroh,S., Glotzer,M., Nasmyth,K.
            and Eisenhaber,F.
  TITLE     Kleisins: a superfamily of bacterial and eukaryotic SMC protein
            partners
  JOURNAL   Mol Cell 11 (3), 571-575 (2003)
   PUBMED   12667442
REFERENCE   10 (bases 1 to 2276)
  AUTHORS   Parisi,S., McKay,M.J., Molnar,M., Thompson,M.A., van der Spek,P.J.,
            van Drunen-Schoenmaker,E., Kanaar,R., Lehmann,E., Hoeijmakers,J.H.
            and Kohli,J.
  TITLE     Rec8p, a meiotic recombination and sister chromatid cohesion
            phosphoprotein of the Rad21p family conserved from fission yeast to
            humans
  JOURNAL   Mol Cell Biol 19 (5), 3515-3528 (1999)
   PUBMED   10207075
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DB294585.1 and BC010887.1.
            
            On Nov 23, 2018 this sequence version replaced NM_001048205.1.
            
            Summary: This gene encodes a member of the kleisin family of SMC
            (structural maintenance of chromosome) protein partners. The
            protein localizes to the axial elements of chromosomes during
            meiosis in both oocytes and spermatocytes. In the mouse, the
            homologous protein is a key component of the meiotic cohesion
            complex, which regulates sister chromatid cohesion and
            recombination between homologous chromosomes. Multiple
            alternatively spliced variants, encoding the same protein, have
            been found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1.
            
            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 :: SRR3476690.1037182.1,
                                           SRR1163657.68861.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000611366.5/ ENSP00000482439.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-641               DB294585.1         56-696
            642-2276            BC010887.1         630-2264
FEATURES             Location/Qualifiers
     source          1..2276
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     gene            1..2276
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /note="REC8 meiotic recombination protein"
                     /db_xref="GeneID:9985"
                     /db_xref="HGNC:HGNC:16879"
                     /db_xref="MIM:608193"
     exon            1..529
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     CDS             474..2117
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /note="recombination and sister chromatid cohesion protein
                     homolog; human homolog of rad21, S. pombe; meiotic
                     recombination protein REC8-like 1; cohesion rec8p; meiotic
                     recombination and sister chromatid cohesion phosphoprotein
                     of the rad21p family; cohesin Rec8p; REC8 homolog;
                     kleisin-alpha"
                     /codon_start=1
                     /product="meiotic recombination protein REC8 homolog"
                     /protein_id="NP_001041670.1"
                     /db_xref="CCDS:CCDS41932.1"
                     /db_xref="GeneID:9985"
                     /db_xref="HGNC:HGNC:16879"
                     /db_xref="MIM:608193"
                     /translation="MFYYPNVLQRHTGCFATIWLAATRGSRLVKREYLRVNVVKTCEE
                     ILNYVLVRVQPPQPGLPRPRFSLYLSAQLQIGVIRVYSQQCQYLVEDIQHILERLHRA
                     QLQIRIDMETELPSLLLPNHLAMMETLEDAPDPFFGMMSVDPRLPSPFDIPQIRHLLE
                     AAIPERVEEIPPEVPTEPREPERIPVTVLPPEAITILEAEPIRMLEIEGERELPEVSR
                     RELDLLIAEEEEAILLEIPRLPPPAPAEVEGIGEALGPEELRLTGWEPGALLMEVTPP
                     EELRLPAPPSPERRPPVPPPPRRRRRRRLLFWDKETQISPEKFQEQLQTRAHCWECPM
                     VQPPERTIRGPAELFRTPTLSGWLPPELLGLWTHCAQPPPKALRRELPEEAAAEEERR
                     KIEVPSEIEVPREALEPSVPLMVSLEISLEAAEEEKSRISLIPPEERWAWPEVEAPEA
                     PALPVVPELPEVPMEMPLVLPPELELLSLEAVHRAVALELQANREPDFSSLVSPLSPR
                     RMAARVFYLLLVLSAQQILHVKQEKPYGRLLIQPGPRFH"
     exon            530..598
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            599..741
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            742..814
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            815..935
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            936..1017
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            1018..1097
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            1098..1179
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            1180..1210
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            1211..1287
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            1288..1337
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            1338..1469
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            1470..1536
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            1537..1676
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            1677..1725
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            1726..1792
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            1793..1924
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            1925..2031
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     exon            2032..2276
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2257..2262
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /note="hexamer: AACAAG"
     polyA_site      2276
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /note="major polyA site"
ORIGIN      
        1 ctagtcctgc agtaggcggc ccggggccac accgcggccg cccaagccag tgcaaggccc
       61 aggggcctga catcgctccc agcgctcgag gaccgaggcc tgctgtggag gacaccgtgc
      121 tccctcggga cctgctctgg attccggccc ggacgtcccc ttggagctct gcatctccaa
      181 cctggaaccc aacccagaag tctcaagttt gacgcatcac gtggcgtgcg gatccactga
      241 gggtccacag agaggggcgc ccatctcctg cgtctcagtt atcctggtaa ttgtgtatct
      301 gcccattgtt cgttgcctca ttaacttggc tttctaggtg cacccacctt gccaccagag
      361 aagtccaaat cctgacttct ctccaaggtg ttgggaattc tgtgccctaa agaattccga
      421 ctcagatccg aacggggatc tggtggaatc gagggtgaaa gaccagaggg acaatgttct
      481 actatcccaa cgtgcttcag cgccacaccg gctgctttgc caccatctgg ctggcggcga
      541 ctcgcggcag ccggttggtg aagcgcgaat acctgagggt gaatgtggtg aaaacctgcg
      601 aggaaatcct caattacgtg ctggtacgag tgcaaccccc gcagcccggc ctgccgcggc
      661 cccgcttctc cctctatctc tcagcccaac ttcagatcgg tgtgatccgc gtctattctc
      721 aacaatgcca gtacctcgtg gaggacatcc agcacatctt ggagcgcctc caccgtgccc
      781 agctgcagat ccgaatagat atggagactg agctacccag cctgctgctt cctaaccacc
      841 tggccatgat ggagacccta gaagatgctc cagatccctt ttttgggatg atgtctgtgg
      901 atcccagact tcctagtcct ttcgatatcc ctcagattcg acacctctta gaggctgcaa
      961 tcccagagag agttgaagag atccctcctg aagttcctac agagcccagg gagccagaga
     1021 ggattccggt cactgtgctg ccacctgagg ccatcacgat cctggaggca gagcccatac
     1081 ggatgctgga gattgagggt gaacgggagc tcccagaggt cagccgccga gaactggacc
     1141 tgctgatcgc agaggaagaa gaagctatct tgttagaaat cccgcggctc ccacctccag
     1201 ctcctgcaga ggtggaagga ataggagagg cactgggtcc tgaggagctg aggctgacag
     1261 gctgggaacc tggggcccta ctcatggagg tgaccccccc ggaggagctg cgtctgccag
     1321 ccccacccag cccagagagg aggcccccag tccccccacc tcctcgccgc cgccgtcgtc
     1381 gccggttact gttctgggac aaggagactc agatctcccc ggagaaattc caggaacaac
     1441 tgcaaaccag agcccactgc tgggaatgtc ctatggtgca gccgcccgag aggaccatca
     1501 gaggccctgc ggagttgttc agaaccccaa ctctctctgg ctggctaccc cctgaactac
     1561 tgggtctctg gacccattgt gcccagccac ccccaaaagc cctcaggcga gagctgcctg
     1621 aggaggcagc cgctgaggag gaaaggagaa agattgaagt tccaagtgag attgaggtcc
     1681 cgagggaggc cctggagccc agtgttcccc ttatggtgtc tttagagatc tccctagagg
     1741 cagctgaaga ggagaagtcc cgcatcagcc tcatcccacc agaagaacgg tgggcctggc
     1801 ctgaggtgga ggcgccagaa gctcctgcat tgcccgtggt gcctgaactc cctgaggtgc
     1861 ccatggagat gcctttggtg ctgcccccag agctcgagct gctctcactg gaagcagtgc
     1921 acagggcagt ggcactggag ctgcaggcta acagggagcc cgacttcagc agcctggtgt
     1981 cacctctcag cccccgcagg atggctgccc gggtcttcta cctgctcctg gtgctctcag
     2041 cgcaacagat tcttcacgtg aaacaagaaa agccatatgg tcgcctcctg atccagccgg
     2101 ggcccagatt ccactgaggt tagagtccat ttacaaagct gccaggaaac cggccacttc
     2161 tagtaaacca cgtcgtgcct cactgggtcc tgcttacctc atttctgaat gtgcatttcc
     2221 agccttcttg ctctcagagc tattgttcaa gcagaaaaca agctgctttt attaca
//
