LOCUS       NP_001041670             547 aa            linear   PRI 27-APR-2025
DEFINITION  meiotic recombination protein REC8 homolog [Homo sapiens].
ACCESSION   NP_001041670
VERSION     NP_001041670.1
DBSOURCE    REFSEQ: accession 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  (residues 1 to 547)
  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  (residues 1 to 547)
  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  (residues 1 to 547)
  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  (residues 1 to 547)
  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  (residues 1 to 547)
  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  (residues 1 to 547)
  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  (residues 1 to 547)
  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  (residues 1 to 547)
  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  (residues 1 to 547)
  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 (residues 1 to 547)
  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.
            
            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##
FEATURES             Location/Qualifiers
     source          1..547
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q12"
     Protein         1..547
                     /product="meiotic recombination protein REC8 homolog"
                     /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"
                     /calculated_mol_wt=62483
     Region          1..113
                     /region_name="Rad21_Rec8_N"
                     /note="N terminus of Rad21 / Rec8 like protein; pfam04825"
                     /db_xref="CDD:461446"
     Site            148
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8C5S7; propagated from
                     UniProtKB/Swiss-Prot (O95072.1)"
     Region          278..301
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (O95072.1)"
     Region          306..373
                     /region_name="Rad21_Rec8_M_Rec8"
                     /note="Middle HEAT-repeat binding domain found in Homo
                     sapiens meiotic recombination protein REC8 homolog and
                     similar proteins; cd21794"
                     /db_xref="CDD:439296"
     Site            order(306,309..316,319,322..323,328..335,345,348..353,
                     365..366,368..373)
                     /site_type="other"
                     /note="putative HEAT-repeat binding site [polypeptide
                     binding]"
                     /db_xref="CDD:439296"
     Region          492..546
                     /region_name="Rad21_Rec8"
                     /note="Conserved region of Rad21 / Rec8 like protein;
                     pfam04824"
                     /db_xref="CDD:335912"
     CDS             1..547
                     /gene="REC8"
                     /gene_synonym="HR21spB; REC8L1; Rec8p"
                     /coded_by="NM_001048205.2:474..2117"
                     /db_xref="CCDS:CCDS41932.1"
                     /db_xref="GeneID:9985"
                     /db_xref="HGNC:HGNC:16879"
                     /db_xref="MIM:608193"
ORIGIN      
        1 mfyypnvlqr htgcfatiwl aatrgsrlvk reylrvnvvk tceeilnyvl vrvqppqpgl
       61 prprfslyls aqlqigvirv ysqqcqylve diqhilerlh raqlqiridm etelpslllp
      121 nhlammetle dapdpffgmm svdprlpspf dipqirhlle aaiperveei ppevptepre
      181 peripvtvlp peaitileae pirmleiege relpevsrre ldlliaeeee ailleiprlp
      241 ppapaevegi gealgpeelr ltgwepgall mevtppeelr lpappsperr ppvpppprrr
      301 rrrrllfwdk etqispekfq eqlqtrahcw ecpmvqpper tirgpaelfr tptlsgwlpp
      361 ellglwthca qpppkalrre lpeeaaaeee rrkievpsei evprealeps vplmvsleis
      421 leaaeeeksr islippeerw awpeveapea palpvvpelp evpmemplvl ppelellsle
      481 avhravalel qanrepdfss lvsplsprrm aarvfylllv lsaqqilhvk qekpygrlli
      541 qpgprfh
//
