LOCUS       NP_005427                474 aa            linear   PRI 17-JUN-2024
DEFINITION  coiled-coil domain-containing protein 6 [Homo sapiens].
ACCESSION   NP_005427
VERSION     NP_005427.2
DBSOURCE    REFSEQ: accession NM_005436.5
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 474)
  AUTHORS   Qiu,T., Kong,Y., Wei,G., Sun,K., Wang,R., Wang,Y., Chen,Y.,
            Wang,W., Zhang,Y., Jiang,C., Yang,P., Xie,T. and Chen,X.
  TITLE     CCDC6-RET fusion protein regulates Ras/MAPK signaling through the
            fusion- GRB2-SHC1 signal niche
  JOURNAL   Proc Natl Acad Sci U S A 121 (23), e2322359121 (2024)
   PUBMED   38805286
  REMARK    GeneRIF: CCDC6-RET fusion protein regulates Ras/MAPK signaling
            through the fusion- GRB2-SHC1 signal niche.
REFERENCE   2  (residues 1 to 474)
  AUTHORS   Wang,C., Dong,M., Zhang,X., Wang,X., Zhao,Y. and Cao,Y.
  TITLE     Competitive binding of circCCDC6 to microRNA-128-3p activates
            TXNIP/NLRP3 pathway and promotes cerebral ischemia-reperfusion
            defects
  JOURNAL   Acta Biochim Pol 70 (4), 807-815 (2023)
   PUBMED   37934513
  REMARK    GeneRIF: Competitive binding of circCCDC6 to microRNA-128-3p
            activates TXNIP/NLRP3 pathway and promotes cerebral
            ischemia-reperfusion defects.
REFERENCE   3  (residues 1 to 474)
  AUTHORS   Khonrak,T., Watcharadetwittaya,S., Chamgramol,Y., Intarawichian,P.
            and Deenonpoe,R.
  TITLE     RET rearrangements are relevant to histopathologic subtypes and
            clinicopathological features in Thai papillary thyroid carcinoma
            patients
  JOURNAL   Pathol Oncol Res 29, 1611138 (2023)
   PUBMED   37188126
  REMARK    GeneRIF: RET rearrangements are relevant to histopathologic
            subtypes and clinicopathological features in Thai papillary thyroid
            carcinoma patients.
            Publication Status: Online-Only
REFERENCE   4  (residues 1 to 474)
  AUTHORS   Tong,Q., Li,Y., Smanik,P.A., Fithian,L.J., Xing,S., Mazzaferri,E.L.
            and Jhiang,S.M.
  TITLE     Characterization of the promoter region and oligomerization domain
            of H4 (D10S170), a gene frequently rearranged with the ret
            proto-oncogene
  JOURNAL   Oncogene 10 (9), 1781-1787 (1995)
   PUBMED   7753554
REFERENCE   5  (residues 1 to 474)
  AUTHORS   Grieco,M., Cerrato,A., Santoro,M., Fusco,A., Melillo,R.M. and
            Vecchio,G.
  TITLE     Cloning and characterization of H4 (D10S170), a gene involved in
            RET rearrangements in vivo
  JOURNAL   Oncogene 9 (9), 2531-2535 (1994)
   PUBMED   8058316
REFERENCE   6  (residues 1 to 474)
  AUTHORS   Jhiang,S.M., Chiu,I.M. and Mazzaferri,E.L.
  TITLE     An STS in the human PTC oncogene located at 10q11.2
  JOURNAL   Nucleic Acids Res 19 (15), 4303 (1991)
   PUBMED   1678508
REFERENCE   7  (residues 1 to 474)
  AUTHORS   Ishizaka,Y., Ushijima,T., Sugimura,T. and Nagao,M.
  TITLE     cDNA cloning and characterization of ret activated in a human
            papillary thyroid carcinoma cell line
  JOURNAL   Biochem Biophys Res Commun 168 (2), 402-408 (1990)
   PUBMED   2334411
REFERENCE   8  (residues 1 to 474)
  AUTHORS   Grieco,M., Santoro,M., Berlingieri,M.T., Melillo,R.M., Donghi,R.,
            Bongarzone,I., Pierotti,M.A., Della Porta,G., Fusco,A. and
            Vecchio,G.
  TITLE     PTC is a novel rearranged form of the ret proto-oncogene and is
            frequently detected in vivo in human thyroid papillary carcinomas
  JOURNAL   Cell 60 (4), 557-563 (1990)
   PUBMED   2406025
REFERENCE   9  (residues 1 to 474)
  AUTHORS   Radice,P., Donghi,R., Pierotti,M.A., Longoni,A., Fusco,A.,
            Grieco,M., Santoro,M., Vecchio,G. and Della Porta,G.
  TITLE     RFLP for TaqI of the human thyroid papillary carcinoma (PTC)
            oncogene
  JOURNAL   Nucleic Acids Res 16 (18), 9062 (1988)
   PUBMED   2902563
REFERENCE   10 (residues 1 to 474)
  AUTHORS   Fusco,A., Grieco,M., Santoro,M., Berlingieri,M.T., Pilotti,S.,
            Pierotti,M.A., Della Porta,G. and Vecchio,G.
  TITLE     A new oncogene in human thyroid papillary carcinomas and their
            lymph-nodal metastases
  JOURNAL   Nature 328 (6126), 170-172 (1987)
   PUBMED   3600795
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AK292593.1, BC022284.1,
            AC060231.8 and BM672399.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Apr 29, 2004 this sequence version replaced NP_005427.1.
            
            Summary: This gene encodes a coiled-coil domain-containing protein.
            The encoded protein is ubiquitously expressed and may function as a
            tumor suppressor. A chromosomal rearrangement resulting in the
            expression of a fusion gene containing a portion of this gene and
            the intracellular kinase-encoding domain of the ret proto-oncogene
            is the cause of thyroid papillary carcinoma.[provided by RefSeq,
            Sep 2010].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: BC036757.2, SRR1803616.139003.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000263102.7/ ENSP00000263102.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..474
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q21.2"
     Protein         1..474
                     /product="coiled-coil domain-containing protein 6"
                     /note="papillary thyroid carcinoma-encoded protein;
                     transforming sequence, thyroid-1"
                     /calculated_mol_wt=53160
     Region          52..337
                     /region_name="DUF2046"
                     /note="Uncharacterized conserved protein H4 (DUF2046);
                     pfam09755"
                     /db_xref="CDD:401633"
     CDS             1..474
                     /gene="CCDC6"
                     /gene_synonym="D10S170; H4; PTC; PTC1; TPC; TST1"
                     /coded_by="NM_005436.5:133..1557"
                     /db_xref="CCDS:CCDS7257.1"
                     /db_xref="GeneID:8030"
                     /db_xref="HGNC:HGNC:18782"
                     /db_xref="MIM:601985"
ORIGIN      
        1 madsasesdt dgaggnssss aamqsscsst sggggggggg ggggksggiv ispfrleelt
       61 nrlaslqqen kvlkielety klkckalqee nrdlrkasvt iqaraeqeee fisntlfkki
      121 qalqkeketl avnyekeeef ltnelsrklm qlqhekaele qhleqeqefq vnklmkkikk
      181 lendtiskql tleqlrreki dlentleqeq ealvnrlwkr mdkleaekri lqekldqpvs
      241 appsprdism eidspenmmr hirflkneve rlkkqlraaq lqhsekmaqy leeerhmree
      301 nlrlqrklqr emerrealcr qlsesessle mdderyfnem saqglrprtv sspipytpsp
      361 sssrpispgl syashtvgft pptsltragm syynspglhv qhmgtshgit rpsprrsnsp
      421 dkfkrptppp spntqtpvqp ppppppppmq ptvpsaatsq ptpsqhsahp ssqp
//
