LOCUS       NM_006642               2581 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens SHH signaling and ciliogenesis regulator SDCCAG8
            (SDCCAG8), transcript variant 1, mRNA.
ACCESSION   NM_006642
VERSION     NM_006642.5
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  (bases 1 to 2581)
  AUTHORS   Tsutsumi,R., Chaya,T., Tsujii,T. and Furukawa,T.
  TITLE     The carboxyl-terminal region of SDCCAG8 comprises a functional
            module essential for cilia formation as well as organ development
            and homeostasis
  JOURNAL   J Biol Chem 298 (3), 101686 (2022)
   PUBMED   35131266
  REMARK    GeneRIF: The carboxyl-terminal region of SDCCAG8 comprises a
            functional module essential for cilia formation as well as organ
            development and homeostasis.
REFERENCE   2  (bases 1 to 2581)
  AUTHORS   He,Y., Liu,H., Luo,S., Amos,C.I., Lee,J.E., Li,X., Nan,H. and
            Wei,Q.
  TITLE     Genetic variants of SDCCAG8 and MAGI2 in mitosis-related pathway
            genes are independent predictors of cutaneous melanoma-specific
            survival
  JOURNAL   Cancer Sci 112 (10), 4355-4364 (2021)
   PUBMED   34375487
  REMARK    GeneRIF: Genetic variants of SDCCAG8 and MAGI2 in mitosis-related
            pathway genes are independent predictors of cutaneous
            melanoma-specific survival.
REFERENCE   3  (bases 1 to 2581)
  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   4  (bases 1 to 2581)
  AUTHORS   Bahmanpour,Z., Daneshmandpour,Y., Kazeminasab,S., Khalil
            Khalili,S., Alehabib,E., Chapi,M., Soosanabadi,M., Darvish,H. and
            Emamalizadeh,B.
  TITLE     A novel splice site mutation in the SDCCAG8 gene in an Iranian
            family with Bardet-Biedl syndrome
  JOURNAL   Int Ophthalmol 41 (2), 389-397 (2021)
   PUBMED   32926352
  REMARK    GeneRIF: A novel splice site mutation in the SDCCAG8 gene in an
            Iranian family with Bardet-Biedl syndrome.
REFERENCE   5  (bases 1 to 2581)
  AUTHORS   McCauley,J.L., Zuvich,R.L., Bradford,Y., Kenealy,S.J.,
            Schnetz-Boutaud,N., Gregory,S.G., Hauser,S.L., Oksenberg,J.R.,
            Mortlock,D.P., Pericak-Vance,M.A. and Haines,J.L.
  TITLE     Follow-up examination of linkage and association to chromosome 1q43
            in multiple sclerosis
  JOURNAL   Genes Immun 10 (7), 624-630 (2009)
   PUBMED   19626040
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   6  (bases 1 to 2581)
  AUTHORS   Wang,A.G., Yoon,S.Y., Oh,J.H., Jeon,Y.J., Kim,M., Kim,J.M.,
            Byun,S.S., Yang,J.O., Kim,J.H., Kim,D.G., Yeom,Y.I., Yoo,H.S.,
            Kim,Y.S. and Kim,N.S.
  TITLE     Identification of intrahepatic cholangiocarcinoma related genes by
            comparison with normal liver tissues using expressed sequence tags
  JOURNAL   Biochem Biophys Res Commun 345 (3), 1022-1032 (2006)
   PUBMED   16712791
REFERENCE   7  (bases 1 to 2581)
  AUTHORS   Kenedy,A.A., Cohen,K.J., Loveys,D.A., Kato,G.J. and Dang,C.V.
  TITLE     Identification and characterization of the novel
            centrosome-associated protein CCCAP
  JOURNAL   Gene 303, 35-46 (2003)
   PUBMED   12559564
REFERENCE   8  (bases 1 to 2581)
  AUTHORS   Scanlan,M.J., Chen,Y.T., Williamson,B., Gure,A.O., Stockert,E.,
            Gordan,J.D., Tureci,O., Sahin,U., Pfreundschuh,M. and Old,L.J.
  TITLE     Characterization of human colon cancer antigens recognized by
            autologous antibodies
  JOURNAL   Int J Cancer 76 (5), 652-658 (1998)
   PUBMED   9610721
REFERENCE   9  (bases 1 to 2581)
  AUTHORS   Stokman,M., Lilien,M. and Knoers,N.
  TITLE     Nephronophthisis-Related Ciliopathies
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   27336129
REFERENCE   10 (bases 1 to 2581)
  AUTHORS   Forsyth,R. and Gunay-Aygun,M.
  TITLE     Bardet-Biedl Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301537
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC326670.1, AF250731.1,
            AC096539.2 and BQ018376.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_006642.4.
            
            Summary: This gene encodes a centrosome associated protein. This
            protein may be involved in organizing the centrosome during
            interphase and mitosis. Mutations in this gene are associated with
            retinal-renal ciliopathy. [provided by RefSeq, Oct 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 :: SRR1803613.140081.1,
                                           SRR1803611.92209.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366541.8/ ENSP00000355499.3
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-133               DC326670.1         37-169
            134-1857            AF250731.1         1-1724
            1858-1858           AC096539.2         56401-56401
            1859-2275           AF250731.1         1726-2142
            2276-2581           BQ018376.1         18-323              c
FEATURES             Location/Qualifiers
     source          1..2581
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q43-q44"
     gene            1..2581
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /note="SHH signaling and ciliogenesis regulator SDCCAG8"
                     /db_xref="GeneID:10806"
                     /db_xref="HGNC:HGNC:10671"
                     /db_xref="MIM:613524"
     exon            1..200
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     CDS             134..2275
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /note="isoform 1 is encoded by transcript variant 1;
                     antigen NY-CO-8; centrosomal colon cancer autoantigen
                     protein; Bardet-Biedl syndrome 16; nephrocystin 10;
                     serologically defined colon cancer antigen 8"
                     /codon_start=1
                     /product="serologically defined colon cancer antigen 8
                     isoform 1"
                     /protein_id="NP_006633.1"
                     /db_xref="CCDS:CCDS31075.1"
                     /db_xref="GeneID:10806"
                     /db_xref="HGNC:HGNC:10671"
                     /db_xref="MIM:613524"
                     /translation="MAKSPENSTLEEILGQYQRSLREHASRSIHQLTCALKEGDVTIG
                     EDAPNLSFSTSVGNEDARTAWPELQQSHAVNQLKDLLRQQADKESEVSPSRRRKMSPL
                     RSLEHEETNMPTMHDLVHTINDQSQYIHHLEAEVKFCKEELSGMKNKIQVVVLENEGL
                     QQQLKSQRQEETLREQTLLDASGNMHNSWITTGEDSGVGETSKRPFSHDNADFGKAAS
                     AGEQLELEKLKLTYEEKCEIEESQLKFLRNDLAEYQRTCEDLKEQLKHKEFLLAANTC
                     NRVGGLCLKCAQHEAVLSQTHTNVHMQTIERLVKERDDLMSALVSVRSSLADTQQREA
                     SAYEQVKQVLQISEEANFEKTKALIQCDQLRKELERQAERLEKELASQQEKRAIEKDM
                     MKKEITKEREYMGSKMLILSQNIAQLEAQVEKVTKEKISAINQLEEIQSQLASREMDV
                     TKVCGEMRYQLNKTNMEKDEAEKEHREFRAKTNRDLEIKDQEIEKLRIELDESKQHLE
                     QEQQKAALAREECLRLTELLGESEHQLHLTRQEKDSIQQSFSKEAKAQALQAQQREQE
                     LTQKIQQMEAQHDKTENEQYLLLTSQNTFLTKLKEECCTLAKKLEQISQKTRSEIAQL
                     SQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQRLRQLDKHSQATAQQLVQLLS
                     KQNQLLLERQSLSEEVDRLRTQLPSMPQSDC"
     exon            201..353
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            354..439
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            440..553
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            554..679
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            680..808
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            809..873
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            874..1062
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1063..1201
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1202..1354
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1355..1489
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1490..1606
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1607..1749
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1750..1877
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1878..1986
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            1987..2118
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            2119..2245
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     exon            2246..2581
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2561..2566
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /note="hexamer: AATAAA"
     polyA_site      2581
                     /gene="SDCCAG8"
                     /gene_synonym="BBS16; CCCAP; CCCAP SLSN7; hCCCAP; HSPC085;
                     NPHP10; NY-CO-8; SLSN7"
                     /note="major polyA site"
ORIGIN      
        1 attctaggct cccctgtgac agccgcggca ggaagcaggc gggcgctccc cggccacagg
       61 cctgttgttc tcggaaggga gaaagctgga catttcccca cgtaactccc agctctgggc
      121 ctagagtgcg tgcatggcga agtccccgga gaactctacc ctggaggaga ttctggggca
      181 gtatcaacgg agtctccggg aacatgccag cagaagcatt caccaactga catgtgccct
      241 gaaagaaggc gatgtcacta ttggagaaga tgcaccaaat ctttctttta gcaccagtgt
      301 gggaaatgag gacgccagga cagcctggcc cgaattacaa cagagccatg ctgttaatca
      361 gctcaaagat ttgttgcgcc aacaagcaga taaggaaagt gaagtatctc cgtcaagaag
      421 aagaaaaatg tcccccttga ggtcattaga acatgaggaa accaatatgc ctactatgca
      481 cgaccttgtt catactatta atgaccagtc tcaatatatt catcatttag aggcagaagt
      541 taagttctgc aaggaggaac tctctggaat gaaaaataaa atacaagtag ttgtgcttga
      601 aaacgaaggg ctccagcaac agctaaaatc tcaaagacaa gaggagacac tgagggaaca
      661 aacacttctg gatgcatccg gaaacatgca caattcttgg attacaacag gtgaagattc
      721 tggggtgggc gaaacctcca aaagaccatt ttcccatgac aatgcagatt ttggcaaagc
      781 tgcatctgct ggtgagcagc tagaactgga gaagctaaaa cttacttatg aggaaaagtg
      841 tgaaattgag gaatcccaat tgaagttttt gaggaacgac ttagctgaat atcagagaac
      901 ttgtgaagat cttaaagagc aactaaagca taaagaattt cttctggctg ctaatacttg
      961 taaccgtgtt ggtggtcttt gtttgaaatg tgctcagcat gaagctgttc tttcccaaac
     1021 ccatactaat gttcatatgc agaccatcga aagactggtt aaagaaagag atgacttgat
     1081 gtctgcacta gtttccgtaa ggagcagctt ggcagatacg cagcaaagag aagcaagtgc
     1141 ttatgaacag gtgaaacaag ttttgcaaat atctgaggaa gccaattttg aaaaaaccaa
     1201 ggctttaatc cagtgtgacc agttgaggaa ggagctggag aggcaggcgg agcgacttga
     1261 aaaagaactt gcatctcagc aagagaaaag ggccattgag aaagacatga tgaaaaagga
     1321 aataacgaaa gaaagggagt acatgggatc aaagatgttg atcttgtctc agaatattgc
     1381 ccaactggag gcccaggtgg aaaaggttac aaaggaaaag atttcagcta ttaatcaact
     1441 ggaggaaatt caaagccagc tggcttctcg ggaaatggat gtcacaaagg tgtgtggaga
     1501 aatgcgctat cagctgaata aaaccaacat ggagaaggat gaggcagaaa aggagcacag
     1561 agagttcaga gcaaaaacta acagggatct tgaaattaaa gatcaggaaa tagagaaatt
     1621 gagaatagaa ctggatgaaa gcaaacaaca cttggaacag gagcagcaga aggcagccct
     1681 ggccagagag gagtgcctga gactaacaga actgctgggc gaatctgagc accaactgca
     1741 cctcaccaga caggaaaaag atagcattca gcagagcttt agcaaggaag caaaggccca
     1801 agcccttcag gcccagcaaa gagagcagga gctgacacag aagatacagc aaatggaggc
     1861 ccagcatgac aaaactgaaa atgaacagta tttgttgctg acctcccaga atacattttt
     1921 gacaaagtta aaggaagaat gctgtacatt agccaagaaa ctggaacaaa tctctcaaaa
     1981 aaccagatct gaaatagctc aactcagtca agaaaaaagg tatacatatg ataaattggg
     2041 aaagttacag agaagaaatg aagaattgga ggaacagtgt gtccagcatg ggagagtaca
     2101 tgagacgatg aagcaaaggc taaggcagct ggataagcac agccaggcca cagcccagca
     2161 gctggtgcag ctcctcagca agcagaacca gcttctcctg gagaggcaga gcctgtcgga
     2221 agaggtggac cggctgcgga cccagttacc cagcatgcca caatctgatt gctgacctgg
     2281 atggaacaga gtgaaataaa tgatttacaa agagatattt acattcatct ggtttagact
     2341 taatatgcca caacgcacca cgaccttccc agggtgacac cgcctcagcc tgcagtgggg
     2401 ctggtcctca tcaacgcggg cgctgtcccc gcacgcagtc gggctggagc tggagtctga
     2461 ctctagctga gcagagctcc tggtgtatgt tttcagaaat ggcttgaagt tatgtgttta
     2521 aatctgctca ttcgtatgct aggttataca tatgattttc aataaatgaa ctttttaaag
     2581 a
//
