LOCUS       NM_014008               2310 bp    mRNA    linear   PRI 19-FEB-2025
DEFINITION  Homo sapiens CCC complex scaffolding subunit CCDC22 (CCDC22), mRNA.
ACCESSION   NM_014008
VERSION     NM_014008.5
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 2310)
  AUTHORS   Boesch,D.J., Singla,A., Han,Y., Kramer,D.A., Liu,Q., Suzuki,K.,
            Juneja,P., Zhao,X., Long,X., Medlyn,M.J., Billadeau,D.D., Chen,Z.,
            Chen,B. and Burstein,E.
  TITLE     Structural organization of the retriever-CCC endosomal recycling
            complex
  JOURNAL   Nat Struct Mol Biol 31 (6), 910-924 (2024)
   PUBMED   38062209
REFERENCE   2  (bases 1 to 2310)
  AUTHORS   Healy,M.D., McNally,K.E., Butkovic,R., Chilton,M., Kato,K.,
            Sacharz,J., McConville,C., Moody,E.R.R., Shaw,S.,
            Planelles-Herrero,V.J., Yadav,S.K.N., Ross,J., Borucu,U.,
            Palmer,C.S., Chen,K.E., Croll,T.I., Hall,R.J., Caruana,N.J.,
            Ghai,R., Nguyen,T.H.D., Heesom,K.J., Saitoh,S., Berger,I.,
            Schaffitzel,C., Williams,T.A., Stroud,D.A., Derivery,E.,
            Collins,B.M. and Cullen,P.J.
  TITLE     Structure of the endosomal Commander complex linked to
            Ritscher-Schinzel syndrome
  JOURNAL   Cell 186 (10), 2219-2237 (2023)
   PUBMED   37172566
REFERENCE   3  (bases 1 to 2310)
  AUTHORS   Neri,S., Maia,N., Fortuna,A.M., Damasio,J., Coale,E., Willis,M.,
            Jorge,P., Hojte,A.F., Fenger,C.D., Moller,R.S. and Bayat,A.
  TITLE     Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22
            -related Ritscher-Schinzel syndromes
  JOURNAL   Eur J Med Genet 65 (11), 104624 (2022)
   PUBMED   36130690
  REMARK    GeneRIF: Expanding the pre- and postnatal phenotype of WASHC5 and
            CCDC22 -related Ritscher-Schinzel syndromes.
REFERENCE   4  (bases 1 to 2310)
  AUTHORS   Cho,N.H., Cheveralls,K.C., Brunner,A.D., Kim,K., Michaelis,A.C.,
            Raghavan,P., Kobayashi,H., Savy,L., Li,J.Y., Canaj,H., Kim,J.Y.S.,
            Stewart,E.M., Gnann,C., McCarthy,F., Cabrera,J.P., Brunetti,R.M.,
            Chhun,B.B., Dingle,G., Hein,M.Y., Huang,B., Mehta,S.B.,
            Weissman,J.S., Gomez-Sjoberg,R., Itzhak,D.N., Royer,L.A., Mann,M.
            and Leonetti,M.D.
  TITLE     OpenCell: Endogenous tagging for the cartography of human cellular
            organization
  JOURNAL   Science 375 (6585), eabi6983 (2022)
   PUBMED   35271311
REFERENCE   5  (bases 1 to 2310)
  AUTHORS   Starokadomskyy,P., Gluck,N., Li,H., Chen,B., Wallis,M., Maine,G.N.,
            Mao,X., Zaidi,I.W., Hein,M.Y., McDonald,F.J., Lenzner,S., Zecha,A.,
            Ropers,H.H., Kuss,A.W., McGaughran,J., Gecz,J. and Burstein,E.
  TITLE     CCDC22 deficiency in humans blunts activation of proinflammatory
            NF-kappaB signaling
  JOURNAL   J Clin Invest 123 (5), 2244-2256 (2013)
   PUBMED   23563313
  REMARK    GeneRIF: CCDC22 participates in NF-kappaB activation and its
            deficiency leads to decreased IkappaB turnover
REFERENCE   6  (bases 1 to 2310)
  AUTHORS   Voineagu,I., Huang,L., Winden,K., Lazaro,M., Haan,E., Nelson,J.,
            McGaughran,J., Nguyen,L.S., Friend,K., Hackett,A., Field,M.,
            Gecz,J. and Geschwind,D.
  TITLE     CCDC22: a novel candidate gene for syndromic X-linked intellectual
            disability
  JOURNAL   Mol Psychiatry 17 (1), 4-7 (2012)
   PUBMED   21826058
  REMARK    GeneRIF: This study demonistrated that CCDC22 is a novel candidate
            gene for syndromic X-linked intellectual disability.
REFERENCE   7  (bases 1 to 2310)
  AUTHORS   Suttner,K., Depner,M., Wetzke,M., Klopp,N., von Mutius,E.,
            Illig,T., Sparwasser,T. and Kabesch,M.
  TITLE     Genetic variants harbored in the forkhead box protein 3 locus
            increase hay fever risk
  JOURNAL   J Allergy Clin Immunol 125 (6), 1395-1399 (2010)
   PUBMED   20398921
  REMARK    GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 2310)
  AUTHORS   Mulder,J., Wernerus,H., Shi,T.J., Ponten,F., Hober,S., Uhlen,M. and
            Hokfelt,T.
  TITLE     Systematically generated antibodies against human gene products:
            high throughput screening on sections from the rat nervous system
  JOURNAL   Neuroscience 146 (4), 1689-1703 (2007)
   PUBMED   17478047
REFERENCE   9  (bases 1 to 2310)
  AUTHORS   Tomsig,J.L., Snyder,S.L. and Creutz,C.E.
  TITLE     Identification of targets for calcium signaling through the copine
            family of proteins. Characterization of a coiled-coil
            copine-binding motif
  JOURNAL   J Biol Chem 278 (12), 10048-10054 (2003)
   PUBMED   12522145
  REMARK    GeneRIF: Identifies the homologous mouse protein as a
            copine-binding protein.
REFERENCE   10 (bases 1 to 2310)
  AUTHORS   Elliott,A.M. and Chudley,A.
  TITLE     Ritscher-Schinzel Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31971710
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DC340647.1, AJ005890.1 and
            BC000972.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_014008.4.
            
            Summary: This gene encodes a protein containing a coiled-coil
            domain. The encoded protein functions in the regulation of NF-kB
            (nuclear factor kappa-light-chain-enhancer of activated B cells) by
            interacting with COMMD (copper metabolism Murr1 domain-containing)
            proteins. The mouse orthologous protein has been shown to bind
            copines, which are calcium-dependent, membrane-binding proteins
            that may function in calcium signaling. This human gene has been
            identified as a novel candidate gene for syndromic X-linked
            intellectual disability. [provided by RefSeq, Aug 2013].
            
            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 :: SRR3476690.584118.1,
                                           SRR1803614.180387.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000376227.4/ ENSP00000365401.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-81                DC340647.1         1-81
            82-2309             AJ005890.1         1-2228
            2310-2310           BC000972.2         2260-2260
FEATURES             Location/Qualifiers
     source          1..2310
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp11.23"
     gene            1..2310
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /note="CCC complex scaffolding subunit CCDC22"
                     /db_xref="GeneID:28952"
                     /db_xref="HGNC:HGNC:28909"
                     /db_xref="MIM:300859"
     exon            1..217
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             168..2051
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /note="coiled-coil domain containing 22"
                     /codon_start=1
                     /product="coiled-coil domain-containing protein 22"
                     /protein_id="NP_054727.1"
                     /db_xref="CCDS:CCDS14322.1"
                     /db_xref="GeneID:28952"
                     /db_xref="HGNC:HGNC:28909"
                     /db_xref="MIM:300859"
                     /translation="MEEADRILIHSLRQAGTAVPPDVQTLRAFTTELVVEAVVRCLRV
                     INPAVGSGLSPLLPLAMSARFRLAMSLAQACMDLGYPLELGYQNFLYPSEPDLRDLLL
                     FLAERLPTDASEDADQPAGDSAILLRAIGSQIRDQLALPWVPPHLRTPKLQHLQGSAL
                     QKPFHASRLVVPELSSRGEPREFQASPLLLPVPTQVPQPVGRVASLLEHHALQLCQQT
                     GRDRPGDEDWVHRTSRLPPQEDTRAQRQRLQKQLTEHLRQSWGLLGAPIQARDLGELL
                     QAWGAGAKTGAPKGSRFTHSEKFTFHLEPQAQATQVSDVPATSRRPEQVTWAAQEQEL
                     ESLREQLEGVNRSIEEVEADMKTLGVSFVQAESECRHSKLSTAEREQALRLKSRAVEL
                     LPDGTANLAKLQLVVENSAQRVIHLAGQWEKHRVPLLAEYRHLRKLQDCRELESSRRL
                     AEIQELHQSVRAAAEEARRKEEVYKQLMSELETLPRDVSRLAYTQRILEIVGNIRKQK
                     EEITKILSDTKELQKEINSLSGKLDRTFAVTDELVFKDAKKDDAVRKAYKYLAALHEN
                     CSQLIQTIEDTGTIMREVRDLEEQIETELGKKTLSNLEKIREDYRALRQENAGLLGRV
                     REA"
     exon            218..395
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            396..528
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            529..635
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            636..702
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            703..881
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            882..1076
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1077..1139
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1140..1259
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1260..1379
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1380..1496
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1497..1598
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1599..1706
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1707..1802
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1803..1862
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1863..1937
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     exon            1938..2310
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2288..2293
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /note="hexamer: AATAAA"
     polyA_site      2310
                     /gene="CCDC22"
                     /gene_synonym="CXorf37; JM1; RTSC2"
                     /note="major polyA site"
ORIGIN      
        1 acatccggca tgcgccgtgc tcgctcacag aactacactt tccaactctc cccacacgac
       61 ccgtgacact ctgtggaccg cgagcacgga gcagggtttc tacagctgct ccccactttc
      121 tcggacccgg tcctggaccc agcccccgac tccgacacgg ctccaccatg gaggaggcgg
      181 accgaatcct catccattcg ctgcgccagg ccggcacggc agttcctcca gatgtgcaga
      241 ccttgcgcgc cttcaccact gagctggttg tagaggctgt ggtccgctgc ctgcgtgtga
      301 tcaaccctgc ggtgggctct ggcctcagcc ctctgctgcc tcttgccatg tctgcccggt
      361 tccgcctggc catgagcctg gctcaggcct gcatggacct gggctatccc ttggagcttg
      421 gctatcagaa cttcctctac cccagtgagc ctgacctccg agacctgctt ctcttcttgg
      481 ctgagcgtct gcccaccgat gcctctgagg atgcagacca gcctgcaggt gactcagcta
      541 ttctcctccg ggccattggg agccaaattc gggaccagct ggcactgcct tgggtcccgc
      601 cccaccttcg cactcccaag ctgcagcacc tccagggctc ggccctccag aagcctttcc
      661 atgccagcag gctggtcgtg ccagaattga gttccagagg tgagccacgg gagttccagg
      721 cgagtcccct gctgcttcca gtccctaccc aggtgcctca gcctgttgga agggtggcct
      781 cgctcctcga acaccatgcc ctgcagctct gccagcagac gggccgggac cggccagggg
      841 atgaggactg ggtccaccgg acatcccgcc tcccacccca ggaggacaca cgggctcagc
      901 ggcagcggct gcaaaagcaa ctgactgagc atctgcgcca aagctggggc ctgcttgggg
      961 cccccataca agcccgggac ctgggagaac tgctgcaggc ctggggtgct ggggccaaga
     1021 ctggtgctcc taagggctcc cgcttcacgc actcagagaa gttcaccttc catctggagc
     1081 cccaggccca ggccactcag gtgtcagatg tgccagccac ctcccggcgg cctgaacagg
     1141 tcacgtgggc agctcaggaa caggagctcg agtcccttcg ggagcagctg gaaggagtga
     1201 accgcagcat tgaggaggtt gaggccgaca tgaagaccct gggcgtcagc tttgtgcagg
     1261 cagagtctga gtgccggcac agcaagctca gtacagcaga gcgtgagcag gccctgcgcc
     1321 tgaagagccg cgcggtggag ctgctgcccg atgggactgc caaccttgcc aagctgcagc
     1381 ttgtggtgga gaatagtgcc cagcgggtca tccacttggc gggtcagtgg gagaagcacc
     1441 gggtcccact cctcgctgag taccgccacc tccgaaagct gcaggattgc agagagctgg
     1501 aatcttctcg acggctggca gagatccaag aactgcacca gagtgtccgg gcggctgctg
     1561 aagaggcccg caggaaggag gaggtctata agcagctgat gtcagagctg gagactctgc
     1621 ccagagatgt gtcccggctg gcctacaccc agcgcatcct ggagatcgtg ggcaacatcc
     1681 ggaagcagaa ggaagagatc accaagatct tgtctgatac gaaggagctt cagaaggaaa
     1741 tcaactccct atctgggaag ctggaccgga cgtttgcggt gactgatgag cttgtgttca
     1801 aggatgccaa gaaggacgat gctgttcgga aggcctataa gtatctagct gctctgcacg
     1861 agaactgcag ccagctcatc cagaccatcg aggacacagg caccatcatg cgggaggttc
     1921 gagacctcga ggagcagatc gagacagagc tgggcaagaa gaccctcagc aacctggaga
     1981 agatccggga ggactaccga gccctccgcc aggagaacgc tggcctccta ggccgggtcc
     2041 gggaggcctg aggagccgcc ggcagaggtc tctccccagc ctcaggcagg gatttggggt
     2101 gctggaggca gtggccaagc acatgcccta gctacttcct ccgctgtcca gttcctcctg
     2161 ctgcggcctt ggacccagac ccctgcccac tgaccgcaac ccttatatgg ggtgatagtc
     2221 cagcatgtgg ggagctcggc tgcagtttat tggggacggt actgtgggtt gggggccttg
     2281 gatcccaaat aaatgagtag ttcctctgca
//
