LOCUS       NP_852091                941 aa            linear   PRI 08-OCT-2024
DEFINITION  coiled-coil domain-containing protein 39 [Homo sapiens].
ACCESSION   NP_852091
VERSION     NP_852091.1
DBSOURCE    REFSEQ: accession NM_181426.2
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 941)
  AUTHORS   Wilken,A., Hoben,I.M., Wolter,A., Loges,N.T., Olbrich,H., Aprea,I.,
            Dworniczak,B., Raidt,J. and Omran,H.
  TITLE     Primary Ciliary Dyskinesia Associated Disease-Causing Variants in
            CCDC39 and CCDC40 Cause Axonemal Absence of Inner Dynein Arm Heavy
            Chains DNAH1, DNAH6, and DNAH7
  JOURNAL   Cells 13 (14), 1200 (2024)
   PUBMED   39056782
  REMARK    GeneRIF: Primary Ciliary Dyskinesia Associated Disease-Causing
            Variants in CCDC39 and CCDC40 Cause Axonemal Absence of Inner
            Dynein Arm Heavy Chains DNAH1, DNAH6, and DNAH7.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 941)
  AUTHORS   Shi,X., Geng,H., Yu,H., Hu,X., Wang,G., Yang,J. and Zhao,H.
  TITLE     Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary
            Dyskinesia and Kartagener Syndrome
  JOURNAL   Biomed Res Int 2022, 7130555 (2022)
   PUBMED   35795318
  REMARK    GeneRIF: Biallelic Variants in CCDC39 Gene Lead to Primary Ciliary
            Dyskinesia and Kartagener Syndrome.
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 941)
  AUTHORS   Chen,D., Liang,Y., Li,J., Zhang,X., Zheng,R., Wang,X., Zhang,H. and
            Shen,Y.
  TITLE     A novel CCDC39 mutation causes multiple morphological abnormalities
            of the flagella in a primary ciliary dyskinesia patient
  JOURNAL   Reprod Biomed Online 43 (5), 920-930 (2021)
   PUBMED   34674941
  REMARK    GeneRIF: A novel CCDC39 mutation causes multiple morphological
            abnormalities of the flagella in a primary ciliary dyskinesia
            patient.
REFERENCE   4  (residues 1 to 941)
  AUTHORS   Blanchon,S., Legendre,M., Bottier,M., Tamalet,A., Montantin,G.,
            Collot,N., Faucon,C., Dastot,F., Copin,B., Clement,A., Filoche,M.,
            Coste,A., Amselem,S., Escudier,E., Papon,J.F. and Louis,B.
  TITLE     Deep phenotyping, including quantitative ciliary beating
            parameters, and extensive genotyping in primary ciliary dyskinesia
  JOURNAL   J Med Genet 57 (4), 237-244 (2020)
   PUBMED   31772028
  REMARK    GeneRIF: Deep phenotyping, including quantitative ciliary beating
            parameters, and extensive genotyping in primary ciliary dyskinesia.
REFERENCE   5  (residues 1 to 941)
  AUTHORS   Fassad,M.R., Shoman,W.I., Morsy,H., Patel,M.P., Radwan,N.,
            Jenkins,L., Cullup,T., Fouda,E., Mitchison,H.M. and Fasseeh,N.
  TITLE     Clinical and genetic spectrum in 33 Egyptian families with
            suspected primary ciliary dyskinesia
  JOURNAL   Clin Genet 97 (3), 509-515 (2020)
   PUBMED   31650533
  REMARK    GeneRIF: Clinical and genetic spectrum in 33 Egyptian families with
            suspected primary ciliary dyskinesia.
REFERENCE   6  (residues 1 to 941)
  AUTHORS   Becker-Heck,A., Zohn,I.E., Okabe,N., Pollock,A., Lenhart,K.B.,
            Sullivan-Brown,J., McSheene,J., Loges,N.T., Olbrich,H.,
            Haeffner,K., Fliegauf,M., Horvath,J., Reinhardt,R., Nielsen,K.G.,
            Marthin,J.K., Baktai,G., Anderson,K.V., Geisler,R., Niswander,L.,
            Omran,H. and Burdine,R.D.
  TITLE     The coiled-coil domain containing protein CCDC40 is essential for
            motile cilia function and left-right axis formation
  JOURNAL   Nat Genet 43 (1), 79-84 (2011)
   PUBMED   21131974
REFERENCE   7  (residues 1 to 941)
  AUTHORS   Merveille,A.C., Davis,E.E., Becker-Heck,A., Legendre,M., Amirav,I.,
            Bataille,G., Belmont,J., Beydon,N., Billen,F., Clement,A.,
            Clercx,C., Coste,A., Crosbie,R., de Blic,J., Deleuze,S.,
            Duquesnoy,P., Escalier,D., Escudier,E., Fliegauf,M., Horvath,J.,
            Hill,K., Jorissen,M., Just,J., Kispert,A., Lathrop,M., Loges,N.T.,
            Marthin,J.K., Momozawa,Y., Montantin,G., Nielsen,K.G., Olbrich,H.,
            Papon,J.F., Rayet,I., Roger,G., Schmidts,M., Tenreiro,H.,
            Towbin,J.A., Zelenika,D., Zentgraf,H., Georges,M., Lequarre,A.S.,
            Katsanis,N., Omran,H. and Amselem,S.
  TITLE     CCDC39 is required for assembly of inner dynein arms and the dynein
            regulatory complex and for normal ciliary motility in humans and
            dogs
  JOURNAL   Nat Genet 43 (1), 72-78 (2011)
   PUBMED   21131972
  REMARK    GeneRIF: Functional analyses indicated that CCDC39 localizes to
            ciliary axonemes and is essential for assembly of inner dynein arms
            and the dynein regulatory complex.
REFERENCE   8  (residues 1 to 941)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   9  (residues 1 to 941)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   10 (residues 1 to 941)
  AUTHORS   Zariwala,M.A., Knowles,M.R. and Leigh,M.W.
  TITLE     Primary Ciliary Dyskinesia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301301
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC399927.1, AL122120.1 and BG205877.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            Summary: The protein encoded by this gene is involved in the
            motility of cilia and flagella. The encoded protein is essential
            for the assembly of dynein regulatory and inner dynein arm
            complexes, which regulate ciliary beat. Defects in this gene are a
            cause of primary ciliary dyskinesia type 14 (CILD14). [provided by
            RefSeq, Jul 2011].
            
            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 :: AK304270.1, SRR1803615.176119.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148093
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000476379.6/ ENSP00000417960.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..941
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="3"
                     /map="3q26.33"
     Protein         1..941
                     /product="coiled-coil domain-containing protein 39"
                     /note="coiled-coil domain containing 39"
                     /calculated_mol_wt=109770
     Region          26..862
                     /region_name="SMC_prok_B"
                     /note="chromosome segregation protein SMC, common
                     bacterial type; TIGR02168"
                     /db_xref="CDD:274008"
     Region          868..941
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q9UFE4.3)"
     Site            892
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D5Y1; propagated from
                     UniProtKB/Swiss-Prot (Q9UFE4.3)"
     Site            900
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q9D5Y1; propagated from
                     UniProtKB/Swiss-Prot (Q9UFE4.3)"
     CDS             1..941
                     /gene="CCDC39"
                     /gene_synonym="CFAP59; CILD14; FAP59"
                     /coded_by="NM_181426.2:110..2935"
                     /db_xref="CCDS:CCDS46964.1"
                     /db_xref="GeneID:339829"
                     /db_xref="HGNC:HGNC:25244"
                     /db_xref="MIM:613798"
ORIGIN      
        1 msseflaelh wedgfaipva neenklledq lsklkderas lqdelreyee rinsmtshfk
       61 nvkqelsitq slckareret eseehfkaia qrelgrvkde iqrlenemas ilekksdken
      121 gifkatqkld glkcqmnwdq qaleawlees ahkdsdaltl qkyaqqddnk iraltlqler
      181 ltlecnqkrk ildnelteti saqleldkaa qdfrkihner qelikqwent ieqmqkrdgd
      241 idncalelar ikqetreken lvkekikfle seignntefe krisvadrkl lkcrtayqdh
      301 etsriqlkge ldslkatvnr tssdlealrk niskikkdih eetarlqktk nhneiiqtkl
      361 keitektmsv eekatnledm lkeeekdvke vdvqlnlikg vlfkkaqelq tetmkekavl
      421 seiegtrssl khlnhqlqkl dfetlkqqei mysqdfhiqq verrmsrlkg einseekqal
      481 eakivelrks leekkstcgl letqikklhn dlyfikkahs knsdekqslm tkinelnlfi
      541 drsekeldka kgfkqdlmie dnllklevkr tremlhskae evlslekrkq qlytameert
      601 eeikvhktml asqiryvdqe renistefre rlskieklkn ryeiltvvml ppegeeektq
      661 ayyvikaaqe keelqregdc ldakinkaek eiyalentlq vlnscnnnyk qsfkkvtpss
      721 deyelkiqle eqkravdeky rykqrqirel qediqsment ldviehlann vkeklsekqa
      781 ysfqlskete eqkpklervt kqcakltkei rllkdtkdet meeqdiklre mkqfhkvide
      841 mlvdiieent eiriilqtyf qqsglelpta stkgsrqssr spshtslsar ssrstststs
      901 qssikvlelk fpassslvgs psrpssasss ssnvkskkss k
//
