LOCUS       NP_001273506            2353 aa            linear   PRI 30-APR-2025
DEFINITION  C2 domain-containing protein 3 isoform 1 [Homo sapiens].
ACCESSION   NP_001273506 XP_005273951
VERSION     NP_001273506.1
DBSOURCE    REFSEQ: accession NM_001286577.2
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 2353)
  AUTHORS   Gaudin,N., Martin Gil,P., Boumendjel,M., Ershov,D.,
            Pioche-Durieu,C., Bouix,M., Delobelle,Q., Maniscalco,L.,
            Phan,T.B.N., Heyer,V., Reina-San-Martin,B. and Azimzadeh,J.
  TITLE     Evolutionary conservation of centriole rotational asymmetry in the
            human centrosome
  JOURNAL   Elife 11, e72382 (2022)
   PUBMED   35319462
  REMARK    GeneRIF: Evolutionary conservation of centriole rotational
            asymmetry in the human centrosome.
            Publication Status: Online-Only
REFERENCE   2  (residues 1 to 2353)
  AUTHORS   Tsai,J.J., Hsu,W.B., Liu,J.H., Chang,C.W. and Tang,T.K.
  TITLE     CEP120 interacts with C2CD3 and Talpid3 and is required for
            centriole appendage assembly and ciliogenesis
  JOURNAL   Sci Rep 9 (1), 6037 (2019)
   PUBMED   30988386
  REMARK    GeneRIF: CEP120 interacts with C2CD3 and Talpid3 and is required
            for centriole appendage assembly and ciliogenesis.
            Erratum:[Sci Rep. 2020 Jan 22;10(1):1265. doi:
            10.1038/s41598-020-58151-y. PMID: 31965052]
            Publication Status: Online-Only
REFERENCE   3  (residues 1 to 2353)
  AUTHORS   Boczek,N.J., Hopp,K., Benoit,L., Kraft,D., Cousin,M.A.,
            Blackburn,P.R., Madsen,C.D., Oliver,G.R., Nair,A.A., Na,J.,
            Bianchi,D.W., Beek,G., Harris,P.C., Pichurin,P. and Klee,E.W.
  TITLE     Characterization of three ciliopathy pedigrees expands the
            phenotype associated with biallelic C2CD3 variants
  JOURNAL   Eur J Hum Genet 26 (12), 1797-1809 (2018)
   PUBMED   30097616
  REMARK    GeneRIF: Biallelic C2CD3 variants lead to a broad spectrum of
            ciliopathy phenotypes.
REFERENCE   4  (residues 1 to 2353)
  AUTHORS   Wang,L., Failler,M., Fu,W. and Dynlacht,B.D.
  TITLE     A distal centriolar protein network controls organelle maturation
            and asymmetry
  JOURNAL   Nat Commun 9 (1), 3938 (2018)
   PUBMED   30258116
  REMARK    GeneRIF: Talpid3, C2CD3, and OFD1 differentially regulate the
            assembly of centriole sub-distal appendages, the CEP350/FOP/CEP19
            module, centriolar satellites, and actin networks.
            Publication Status: Online-Only
REFERENCE   5  (residues 1 to 2353)
  AUTHORS   Thauvin-Robinet,C., Lee,J.S., Lopez,E., Herranz-Perez,V., Shida,T.,
            Franco,B., Jego,L., Ye,F., Pasquier,L., Loget,P., Gigot,N.,
            Aral,B., Lopes,C.A., St-Onge,J., Bruel,A.L., Thevenon,J.,
            Gonzalez-Granero,S., Alby,C., Munnich,A., Vekemans,M., Huet,F.,
            Fry,A.M., Saunier,S., Riviere,J.B., Attie-Bitach,T.,
            Garcia-Verdugo,J.M., Faivre,L., Megarbane,A. and Nachury,M.V.
  TITLE     The oral-facial-digital syndrome gene C2CD3 encodes a positive
            regulator of centriole elongation
  JOURNAL   Nat Genet 46 (8), 905-911 (2014)
   PUBMED   24997988
  REMARK    GeneRIF: Loss of C2CD3 results in short centrioles without
            subdistal and distal appendages.
REFERENCE   6  (residues 1 to 2353)
  AUTHORS   Balestra,F.R., Strnad,P., Fluckiger,I. and Gonczy,P.
  TITLE     Discovering regulators of centriole biogenesis through siRNA-based
            functional genomics in human cells
  JOURNAL   Dev Cell 25 (6), 555-571 (2013)
   PUBMED   23769972
  REMARK    Erratum:[Dev Cell. 2013 Jul 29;26(2):220]
REFERENCE   7  (residues 1 to 2353)
  AUTHORS   Wang,V.W., Laborde,R.R., Asmann,Y.W., Li,Y., Ma,J., Eckloff,B.W.,
            Tombers,N.M., Olsen,S.M., Moore,E.J., Olsen,K.D. and Smith,D.I.
  TITLE     Search for chromosome rearrangements: new approaches toward
            discovery of novel translocations in head and neck squamous cell
            carcinoma
  JOURNAL   Head Neck 35 (6), 831-835 (2013)
   PUBMED   22807096
REFERENCE   8  (residues 1 to 2353)
  AUTHORS   Zhang,D. and Aravind,L.
  TITLE     Novel transglutaminase-like peptidase and C2 domains elucidate the
            structure, biogenesis and evolution of the ciliary compartment
  JOURNAL   Cell Cycle 11 (20), 3861-3875 (2012)
   PUBMED   22983010
REFERENCE   9  (residues 1 to 2353)
  AUTHORS   Hoover,A.N., Wynkoop,A., Zeng,H., Jia,J., Niswander,L.A. and Liu,A.
  TITLE     C2cd3 is required for cilia formation and Hedgehog signaling in
            mouse
  JOURNAL   Development 135 (24), 4049-4058 (2008)
   PUBMED   19004860
REFERENCE   10 (residues 1 to 2353)
  AUTHORS   Glass,I.A., Dempsey,J.C., Parisi,M. and Doherty,D.
  TITLE     Joubert Syndrome
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301500
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AP002392.3 and AP003717.3.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 8, 2013 this sequence version replaced XP_005273951.1.
            
            Summary: This gene encodes a protein that functions as a regulator
            of centriole elongation. Studies of the orthologous mouse protein
            show that it promotes centriolar distal appendage assembly and is
            also required for the recruitment of other ciliogenic proteins,
            including intraflagellar transport proteins. Mutations in this gene
            cause orofaciodigital syndrome XIV (OFD14), a ciliopathy resulting
            in malformations of the oral cavity, face and digits. Alternative
            splicing of this gene results in multiple transcript variants.
            [provided by RefSeq, Nov 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (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 :: SRR1803615.240449.1,
                                           SRR14038195.944629.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000334126.12/ ENSP00000334379.7
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
FEATURES             Location/Qualifiers
     source          1..2353
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="11"
                     /map="11q13.4"
     Protein         1..2353
                     /product="C2 domain-containing protein 3 isoform 1"
                     /note="C2 domain-containing protein 3; C2 calcium
                     dependent domain containing 3"
                     /calculated_mol_wt=260259
     Region          1..27
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4AC94.4)"
     Site            466
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q52KB6; propagated from
                     UniProtKB/Swiss-Prot (Q4AC94.4)"
     Region          488..508
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4AC94.4)"
     Region          549..568
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4AC94.4)"
     Site            728
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q4AC94.4)"
     Region          1199..1341
                     /region_name="C2_C2cd3"
                     /note="C2 domain found in C2 calcium-dependent domain
                     containing 3 (C2cd3) proteins; cd08683"
                     /db_xref="CDD:176065"
     Region          1569..1591
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4AC94.4)"
     Region          <1679..1747
                     /region_name="C2"
                     /note="C2 domain; cd00030"
                     /db_xref="CDD:175973"
     Region          1822..1846
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4AC94.4)"
     Site            1891
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q4AC94.4)"
     Region          1972..2032
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4AC94.4)"
     Region          1974..>2330
                     /region_name="PHA03307"
                     /note="transcriptional regulator ICP4; Provisional"
                     /db_xref="CDD:223039"
     Region          2084..2118
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4AC94.4)"
     Site            2114
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:18220336,
                     ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q4AC94.4)"
     Region          2130..2269
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4AC94.4)"
     Site            2132
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0007744|PubMed:23186163; propagated from
                     UniProtKB/Swiss-Prot (Q4AC94.4)"
     Region          2301..2334
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q4AC94.4)"
     CDS             1..2353
                     /gene="C2CD3"
                     /gene_synonym="OFD14"
                     /coded_by="NM_001286577.2:211..7272"
                     /note="isoform 1 is encoded by transcript variant 1"
                     /db_xref="CCDS:CCDS66167.1"
                     /db_xref="GeneID:26005"
                     /db_xref="HGNC:HGNC:24564"
                     /db_xref="MIM:615944"
ORIGIN      
        1 mkqrkgqgsg gsrgrkkrgl sdispstslp plvegqlrcf lkltvnrviw kiakpptcvl
       61 vrvrwwgets dgtlfcprda lqtepkavrt ttryaircgp kqftsyltdm avlvlevitk
      121 ldglpigrvq inglaqlspt hqingfftiv sstskklgel qvslalepls etydsyhplp
      181 ttdmtenvll skqgfrente psstqfqvps rprdihtiki dgkelaanss rsttprgkdh
      241 vcfaenpdti kdssfglqhs lnsgqslesv tlkgraprkq msllnssefq pqirtvaksh
      301 sdscilssnn lptkdllsal leqgnklrna mvisamkssp etsmlldqvh ppinedslra
      361 stqirafsrn rfkdhiedhl lpstentfwr hdtkadtrai qlllgsaels qgnfwdglgs
      421 ppdspspgsd vyciselndp qydqsllenl fytapksdts isdflseedd ivpskkisqs
      481 talarsskvl essdhklkkr sagkrnrnlv eqqmlsetpe daqtmtlsvd rlallgrths
      541 vriiietmgv ppdspqmtpg kksyagpppk vttakkrtff veyhfpvgfs esglgktali
      601 tevvrlassk itdgkvkfqq rfvfpvqfgg pmiehwwnsn ltfqiyvkkt pqkkpevigs
      661 vslslraviq sellsfsdql pvqqengqsp fgplkvtmel itdnkdftgi ntklsgnthy
      721 tplcaptspn kalpelnqdm tctknpqnln qiheetakka qnlvlpnrks pspvaphpst
      781 fvatpashnl vnqtngttke salllhvllm vpdgkdfisg esekqspcnv ylncklfste
      841 evtrsviawg ttqpvfnfsq vipvslssky lerlknnvmv ietwnkvrsp gqdkllglvk
      901 lplhqfymsf kdakisrlll daqypvvavd sympvidvfs ghqngslrvf lamgssnqim
      961 alqrlkneeg tlppfsprpa hfldqptaas vamaedrgng lmehcfeihi emvkglaplq
     1021 atvwgeadcy vqyyfpvqhs qssvlkgpef lengitlkpf rtattlcvpd pifnsehhhs
     1081 lllpaevpvq rlllsafsaq glvpgggvqf eiwcryyypn vrdqkvakgt lplsricamv
     1141 ttqhredvgi qtfnlpltpr ienrkelrnq ssglldvglr yrrsprtaeg vlaartvsis
     1201 vqiiracglq aaakalaere palqfsatvg vnasvtthls flpqgeqrrt hpvacsfcpe
     1261 fshhveftcn lvtqhcsgea cflaellefa evifavyhen tksasdiisi esckeyllgv
     1321 vkvptkelli krsgitgwyp iilpedgglp hglelmqkiv gglelsisft hrgdrervle
     1381 aaehlgwsfe nslkdfvrmd egepatvtis tprlwlpihc vllaghnhih kntycylryk
     1441 fydheafwtp lkkpkesvnk kqimvtfkas kraevtrgps llwyfreerl eiqvwraygn
     1501 dsverphqtd swigsayvdl arlgersart ltvsgvyplf grnasnlsga alrvhvvlss
     1561 lsshlepthe ldsmdcsshs eseqlprrnd evqlsppevi schqkspast qvpcssttae
     1621 vrltqegpad ldgtfavsil veramhlslk gsplterkvs ipsccvsfat adesspvytq
     1681 vventdspiw nfqqqsrlsk ellldpqqtl vfkvwhkgde ervigfasvd lspllsgfqf
     1741 vcgwynitdf sgecqgqikv avspleslih fkeerqarrg vetskslipi yspfsfpasd
     1801 tyaafsshma rqtldqlaha sskeldfssp grsdttrsqa srheehvqni rrfheslhlq
     1861 geaplpcddk lttsplssqt siltslrknl seldqiqryf rqkltkpflp lspqtqtais
     1921 qhqescrdhl gpgassldpg sqcilekssn lvlqvsslit dlqtitrdsq aalsshrars
     1981 rsnkattlpd aqdtealqer ctmpdeplvr apdkgtdsps pppleetsng grmlheslrh
     2041 avpitrmqss edteagpays dedyeediie prtlneittv tdktspwssv isdtsevisp
     2101 qpdevqregp scpspgpfcr eelmvkssfl ssperavnph lprqgspsqs lvaceceask
     2161 arvggesasa npqpipcptl sgaqqsstfv gwsspqtdqn kepkseapae neaatselgd
     2221 sadsfkklpl nlasqsrren hkgppidssd irqrqvttgs etstkqslll pgpivvpnff
     2281 lppqqleasl rmlslsatlp paattdqdks eatrgalsqr pcrprpnslp lnlpeeetlr
     2341 iarifssqys qkd
//
