ID   CCD30_HUMAN             Reviewed;         783 AA.
AC   Q5VVM6; Q14F06; Q5VVM5;
DT   20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT   07-DEC-2004, sequence version 1.
DT   03-AUG-2022, entry version 123.
DE   RecName: Full=Coiled-coil domain-containing protein 30;
DE   AltName: Full=Prefoldin subunit 6-like protein;
GN   Name=CCDC30; Synonyms=PFDN6L;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), AND TISSUE SPECIFICITY.
RC   TISSUE=Fetal brain;
RX   PubMed=16710767; DOI=10.1007/s10528-006-9008-3;
RA   Zhang J., Liu L., Zhang X., Jin F., Chen J., Ji C., Gu S., Xie Y., Mao Y.;
RT   "Cloning and characterization of a novel human prefoldin and SPEC domain
RT   protein gene (PFD6L) from the fetal brain.";
RL   Biochem. Genet. 44:69-74(2006).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA   Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA   Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA   Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA   Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA   Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA   Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA   Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA   Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA   McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA   Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA   White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA   Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA   Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA   Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q5VVM6-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q5VVM6-2; Sequence=VSP_033791, VSP_033792;
CC   -!- TISSUE SPECIFICITY: Expressed in brain, kidney, pancreas, placenta,
CC       liver, thymus and prostate. {ECO:0000269|PubMed:16710767}.
CC   -!- SIMILARITY: Belongs to the prefoldin subunit beta family.
CC       {ECO:0000305}.
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DR   EMBL; AY639646; AAX19141.1; -; mRNA.
DR   EMBL; AC098484; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL138788; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; AL445669; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   CCDS; CCDS30690.1; -. [Q5VVM6-1]
DR   RefSeq; NP_001074319.1; NM_001080850.2. [Q5VVM6-1]
DR   RefSeq; XP_011540369.1; XM_011542067.2.
DR   RefSeq; XP_011540370.1; XM_011542068.2. [Q5VVM6-1]
DR   RefSeq; XP_016857714.1; XM_017002225.1.
DR   RefSeq; XP_016857715.1; XM_017002226.1. [Q5VVM6-1]
DR   AlphaFoldDB; Q5VVM6; -.
DR   SMR; Q5VVM6; -.
DR   BioGRID; 609043; 6.
DR   IntAct; Q5VVM6; 2.
DR   STRING; 9606.ENSP00000339280; -.
DR   GlyGen; Q5VVM6; 1 site, 1 O-linked glycan (1 site).
DR   iPTMnet; Q5VVM6; -.
DR   PhosphoSitePlus; Q5VVM6; -.
DR   BioMuta; CCDC30; -.
DR   DMDM; 74747263; -.
DR   EPD; Q5VVM6; -.
DR   jPOST; Q5VVM6; -.
DR   MassIVE; Q5VVM6; -.
DR   PaxDb; Q5VVM6; -.
DR   PeptideAtlas; Q5VVM6; -.
DR   PRIDE; Q5VVM6; -.
DR   ProteomicsDB; 65476; -. [Q5VVM6-1]
DR   ProteomicsDB; 65477; -. [Q5VVM6-2]
DR   Antibodypedia; 52243; 67 antibodies from 11 providers.
DR   DNASU; 728621; -.
DR   Ensembl; ENST00000342022.8; ENSP00000339280.4; ENSG00000186409.18. [Q5VVM6-1]
DR   Ensembl; ENST00000428554.6; ENSP00000397035.2; ENSG00000186409.18. [Q5VVM6-1]
DR   GeneID; 728621; -.
DR   KEGG; hsa:728621; -.
DR   UCSC; uc001chn.3; human. [Q5VVM6-1]
DR   CTD; 728621; -.
DR   DisGeNET; 728621; -.
DR   GeneCards; CCDC30; -.
DR   HGNC; HGNC:26103; CCDC30.
DR   HPA; ENSG00000186409; Tissue enhanced (choroid).
DR   MalaCards; CCDC30; -.
DR   neXtProt; NX_Q5VVM6; -.
DR   OpenTargets; ENSG00000186409; -.
DR   PharmGKB; PA165750513; -.
DR   VEuPathDB; HostDB:ENSG00000186409; -.
DR   eggNOG; ENOG502SNA5; Eukaryota.
DR   GeneTree; ENSGT00390000007816; -.
DR   HOGENOM; CLU_022791_0_0_1; -.
DR   InParanoid; Q5VVM6; -.
DR   OrthoDB; 185685at2759; -.
DR   PhylomeDB; Q5VVM6; -.
DR   TreeFam; TF333239; -.
DR   PathwayCommons; Q5VVM6; -.
DR   SignaLink; Q5VVM6; -.
DR   BioGRID-ORCS; 728621; 16 hits in 1071 CRISPR screens.
DR   ChiTaRS; CCDC30; human.
DR   GenomeRNAi; 728621; -.
DR   Pharos; Q5VVM6; Tdark.
DR   PRO; PR:Q5VVM6; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; Q5VVM6; protein.
DR   Bgee; ENSG00000186409; Expressed in right uterine tube and 105 other tissues.
DR   ExpressionAtlas; Q5VVM6; baseline and differential.
DR   Genevisible; Q5VVM6; HS.
DR   InterPro; IPR031476; DUF4686.
DR   Pfam; PF15742; DUF4686; 1.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Coiled coil; Reference proteome.
FT   CHAIN           1..783
FT                   /note="Coiled-coil domain-containing protein 30"
FT                   /id="PRO_0000336044"
FT   REGION          1..26
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          101..191
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          209..231
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   REGION          731..755
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COILED          22..98
FT                   /evidence="ECO:0000255"
FT   COILED          165..497
FT                   /evidence="ECO:0000255"
FT   COILED          527..622
FT                   /evidence="ECO:0000255"
FT   COMPBIAS        101..120
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        121..191
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         1..211
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:16710767"
FT                   /id="VSP_033791"
FT   VAR_SEQ         212..224
FT                   /note="SQSSGDSSDDSGA -> MIHPPRPPKVLGL (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:16710767"
FT                   /id="VSP_033792"
FT   VARIANT         772
FT                   /note="H -> N (in dbSNP:rs16829829)"
FT                   /id="VAR_043472"
FT   CONFLICT        282
FT                   /note="E -> G (in Ref. 1; AAX19141)"
FT                   /evidence="ECO:0000305"
SQ   SEQUENCE   783 AA;  91333 MW;  3EB830E4581BF45C CRC64;
     MSQEKNEMFE SEWSKERERE KQLASGLDTA EKALKVESEE LQKSKSELIC LYNEVHNLPG
     ESESKDHFLI ACDLLQRENS ELETKVLKLS QEFAQLNHFT LGGKTAPSNL ITSENTCKDP
     ESNEPILETE IQSRKEETEE LCPKLGERKQ KEIPEESVKE GSFPREGQKE EGSQQNRDMK
     DEEKEQQLTM KPEEIVRLRE ELSHINQSLL QSQSSGDSSD DSGAQHPSSG EKLKYNQQGE
     VQQLHQNLHR LQILCNSAEN ELRYERGQNL DLKQHNSLLQ EENIKIKIEL KHAQQKLLDS
     TKMCSSLTAE YKHCQQKIKE LELEVLKHTQ SIKSQNNLQE KLVQEKSKVA DAEEKILDLQ
     RKLEHAHKVC LTDTCISEKQ QLEEKIKEAT QNEAKVKQQY QEEQQKRKLL YQNVDELHRQ
     VRTLQDKENL LEMTCSQQQS RIQQQEALLK QLENEKRKYD EHVKSNQELS EKLSKLQQEK
     EALREEYLRL LKLLNVHVRN YNEKHHQQKV KLQKVKYRLT NEVELRDKRI NQFEDEIGIL
     QHKIEKEKAI QDQITAQNDT LLLEKRKLQE QVIEQEQLIH SNKWTISSIQ SRVLYMDKEN
     KQLQENSLRL TQQIGFLERI IRSIHIRRGE NLKEFPVPKW WHRGKLASLP PTKKQKEIYS
     TEVFTSNNAE LQHEDESVPE ATEKWKHSEQ METTISDILE SEVVNEILPL SNSSFSGKGL
     VESFASLQET EEIKSKEAMA SSKSPEKSPE NLVCSQNSEA GYINVASLKE THGIQEQDQK
     SEL