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Q9UFE4 (CCD39_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 86. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Coiled-coil domain-containing protein 39
Gene names
Name:CCDC39
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length941 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

Required for assembly of dynein regulatory complex (DRC) and inner dynein arm complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Not required for outer dynein arm complexes assembly. Ref.4

Subcellular location

Cytoplasmcytoskeletoncilium axoneme. Note: CCDC40 is required for localization to axonemes. Ref.4 Ref.5

Tissue specificity

Mainly expressed in nasal brushings and, to a lesser extent, in lungs and testis. Ref.4

Involvement in disease

Ciliary dyskinesia, primary, 14 (CILD14) [MIM:613807]: A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.4

Sequence similarities

Belongs to the CCDC39 family.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q9UFE4-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q9UFE4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-1: M → MEYIFPNTGV...CCSSLSAQVM
     667-671: AAQEK → VMSMS
     672-941: Missing.
Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 941941Coiled-coil domain-containing protein 39
PRO_0000234493

Regions

Coiled coil16 – 122107 Potential
Coiled coil164 – 273110 Potential
Coiled coil306 – 605300 Potential
Coiled coil665 – 825161 Potential
Compositional bias871 – 94070Ser-rich

Natural variations

Alternative sequence11M → MEYIFPNTGVLWSWLINILC NRRIVWFTSSQLPRGPPASS GGHSFHTLRERSESRLFVES YAAAWQPPGTSGGASCCSSL SAQVM in isoform 2.
VSP_037014
Alternative sequence667 – 6715AAQEK → VMSMS in isoform 2.
VSP_037015
Alternative sequence672 – 941270Missing in isoform 2.
VSP_037016

Experimental info

Sequence conflict4521Y → H in BAG65133. Ref.1
Sequence conflict8111R → H in BAG65133. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 1B7DAFB1B9A30D14

FASTA941109,901
        10         20         30         40         50         60 
MSSEFLAELH WEDGFAIPVA NEENKLLEDQ LSKLKDERAS LQDELREYEE RINSMTSHFK 

        70         80         90        100        110        120 
NVKQELSITQ SLCKARERET ESEEHFKAIA QRELGRVKDE IQRLENEMAS ILEKKSDKEN 

       130        140        150        160        170        180 
GIFKATQKLD GLKCQMNWDQ QALEAWLEES AHKDSDALTL QKYAQQDDNK IRALTLQLER 

       190        200        210        220        230        240 
LTLECNQKRK ILDNELTETI SAQLELDKAA QDFRKIHNER QELIKQWENT IEQMQKRDGD 

       250        260        270        280        290        300 
IDNCALELAR IKQETREKEN LVKEKIKFLE SEIGNNTEFE KRISVADRKL LKCRTAYQDH 

       310        320        330        340        350        360 
ETSRIQLKGE LDSLKATVNR TSSDLEALRK NISKIKKDIH EETARLQKTK NHNEIIQTKL 

       370        380        390        400        410        420 
KEITEKTMSV EEKATNLEDM LKEEEKDVKE VDVQLNLIKG VLFKKAQELQ TETMKEKAVL 

       430        440        450        460        470        480 
SEIEGTRSSL KHLNHQLQKL DFETLKQQEI MYSQDFHIQQ VERRMSRLKG EINSEEKQAL 

       490        500        510        520        530        540 
EAKIVELRKS LEEKKSTCGL LETQIKKLHN DLYFIKKAHS KNSDEKQSLM TKINELNLFI 

       550        560        570        580        590        600 
DRSEKELDKA KGFKQDLMIE DNLLKLEVKR TREMLHSKAE EVLSLEKRKQ QLYTAMEERT 

       610        620        630        640        650        660 
EEIKVHKTML ASQIRYVDQE RENISTEFRE RLSKIEKLKN RYEILTVVML PPEGEEEKTQ 

       670        680        690        700        710        720 
AYYVIKAAQE KEELQREGDC LDAKINKAEK EIYALENTLQ VLNSCNNNYK QSFKKVTPSS 

       730        740        750        760        770        780 
DEYELKIQLE EQKRAVDEKY RYKQRQIREL QEDIQSMENT LDVIEHLANN VKEKLSEKQA 

       790        800        810        820        830        840 
YSFQLSKETE EQKPKLERVT KQCAKLTKEI RLLKDTKDET MEEQDIKLRE MKQFHKVIDE 

       850        860        870        880        890        900 
MLVDIIEENT EIRIILQTYF QQSGLELPTA STKGSRQSSR SPSHTSLSAR SSRSTSTSTS 

       910        920        930        940 
QSSIKVLELK FPASSSLVGS PSRPSSASSS SSNVKSKKSS K 

« Hide

Isoform 2 [UniParc].

Checksum: B971EE2F7E0F958B
Show »

FASTA75588,230

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Trachea.
[2]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Testis.
[3]"The DNA sequence, annotation and analysis of human chromosome 3."
Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J. expand/collapse author list , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs."
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. expand/collapse author list , 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., Amselem S.
Nat. Genet. 43:72-78(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN CILD14, TISSUE SPECIFICITY.
[5]"The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation."
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. expand/collapse author list , Niswander L., Omran H., Burdine R.D.
Nat. Genet. 43:79-84(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK304270 mRNA. Translation: BAG65133.1.
AL122120 mRNA. Translation: CAB59277.1.
AC068298 Genomic DNA. No translation available.
CCDSCCDS46964.1. [Q9UFE4-1]
PIRT34567.
RefSeqNP_852091.1. NM_181426.1. [Q9UFE4-1]
UniGeneHs.712820.

3D structure databases

ProteinModelPortalQ9UFE4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid130945. 2 interactions.
STRING9606.ENSP00000405708.

PTM databases

PhosphoSiteQ9UFE4.

Polymorphism databases

DMDM296439421.

Proteomic databases

PaxDbQ9UFE4.
PRIDEQ9UFE4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000273654; ENSP00000273654; ENSG00000145075. [Q9UFE4-2]
ENST00000442201; ENSP00000405708; ENSG00000145075. [Q9UFE4-1]
GeneID339829.
KEGGhsa:339829.
UCSCuc010hxe.3. human. [Q9UFE4-1]

Organism-specific databases

CTD339829.
GeneCardsGC03M180320.
GeneReviewsCCDC39.
H-InvDBHIX0003887.
HGNCHGNC:25244. CCDC39.
HPAHPA035363.
HPA035364.
MIM613798. gene.
613807. phenotype.
neXtProtNX_Q9UFE4.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA142672194.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG117406.
HOGENOMHOG000060183.
HOVERGENHBG081041.
InParanoidQ9UFE4.
OMAILCNRRI.
PhylomeDBQ9UFE4.
TreeFamTF329312.

Gene expression databases

ArrayExpressQ9UFE4.
BgeeQ9UFE4.
CleanExHS_CCDC39.
GenevestigatorQ9UFE4.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi339829.
NextBio97565.
PROQ9UFE4.
SOURCESearch...

Entry information

Entry nameCCD39_HUMAN
AccessionPrimary (citable) accession number: Q9UFE4
Secondary accession number(s): B4E2H1
Entry history
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 86 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human chromosome 3

Human chromosome 3: entries, gene names and cross-references to MIM