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Q9UFE4

- CCD39_HUMAN

UniProt

Q9UFE4 - CCD39_HUMAN

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Protein

Coiled-coil domain-containing protein 39

Gene

CCDC39

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli

Functioni

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.1 Publication

GO - Biological processi

  1. axonemal dynein complex assembly Source: UniProtKB
  2. cilium-dependent cell motility Source: UniProtKB
  3. determination of digestive tract left/right asymmetry Source: BHF-UCL
  4. determination of liver left/right asymmetry Source: BHF-UCL
  5. determination of pancreatic left/right asymmetry Source: BHF-UCL
  6. epithelial cilium movement involved in determination of left/right asymmetry Source: UniProtKB
  7. heart looping Source: BHF-UCL
  8. lung development Source: BHF-UCL
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 39
Gene namesi
Name:CCDC39
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:25244. CCDC39.

Subcellular locationi

Cytoplasmcytoskeletoncilium axoneme 2 Publications
Note: CCDC40 is required for localization to axonemes.

GO - Cellular componenti

  1. axoneme Source: UniProtKB
  2. cytoskeleton Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

MIMi613807. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA142672194.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 941941Coiled-coil domain-containing protein 39PRO_0000234493Add
BLAST

Proteomic databases

PaxDbiQ9UFE4.
PRIDEiQ9UFE4.

PTM databases

PhosphoSiteiQ9UFE4.

Expressioni

Tissue specificityi

Mainly expressed in nasal brushings and, to a lesser extent, in lungs and testis.1 Publication

Gene expression databases

BgeeiQ9UFE4.
CleanExiHS_CCDC39.
ExpressionAtlasiQ9UFE4. baseline and differential.
GenevestigatoriQ9UFE4.

Organism-specific databases

HPAiHPA035363.
HPA035364.

Interactioni

Protein-protein interaction databases

BioGridi130945. 2 interactions.
STRINGi9606.ENSP00000405708.

Structurei

3D structure databases

ProteinModelPortaliQ9UFE4.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili16 – 122107Sequence AnalysisAdd
BLAST
Coiled coili164 – 273110Sequence AnalysisAdd
BLAST
Coiled coili306 – 605300Sequence AnalysisAdd
BLAST
Coiled coili665 – 825161Sequence AnalysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi871 – 94070Ser-richAdd
BLAST

Sequence similaritiesi

Belongs to the CCDC39 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG117406.
GeneTreeiENSGT00390000015010.
HOGENOMiHOG000060183.
HOVERGENiHBG081041.
InParanoidiQ9UFE4.
OMAiILCNRRI.
PhylomeDBiQ9UFE4.
TreeFamiTF329312.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9UFE4-1) [UniParc]FASTAAdd to Basket

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.

« Hide

        10         20         30         40         50
MSSEFLAELH WEDGFAIPVA NEENKLLEDQ LSKLKDERAS LQDELREYEE
60 70 80 90 100
RINSMTSHFK NVKQELSITQ SLCKARERET ESEEHFKAIA QRELGRVKDE
110 120 130 140 150
IQRLENEMAS ILEKKSDKEN GIFKATQKLD GLKCQMNWDQ QALEAWLEES
160 170 180 190 200
AHKDSDALTL QKYAQQDDNK IRALTLQLER LTLECNQKRK ILDNELTETI
210 220 230 240 250
SAQLELDKAA QDFRKIHNER QELIKQWENT IEQMQKRDGD IDNCALELAR
260 270 280 290 300
IKQETREKEN LVKEKIKFLE SEIGNNTEFE KRISVADRKL LKCRTAYQDH
310 320 330 340 350
ETSRIQLKGE LDSLKATVNR TSSDLEALRK NISKIKKDIH EETARLQKTK
360 370 380 390 400
NHNEIIQTKL KEITEKTMSV EEKATNLEDM LKEEEKDVKE VDVQLNLIKG
410 420 430 440 450
VLFKKAQELQ TETMKEKAVL SEIEGTRSSL KHLNHQLQKL DFETLKQQEI
460 470 480 490 500
MYSQDFHIQQ VERRMSRLKG EINSEEKQAL EAKIVELRKS LEEKKSTCGL
510 520 530 540 550
LETQIKKLHN DLYFIKKAHS KNSDEKQSLM TKINELNLFI DRSEKELDKA
560 570 580 590 600
KGFKQDLMIE DNLLKLEVKR TREMLHSKAE EVLSLEKRKQ QLYTAMEERT
610 620 630 640 650
EEIKVHKTML ASQIRYVDQE RENISTEFRE RLSKIEKLKN RYEILTVVML
660 670 680 690 700
PPEGEEEKTQ AYYVIKAAQE KEELQREGDC LDAKINKAEK EIYALENTLQ
710 720 730 740 750
VLNSCNNNYK QSFKKVTPSS DEYELKIQLE EQKRAVDEKY RYKQRQIREL
760 770 780 790 800
QEDIQSMENT LDVIEHLANN VKEKLSEKQA YSFQLSKETE EQKPKLERVT
810 820 830 840 850
KQCAKLTKEI RLLKDTKDET MEEQDIKLRE MKQFHKVIDE MLVDIIEENT
860 870 880 890 900
EIRIILQTYF QQSGLELPTA STKGSRQSSR SPSHTSLSAR SSRSTSTSTS
910 920 930 940
QSSIKVLELK FPASSSLVGS PSRPSSASSS SSNVKSKKSS K
Length:941
Mass (Da):109,901
Last modified:May 18, 2010 - v3
Checksum:i1B7DAFB1B9A30D14
GO
Isoform 2 (identifier: Q9UFE4-2) [UniParc]FASTAAdd to Basket

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.

Show »
Length:755
Mass (Da):88,230
Checksum:iB971EE2F7E0F958B
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti452 – 4521Y → H in BAG65133. (PubMed:14702039)Curated
Sequence conflicti811 – 8111R → H in BAG65133. (PubMed:14702039)Curated

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MEYIFPNTGVLWSWLINILC NRRIVWFTSSQLPRGPPASS GGHSFHTLRERSESRLFVES YAAAWQPPGTSGGASCCSSL SAQVM in isoform 2. 1 PublicationVSP_037014
Alternative sequencei667 – 6715AAQEK → VMSMS in isoform 2. 1 PublicationVSP_037015
Alternative sequencei672 – 941270Missing in isoform 2. 1 PublicationVSP_037016Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK304270 mRNA. Translation: BAG65133.1.
AL122120 mRNA. Translation: CAB59277.1.
AC068298 Genomic DNA. No translation available.
CCDSiCCDS46964.1. [Q9UFE4-1]
PIRiT34567.
RefSeqiNP_852091.1. NM_181426.1. [Q9UFE4-1]
UniGeneiHs.712820.

Genome annotation databases

EnsembliENST00000442201; ENSP00000405708; ENSG00000145075. [Q9UFE4-1]
GeneIDi339829.
KEGGihsa:339829.
UCSCiuc010hxe.3. human. [Q9UFE4-1]

Polymorphism databases

DMDMi296439421.

Keywords - Coding sequence diversityi

Alternative splicing

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK304270 mRNA. Translation: BAG65133.1 .
AL122120 mRNA. Translation: CAB59277.1 .
AC068298 Genomic DNA. No translation available.
CCDSi CCDS46964.1. [Q9UFE4-1 ]
PIRi T34567.
RefSeqi NP_852091.1. NM_181426.1. [Q9UFE4-1 ]
UniGenei Hs.712820.

3D structure databases

ProteinModelPortali Q9UFE4.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 130945. 2 interactions.
STRINGi 9606.ENSP00000405708.

PTM databases

PhosphoSitei Q9UFE4.

Polymorphism databases

DMDMi 296439421.

Proteomic databases

PaxDbi Q9UFE4.
PRIDEi Q9UFE4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000442201 ; ENSP00000405708 ; ENSG00000145075 . [Q9UFE4-1 ]
GeneIDi 339829.
KEGGi hsa:339829.
UCSCi uc010hxe.3. human. [Q9UFE4-1 ]

Organism-specific databases

CTDi 339829.
GeneCardsi GC03M180320.
GeneReviewsi CCDC39.
H-InvDB HIX0003887.
HGNCi HGNC:25244. CCDC39.
HPAi HPA035363.
HPA035364.
MIMi 613798. gene.
613807. phenotype.
neXtProti NX_Q9UFE4.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA142672194.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG117406.
GeneTreei ENSGT00390000015010.
HOGENOMi HOG000060183.
HOVERGENi HBG081041.
InParanoidi Q9UFE4.
OMAi ILCNRRI.
PhylomeDBi Q9UFE4.
TreeFami TF329312.

Miscellaneous databases

GenomeRNAii 339829.
NextBioi 97565.
PROi Q9UFE4.
SOURCEi Search...

Gene expression databases

Bgeei Q9UFE4.
CleanExi HS_CCDC39.
ExpressionAtlasi Q9UFE4. baseline and differential.
Genevestigatori Q9UFE4.

Family and domain databases

ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. 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.
    , 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. Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN CILD14, TISSUE SPECIFICITY.
  5. Cited for: SUBCELLULAR LOCATION.

Entry informationi

Entry nameiCCD39_HUMAN
AccessioniPrimary (citable) accession number: Q9UFE4
Secondary accession number(s): B4E2H1
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 88 of the entry and version 3 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3