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

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

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 39
PRO_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

ArrayExpressiQ9UFE4.
BgeeiQ9UFE4.
CleanExiHS_CCDC39.
GenevestigatoriQ9UFE4.

Organism-specific databases

HPAiHPA035363.
HPA035364.

Interactioni

Protein-protein interaction databases

BioGridi130945. 2 interactions.
STRINGi9606.ENSP00000405708.

Structurei

3D structure databases

ProteinModelPortaliQ9UFE4.

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili16 – 122107 Reviewed prediction
Add
BLAST
Coiled coili164 – 273110 Reviewed prediction
Add
BLAST
Coiled coili306 – 605300 Reviewed prediction
Add
BLAST
Coiled coili665 – 825161 Reviewed prediction
Add
BLAST

Compositional bias

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

Sequence similaritiesi

Belongs to the CCDC39 family.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG117406.
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

MSSEFLAELH WEDGFAIPVA NEENKLLEDQ LSKLKDERAS LQDELREYEE    50
RINSMTSHFK NVKQELSITQ SLCKARERET ESEEHFKAIA QRELGRVKDE 100
IQRLENEMAS ILEKKSDKEN GIFKATQKLD GLKCQMNWDQ QALEAWLEES 150
AHKDSDALTL QKYAQQDDNK IRALTLQLER LTLECNQKRK ILDNELTETI 200
SAQLELDKAA QDFRKIHNER QELIKQWENT IEQMQKRDGD IDNCALELAR 250
IKQETREKEN LVKEKIKFLE SEIGNNTEFE KRISVADRKL LKCRTAYQDH 300
ETSRIQLKGE LDSLKATVNR TSSDLEALRK NISKIKKDIH EETARLQKTK 350
NHNEIIQTKL KEITEKTMSV EEKATNLEDM LKEEEKDVKE VDVQLNLIKG 400
VLFKKAQELQ TETMKEKAVL SEIEGTRSSL KHLNHQLQKL DFETLKQQEI 450
MYSQDFHIQQ VERRMSRLKG EINSEEKQAL EAKIVELRKS LEEKKSTCGL 500
LETQIKKLHN DLYFIKKAHS KNSDEKQSLM TKINELNLFI DRSEKELDKA 550
KGFKQDLMIE DNLLKLEVKR TREMLHSKAE EVLSLEKRKQ QLYTAMEERT 600
EEIKVHKTML ASQIRYVDQE RENISTEFRE RLSKIEKLKN RYEILTVVML 650
PPEGEEEKTQ AYYVIKAAQE KEELQREGDC LDAKINKAEK EIYALENTLQ 700
VLNSCNNNYK QSFKKVTPSS DEYELKIQLE EQKRAVDEKY RYKQRQIREL 750
QEDIQSMENT LDVIEHLANN VKEKLSEKQA YSFQLSKETE EQKPKLERVT 800
KQCAKLTKEI RLLKDTKDET MEEQDIKLRE MKQFHKVIDE MLVDIIEENT 850
EIRIILQTYF QQSGLELPTA STKGSRQSSR SPSHTSLSAR SSRSTSTSTS 900
QSSIKVLELK FPASSSLVGS PSRPSSASSS SSNVKSKKSS K 941
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

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 11M → MEYIFPNTGVLWSWLINILC NRRIVWFTSSQLPRGPPASS GGHSFHTLRERSESRLFVES YAAAWQPPGTSGGASCCSSL SAQVM in isoform 2.
VSP_037014
Alternative sequencei667 – 6715AAQEK → VMSMS in isoform 2.
VSP_037015
Alternative sequencei672 – 941270Missing in isoform 2.
VSP_037016Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti452 – 4521Y → H in BAG65133. 1 Publication
Sequence conflicti811 – 8111R → H in BAG65133. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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

EnsembliENST00000273654; ENSP00000273654; ENSG00000145075. [Q9UFE4-2]
ENST00000442201; 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:
EMBL
GenBank
DDBJ
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...

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 ENST00000273654 ; ENSP00000273654 ; ENSG00000145075 . [Q9UFE4-2 ]
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.
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

ArrayExpressi Q9UFE4.
Bgeei Q9UFE4.
CleanExi HS_CCDC39.
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: July 9, 2014
This is version 86 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

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