Q9UFE4 (CCD39_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Coiled-coil domain-containing protein 39

Gene names

Name:

CCDC39

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	941 AA.
Sequence status	Complete.
Protein existence	Evidence 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	Cytoplasm › cytoskeleton › cilium 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	Primary ciliary dyskinesia 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.

Ontologies

Keywords
Cellular component	Cell projection Cilium Cytoplasm Cytoskeleton
Coding sequence diversity	Alternative splicing
Disease	Ciliopathy Primary ciliary dyskinesia
Domain	Coiled coil
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	axonemal dynein complex assembly Inferred from mutant phenotype Ref.4. Source: UniProtKB ciliary cell motility Inferred from mutant phenotype Ref.4. Source: UniProtKB determination of digestive tract left/right asymmetry Inferred from mutant phenotype PubMed 22693285. Source: BHF-UCL determination of liver left/right asymmetry Inferred from mutant phenotype PubMed 22693285. Source: BHF-UCL determination of pancreatic left/right asymmetry Inferred from mutant phenotype PubMed 22693285. Source: BHF-UCL epithelial cilium movement involved in determination of left/right asymmetry Inferred from mutant phenotype Ref.4. Source: UniProtKB flagellar cell motility Inferred from mutant phenotype Ref.4. Source: UniProtKB heart looping Inferred from mutant phenotype PubMed 22693285. Source: BHF-UCL lung development Inferred from mutant phenotype PubMed 22693285. Source: BHF-UCL
Cellular_component	cilium axoneme Inferred from direct assay Ref.4Ref.5. Source: UniProtKB cytoskeleton Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 941	941	Coiled-coil domain-containing protein 39		PRO_0000234493
Regions
	Coiled coil	16 – 122	107	Potential
	Coiled coil	164 – 273	110	Potential
	Coiled coil	306 – 605	300	Potential
	Coiled coil	665 – 825	161	Potential
	Compositional bias	871 – 940	70	Ser-rich
Natural variations
	Alternative sequence	1	1	M → MEYIFPNTGVLWSWLINILC NRRIVWFTSSQLPRGPPASS GGHSFHTLRERSESRLFVES YAAAWQPPGTSGGASCCSSL SAQVM in isoform 2.		VSP_037014
	Alternative sequence	667 – 671	5	AAQEK → VMSMS in isoform 2.		VSP_037015
	Alternative sequence	672 – 941	270	Missing in isoform 2.		VSP_037016
Experimental info
	Sequence conflict	452	1	Y → H in BAG65133. Ref.1
	Sequence conflict	811	1	R → H in BAG65133. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 18, 2010. Version 3. Checksum: 1B7DAFB1B9A30D14	FASTA	941	109,901
	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
	Isoform 2 [UniParc]. Checksum: B971EE2F7E0F958B	FASTA	755	88,230
	10 20 30 40 50 60 MEYIFPNTGV LWSWLINILC NRRIVWFTSS QLPRGPPASS GGHSFHTLRE RSESRLFVES 70 80 90 100 110 120 YAAAWQPPGT SGGASCCSSL SAQVMSSEFL AELHWEDGFA IPVANEENKL LEDQLSKLKD 130 140 150 160 170 180 ERASLQDELR EYEERINSMT SHFKNVKQEL SITQSLCKAR ERETESEEHF KAIAQRELGR 190 200 210 220 230 240 VKDEIQRLEN EMASILEKKS DKENGIFKAT QKLDGLKCQM NWDQQALEAW LEESAHKDSD 250 260 270 280 290 300 ALTLQKYAQQ DDNKIRALTL QLERLTLECN QKRKILDNEL TETISAQLEL DKAAQDFRKI 310 320 330 340 350 360 HNERQELIKQ WENTIEQMQK RDGDIDNCAL ELARIKQETR EKENLVKEKI KFLESEIGNN 370 380 390 400 410 420 TEFEKRISVA DRKLLKCRTA YQDHETSRIQ LKGELDSLKA TVNRTSSDLE ALRKNISKIK 430 440 450 460 470 480 KDIHEETARL QKTKNHNEII QTKLKEITEK TMSVEEKATN LEDMLKEEEK DVKEVDVQLN 490 500 510 520 530 540 LIKGVLFKKA QELQTETMKE KAVLSEIEGT RSSLKHLNHQ LQKLDFETLK QQEIMYSQDF 550 560 570 580 590 600 HIQQVERRMS RLKGEINSEE KQALEAKIVE LRKSLEEKKS TCGLLETQIK KLHNDLYFIK 610 620 630 640 650 660 KAHSKNSDEK QSLMTKINEL NLFIDRSEKE LDKAKGFKQD LMIEDNLLKL EVKRTREMLH 670 680 690 700 710 720 SKAEEVLSLE KRKQQLYTAM EERTEEIKVH KTMLASQIRY VDQERENIST EFRERLSKIE 730 740 750 KLKNRYEILT VVMLPPEGEE EKTQAYYVIK VMSMS

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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. , 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.
IPI	IPI00295494. IPI00790221.
PIR	T34567.
RefSeq	NP_852091.1. NM_181426.1.
UniGene	Hs.712820. Hs.734668.
3D structure databases
ProteinModelPortal	Q9UFE4.
ModBase	Search...
Protein-protein interaction databases
STRING	9606.ENSP00000405708.
PTM databases
PhosphoSite	Q9UFE4.
Polymorphism databases
DMDM	296439421.
Proteomic databases
PaxDb	Q9UFE4.
PRIDE	Q9UFE4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000273654; ENSP00000273654; ENSG00000145075. ENST00000442201; ENSP00000405708; ENSG00000145075.
GeneID	339829.
KEGG	hsa:339829.
UCSC	uc010hxe.3. human.
Organism-specific databases
CTD	339829.
GeneCards	GC03M180320.
H-InvDB	HIX0003887.
HGNC	HGNC:25244. CCDC39.
HPA	HPA035364.
MIM	613798. gene. 613807. phenotype.
neXtProt	NX_Q9UFE4.
Orphanet	244. Primary ciliary dyskinesia.
PharmGKB	PA142672194.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG117406.
HOGENOM	HOG000060183.
HOVERGEN	HBG081041.
InParanoid	Q9UFE4.
OMA	NTEYEKR.
Gene expression databases
ArrayExpress	Q9UFE4.
Bgee	Q9UFE4.
CleanEx	HS_CCDC39.
Genevestigator	Q9UFE4.
Family and domain databases
ProtoNet	Search...
Other
GenomeRNAi	339829.
NextBio	97565.
SOURCE	Search...

Entry information

Entry name

CCD39_HUMAN

Accession

Primary (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:	May 1, 2013
This is version 75 of the entry and version 3 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.