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Q4G0X9 (CCD40_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 82. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | 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 40
Gene names
Name:CCDC40
Synonyms:KIAA1640
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length1142 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. Required for axonemal recruitment of CCDC39. Ref.6

Subcellular location

Cytoplasm By similarity. Cell projectioncilium By similarity. Note: Localizes to cytoplasm and motile cilium By similarity.

Involvement in disease

Ciliary dyskinesia, primary, 15 (CILD15) [MIM:613808]: 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.6

Sequence similarities

Belongs to the CCDC40 family.

Sequence caution

The sequence BAB13466.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.

Alternative products

This entry describes 5 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q4G0X9-1)

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: Q4G0X9-2)

The sequence of this isoform differs from the canonical sequence as follows:
     945-945: V → KYCRTTRDAR...HEHRTHTARA
     946-1142: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q4G0X9-3)

The sequence of this isoform differs from the canonical sequence as follows:
     1-217: Missing.
     218-225: EEFVSQEP → MVSLSLPP
Isoform 4 (identifier: Q4G0X9-4)

The sequence of this isoform differs from the canonical sequence as follows:
     521-579: RGCQHQAKST...TQCLTKQVAL → SVSLERFPSQ...AAVDNRIREC
     580-1142: Missing.
Note: No experimental confirmation available.
Isoform 5 (identifier: Q4G0X9-5)

The sequence of this isoform differs from the canonical sequence as follows:
     440-478: DLYVDQLTTR...EDTRILRKAV → GVGDTGAAFI...VVARVSPAEL
     479-1142: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 11421142Coiled-coil domain-containing protein 40
PRO_0000305250

Regions

Coiled coil293 – 31927 Potential
Coiled coil349 – 470122 Potential
Coiled coil526 – 627102 Potential
Coiled coil684 – 950267 Potential
Coiled coil1005 – 105450 Potential

Natural variations

Alternative sequence1 – 217217Missing in isoform 3.
VSP_028302
Alternative sequence218 – 2258EEFVSQEP → MVSLSLPP in isoform 3.
VSP_028303
Alternative sequence440 – 47839DLYVD…LRKAV → GVGDTGAAFIPKTTQGDQVS GRGKKKPGTVVARVSPAEL in isoform 5.
VSP_028304
Alternative sequence479 – 1142664Missing in isoform 5.
VSP_028305
Alternative sequence521 – 57959RGCQH…KQVAL → SVSLERFPSQNINTARSRLS TTWHSAGILLRGSFLPGASR AFASVCYGGAAVDNRIREC in isoform 4.
VSP_028306
Alternative sequence580 – 1142563Missing in isoform 4.
VSP_028307
Alternative sequence9451V → KYCRTTRDARRHVHEQHGTR AGTCTNNTGRAQARARTTRD ARRHVHEQHGTRAGTCTNNT GRAQARARTTRDARRHVHEH RTHTARA in isoform 2.
VSP_028308
Alternative sequence946 – 1142197Missing in isoform 2.
VSP_028309
Natural variant81A → P.
Corresponds to variant rs2289530 [ dbSNP | Ensembl ].
VAR_035193

Experimental info

Sequence conflict1171F → L in BAA91365. Ref.2
Sequence conflict3621K → R in AAH35251. Ref.4
Sequence conflict4051Q → R in BAA91365. Ref.2
Sequence conflict5531S → G in AAH35251. Ref.4
Sequence conflict8161E → G in AAH35251. Ref.4
Isoform 3:
Sequence conflict81P → A in BAB13466. Ref.1
Isoform 4:
Sequence conflict5701A → T in BAA91365. Ref.2

Sequences

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

Last modified October 2, 2007. Version 2.
Checksum: B18A5808B0BEC212

FASTA1,142130,113
        10         20         30         40         50         60 
MAEPGGAAGR SHPEDGSASE GEKEGNNESH MVSPPEKDDG QKGEEAVGST EHPEEVTTQA 

        70         80         90        100        110        120 
EAAIEEGEVE TEGEAAVEGE EEAVSYGDAE SEEEYYYTET SSPEGQISAA DTTYPYFSPP 

       130        140        150        160        170        180 
QELPGEEAYD SVSGEAGLQG FQQEATGPPE SRERRVTSPE PSHGVLGPSE QMGQVTSGPA 

       190        200        210        220        230        240 
VGRLTGSTEE PQGQVLPMGV QHRFRLSHGS DIESSDLEEF VSQEPVIPPG VPDAHPREGD 

       250        260        270        280        290        300 
LPVFQDQIQQ PSTEEGAMAE RVESEGSDEE AEDEGSQLVV LDPDHPLMVR FQAALKNYLN 

       310        320        330        340        350        360 
RQIEKLKLDL QELVVATKQS RAQRQELGVN LYEVQQHLVH LQKLLEKSHD RHAMASSERR 

       370        380        390        400        410        420 
QKEEELQAAR ALYTKTCAAA NEERKKLAAL QTEMENLALH LFYMQNIDQD MRDDIRVMTQ 

       430        440        450        460        470        480 
VVKKAETERI RAEIEKKKQD LYVDQLTTRA QQLEEDIALF EAQYLAQAED TRILRKAVSE 

       490        500        510        520        530        540 
ACTEIDAISV EKRRIMQQWA SSLVGMKHRD EAHRAVLEAL RGCQHQAKST DGEIEAYKKS 

       550        560        570        580        590        600 
IMKEEEKNEK LASILNRTET EATLLQKLTT QCLTKQVALQ SQFNTYRLTL QDTEDALSQD 

       610        620        630        640        650        660 
QLEQMILTEE LQAIRQAIQG ELELRRKTDA AIREKLQEHM TSNKTTKYFN QLILRLQKEK 

       670        680        690        700        710        720 
TNMMTHLSKI NGDIAQTTLD ITHTSSRLDA HQKTLVELDQ DVKKVNELIT NSQSEISRRT 

       730        740        750        760        770        780 
ILIERKQGLI NFLNKQLERM VSELGGEEVG PLELEIKRLS KLIDEHDGKA VQAQVTWLRL 

       790        800        810        820        830        840 
QQEMVKVTQE QEEQLASLDA SKKELHIMEQ KKLRVESKIE QEKKEQKEIE HHMKDLDNDL 

       850        860        870        880        890        900 
KKLNMLMNKN RCSSEELEQN NRVTENEFVR SLKASERETI KMQDKLNQLS EEKATLLNQL 

       910        920        930        940        950        960 
VEAEHQIMLW EKKIQLAKEM RSSVDSEIGQ TEIRAMKGEI HRMKVRLGQL LKQQEKMIRA 

       970        980        990       1000       1010       1020 
MELAVARRET VTTQAEGQRK MDRKALTRTD FHHKQLELRR KIRDVRKATD ECTKTVLELE 

      1030       1040       1050       1060       1070       1080 
ETQRNVSSSL LEKQEKLSVI QADFDTLEAD LTRLGALKRQ NLSEIVALQT RLKHLQAVKE 

      1090       1100       1110       1120       1130       1140 
GRYVFLFRSK QSLVLERQRL DKRLALIATI LDRVRDEYPQ FQEALHKVSQ MIANKLESPG 


PS 

« Hide

Isoform 2 [UniParc].

Checksum: 35C3D9DD4E101603
Show »

FASTA1,031117,053
Isoform 3 [UniParc].

Checksum: A54BBA3F9B469BDB
Show »

FASTA925107,153
Isoform 4 [UniParc].

Checksum: 0F0FD772989FB7C8
Show »

FASTA57964,007
Isoform 5 [UniParc].

Checksum: 194B85FFFF78D73C
Show »

FASTA47852,263

References

« Hide 'large scale' references
[1]"Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
Nagase T., Kikuno R., Nakayama M., Hirosawa M., Ohara O.
DNA Res. 7:273-281(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Brain.
[2]"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 4).
Tissue: Hepatoma.
[3]"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L. expand/collapse author list , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 5).
Tissue: Prostate and Testis.
[6]"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: FUNCTION, INVOLVEMENT IN CILD15.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AB046860 mRNA. Translation: BAB13466.1. Different initiation.
AK000760 mRNA. Translation: BAA91365.1.
AC087741 Genomic DNA. No translation available.
AC116025 Genomic DNA. No translation available.
CH471099 Genomic DNA. Translation: EAW89578.1.
CH471099 Genomic DNA. Translation: EAW89579.1.
BC035251 mRNA. Translation: AAH35251.1.
BC058288 mRNA. Translation: AAH58288.1.
CCDSCCDS42395.1. [Q4G0X9-1]
RefSeqNP_001230271.1. NM_001243342.1.
NP_060420.2. NM_017950.3. [Q4G0X9-1]
XP_005257549.1. XM_005257492.2. [Q4G0X9-4]
UniGeneHs.202542.

3D structure databases

ProteinModelPortalQ4G0X9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid120365. 1 interaction.
STRING9606.ENSP00000380679.

PTM databases

PhosphoSiteQ4G0X9.

Polymorphism databases

DMDM158706471.

Proteomic databases

MaxQBQ4G0X9.
PaxDbQ4G0X9.
PRIDEQ4G0X9.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000269318; ENSP00000269318; ENSG00000141519. [Q4G0X9-4]
ENST00000374876; ENSP00000364010; ENSG00000141519. [Q4G0X9-5]
ENST00000397545; ENSP00000380679; ENSG00000141519. [Q4G0X9-1]
GeneID55036.
KEGGhsa:55036.
UCSCuc002jxm.4. human. [Q4G0X9-3]
uc010dht.3. human. [Q4G0X9-1]
uc010wub.2. human. [Q4G0X9-5]

Organism-specific databases

CTD55036.
GeneCardsGC17P078010.
GeneReviewsCCDC40.
H-InvDBHIX0014236.
HGNCHGNC:26090. CCDC40.
HPAHPA022974.
MIM613799. gene.
613808. phenotype.
neXtProtNX_Q4G0X9.
Orphanet244. Primary ciliary dyskinesia.
PharmGKBPA142672195.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG138528.
HOVERGENHBG095564.
InParanoidQ4G0X9.
OMATTQAEGQ.
PhylomeDBQ4G0X9.
TreeFamTF325559.

Gene expression databases

ArrayExpressQ4G0X9.
BgeeQ4G0X9.
CleanExHS_CCDC40.
GenevestigatorQ4G0X9.

Family and domain databases

InterProIPR013956. E3_ubiquit_lig_BRE1.
[Graphical view]
PfamPF08647. BRE1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GenomeRNAi55036.
NextBio58467.
PROQ4G0X9.
SOURCESearch...

Entry information

Entry nameCCD40_HUMAN
AccessionPrimary (citable) accession number: Q4G0X9
Secondary accession number(s): A8MTD2 expand/collapse secondary AC list , C9JTI9, C9JTJ0, C9JXW1, Q6PE47, Q9HCD2, Q9NWL5
Entry history
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 2, 2007
Last modified: July 9, 2014
This is version 82 of the entry and version 2 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 polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 17

Human chromosome 17: entries, gene names and cross-references to MIM