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Protein

Coiled-coil domain-containing protein 40

Gene

CCDC40

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

Functioni

Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella (PubMed:21131974). Probably acts together with CCDC39 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly. Required for axonemal recruitment of CCDC39 (PubMed:21131974)..By similarity1 Publication

GO - Biological processi

  • axonemal dynein complex assembly Source: UniProtKB
  • determination of digestive tract left/right asymmetry Source: BHF-UCL
  • determination of liver left/right asymmetry Source: BHF-UCL
  • determination of pancreatic left/right asymmetry Source: BHF-UCL
  • epithelial cilium movement Source: BHF-UCL
  • epithelial cilium movement involved in determination of left/right asymmetry Source: UniProtKB
  • heart looping Source: BHF-UCL
  • lung development Source: BHF-UCL
  • regulation of cilium beat frequency Source: BHF-UCL
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 40Curated
Gene namesi
Name:CCDC40Imported
Synonyms:KIAA16401 Publication
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 17

Organism-specific databases

HGNCiHGNC:26090. CCDC40.

Subcellular locationi

  • Cytoplasm By similarity
  • Cell projectioncilium By similarity

  • Note: Localizes to cytoplasm and motile cilium.By similarity

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 15 (CILD15)5 Publications

The disease is caused by mutations affecting the gene represented in this entry. The disease is characterized by primary ciliary dyskinesia with inner dynein arm (IDA) defects and axonemal dizorganisation: defects in CCDC39 and CCDC40 constitute the major cause of this phenotype.

Disease descriptionA 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.

See also OMIM:613808

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

MIMi613808. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA142672195.

Polymorphism and mutation databases

BioMutaiCCDC40.
DMDMi158706471.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11421142Coiled-coil domain-containing protein 40PRO_0000305250Add
BLAST

Proteomic databases

MaxQBiQ4G0X9.
PaxDbiQ4G0X9.
PRIDEiQ4G0X9.

PTM databases

PhosphoSiteiQ4G0X9.

Expressioni

Gene expression databases

BgeeiQ4G0X9.
CleanExiHS_CCDC40.
ExpressionAtlasiQ4G0X9. baseline and differential.
GenevisibleiQ4G0X9. HS.

Organism-specific databases

HPAiHPA022974.

Interactioni

Protein-protein interaction databases

BioGridi120365. 20 interactions.
STRINGi9606.ENSP00000380679.

Structurei

3D structure databases

ProteinModelPortaliQ4G0X9.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili293 – 31927Sequence AnalysisAdd
BLAST
Coiled coili349 – 470122Sequence AnalysisAdd
BLAST
Coiled coili526 – 627102Sequence AnalysisAdd
BLAST
Coiled coili684 – 950267Sequence AnalysisAdd
BLAST
Coiled coili1005 – 105450Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the CCDC40 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG138528.
GeneTreeiENSGT00440000035688.
HOVERGENiHBG095564.
InParanoidiQ4G0X9.
OMAiTTQAEGQ.
OrthoDBiEOG747PHC.
PhylomeDBiQ4G0X9.
TreeFamiTF325559.

Family and domain databases

InterProiIPR013956. E3_ubiquit_lig_BRE1.
[Graphical view]
PfamiPF08647. BRE1. 1 hit.
[Graphical view]

Sequences (5)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q4G0X9-1) [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
MAEPGGAAGR SHPEDGSASE GEKEGNNESH MVSPPEKDDG QKGEEAVGST
60 70 80 90 100
EHPEEVTTQA EAAIEEGEVE TEGEAAVEGE EEAVSYGDAE SEEEYYYTET
110 120 130 140 150
SSPEGQISAA DTTYPYFSPP QELPGEEAYD SVSGEAGLQG FQQEATGPPE
160 170 180 190 200
SRERRVTSPE PSHGVLGPSE QMGQVTSGPA VGRLTGSTEE PQGQVLPMGV
210 220 230 240 250
QHRFRLSHGS DIESSDLEEF VSQEPVIPPG VPDAHPREGD LPVFQDQIQQ
260 270 280 290 300
PSTEEGAMAE RVESEGSDEE AEDEGSQLVV LDPDHPLMVR FQAALKNYLN
310 320 330 340 350
RQIEKLKLDL QELVVATKQS RAQRQELGVN LYEVQQHLVH LQKLLEKSHD
360 370 380 390 400
RHAMASSERR QKEEELQAAR ALYTKTCAAA NEERKKLAAL QTEMENLALH
410 420 430 440 450
LFYMQNIDQD MRDDIRVMTQ VVKKAETERI RAEIEKKKQD LYVDQLTTRA
460 470 480 490 500
QQLEEDIALF EAQYLAQAED TRILRKAVSE ACTEIDAISV EKRRIMQQWA
510 520 530 540 550
SSLVGMKHRD EAHRAVLEAL RGCQHQAKST DGEIEAYKKS IMKEEEKNEK
560 570 580 590 600
LASILNRTET EATLLQKLTT QCLTKQVALQ SQFNTYRLTL QDTEDALSQD
610 620 630 640 650
QLEQMILTEE LQAIRQAIQG ELELRRKTDA AIREKLQEHM TSNKTTKYFN
660 670 680 690 700
QLILRLQKEK TNMMTHLSKI NGDIAQTTLD ITHTSSRLDA HQKTLVELDQ
710 720 730 740 750
DVKKVNELIT NSQSEISRRT ILIERKQGLI NFLNKQLERM VSELGGEEVG
760 770 780 790 800
PLELEIKRLS KLIDEHDGKA VQAQVTWLRL QQEMVKVTQE QEEQLASLDA
810 820 830 840 850
SKKELHIMEQ KKLRVESKIE QEKKEQKEIE HHMKDLDNDL KKLNMLMNKN
860 870 880 890 900
RCSSEELEQN NRVTENEFVR SLKASERETI KMQDKLNQLS EEKATLLNQL
910 920 930 940 950
VEAEHQIMLW EKKIQLAKEM RSSVDSEIGQ TEIRAMKGEI HRMKVRLGQL
960 970 980 990 1000
LKQQEKMIRA MELAVARRET VTTQAEGQRK MDRKALTRTD FHHKQLELRR
1010 1020 1030 1040 1050
KIRDVRKATD ECTKTVLELE ETQRNVSSSL LEKQEKLSVI QADFDTLEAD
1060 1070 1080 1090 1100
LTRLGALKRQ NLSEIVALQT RLKHLQAVKE GRYVFLFRSK QSLVLERQRL
1110 1120 1130 1140
DKRLALIATI LDRVRDEYPQ FQEALHKVSQ MIANKLESPG PS
Length:1,142
Mass (Da):130,113
Last modified:October 2, 2007 - v2
Checksum:iB18A5808B0BEC212
GO
Isoform 2 (identifier: Q4G0X9-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     945-1030: VRLGQLLKQQ...ETQRNVSSSL → KYCRTTQDAH...HEHRTHTARA
     1031-1142: Missing.

Show »
Length:1,030
Mass (Da):116,800
Checksum:iA7BC295FB62A3B31
GO
Isoform 3 (identifier: Q4G0X9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-217: Missing.
     218-225: EEFVSQEP → MVSLSLPP

Show »
Length:925
Mass (Da):107,153
Checksum:iA54BBA3F9B469BDB
GO
Isoform 4 (identifier: Q4G0X9-4) [UniParc]FASTAAdd to basket

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.Curated
Show »
Length:579
Mass (Da):64,007
Checksum:i0F0FD772989FB7C8
GO
Isoform 5 (identifier: Q4G0X9-5) [UniParc]FASTAAdd to basket

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.
Show »
Length:478
Mass (Da):52,263
Checksum:i194B85FFFF78D73C
GO

Sequence cautioni

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

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti117 – 1171F → L in BAA91365 (PubMed:14702039).Curated
Sequence conflicti362 – 3621K → R in AAH35251 (PubMed:15489334).Curated
Sequence conflicti405 – 4051Q → R in BAA91365 (PubMed:14702039).Curated
Sequence conflicti405 – 4051Q → R in AAH35251 (PubMed:15489334).Curated
Sequence conflicti553 – 5531S → G in AAH35251 (PubMed:15489334).Curated
Sequence conflicti816 – 8161E → G in AAH35251 (PubMed:15489334).Curated
Isoform 3 (identifier: Q4G0X9-3)
Sequence conflicti8 – 81P → A in BAB13466 (PubMed:10997877).Curated
Isoform 4 (identifier: Q4G0X9-4)
Sequence conflicti570 – 5701A → T in BAA91365 (PubMed:14702039).Curated
Isoform 2 (identifier: Q4G0X9-2)
Sequence conflicti951 – 9511Q → R in AAH35251 (PubMed:15489334).Curated
Sequence conflicti954 – 9541H → R in AAH35251 (PubMed:15489334).Curated
Sequence conflicti964 – 9641H → R in AAH35251 (PubMed:15489334).Curated
Sequence conflicti970 – 9701K → N in AAH35251 (PubMed:15489334).Curated
Sequence conflicti987 – 9871G → R in AAH35251 (PubMed:15489334).Curated
Sequence conflicti1013 – 10131T → TT in AAH35251 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti8 – 81A → P.
Corresponds to variant rs2289530 [ dbSNP | Ensembl ].
VAR_035193

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 217217Missing in isoform 3. 1 PublicationVSP_028302Add
BLAST
Alternative sequencei218 – 2258EEFVSQEP → MVSLSLPP in isoform 3. 1 PublicationVSP_028303
Alternative sequencei440 – 47839DLYVD…LRKAV → GVGDTGAAFIPKTTQGDQVS GRGKKKPGTVVARVSPAEL in isoform 5. 1 PublicationVSP_028304Add
BLAST
Alternative sequencei479 – 1142664Missing in isoform 5. 1 PublicationVSP_028305Add
BLAST
Alternative sequencei521 – 57959RGCQH…KQVAL → SVSLERFPSQNINTARSRLS TTWHSAGILLRGSFLPGASR AFASVCYGGAAVDNRIREC in isoform 4. 1 PublicationVSP_028306Add
BLAST
Alternative sequencei580 – 1142563Missing in isoform 4. 1 PublicationVSP_028307Add
BLAST
Alternative sequencei945 – 103086VRLGQ…VSSSL → KYCRTTQDAHRHVHEQHGTH AGTCTKNTGRAQARARTTRD ARGHVHEQHGTRAGTCTNNT GRAQARARTRDARRHVHEHR THTARA in isoform 2. 1 PublicationVSP_028308Add
BLAST
Alternative sequencei1031 – 1142112Missing in isoform 2. 1 PublicationVSP_028309Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS42395.1. [Q4G0X9-1]
RefSeqiNP_001230271.1. NM_001243342.1. [Q4G0X9-2]
NP_060420.2. NM_017950.3. [Q4G0X9-1]
XP_005257549.1. XM_005257492.3. [Q4G0X9-4]
UniGeneiHs.202542.

Genome annotation databases

EnsembliENST00000269318; ENSP00000269318; ENSG00000141519. [Q4G0X9-4]
ENST00000374876; ENSP00000364010; ENSG00000141519. [Q4G0X9-5]
ENST00000374877; ENSP00000364011; ENSG00000141519. [Q4G0X9-2]
ENST00000397545; ENSP00000380679; ENSG00000141519. [Q4G0X9-1]
GeneIDi55036.
KEGGihsa:55036.
UCSCiuc002jxm.4. human. [Q4G0X9-3]
uc010dht.3. human. [Q4G0X9-1]
uc010wub.2. human. [Q4G0X9-5]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
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.
CCDSiCCDS42395.1. [Q4G0X9-1]
RefSeqiNP_001230271.1. NM_001243342.1. [Q4G0X9-2]
NP_060420.2. NM_017950.3. [Q4G0X9-1]
XP_005257549.1. XM_005257492.3. [Q4G0X9-4]
UniGeneiHs.202542.

3D structure databases

ProteinModelPortaliQ4G0X9.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi120365. 20 interactions.
STRINGi9606.ENSP00000380679.

PTM databases

PhosphoSiteiQ4G0X9.

Polymorphism and mutation databases

BioMutaiCCDC40.
DMDMi158706471.

Proteomic databases

MaxQBiQ4G0X9.
PaxDbiQ4G0X9.
PRIDEiQ4G0X9.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000269318; ENSP00000269318; ENSG00000141519. [Q4G0X9-4]
ENST00000374876; ENSP00000364010; ENSG00000141519. [Q4G0X9-5]
ENST00000374877; ENSP00000364011; ENSG00000141519. [Q4G0X9-2]
ENST00000397545; ENSP00000380679; ENSG00000141519. [Q4G0X9-1]
GeneIDi55036.
KEGGihsa:55036.
UCSCiuc002jxm.4. human. [Q4G0X9-3]
uc010dht.3. human. [Q4G0X9-1]
uc010wub.2. human. [Q4G0X9-5]

Organism-specific databases

CTDi55036.
GeneCardsiGC17P078010.
GeneReviewsiCCDC40.
H-InvDBHIX0014236.
HGNCiHGNC:26090. CCDC40.
HPAiHPA022974.
MIMi613799. gene.
613808. phenotype.
neXtProtiNX_Q4G0X9.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA142672195.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG138528.
GeneTreeiENSGT00440000035688.
HOVERGENiHBG095564.
InParanoidiQ4G0X9.
OMAiTTQAEGQ.
OrthoDBiEOG747PHC.
PhylomeDBiQ4G0X9.
TreeFamiTF325559.

Miscellaneous databases

GenomeRNAii55036.
NextBioi35537407.
PROiQ4G0X9.
SOURCEiSearch...

Gene expression databases

BgeeiQ4G0X9.
CleanExiHS_CCDC40.
ExpressionAtlasiQ4G0X9. baseline and differential.
GenevisibleiQ4G0X9. HS.

Family and domain databases

InterProiIPR013956. E3_ubiquit_lig_BRE1.
[Graphical view]
PfamiPF08647. BRE1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.
    , 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. 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. Cited for: FUNCTION, INVOLVEMENT IN CILD15.
  7. Cited for: INVOLVEMENT IN CILD15.
  8. "Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms."
    Antony D., Becker-Heck A., Zariwala M.A., Schmidts M., Onoufriadis A., Forouhan M., Wilson R., Taylor-Cox T., Dewar A., Jackson C., Goggin P., Loges N.T., Olbrich H., Jaspers M., Jorissen M., Leigh M.W., Wolf W.E., Daniels M.L.
    , Noone P.G., Ferkol T.W., Sagel S.D., Rosenfeld M., Rutman A., Dixit A., O'Callaghan C., Lucas J.S., Hogg C., Scambler P.J., Emes R.D., Chung E.M., Shoemark A., Knowles M.R., Omran H., Mitchison H.M., Al-Turki S., Anderson C., Antony D., Barroso I., Beales P., Bentham J., Bertolini S., Bhattacharya S., Calandra S., Carss K., Chatterjee K., Cirak S., Cosgrove C., Daly A., Danecek P., Durbin R., Fitzpatrick D., Floyd J., Foley R., Franklin C., Futema M., Graham C., Humphries S., Hurles M., Joyce C., Leitersdorf E., McCarthy S., Mitchison H.M., Muddyman D., Muntoni F., Neil A., O'Rahilly S., Onoufriadis A., Parker V., Payne F., Plagnol V., Raymond L., Savage D.B., Scambler P., Schmidts M., Schoenmakers N., Seed M., Semple R., Serra E., Stalker J., Van Bockxmeer F., van Kogelenberg M., Vijayarangakannan P., Walter K., Whittall R., Williamson K.
    Hum. Mutat. 34:462-472(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CILD15.
  9. "Identification of the first deletion-insertion involving the complete structure of GAA gene and part of CCDC40 gene mediated by an Alu element."
    Aminoso C., Vallespin E., Fernandez L., Arrabal L.F., Desviat L.R., Perez B., Santos F., Solera J.
    Gene 519:169-172(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CILD15.
  10. "Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia."
    Raidt J., Wallmeier J., Hjeij R., Onnebrink J.G., Pennekamp P., Loges N.T., Olbrich H., Haeffner K., Dougherty G.W., Omran H., Werner C.
    Eur. Respir. J. 44:1579-1588(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CILD15.

Entry informationi

Entry nameiCCD40_HUMAN
AccessioniPrimary (citable) accession number: Q4G0X9
Secondary accession number(s): A8MTD2
, C9JTI9, C9JTJ0, C9JXW1, J3QSY2, Q6PE47, Q9HCD2, Q9NWL5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 2, 2007
Last sequence update: October 2, 2007
Last modified: June 24, 2015
This is version 90 of the entry and version 2 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 17
    Human chromosome 17: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.