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Q4G0X9

- CCD40_HUMAN

UniProt

Q4G0X9 - CCD40_HUMAN

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Protein
Coiled-coil domain-containing protein 40
Gene
CCDC40, KIAA1640
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. Required for axonemal recruitment of CCDC39.1 Publication

GO - Biological processi

  1. axonemal dynein complex assembly Source: UniProtKB
  2. determination of digestive tract left/right asymmetry Source: BHF-UCL
  3. determination of liver left/right asymmetry Source: BHF-UCL
  4. determination of pancreatic left/right asymmetry Source: BHF-UCL
  5. epithelial cilium movement 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
  9. regulation of cilium beat frequency Source: BHF-UCL
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 40
Gene namesi
Name:CCDC40
Synonyms:KIAA1640
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: 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

  1. cilium Source: UniProtKB
  2. cytoplasm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasm

Pathology & Biotechi

Involvement in diseasei

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.1 Publication

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

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

PTM / Processingi

Molecule processing

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

Proteomic databases

MaxQBiQ4G0X9.
PaxDbiQ4G0X9.
PRIDEiQ4G0X9.

PTM databases

PhosphoSiteiQ4G0X9.

Expressioni

Gene expression databases

ArrayExpressiQ4G0X9.
BgeeiQ4G0X9.
CleanExiHS_CCDC40.
GenevestigatoriQ4G0X9.

Organism-specific databases

HPAiHPA022974.

Interactioni

Protein-protein interaction databases

BioGridi120365. 1 interaction.
STRINGi9606.ENSP00000380679.

Structurei

3D structure databases

ProteinModelPortaliQ4G0X9.

Family & Domainsi

Coiled coil

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

Sequence similaritiesi

Belongs to the CCDC40 family.

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG138528.
HOVERGENiHBG095564.
InParanoidiQ4G0X9.
OMAiTTQAEGQ.
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. Align

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

MAEPGGAAGR SHPEDGSASE GEKEGNNESH MVSPPEKDDG QKGEEAVGST     50
EHPEEVTTQA EAAIEEGEVE TEGEAAVEGE EEAVSYGDAE SEEEYYYTET 100
SSPEGQISAA DTTYPYFSPP QELPGEEAYD SVSGEAGLQG FQQEATGPPE 150
SRERRVTSPE PSHGVLGPSE QMGQVTSGPA VGRLTGSTEE PQGQVLPMGV 200
QHRFRLSHGS DIESSDLEEF VSQEPVIPPG VPDAHPREGD LPVFQDQIQQ 250
PSTEEGAMAE RVESEGSDEE AEDEGSQLVV LDPDHPLMVR FQAALKNYLN 300
RQIEKLKLDL QELVVATKQS RAQRQELGVN LYEVQQHLVH LQKLLEKSHD 350
RHAMASSERR QKEEELQAAR ALYTKTCAAA NEERKKLAAL QTEMENLALH 400
LFYMQNIDQD MRDDIRVMTQ VVKKAETERI RAEIEKKKQD LYVDQLTTRA 450
QQLEEDIALF EAQYLAQAED TRILRKAVSE ACTEIDAISV EKRRIMQQWA 500
SSLVGMKHRD EAHRAVLEAL RGCQHQAKST DGEIEAYKKS IMKEEEKNEK 550
LASILNRTET EATLLQKLTT QCLTKQVALQ SQFNTYRLTL QDTEDALSQD 600
QLEQMILTEE LQAIRQAIQG ELELRRKTDA AIREKLQEHM TSNKTTKYFN 650
QLILRLQKEK TNMMTHLSKI NGDIAQTTLD ITHTSSRLDA HQKTLVELDQ 700
DVKKVNELIT NSQSEISRRT ILIERKQGLI NFLNKQLERM VSELGGEEVG 750
PLELEIKRLS KLIDEHDGKA VQAQVTWLRL QQEMVKVTQE QEEQLASLDA 800
SKKELHIMEQ KKLRVESKIE QEKKEQKEIE HHMKDLDNDL KKLNMLMNKN 850
RCSSEELEQN NRVTENEFVR SLKASERETI KMQDKLNQLS EEKATLLNQL 900
VEAEHQIMLW EKKIQLAKEM RSSVDSEIGQ TEIRAMKGEI HRMKVRLGQL 950
LKQQEKMIRA MELAVARRET VTTQAEGQRK MDRKALTRTD FHHKQLELRR 1000
KIRDVRKATD ECTKTVLELE ETQRNVSSSL LEKQEKLSVI QADFDTLEAD 1050
LTRLGALKRQ NLSEIVALQT RLKHLQAVKE GRYVFLFRSK QSLVLERQRL 1100
DKRLALIATI LDRVRDEYPQ FQEALHKVSQ MIANKLESPG PS 1142
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:
     945-945: V → KYCRTTRDAR...HEHRTHTARA
     946-1142: Missing.

Note: No experimental confirmation available.

Show »
Length:1,031
Mass (Da):117,053
Checksum:i35C3D9DD4E101603
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.

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.

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.
VSP_028302Add
BLAST
Alternative sequencei218 – 2258EEFVSQEP → MVSLSLPP in isoform 3.
VSP_028303
Alternative sequencei440 – 47839DLYVD…LRKAV → GVGDTGAAFIPKTTQGDQVS GRGKKKPGTVVARVSPAEL in isoform 5.
VSP_028304Add
BLAST
Alternative sequencei479 – 1142664Missing in isoform 5.
VSP_028305Add
BLAST
Alternative sequencei521 – 57959RGCQH…KQVAL → SVSLERFPSQNINTARSRLS TTWHSAGILLRGSFLPGASR AFASVCYGGAAVDNRIREC in isoform 4.
VSP_028306Add
BLAST
Alternative sequencei580 – 1142563Missing in isoform 4.
VSP_028307Add
BLAST
Alternative sequencei945 – 9451V → KYCRTTRDARRHVHEQHGTR AGTCTNNTGRAQARARTTRD ARRHVHEQHGTRAGTCTNNT GRAQARARTTRDARRHVHEH RTHTARA in isoform 2.
VSP_028308
Alternative sequencei946 – 1142197Missing in isoform 2.
VSP_028309Add
BLAST

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti117 – 1171F → L in BAA91365. 1 Publication
Sequence conflicti362 – 3621K → R in AAH35251. 1 Publication
Sequence conflicti405 – 4051Q → R in BAA91365. 1 Publication
Sequence conflicti553 – 5531S → G in AAH35251. 1 Publication
Sequence conflicti816 – 8161E → G in AAH35251. 1 Publication
Isoform 3 (identifier: Q4G0X9-3)
Sequence conflicti8 – 81P → A in BAB13466. 1 Publication
Isoform 4 (identifier: Q4G0X9-4)
Sequence conflicti570 – 5701A → T in BAA91365. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
NP_060420.2. NM_017950.3. [Q4G0X9-1]
XP_005257549.1. XM_005257492.2. [Q4G0X9-4]
UniGeneiHs.202542.

Genome annotation databases

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

Polymorphism databases

DMDMi158706471.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS42395.1. [Q4G0X9-1 ]
RefSeqi NP_001230271.1. NM_001243342.1.
NP_060420.2. NM_017950.3. [Q4G0X9-1 ]
XP_005257549.1. XM_005257492.2. [Q4G0X9-4 ]
UniGenei Hs.202542.

3D structure databases

ProteinModelPortali Q4G0X9.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120365. 1 interaction.
STRINGi 9606.ENSP00000380679.

PTM databases

PhosphoSitei Q4G0X9.

Polymorphism databases

DMDMi 158706471.

Proteomic databases

MaxQBi Q4G0X9.
PaxDbi Q4G0X9.
PRIDEi Q4G0X9.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000269318 ; ENSP00000269318 ; ENSG00000141519 . [Q4G0X9-4 ]
ENST00000374876 ; ENSP00000364010 ; ENSG00000141519 . [Q4G0X9-5 ]
ENST00000397545 ; ENSP00000380679 ; ENSG00000141519 . [Q4G0X9-1 ]
GeneIDi 55036.
KEGGi hsa:55036.
UCSCi uc002jxm.4. human. [Q4G0X9-3 ]
uc010dht.3. human. [Q4G0X9-1 ]
uc010wub.2. human. [Q4G0X9-5 ]

Organism-specific databases

CTDi 55036.
GeneCardsi GC17P078010.
GeneReviewsi CCDC40.
H-InvDB HIX0014236.
HGNCi HGNC:26090. CCDC40.
HPAi HPA022974.
MIMi 613799. gene.
613808. phenotype.
neXtProti NX_Q4G0X9.
Orphaneti 244. Primary ciliary dyskinesia.
PharmGKBi PA142672195.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG138528.
HOVERGENi HBG095564.
InParanoidi Q4G0X9.
OMAi TTQAEGQ.
PhylomeDBi Q4G0X9.
TreeFami TF325559.

Miscellaneous databases

GenomeRNAii 55036.
NextBioi 58467.
PROi Q4G0X9.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q4G0X9.
Bgeei Q4G0X9.
CleanExi HS_CCDC40.
Genevestigatori Q4G0X9.

Family and domain databases

InterProi IPR013956. E3_ubiquit_lig_BRE1.
[Graphical view ]
Pfami PF08647. BRE1. 1 hit.
[Graphical view ]
ProtoNeti Search...

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.

Entry informationi

Entry nameiCCD40_HUMAN
AccessioniPrimary (citable) accession number: Q4G0X9
Secondary accession number(s): A8MTD2
, C9JTI9, C9JTJ0, C9JXW1, Q6PE47, Q9HCD2, Q9NWL5
Entry historyi
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 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

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