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Protein

Coiled-coil domain-containing protein 114

Gene

CCDC114

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

Functioni

Probable component of the outer dynein arm complex required along the entire axoneme for tethering of outer dynein arms.2 Publications

GO - Biological processi

  • cilium movement Source: SYSCILIA_CCNET
  • outer dynein arm assembly Source: UniProtKB
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 114
Gene namesi
Name:CCDC114
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:26560. CCDC114.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: SYSCILIA_CCNET
  • cilium Source: UniProtKB
  • outer dynein arm Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cilium

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 20 (CILD20)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
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. Patients may 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. Unlike other forms of CILD characterized by reduced fertility, patients with CILD20 do not appear to be infertile.
See also OMIM:615067

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

MalaCardsiCCDC114.
MIMi615067. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA145149267.

Polymorphism and mutation databases

BioMutaiCCDC114.
DMDMi221222533.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 670670Coiled-coil domain-containing protein 114PRO_0000288807Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei517 – 5171PhosphoserineBy similarity

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ96M63.
PRIDEiQ96M63.

PTM databases

PhosphoSiteiQ96M63.

Expressioni

Gene expression databases

BgeeiQ96M63.
CleanExiHS_CCDC114.
GenevisibleiQ96M63. HS.

Organism-specific databases

HPAiHPA042524.

Interactioni

Subunit structurei

Interacts with CCDC151.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
C1orf216Q8TAB53EBI-10173858,EBI-747505
CCDC151A5D8V73EBI-10173858,EBI-8466445
CCDC151A5D8V7-23EBI-10173858,EBI-10173824
HAUS1Q96CS23EBI-10173858,EBI-2514791
HGSO149643EBI-10173858,EBI-740220
KLC1Q078663EBI-10173858,EBI-721019
LNX1Q8TBB13EBI-10173858,EBI-739832
TPM3Q5VU623EBI-10173858,EBI-10184033
TXN2Q997573EBI-10173858,EBI-2932492

Protein-protein interaction databases

BioGridi125015. 9 interactions.
IntActiQ96M63. 8 interactions.
STRINGi9606.ENSP00000318429.

Structurei

3D structure databases

ProteinModelPortaliQ96M63.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili9 – 155147Sequence analysisAdd
BLAST
Coiled coili183 – 22442Sequence analysisAdd
BLAST
Coiled coili302 – 38180Sequence analysisAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi590 – 66879Ser-richAdd
BLAST

Sequence similaritiesi

Belongs to the ODA1/DCC2 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IFTU. Eukaryota.
ENOG410Y4NT. LUCA.
GeneTreeiENSGT00530000063852.
HOGENOMiHOG000111380.
HOVERGENiHBG107596.
InParanoidiQ96M63.
OMAiEAKDDYP.
OrthoDBiEOG7XWPP0.
PhylomeDBiQ96M63.
TreeFamiTF323742.

Family and domain databases

InterProiIPR029652. ODA1/DCC2_fam.
[Graphical view]
PANTHERiPTHR21694:SF18. PTHR21694:SF18. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96M63-1) [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
MEGERRAYSK EVHQRINKQL EEIRRLEEVR GDLQVQISAA QNQVKRLRDS
60 70 80 90 100
QRLENMDRLL KGRAQVQAEI EELQEQTRAL DKQIQEWETR IFTHSKNVRS
110 120 130 140 150
PGFILDQKVK IRRRIRILEN QLDRVTCHFD NQLVRNAALR EELDLLRIDR
160 170 180 190 200
NRYLNVDRKL KKEIHHLHHL VSTLILSSTS AYAVREEAKA KMGLLRERAE
210 220 230 240 250
KEEAQSEMEA QVLQRQILHL EQLHHFLKLK NNDRQPDPDV LEKREKQAGE
260 270 280 290 300
VAEGVWKTSQ ERLVLCYEDA LNKLSQLMGE SDPDLLVQKY LEIEERNFAE
310 320 330 340 350
FNFINEQNLE LEHVQEEIKE MQEALVSARA SKDDQHLLQE QQQKVLQQRM
360 370 380 390 400
DKVHSEAERL EARFQDVRGQ LEKLKADIQL LFTKAHCDSS MIDDLLGVKT
410 420 430 440 450
SMGDRDMGLF LSLIEKRLVE LLTVQAFLHA QSFTSLADAA LLVLGQSLED
460 470 480 490 500
LPKKMAPLQP PDTLEDPPGF EASDDYPMSR EELLSQVEKL VELQEQAEAQ
510 520 530 540 550
RQKDLAAAAA KLDGTLSVDL ASTQRAGSST VLVPTRHPHA IPGSILSHKT
560 570 580 590 600
SRDRGSLGHV TFGGLSSSTG HLPSHITHGD PNTGHVTFGS TSASSGGHVT
610 620 630 640 650
FRPVSASSYL GSTGYVGSSR GGENTEGGVE SGGTASDSSG GLGSSRDHVS
660 670
STGPASSTGP GSSTSKDSRG
Length:670
Mass (Da):75,046
Last modified:January 20, 2009 - v3
Checksum:iA2CC0E7F18AB7ACF
GO
Isoform 2 (identifier: Q96M63-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-207: Missing.

Note: No experimental confirmation available.
Show »
Length:463
Mass (Da):50,376
Checksum:iB7824749A062B11D
GO
Isoform 3 (identifier: Q96M63-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     492-539: ELQEQAEAQR...TVLVPTRHPH → RVGPAGVGPG...PPPPRSWTAP
     540-670: Missing.

Note: No experimental confirmation available.
Show »
Length:539
Mass (Da):62,694
Checksum:iF83422EFA6F490ED
GO

Sequence cautioni

The sequence BAB71448.1 differs from that shown.Unlikely isoform. Aberrant splice sites.Curated
The sequence BAC87296.1 differs from that shown.Unlikely isoform. Aberrant splice sites.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti224 – 2241H → Y in BC007730 (PubMed:15057824).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti329 – 3291R → H.
Corresponds to variant rs35361179 [ dbSNP | Ensembl ].
VAR_032501
Natural varianti468 – 4681P → L.
Corresponds to variant rs35461177 [ dbSNP | Ensembl ].
VAR_032502

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 207207Missing in isoform 2. 1 PublicationVSP_036212Add
BLAST
Alternative sequencei492 – 53948ELQEQ…TRHPH → RVGPAGVGPGLSVCRGPVHL PCRWSSRSRRRRSARRTWPP PPRSWTAP in isoform 3. 1 PublicationVSP_036213Add
BLAST
Alternative sequencei540 – 670131Missing in isoform 3. 1 PublicationVSP_036214Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057357 mRNA. Translation: BAB71448.1. Sequence problems.
AK057488 mRNA. Translation: BAB71508.1.
AK128144 mRNA. Translation: BAC87296.1. Sequence problems.
AC008392 Genomic DNA. No translation available.
BC007730 mRNA. No translation available.
BC117431 mRNA. Translation: AAI17432.1.
BC117433 mRNA. Translation: AAI17434.1.
AL122083 mRNA. Translation: CAB59257.1.
CCDSiCCDS12714.2. [Q96M63-1]
PIRiT34564.
RefSeqiNP_653178.3. NM_144577.3. [Q96M63-1]
XP_011525817.1. XM_011527515.1. [Q96M63-1]
XP_011525818.1. XM_011527516.1. [Q96M63-1]
UniGeneiHs.112645.

Genome annotation databases

EnsembliENST00000315396; ENSP00000318429; ENSG00000105479. [Q96M63-1]
GeneIDi93233.
KEGGihsa:93233.
UCSCiuc002pir.3. human. [Q96M63-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK057357 mRNA. Translation: BAB71448.1. Sequence problems.
AK057488 mRNA. Translation: BAB71508.1.
AK128144 mRNA. Translation: BAC87296.1. Sequence problems.
AC008392 Genomic DNA. No translation available.
BC007730 mRNA. No translation available.
BC117431 mRNA. Translation: AAI17432.1.
BC117433 mRNA. Translation: AAI17434.1.
AL122083 mRNA. Translation: CAB59257.1.
CCDSiCCDS12714.2. [Q96M63-1]
PIRiT34564.
RefSeqiNP_653178.3. NM_144577.3. [Q96M63-1]
XP_011525817.1. XM_011527515.1. [Q96M63-1]
XP_011525818.1. XM_011527516.1. [Q96M63-1]
UniGeneiHs.112645.

3D structure databases

ProteinModelPortaliQ96M63.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125015. 9 interactions.
IntActiQ96M63. 8 interactions.
STRINGi9606.ENSP00000318429.

PTM databases

PhosphoSiteiQ96M63.

Polymorphism and mutation databases

BioMutaiCCDC114.
DMDMi221222533.

Proteomic databases

PaxDbiQ96M63.
PRIDEiQ96M63.

Protocols and materials databases

DNASUi93233.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000315396; ENSP00000318429; ENSG00000105479. [Q96M63-1]
GeneIDi93233.
KEGGihsa:93233.
UCSCiuc002pir.3. human. [Q96M63-1]

Organism-specific databases

CTDi93233.
GeneCardsiCCDC114.
H-InvDBHIX0015287.
HGNCiHGNC:26560. CCDC114.
HPAiHPA042524.
MalaCardsiCCDC114.
MIMi615038. gene.
615067. phenotype.
neXtProtiNX_Q96M63.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA145149267.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFTU. Eukaryota.
ENOG410Y4NT. LUCA.
GeneTreeiENSGT00530000063852.
HOGENOMiHOG000111380.
HOVERGENiHBG107596.
InParanoidiQ96M63.
OMAiEAKDDYP.
OrthoDBiEOG7XWPP0.
PhylomeDBiQ96M63.
TreeFamiTF323742.

Miscellaneous databases

GenomeRNAii93233.
NextBioi78036.
PROiQ96M63.
SOURCEiSearch...

Gene expression databases

BgeeiQ96M63.
CleanExiHS_CCDC114.
GenevisibleiQ96M63. HS.

Family and domain databases

InterProiIPR029652. ODA1/DCC2_fam.
[Graphical view]
PANTHERiPTHR21694:SF18. PTHR21694:SF18. 1 hit.
ProtoNetiSearch...

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: Testis.
  2. "The DNA sequence and biology of human chromosome 19."
    Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V.
    , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
    Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "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 1 AND 2).
    Tissue: Lung.
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 234-670 (ISOFORM 3).
    Tissue: Testis.
  5. Cited for: FUNCTION, SUBCELLULAR LOCATION, INVOLVEMENT IN CILD20.
  6. Cited for: FUNCTION, INVOLVEMENT IN CILD20.
  7. Cited for: INTERACTION WITH CCDC151.

Entry informationi

Entry nameiCC114_HUMAN
AccessioniPrimary (citable) accession number: Q96M63
Secondary accession number(s): Q6ZRL4, Q96M06, Q9UFG8
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: January 20, 2009
Last modified: March 16, 2016
This is version 96 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

Caution

Although the CILD20 variant corresponding to dbSNP:rs147718607 could create a Ala to Thr substitution at position 248, the variation causes an intronic insertion, resulting in a frameshift and premature truncation. It should therefore not be considered as a single amino acid polymorphism (SAP) (PubMed:23261303).1 Publication

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 19
    Human chromosome 19: 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

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 one 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.