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Protein

Coiled-coil domain-containing protein 151

Gene

CCDC151

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

Functioni

Ciliary protein involved in outer dynein arm assembly and required for motile cilia function.By similarity

GO - Biological processi

  • cilium movement Source: UniProtKB
  • determination of left/right symmetry Source: SYSCILIA_CCNET
  • outer dynein arm assembly Source: SYSCILIA_CCNET
  • regulation of cilium assembly Source: UniProtKB
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation

Names & Taxonomyi

Protein namesi
Recommended name:
Coiled-coil domain-containing protein 151
Gene namesi
Name:CCDC151
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:28303. CCDC151.

Subcellular locationi

GO - Cellular componenti

  • axoneme Source: UniProtKB
  • centriole Source: UniProtKB
  • ciliary basal body Source: UniProtKB
  • cilium Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Cell projection, Cytoplasm, Cytoskeleton

Pathology & Biotechi

Involvement in diseasei

Ciliary dyskinesia, primary, 30 (CILD30)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.
See also OMIM:616037

Keywords - Diseasei

Ciliopathy, Primary ciliary dyskinesia

Organism-specific databases

MalaCardsiCCDC151.
MIMi616037. phenotype.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA162381584.

Polymorphism and mutation databases

BioMutaiCCDC151.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 595595Coiled-coil domain-containing protein 151PRO_0000321526Add
BLAST

Proteomic databases

EPDiA5D8V7.
MaxQBiA5D8V7.
PaxDbiA5D8V7.
PRIDEiA5D8V7.

PTM databases

iPTMnetiA5D8V7.
PhosphoSiteiA5D8V7.

Expressioni

Gene expression databases

BgeeiA5D8V7.
CleanExiHS_CCDC151.
ExpressionAtlasiA5D8V7. baseline and differential.
GenevisibleiA5D8V7. HS.

Organism-specific databases

HPAiHPA044184.

Interactioni

Subunit structurei

Interacts with CCDC114.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
CCDC114Q96M633EBI-8466445,EBI-10173858
DKFZp451B226Q5HYH73EBI-8466445,EBI-10173842
KDM1AO603412EBI-8466445,EBI-710124
NECAB2H3BTW23EBI-8466445,EBI-10172876
SUV39H1O434632EBI-8466445,EBI-349968
TFIP11Q9UBB93EBI-10173824,EBI-1105213

Protein-protein interaction databases

BioGridi125463. 30 interactions.
IntActiA5D8V7. 7 interactions.
MINTiMINT-8417643.
STRINGi9606.ENSP00000348757.

Structurei

3D structure databases

ProteinModelPortaliA5D8V7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili94 – 327234Sequence analysisAdd
BLAST
Coiled coili385 – 47389Sequence analysisAdd
BLAST

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IFZ0. Eukaryota.
ENOG410ZD3T. LUCA.
GeneTreeiENSGT00730000111243.
HOGENOMiHOG000007822.
HOVERGENiHBG062890.
InParanoidiA5D8V7.
OMAiESTQWNI.
OrthoDBiEOG76X5ZP.
PhylomeDBiA5D8V7.
TreeFamiTF324955.

Family and domain databases

InterProiIPR033192. CCDC151.
[Graphical view]
PANTHERiPTHR21694:SF24. PTHR21694:SF24. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: A5D8V7-1) [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
MTSPLCRAAS ANALPPQDQA STPSSRVKGR EASGKPSHLR GKGTAQAWTP
60 70 80 90 100
GRSKGGSFHR GAGKPSVHSQ VAELHKKIQL LEGDRKAFFE SSQWNIKKNQ
110 120 130 140 150
ETISQLRKET KALELKLLDL LKGDEKVVQA VIREWKWEKP YLKNRTGQAL
160 170 180 190 200
EHLDHRLREK VKQQNALRHQ VVLRQRRLEE LQLQHSLRLL EMAEAQNRHT
210 220 230 240 250
EVAKTMRNLE NRLEKAQMKA QEAEHITSVY LQLKAYLMDE SLNLENRLDS
260 270 280 290 300
MEAEVVRTKH ELEALHVVNQ EALNARDIAK NQLQYLEETL VRERKKRERY
310 320 330 340 350
ISECKKRAEE KKLENERMER KTHREHLLLQ SDDTIQDSLH AKEEELRQRW
360 370 380 390 400
SMYQMEVIFG KVKDATGTDE THSLVRRFLA QGDTFAQLET LKSENEQTLV
410 420 430 440 450
RLKQEKQQLQ RELEDLKYSG EATLVSQQKL QAEAQERLKK EERRHAEAKD
460 470 480 490 500
QLERALRAMQ VAKDSLEHLA SKLIHITVED GRFAGKELDP QADNYVPNLL
510 520 530 540 550
GLVEEKLLKL QAQLQGHDVQ EMLCHIANRE FLASLEGRLP EYNTRIALPL
560 570 580 590
ATSKDKFFDE ESEEEDNEVV TRASLKIRSQ KLIESHKKHR RSRRS
Length:595
Mass (Da):69,140
Last modified:June 12, 2007 - v1
Checksum:iE0DA463B2F340D0E
GO
Isoform 2 (identifier: A5D8V7-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-81: MTSPLCRAAS...AELHKKIQLL → MHPPVAPCKKLRCPPTRSFTPTRGRSK

Note: No experimental confirmation available.
Show »
Length:541
Mass (Da):63,737
Checksum:i74E3B92EE5F5E97F
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti470 – 4701A → S in AAH14252 (PubMed:15489334).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti545 – 5451R → P.
Corresponds to variant rs34619515 [ dbSNP | Ensembl ].
VAR_050743

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 8181MTSPL…KIQLL → MHPPVAPCKKLRCPPTRSFT PTRGRSK in isoform 2. 1 PublicationVSP_056903Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK302113 mRNA. Translation: BAG63492.1.
AC024575 Genomic DNA. No translation available.
CH471106 Genomic DNA. Translation: EAW84213.1.
BC014252 mRNA. Translation: AAH14252.2.
BC141828 mRNA. Translation: AAI41829.1.
BC142637 mRNA. Translation: AAI42638.1.
CCDSiCCDS42501.1. [A5D8V7-1]
RefSeqiNP_001289382.1. NM_001302453.1. [A5D8V7-2]
NP_659482.3. NM_145045.4. [A5D8V7-1]
UniGeneiHs.124010.

Genome annotation databases

EnsembliENST00000356392; ENSP00000348757; ENSG00000198003. [A5D8V7-1]
GeneIDi115948.
KEGGihsa:115948.
UCSCiuc002mrs.5. human. [A5D8V7-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AK302113 mRNA. Translation: BAG63492.1.
AC024575 Genomic DNA. No translation available.
CH471106 Genomic DNA. Translation: EAW84213.1.
BC014252 mRNA. Translation: AAH14252.2.
BC141828 mRNA. Translation: AAI41829.1.
BC142637 mRNA. Translation: AAI42638.1.
CCDSiCCDS42501.1. [A5D8V7-1]
RefSeqiNP_001289382.1. NM_001302453.1. [A5D8V7-2]
NP_659482.3. NM_145045.4. [A5D8V7-1]
UniGeneiHs.124010.

3D structure databases

ProteinModelPortaliA5D8V7.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125463. 30 interactions.
IntActiA5D8V7. 7 interactions.
MINTiMINT-8417643.
STRINGi9606.ENSP00000348757.

PTM databases

iPTMnetiA5D8V7.
PhosphoSiteiA5D8V7.

Polymorphism and mutation databases

BioMutaiCCDC151.

Proteomic databases

EPDiA5D8V7.
MaxQBiA5D8V7.
PaxDbiA5D8V7.
PRIDEiA5D8V7.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000356392; ENSP00000348757; ENSG00000198003. [A5D8V7-1]
GeneIDi115948.
KEGGihsa:115948.
UCSCiuc002mrs.5. human. [A5D8V7-1]

Organism-specific databases

CTDi115948.
GeneCardsiCCDC151.
HGNCiHGNC:28303. CCDC151.
HPAiHPA044184.
MalaCardsiCCDC151.
MIMi615956. gene.
616037. phenotype.
neXtProtiNX_A5D8V7.
Orphaneti244. Primary ciliary dyskinesia.
PharmGKBiPA162381584.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFZ0. Eukaryota.
ENOG410ZD3T. LUCA.
GeneTreeiENSGT00730000111243.
HOGENOMiHOG000007822.
HOVERGENiHBG062890.
InParanoidiA5D8V7.
OMAiESTQWNI.
OrthoDBiEOG76X5ZP.
PhylomeDBiA5D8V7.
TreeFamiTF324955.

Miscellaneous databases

ChiTaRSiCCDC151. human.
GenomeRNAii115948.
PROiA5D8V7.
SOURCEiSearch...

Gene expression databases

BgeeiA5D8V7.
CleanExiHS_CCDC151.
ExpressionAtlasiA5D8V7. baseline and differential.
GenevisibleiA5D8V7. HS.

Family and domain databases

InterProiIPR033192. CCDC151.
[Graphical view]
PANTHERiPTHR21694:SF24. PTHR21694:SF24. 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 2).
    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. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "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] (ISOFORM 1).
    Tissue: Eye.
  5. Cited for: INVOLVEMENT IN CILD30, INTERACTION WITH CCDC114, SUBCELLULAR LOCATION.
  6. "Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia."
    Alsaadi M.M., Erzurumluoglu A.M., Rodriguez S., Guthrie P.A., Gaunt T.R., Omar H.Z., Mubarak M., Alharbi K.K., Al-Rikabi A.C., Day I.N.
    Hum. Mutat. 35:1446-1448(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN CILD30.

Entry informationi

Entry nameiCC151_HUMAN
AccessioniPrimary (citable) accession number: A5D8V7
Secondary accession number(s): B4DXT0, Q96CG5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: June 12, 2007
Last modified: June 8, 2016
This is version 76 of the entry and version 1 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 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

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.