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Protein

Coiled-coil domain-containing protein 151

Gene

CCDC151

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -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

Keywordsi

Biological processCilium 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

EuPathDBiHostDB:ENSG00000198003.11
HGNCiHGNC:28303 CCDC151
MIMi615956 gene
neXtProtiNX_A5D8V7

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

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, Kartagener syndrome, Primary ciliary dyskinesia

Organism-specific databases

DisGeNETi115948
MalaCardsiCCDC151
MIMi616037 phenotype
OpenTargetsiENSG00000198003
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA162381584

Polymorphism and mutation databases

BioMutaiCCDC151

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003215261 – 595Coiled-coil domain-containing protein 151Add BLAST595

Proteomic databases

EPDiA5D8V7
MaxQBiA5D8V7
PaxDbiA5D8V7
PRIDEiA5D8V7
ProteomicsDBi713

PTM databases

iPTMnetiA5D8V7
PhosphoSitePlusiA5D8V7

Expressioni

Gene expression databases

BgeeiENSG00000198003 Expressed in 134 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_CCDC151
ExpressionAtlasiA5D8V7 baseline and differential
GenevisibleiA5D8V7 HS

Organism-specific databases

HPAiHPA044184
HPA054626

Interactioni

Subunit structurei

Interacts with CCDC114.1 Publication

Binary interactionsi

Protein-protein interaction databases

BioGridi125463, 30 interactors
IntActiA5D8V7, 12 interactors
MINTiA5D8V7
STRINGi9606.ENSP00000348757

Structurei

3D structure databases

ProteinModelPortaliA5D8V7
SMRiA5D8V7
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Coiled coili94 – 327Sequence analysisAdd BLAST234
Coiled coili385 – 473Sequence analysisAdd BLAST89

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiENOG410IFZ0 Eukaryota
ENOG410ZD3T LUCA
GeneTreeiENSGT00900000141046
HOGENOMiHOG000007822
HOVERGENiHBG062890
InParanoidiA5D8V7
OMAiLPQYNTR
OrthoDBiEOG091G0IUD
PhylomeDBiA5D8V7
TreeFamiTF324955

Family and domain databases

InterProiView protein in InterPro
IPR033192 CCDC151
PANTHERiPTHR21694:SF24 PTHR21694:SF24, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

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

This entry has 2 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

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

Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
K7EN59K7EN59_HUMAN
Coiled-coil domain-containing prote...
CCDC151
535Annotation score:
K7EPK8K7EPK8_HUMAN
Coiled-coil domain-containing prote...
CCDC151
404Annotation score:
K7EPB4K7EPB4_HUMAN
Coiled-coil domain-containing prote...
CCDC151
115Annotation score:

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti470A → S in AAH14252 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_050743545R → P. Corresponds to variant dbSNP:rs34619515Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0569031 – 81MTSPL…KIQLL → MHPPVAPCKKLRCPPTRSFT PTRGRSK in isoform 2. 1 PublicationAdd BLAST81

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

Similar proteinsi

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
SMRiA5D8V7
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi125463, 30 interactors
IntActiA5D8V7, 12 interactors
MINTiA5D8V7
STRINGi9606.ENSP00000348757

PTM databases

iPTMnetiA5D8V7
PhosphoSitePlusiA5D8V7

Polymorphism and mutation databases

BioMutaiCCDC151

Proteomic databases

EPDiA5D8V7
MaxQBiA5D8V7
PaxDbiA5D8V7
PRIDEiA5D8V7
ProteomicsDBi713

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
DisGeNETi115948
EuPathDBiHostDB:ENSG00000198003.11
GeneCardsiCCDC151
HGNCiHGNC:28303 CCDC151
HPAiHPA044184
HPA054626
MalaCardsiCCDC151
MIMi615956 gene
616037 phenotype
neXtProtiNX_A5D8V7
OpenTargetsiENSG00000198003
Orphaneti244 Primary ciliary dyskinesia
PharmGKBiPA162381584
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFZ0 Eukaryota
ENOG410ZD3T LUCA
GeneTreeiENSGT00900000141046
HOGENOMiHOG000007822
HOVERGENiHBG062890
InParanoidiA5D8V7
OMAiLPQYNTR
OrthoDBiEOG091G0IUD
PhylomeDBiA5D8V7
TreeFamiTF324955

Miscellaneous databases

ChiTaRSiCCDC151 human
GenomeRNAii115948
PROiPR:A5D8V7
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000198003 Expressed in 134 organ(s), highest expression level in bronchial epithelial cell
CleanExiHS_CCDC151
ExpressionAtlasiA5D8V7 baseline and differential
GenevisibleiA5D8V7 HS

Family and domain databases

InterProiView protein in InterPro
IPR033192 CCDC151
PANTHERiPTHR21694:SF24 PTHR21694:SF24, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiCC151_HUMAN
AccessioniPrimary (citable) accession number: A5D8V7
Secondary accession number(s): B4DXT0, Q96CG5
Entry historyiIntegrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: June 12, 2007
Last modified: November 7, 2018
This is version 96 of the entry and version 1 of the sequence. See 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human chromosome 19
    Human chromosome 19: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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