Aliases for CCDC151 Gene
Aliases for CCDC151 Gene
External Ids for CCDC151 Gene
- HGNC: 28303
- Entrez Gene: 115948
- Ensembl: ENSG00000198003
- OMIM: 615956
- UniProtKB: A5D8V7
Previous GeneCards Identifiers for CCDC151 Gene
- GC19M011531
- GC19M011106
Summaries for CCDC151 Gene
-
This gene encodes a protein containing coiled-coil domains. The encoded protein functions in outer dynein arm assembly and is required for motile cilia function. Mutations in this gene result in primary ciliary dyskinesia. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2014]
GeneCards Summary for CCDC151 Gene
CCDC151 (Coiled-Coil Domain Containing 151) is a Protein Coding gene. Diseases associated with CCDC151 include Ciliary Dyskinesia, Primary, 30 and Primary Ciliary Dyskinesia30: Ccdc151-Related Primary Ciliary Dyskinesia.
UniProtKB/Swiss-Prot for CCDC151 Gene
-
Ciliary protein involved in outer dynein arm assembly and required for motile cilia function.
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCDC151 Gene
Genomics for CCDC151 Gene
Regulatory Elements for CCDC151 Gene
Enhancers for CCDC151 Gene
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around CCDC151 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Location for CCDC151 Gene
- Chromosome:
- 19
- Start:
- 11,420,604 bp from pter
- End:
- 11,435,782 bp from pter
- Size:
- 15,179 bases
- Orientation:
- Minus strand
Genomic View for CCDC151 Gene
Genes around CCDC151 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 19p13.2 by Ensembl
- 19p13.2 by Entrez Gene
- 19p13.2 by HGNC
CCDC151 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CCDC151 Gene
Proteins for CCDC151 Gene
-
Protein details for CCDC151 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- A5D8V7-CC151_HUMAN
- Recommended name:
- Coiled-coil domain-containing protein 151
- Protein Accession:
- A5D8V7
- B4DXT0
- Q96CG5
Protein attributes for CCDC151 Gene
- Size:
- 595 amino acids
- Molecular mass:
- 69140 Da
- Quaternary structure:
-
- Interacts with CCDC114.
Protein Expression for CCDC151 Gene
Post-translational modifications for CCDC151 Gene
Other Protein References for CCDC151 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for CCDC151
- Novus Biologicals Antibodies for CCDC151
- Invitrogen Antibodies for CCDC151
- GeneTex CCDC151 antibody for CCDC151
Protein Products
-
OriGene Purified Proteins for CCDC151
- Search Origene for MassSpec and Protein Over-expression Lysates for CCDC151
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- Search GeneTex for Proteins for CCDC151
Assay Products
No data available for DME Specific Peptides for CCDC151 Gene
Domains & Families for CCDC151 Gene
Suggested Antigen Peptide Sequences for CCDC151 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for Gene Families and UniProtKB/Swiss-Prot for CCDC151 Gene
Function for CCDC151 Gene
Molecular function for CCDC151 Gene
- UniProtKB/Swiss-Prot Function:
- Ciliary protein involved in outer dynein arm assembly and required for motile cilia function.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 23455924 |
Phenotypes for CCDC151 Gene
- MGI mutant phenotypes for CCDC151:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CCDC151:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
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-
-
ViGene Biosciences lentiviral particle packaged cDNA for CCDC151 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC151 gene
- Search ViGene Biosciences for CCDC151
CRISPR Products
-
OriGene CRISPR knockouts for CCDC151
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC151
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miRNA for CCDC151 Gene
- miRTarBase miRNAs that target CCDC151
miRNA Products
- Search ViGene Biosciences for CCDC151
Inhibitory RNA Products
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-
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-
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- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC151
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for CCDC151
-
ViGene Biosciences adenoviral particle packaged cDNA for CCDC151 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for CCDC151 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC151 gene
Flow Cytometry Products
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CCDC151 Gene
Localization for CCDC151 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CCDC151 Gene
- Cell projection, cilium. Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole. Cytoplasm, cytoskeleton, cilium axoneme.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 4 |
| cytosol | 2 |
| mitochondrion | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005814 | centriole | ISS | -- |
| GO:0005856 | cytoskeleton | IEA | -- |
| GO:0005929 | cilium | ISS,IEA | -- |
| GO:0005930 | axoneme | IDA | 25192045 |
Pathways & Interactions for CCDC151 Gene
No Data Available
Interacting Proteins for CCDC151 Gene
Selected Interacting proteins:
ENSP00000348757
A5D8V7-CC151_HUMAN
for CCDC151 Gene via
STRING
UniProtKB
IID
MINT
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003341 | cilium movement | IMP | 25192045 |
| GO:0007368 | determination of left/right symmetry | IMP | 25192045 |
| GO:0030030 | cell projection organization | IEA | -- |
| GO:0036158 | outer dynein arm assembly | IDA | 25192045 |
| GO:0070286 | axonemal dynein complex assembly | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for CCDC151 Gene
Transcripts for CCDC151 Gene
mRNA/cDNA for CCDC151 Gene
- (4) REFSEQ mRNAs :
- (10) Additional mRNA sequences :
- (33) Selected AceView cDNA sequences:
- (5) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CCDC151 Gene
CRISPR Products
-
OriGene CRISPR knockouts for CCDC151
-
Santa Cruz Biotechnology (SCBT) CRISPR for CCDC151
- GenScript: Design CRISPR guide RNA sequences for CCDC151
miRNA Products
- Search ViGene Biosciences for CCDC151
Inhibitory RNA Products
- Origene shRNA, siRNA, and RNAi products in human, mouse, rat for CCDC151
- Browse OriGene Inhibitory RNA Products For CCDC151
-
ViGene Biosciences ready-to-package AAV shRNAs for CCDC151 gene
Clone Products
-
OriGene ORF clones in human for CCDC151
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- VectorBuilder custom plasmid, inducible vectors for CCDC151
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC151
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
Expression for CCDC151 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Crest (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for CCDC151 Gene
This gene is overexpressed in Testis (x6.4) and Pituitary (x5.1).
This gene is overexpressed in Kidney (34.7), Plasma (17.6), and Liver (11.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CCDC151 Gene
NURSA nuclear receptor signaling pathways regulating expression of CCDC151 Gene:
CCDC151SOURCE GeneReport for Unigene cluster for CCDC151 Gene:
Hs.124010Evidence on tissue expression from TISSUES for CCDC151 Gene
- Eye(4.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CCDC151 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- immune
- integumentary
- lymphatic
- nervous
- reproductive
- respiratory
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cranial nerve
- ear
- epiglottis
- eye
- head
- larynx
- meninges
- middle ear
- mouth
- neck
- nose
- olfactory bulb
- outer ear
- pharynx
- sinus
- skull
Thorax:
- bronchus
- lung
- trachea
Abdomen:
- spleen
Pelvis:
- ovary
- testicle
General:
- blood
- blood vessel
- peripheral nervous system
- white blood cell
Primer Products
-
OriGene qPCR primer pairs for CCDC151
No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for CCDC151 Gene
Orthologs for CCDC151 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CCDC151 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CCDC151 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CCDC151 34 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ccdc151 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Ccdc151 34 16 35 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CCDC151 35 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | -- 35 |
|
OneToMany | |
| -- 35 |
|
OneToMany | |||
| lizard (Anolis carolinensis) |
Reptilia | CCDC151 35 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ccdc151 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ccdc151 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG14127 35 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne |
- Species where no ortholog for CCDC151 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Paralogs for CCDC151 Gene
(2) SIMAP similar genes for CCDC151 Gene using alignment to 6 proteins:
No data available for Paralogs for CCDC151 Gene
Variants for CCDC151 Gene
| SNP ID | Clin | Chr 19 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs587777779 | Pathogenic | 11,426,182(+) | CTCCT(A/C)GGCGC | intron-variant, reference, stop-gained | |
| rs587777780 | Pathogenic | 11,422,722(+) | CCCCC(A/G/T)AGTAC | downstream-variant-500B, reference, missense | |
| rs115820640 | Likely benign | 11,435,665(+) | CTGGA(C/G/T)AAGAG | intron-variant, upstream-variant-2KB, utr-variant-5-prime | |
| rs138496627 | Likely benign | 11,435,641(+) | TTTCT(A/G)CAGCA | intron-variant, upstream-variant-2KB, utr-variant-5-prime | |
| rs149258999 | Likely benign | 11,436,391(+) | CAGAT(A/C/T)ATCAC | upstream-variant-2KB, reference, missense |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2718178 | CNV | deletion | 23290073 |
| esv2718179 | CNV | deletion | 23290073 |
| nsv519802 | CNV | loss | 19592680 |
| nsv833752 | CNV | loss | 17160897 |
| nsv953975 | CNV | deletion | 24416366 |
Residual Variation Intolerance Score:
48.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
3.54;
55.79% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for CCDC151 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC151 Gene
Disorders for CCDC151 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ciliary dyskinesia, primary, 30 |
|
|
| primary ciliary dyskinesia30: ccdc151-related primary ciliary dyskinesia |
|
|
| ciliary dyskinesia, primary, 1, with or without situs inversus |
|
|
| kartagener syndrome |
|
|
| primary ciliary dyskinesia |
|
|
Search CCDC151 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CC151_HUMAN- Ciliary dyskinesia, primary, 30 (CILD30) [MIM:616037]: 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. 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. {ECO:0000269 PubMed:25192045, ECO:0000269 PubMed:25224326}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Relevant External Links for CCDC151
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- CCDC151
No data available for Genatlas for CCDC151 Gene
Publications for CCDC151 Gene
- The coiled-coil domain containing protein CCDC151 is required for the function of IFT-dependent motile cilia in animals. (PMID: 24067530) Jerber J. … Durand B. (Hum. Mol. Genet. 2014) 2 3 64
- CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. (PMID: 25192045) Hjeij R. … Mitchison H.M. (Am. J. Hum. Genet. 2014) 3 4 64
- Nonsense mutation in coiled coil domain containing 151 gene (CCDC151) causes Primary ciliary dyskinesia. (PMID: 25224326) Alsaadi M.M. … Day I.N. (Hum. Mutat. 2014) 3 4 64
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
- The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3 64
Products for CCDC151 Gene
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- Novus Biologicals Antibodies for CCDC151
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- Horizon Cell Lines for CCDC151
- Cyagen custom Knockout/knockin (KOKI) mouse models for CCDC151
- VectorBuilder custom plasmid, inducible vectors for CCDC151
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CCDC151
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CCDC151 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer