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Aliases for CCDC151 Gene

Aliases for CCDC151 Gene

  • Coiled-Coil Domain Containing 151 2 3 5
  • Coiled-Coil Domain-Containing Protein 151 3
  • CILD30 3

External Ids for CCDC151 Gene

Previous GeneCards Identifiers for CCDC151 Gene

  • GC19M011531
  • GC19M011106

Summaries for CCDC151 Gene

Entrez Gene Summary 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 Dyskinesia 30: Ccdc151-Related Primary Ciliary Dyskinesia. An important paralog of this gene is CCDC183.

UniProtKB/Swiss-Prot for CCDC151 Gene

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

Additional gene information for CCDC151 Gene

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
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19H011530 1.5 FANTOM5 Ensembl ENCODE 5 -94.7 -94720 0 PKNOX1 MLX ARID4B SIN3A SLC30A9 ZNF143 FOS MXD4 NFYC MIER2 ZNF439 CCDC151 ELAVL3 ZNF491 ZNF653 ZNF441 ECSIT GC19P011537
GH19H011478 1.8 FANTOM5 Ensembl ENCODE 3.3 -45.8 -45844 5 HDGF PKNOX1 MLX ARNT ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF416 ILF3 ZNF627 ZNF136 KRI1 TIMM29 ZNF844 ENSG00000242615 ZNF441 ZNF44 ZNF625
GH19H011373 1.7 FANTOM5 ENCODE dbSUPER 2 +59.5 59463 6 HDGF PKNOX1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ILF3 ZNF136 KRI1 ZNF627 ZNF442 ZNF625 ZNF823 ZNF844 ZNF491 ZNF44
GH19H011434 1.1 ENCODE 0.7 +0.1 51 2 FOXA2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207 ZNF143 CNN1 KANK2 LOC101928464 KRI1 ZNF563 PRKCSH CCDC151
GH19H011452 1.1 Ensembl dbSUPER 0.4 -18.0 -17959 2 TBL1XR1 ARID4B RARA TCF12 ZNF366 THAP11 ZNF362 CEBPB SMARCA4 CEBPA ELAVL3 TSPAN16 EPOR SWSAP1 GC19M011460 CCDC151
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CCDC151 on UCSC Golden Path with GeneCards custom track

Promoters for CCDC151 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000107181 182 1201 FOXA2 PKNOX1 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF207

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:
CCDC151 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CCDC151 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene 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
    Secondary Accessions:
    • B4DXT0
    • Q96CG5

    Protein attributes for CCDC151 Gene

    Size:
    595 amino acids
    Molecular mass:
    69140 Da
    Quaternary structure:
    • Interacts with CCDC114.

    Alternative splice isoforms for CCDC151 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CCDC151 Gene

Post-translational modifications for CCDC151 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CCDC151 Gene

No data available for DME Specific Peptides for CCDC151 Gene

Domains & Families for CCDC151 Gene

Gene Families for CCDC151 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CCDC151 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CCDC151 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with CCDC151: view

No data available for 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.

Gene Ontology (GO) - Molecular Function for CCDC151 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23455924
genes like me logo Genes that share ontologies with CCDC151: view
genes like me logo Genes that share phenotypes with CCDC151: view

Human Phenotype Ontology for CCDC151 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CCDC151 Gene

miRTarBase miRNAs that target CCDC151

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCDC151
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CCDC151 gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 2
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CCDC151 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005814 centriole ISS --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA,ISS --
GO:0005930 axoneme IDA 25192045
genes like me logo Genes that share ontologies with CCDC151: view

Pathways & Interactions for CCDC151 Gene

SuperPathways for CCDC151 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CCDC151 Gene

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 --
genes like me logo Genes that share ontologies with CCDC151: view

No data available for Pathways by source and SIGNOR curated interactions for CCDC151 Gene

Drugs & Compounds for CCDC151 Gene

No Compound Related Data Available

Transcripts for CCDC151 Gene

Unigene Clusters for CCDC151 Gene

Coiled-coil domain containing 151:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CCDC151
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for CCDC151 Gene

No ASD Table

Relevant External Links for CCDC151 Gene

GeneLoc Exon Structure for
CCDC151
ECgene alternative splicing isoforms for
CCDC151

Expression for CCDC151 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CCDC151 Gene

mRNA differential expression in normal tissues according to GTEx for CCDC151 Gene

This gene is overexpressed in Testis (x6.4) and Pituitary (x5.1).

Protein differential expression in normal tissues from HIPED for CCDC151 Gene

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:

CCDC151

SOURCE GeneReport for Unigene cluster for CCDC151 Gene:

Hs.124010

Evidence 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
genes like me logo Genes that share expression patterns with CCDC151: view

Primer Products

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.

Orthologs for CCDC151 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CCDC151 33 34
  • 99.33 (n)
cow
(Bos Taurus)
Mammalia CCDC151 33 34
  • 81.79 (n)
dog
(Canis familiaris)
Mammalia CCDC151 33 34
  • 81.39 (n)
rat
(Rattus norvegicus)
Mammalia Ccdc151 33
  • 76.06 (n)
mouse
(Mus musculus)
Mammalia Ccdc151 33 16 34
  • 75.5 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC151 34
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 39 (a)
OneToMany
-- 34
  • 31 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia CCDC151 34
  • 40 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc151 33
  • 56.94 (n)
zebrafish
(Danio rerio)
Actinopterygii ccdc151 33 34
  • 52.63 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG14127 34
  • 21 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 41 (a)
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)

Evolution for CCDC151 Gene

ENSEMBL:
Gene Tree for CCDC151 (if available)
TreeFam:
Gene Tree for CCDC151 (if available)

Paralogs for CCDC151 Gene

Paralogs for CCDC151 Gene

(2) SIMAP similar genes for CCDC151 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with CCDC151: view

Variants for CCDC151 Gene

Sequence variations from dbSNP and Humsavar 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

Structural Variations from Database of Genomic Variants (DGV) for CCDC151 Gene

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

Variation tolerance for CCDC151 Gene

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

Human Gene Mutation Database (HGMD)
CCDC151
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CCDC151

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCDC151 Gene

Disorders for CCDC151 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CCDC151 Gene - From: HGMD, OMIM, ClinVar, GeneTests, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ciliary dyskinesia, primary, 30
  • primary ciliary dyskinesia 30
primary ciliary dyskinesia 30: ccdc151-related primary ciliary dyskinesia
  • ciliary dyskinesia, primary, 30
kartagener syndrome
  • kartagener's syndrome
ciliary dyskinesia, primary, 1, with or without situs inversus
  • primary ciliary dyskinesia 1
primary ciliary dyskinesia
  • kartagener syndrome
- elite association - COSMIC cancer census association via MalaCards

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
genes like me logo Genes that share disorders with CCDC151: view

No data available for Genatlas for CCDC151 Gene

Publications for CCDC151 Gene

  1. 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 (Human molecular genetics 2014) 2 3 60
  2. CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. (PMID: 25192045) Hjeij R … Mitchison HM (American journal of human genetics 2014) 3 4 60
  3. Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia. (PMID: 25224326) Alsaadi MM … Day IN (Human mutation 2014) 3 4 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for CCDC151 Gene

Sources for CCDC151 Gene

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