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Aliases for BBOF1 Gene

Aliases for BBOF1 Gene

  • Basal Body Orientation Factor 1 2 3 5
  • Coiled-Coil Domain-Containing Protein 176 3 4
  • Coiled-Coil Domain Containing 176 2 3
  • C14orf45 3 4
  • CCDC176 3 4
  • Chromosome 14 Open Reading Frame 45 2

External Ids for BBOF1 Gene

Previous HGNC Symbols for BBOF1 Gene

  • C14orf45
  • CCDC176

Summaries for BBOF1 Gene

GeneCards Summary for BBOF1 Gene

BBOF1 (Basal Body Orientation Factor 1) is a Protein Coding gene.

UniProtKB/Swiss-Prot for BBOF1 Gene

  • Basal body protein required in multiciliate cells to align and maintain cilia orientation in response to flow. May act by mediating a maturation step that stabilizes and aligns cilia orientation. Not required to respond to planar cell polarity (PCP) or flow-based orientation cues (By similarity).

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BBOF1 Gene

Genomics for BBOF1 Gene

Regulatory Elements for BBOF1 Gene

Promoters for BBOF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around BBOF1 on UCSC Golden Path with GeneCards custom track

Genomic Location for BBOF1 Gene

Chromosome:
14
Start:
74,019,350 bp from pter
End:
74,082,863 bp from pter
Size:
63,514 bases
Orientation:
Plus strand

Genomic View for BBOF1 Gene

Genes around BBOF1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BBOF1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BBOF1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BBOF1 Gene

Proteins for BBOF1 Gene

  • Protein details for BBOF1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8ND07-BBOF1_HUMAN
    Recommended name:
    Basal body-orientation factor 1
    Protein Accession:
    Q8ND07
    Secondary Accessions:
    • Q0P604
    • Q9H5P8

    Protein attributes for BBOF1 Gene

    Size:
    529 amino acids
    Molecular mass:
    61987 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAI04980.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAI04982.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB15572.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BC044808; Type=Frameshift; Positions=428, 448; Evidence={ECO:0000305};

neXtProt entry for BBOF1 Gene

Proteomics data for BBOF1 Gene at MOPED

Post-translational modifications for BBOF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for BBOF1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for BBOF1 Gene

Domains & Families for BBOF1 Gene

Protein Domains for BBOF1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q8ND07

UniProtKB/Swiss-Prot:

BBOF1_HUMAN :
  • Belongs to the BBOF1 family.
Family:
  • Belongs to the BBOF1 family.
genes like me logo Genes that share domains with BBOF1: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for BBOF1 Gene

Function for BBOF1 Gene

Molecular function for BBOF1 Gene

UniProtKB/Swiss-Prot Function:
Basal body protein required in multiciliate cells to align and maintain cilia orientation in response to flow. May act by mediating a maturation step that stabilizes and aligns cilia orientation. Not required to respond to planar cell polarity (PCP) or flow-based orientation cues (By similarity).
genes like me logo Genes that share phenotypes with BBOF1: view

Animal Model Products

miRNA for BBOF1 Gene

miRTarBase miRNAs that target BBOF1

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BBOF1 Gene

Localization for BBOF1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BBOF1 Gene

Cytoplasm, cytoskeleton, cilium basal body. Note=Localizes to a polar structure adjacent to the basal body. {ECO:0000250}.

Gene Ontology (GO) - Cellular Components for BBOF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with BBOF1: view

No data available for Subcellular locations from COMPARTMENTS for BBOF1 Gene

Pathways & Interactions for BBOF1 Gene

SuperPathways for BBOF1 Gene

No Data Available

Interacting Proteins for BBOF1 Gene

Gene Ontology (GO) - Biological Process for BBOF1 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for BBOF1 Gene

Drugs & Compounds for BBOF1 Gene

No Compound Related Data Available

Transcripts for BBOF1 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for BBOF1 Gene

No ASD Table

Relevant External Links for BBOF1 Gene

GeneLoc Exon Structure for
BBOF1
ECgene alternative splicing isoforms for
BBOF1

Expression for BBOF1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

genes like me logo Genes that share expression patterns with BBOF1: view

In Situ Assay Products

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for BBOF1 Gene

Orthologs for BBOF1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for BBOF1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CCDC176 35
  • 88.21 (n)
  • 81.53 (a)
CCDC176 36
  • 80 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC176 35
  • 89.43 (n)
  • 84.34 (a)
CCDC176 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc176 35
  • 84.29 (n)
  • 79.49 (a)
Bbof1 16
Ccdc176 36
  • 78 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CCDC176 35
  • 99.62 (n)
  • 99.24 (a)
CCDC176 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ccdc176 35
  • 83.4 (n)
  • 79.84 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC176 36
  • 59 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CCDC176 36
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves C5H14ORF45 35
  • 63.42 (n)
  • 53.53 (a)
CCDC176 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC176 36
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc176 35
  • 62.1 (n)
  • 54.4 (a)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-163l21.10 35
  • 50.1 (n)
  • 39.67 (a)
CCDC176 (2 of 2) 36
  • 39 (a)
OneToMany
CCDC176 (1 of 2) 36
  • 41 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 43 (a)
OneToOne
Species with no ortholog for BBOF1:
  • 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)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 BBOF1 Gene

ENSEMBL:
Gene Tree for BBOF1 (if available)
TreeFam:
Gene Tree for BBOF1 (if available)

Paralogs for BBOF1 Gene

Pseudogenes.org Pseudogenes for BBOF1 Gene

genes like me logo Genes that share paralogs with BBOF1: view

No data available for Paralogs for BBOF1 Gene

Variants for BBOF1 Gene

Sequence variations from dbSNP and Humsavar for BBOF1 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_027815 -
rs3784039 - 74,023,032(-) GTATC(C/T)GTGAA intron-variant, nc-transcript-variant, upstream-variant-2KB, reference, missense, utr-variant-5-prime
rs17182762 - 74,040,617(+) TAGAA(A/G)ACTGG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs3784038 - 74,047,971(-) GATAA(A/G/T)CATTC intron-variant, nc-transcript-variant, reference, missense, utr-variant-5-prime
rs1057466 -- 74,048,261(-) TGAGT(C/T)TAATG intron-variant

Variation tolerance for BBOF1 Gene

Residual Variation Intolerance Score: 90.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.54; 92.98% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BBOF1 Gene

HapMap Linkage Disequilibrium report
BBOF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for BBOF1 Gene

Disorders for BBOF1 Gene

Relevant External Links for BBOF1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BBOF1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BBOF1

No disorders were found for BBOF1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for BBOF1 Gene

Publications for BBOF1 Gene

  1. Bbof1 is required to maintain cilia orientation. (PMID: 23900544) Chien Y.H. … Kintner C. (Development 2013) 2 3 67
  2. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PMID: 22990118) Woods N.T. … Monteiro A.N. (Sci Signal 2012) 3
  3. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen J.V. … Mann M. (Cell 2006) 3
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3

Products for BBOF1 Gene

Sources for BBOF1 Gene

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