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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
  • Basal Body-Orientation Factor 1 3

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 , CIViC 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

Enhancers for BBOF1 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
GH14G073536 1.2 Ensembl ENCODE 5.6 -481.3 -481252 3.5 ARID4B SIN3A DMAP1 ZNF48 YY1 SP5 MIER2 KAT8 SREBF1 MIER3 ACOT1 ACOT2 BBOF1 GC14M073540 ENSG00000258695
GH14G073994 1.2 ENCODE dbSUPER 5.4 -22.0 -22010 6.2 HNRNPUL1 FOXA2 ATF1 MLX ARID4B FEZF1 ZNF48 YY1 SP5 PPARG PTGR2 LIN52 LOC100506476 COQ6 FAM161B ALDH6A1 ENSG00000223300 ENTPD5 BBOF1 RPL41P4
GH14G073782 1.4 ENCODE dbSUPER 4.2 -232.3 -232267 9.2 PKNOX1 FOXA2 MLX CREB3L1 ZFP64 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 LOC100506476 PTGR2 ENSG00000223300 ZNF410 LIN52 ACOT1 BBOF1 GC14P073786
GH14G073424 0.7 Ensembl ENCODE 5.8 -594.5 -594531 1.6 JUN SPI1 ENSG00000258944 ENSG00000258695 BBOF1 NUMB GC14P073395 LOC105370561
GH14G074017 1.1 ENCODE 0.7 -0.3 -318 2.6 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 ZNF207 LOC100506476 ENTPD5 LIN52 BBOF1 RPL41P4
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BBOF1 on UCSC Golden Path with GeneCards custom track

Promoters for BBOF1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000070696 -250 1801 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF143 ZNF207

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

Post-translational modifications for BBOF1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Inhibitory RNA Products

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}.

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 BBOF1 gene
Compartment Confidence
cytoskeleton 5
nucleus 3
cytosol 3
plasma membrane 2
extracellular 1

Gene Ontology (GO) - Cellular Components for BBOF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005929 cilium IEA --
GO:0036064 ciliary basal body ISS,IEA --
GO:0042995 cell projection IEA --
genes like me logo Genes that share ontologies with BBOF1: view

Pathways & Interactions for BBOF1 Gene

SuperPathways for BBOF1 Gene

No Data Available

Interacting Proteins for BBOF1 Gene

Selected Interacting proteins: Q8ND07-BBOF1_HUMAN for BBOF1 Gene via IID

Symbol External ID(s) Details
LIG4

Gene Ontology (GO) - Biological Process for BBOF1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0044458 motile cilium assembly ISS --
genes like me logo Genes that share ontologies with BBOF1: view

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

Inhibitory RNA Products

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

NURSA nuclear receptor signaling pathways regulating expression of BBOF1 Gene:

BBOF1

Evidence on tissue expression from TISSUES for BBOF1 Gene

  • Lung(4.2)
  • Nervous system(4.2)
  • Liver(2.3)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with BBOF1: view

Primer 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 , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia CCDC176 35 34
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC176 35 34
  • 89.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC176 35 34
  • 88.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc176 35 34
  • 84.29 (n)
OneToOne
Bbof1 16
rat
(Rattus norvegicus)
Mammalia Ccdc176 34
  • 83.4 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC176 35
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC176 35
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves C5H14ORF45 34
  • 63.42 (n)
CCDC176 35
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC176 35
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc176 34
  • 62.1 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-163l21.10 34
  • 50.1 (n)
CCDC176 (1 of 2) 35
  • 41 (a)
OneToMany
CCDC176 (2 of 2) 35
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 43 (a)
OneToOne
Species where no ortholog for BBOF1 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)
  • 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
rs72552258 Pathogenic 74,065,249(-) GAAAT(A/G)GAACT intron-variant, reference, missense, utr-variant-3-prime
rs796065046 Pathogenic 74,072,539(-) ACAAC(C/T)CAGTA intron-variant, reference, missense, utr-variant-5-prime
rs869320672 Pathogenic 74,071,411(-) ATTCC(C/T)ACCGT intron-variant, reference, missense
rs879255579 Pathogenic 74,068,927(-) GGGAT(A/C)CAACA intron-variant, reference, missense
rs1135886 Likely benign 74,060,209(-) CGTGG(C/T)GAAAC intron-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for BBOF1 Gene

Variant ID Type Subtype PubMed ID
dgv1936n100 CNV gain 25217958
dgv1937n100 CNV gain 25217958
dgv1938n100 CNV gain 25217958
esv2664109 CNV deletion 23128226
esv2664799 CNV deletion 23128226
esv3634930 CNV loss 21293372
esv3634931 CNV loss 21293372
esv3634932 CNV loss 21293372
nsv1046028 CNV loss 25217958
nsv1053281 CNV gain 25217958
nsv524396 CNV gain 19592680

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

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BBOF1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot 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 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  4. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PMID: 22990118) Woods N.T. … Monteiro A.N. (Sci Signal 2012) 3 64
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L. … Andersson-Svahn H. (Mol. Cell Proteomics 2008) 3 64

Products for BBOF1 Gene

Sources for BBOF1 Gene

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