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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. Diseases associated with BBOF1 include Methylmalonate Semialdehyde Dehydrogenase Deficiency.

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).

Additional gene information for BBOF1 Gene

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

GeneHancer (GH) Regulatory Elements for BBOF1 Gene

Promoters and enhancers for BBOF1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH14J074017 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 -0.3 -318 2.6 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B ZNF207 ZNF143 ENTPD5 BBOF1 LOC100506476 ZNF410 NUMB ELMSAN1 RBM25 PGF LIN52 RPL41P4
GH14J074140 Enhancer 1.4 FANTOM5 Ensembl ENCODE 10.3 +121.2 121222 0.8 PKNOX1 FEZF1 ZNF2 YY1 ZNF121 GLIS2 ZNF213 KLF7 SP3 RXRA LOC105370563 MLH3 YLPM1 ENSG00000258559 ABCD4 LIN52 ENSG00000259138 ELMSAN1 NEK9 ENSG00000258443
GH14J073536 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 5.6 -481.3 -481251 3.5 ARID4B SIN3A DMAP1 ZNF48 YY1 NFKBIZ RXRA SP5 MIER2 REST ACOT1 NT5CP2 GC14M073540 ACOT2 BBOF1 ENSG00000258695 HEATR4
GH14J073782 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 4.2 -232.3 -232267 9.2 PKNOX1 FOXA2 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 LOC100506476 ELMSAN1 GC14P073786 ZNF410 RBM25 PTGR2 LOC100420966 DCAF4 YLPM1 ENSG00000258559
GH14J073994 Enhancer 1.1 ENCODE dbSUPER 5.4 -22.0 -22009 6.2 FOXA2 MLX ARID4B ZNF48 YY1 RXRA SP5 REST PPARG KAT8 PTGR2 LIN52 LOC100506476 COQ6 FAM161B ALDH6A1 ENSG00000223300 ENTPD5 BBOF1 RPL41P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around BBOF1 on UCSC Golden Path with GeneCards custom track

Genomic Locations for BBOF1 Gene

Genomic Locations for BBOF1 Gene
chr14:74,019,350-74,082,863
(GRCh38/hg38)
Size:
63,514 bases
Orientation:
Plus strand
chr14:74,486,056-74,549,566
(GRCh37/hg19)
Size:
63,511 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

Gene Families for BBOF1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

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 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).

Phenotypes From GWAS Catalog for BBOF1 Gene

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

Animal Model Products

CRISPR Products

miRNA for BBOF1 Gene

miRTarBase miRNAs that target BBOF1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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}.

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

Subcellular locations from the

Human Protein Atlas (HPA)
  • Microtubule organizing center (2)
  • Nucleus (2)
  • Plasma membrane (2)
See all subcellular structures

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for BBOF1

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

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 34 33
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CCDC176 34 33
  • 89.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CCDC176 34 33
  • 88.21 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ccdc176 34 33
  • 84.29 (n)
OneToOne
Bbof1 16
rat
(Rattus norvegicus)
Mammalia Ccdc176 33
  • 83.4 (n)
oppossum
(Monodelphis domestica)
Mammalia CCDC176 34
  • 67 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CCDC176 34
  • 59 (a)
OneToOne
chicken
(Gallus gallus)
Aves C5H14ORF45 33
  • 63.42 (n)
CCDC176 34
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CCDC176 34
  • 57 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ccdc176 33
  • 62.1 (n)
zebrafish
(Danio rerio)
Actinopterygii si:ch211-163l21.10 33
  • 50.1 (n)
CCDC176 (1 of 2) 34
  • 41 (a)
OneToMany
CCDC176 (2 of 2) 34
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for BBOF1: view image

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 Variation AA Info Type
rs10146187 uncertain-significance, Methylmalonate semialdehyde dehydrogenase deficiency 74,068,993(+) A/G genic_downstream_transcript_variant, intron_variant
rs1135885 uncertain-significance, benign, Methylmalonate semialdehyde dehydrogenase deficiency 74,060,239(+) A/C/G genic_downstream_transcript_variant, intron_variant
rs1135886 likely-benign, Methylmalonate semialdehyde dehydrogenase deficiency 74,060,209(+) G/A genic_downstream_transcript_variant, intron_variant
rs117311919 uncertain-significance, Methylmalonate semialdehyde dehydrogenase deficiency 74,060,408(+) G/A genic_downstream_transcript_variant, intron_variant
rs150950908 uncertain-significance, Methylmalonate semialdehyde dehydrogenase deficiency 74,060,333(+) C/G/T genic_downstream_transcript_variant, intron_variant

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)

Additional Variant Information for BBOF1 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BBOF1 Gene

Disorders for BBOF1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for BBOF1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
methylmalonate semialdehyde dehydrogenase deficiency
  • mmsdhd
- elite association - COSMIC cancer census association via MalaCards
Search BBOF1 in MalaCards View complete list of genes associated with diseases
genes like me logo Genes that share disorders with BBOF1: view

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

Publications for BBOF1 Gene

  1. Bbof1 is required to maintain cilia orientation. (PMID: 23900544) Chien YH … Kintner C (Development (Cambridge, England) 2013) 2 3 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  4. Charting the landscape of tandem BRCT domain-mediated protein interactions. (PMID: 22990118) Woods NT … Monteiro AN (Science signaling 2012) 3 58
  5. Toward a confocal subcellular atlas of the human proteome. (PMID: 18029348) Barbe L … Andersson-Svahn H (Molecular & cellular proteomics : MCP 2008) 3 58

Products for BBOF1 Gene

Sources for BBOF1 Gene

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