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BBOF1 basal body orientation factor 1 [ Homo sapiens (human) ]

Gene ID: 80127, updated on 5-Mar-2024

Summary

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Official Symbol
BBOF1provided by HGNC
Official Full Name
basal body orientation factor 1provided by HGNC
Primary source
HGNC:HGNC:19855
See related
Ensembl:ENSG00000119636 MIM:620496; AllianceGenome:HGNC:19855
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
FBB10; CCDC176; C14orf45
Summary
Predicted to be involved in motile cilium assembly. Predicted to be located in ciliary basal body. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Broad expression in kidney (RPKM 30.8), liver (RPKM 16.1) and 17 other tissues See more
Orthologs
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Genomic context

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Location:
14q24.3
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74019349..74082864)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (68227014..68286031)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (74486052..74532795)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene FAM161 centrosomal protein B Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:74416687-74417687 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:74418757-74419055 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 5 (inactive) Neighboring gene coenzyme Q6, monooxygenase Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:74459045-74459546 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5926 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5925 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5924 Neighboring gene Sharpr-MPRA regulatory region 8014 Neighboring gene Sharpr-MPRA regulatory regions 4216 and 10298 Neighboring gene ribosomal protein L41 pseudogene 4 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_36659 Neighboring gene ReSE screen-validated silencer GRCh37_chr14:74530601-74530820 Neighboring gene aldehyde dehydrogenase 6 family member A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8724 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8725 Neighboring gene uncharacterized LOC105370563 Neighboring gene RNY4 pseudogene 21 Neighboring gene lin-52 DREAM MuvB core complex component

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Bbof1 is required to maintain cilia orientation. Chien YH, et al. Development, 2013 Aug. PMID 23900544, Free PMC Article
  2. POH1 contributes to hyperactivation of TGF-β signaling and facilitates hepatocellular carcinoma metastasis through deubiquitinating TGF-β receptors and caveolin-1. Wang B, et al. EBioMedicine, 2019 Mar. PMID 30745168, Free PMC Article
  3. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118, Free PMC Article
  4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. Olsen JV, et al. Cell, 2006 Nov 3. PMID 17081983
  5. Toward a confocal subcellular atlas of the human proteome. Barbe L, et al. Mol Cell Proteomics, 2008 Mar. PMID 18029348

See all (8) citations in PubMed

GeneRIFs: Gene References Into Functions

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23189

Gene Ontology Provided by GOA

Process Evidence Code Pubs
involved_in flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in motile cilium assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
involved_in sperm axoneme assembly ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in axoneme ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in ciliary basal body ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in sperm flagellum ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
basal body-orientation factor 1
Names
coiled-coil domain containing 176
coiled-coil domain-containing protein 176

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_033060.1 RefSeqGene

    Range
    4994..51737
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_025057.3 → NP_079333.2  basal body-orientation factor 1

    See identical proteins and their annotated locations for NP_079333.2

    Status: VALIDATED

    Source sequence(s)
    AC005484, AK026842, AL834487, BC044808, BC104979, DB484577, DB493409
    Consensus CDS
    CCDS32119.2
    UniProtKB/Swiss-Prot
    Q0P604, Q8ND07, Q9H5P8
    Related
    ENSP00000377577.3, ENST00000394009.5
    Conserved Domains (1) summary
    pfam14988
    Location:77 → 270
    DUF4515; Domain of unknown function (DUF4515)

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    74019349..74082864
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011537171.3 → XP_011535473.1  basal body-orientation factor 1 isoform X2

    Conserved Domains (1) summary
    pfam14988
    Location:77 → 264
    DUF4515; Domain of unknown function (DUF4515)

  2. XM_011537174.3 → XP_011535476.1  basal body-orientation factor 1 isoform X4

    Conserved Domains (1) summary
    pfam14988
    Location:77 → 264
    DUF4515; Domain of unknown function (DUF4515)

  3. XM_047431778.1 → XP_047287734.1  basal body-orientation factor 1 isoform X5

  4. XM_017021663.2 → XP_016877152.1  basal body-orientation factor 1 isoform X18

  5. XM_047431779.1 → XP_047287735.1  basal body-orientation factor 1 isoform X8

  6. XM_017021660.2 → XP_016877149.1  basal body-orientation factor 1 isoform X11

  7. XM_017021661.2 → XP_016877150.1  basal body-orientation factor 1 isoform X13

  8. XM_047431781.1 → XP_047287737.1  basal body-orientation factor 1 isoform X14

  9. XM_017021662.2 → XP_016877151.1  basal body-orientation factor 1 isoform X17

  10. XM_011537176.3 → XP_011535478.1  basal body-orientation factor 1 isoform X7

    Conserved Domains (1) summary
    pfam14988
    Location:4 → 191
    DUF4515; Domain of unknown function (DUF4515)

  11. XM_011537170.3 → XP_011535472.1  basal body-orientation factor 1 isoform X1

    Conserved Domains (1) summary
    pfam14988
    Location:77 → 264
    DUF4515; Domain of unknown function (DUF4515)

  12. XM_005268092.4 → XP_005268149.1  basal body-orientation factor 1 isoform X3

    Conserved Domains (1) summary
    pfam14988
    Location:77 → 270
    DUF4515; Domain of unknown function (DUF4515)

  13. XM_047431783.1 → XP_047287739.1  basal body-orientation factor 1 isoform X16

  14. XM_011537175.3 → XP_011535477.1  basal body-orientation factor 1 isoform X6

    Conserved Domains (2) summary
    pfam14988
    Location:77 → 216
    DUF4515; Domain of unknown function (DUF4515)
    cl19219
    Location:63 → 181
    DUF342; Protein of unknown function (DUF342)

  15. XM_011537177.3 → XP_011535479.1  basal body-orientation factor 1 isoform X9

    See identical proteins and their annotated locations for XP_011535479.1

    Conserved Domains (1) summary
    pfam14988
    Location:1 → 124
    DUF4515; Domain of unknown function (DUF4515)

  16. XM_047431780.1 → XP_047287736.1  basal body-orientation factor 1 isoform X10

  17. XM_011537179.3 → XP_011535481.1  basal body-orientation factor 1 isoform X12

    Conserved Domains (2) summary
    pfam05483
    Location:89 → 281
    SCP-1; Synaptonemal complex protein 1 (SCP-1)
    pfam14988
    Location:1 → 60
    DUF4515; Domain of unknown function (DUF4515)

  18. XM_047431782.1 → XP_047287738.1  basal body-orientation factor 1 isoform X15

  19. XM_047431785.1 → XP_047287741.1  basal body-orientation factor 1 isoform X20

  20. XM_047431784.1 → XP_047287740.1  basal body-orientation factor 1 isoform X19

  21. XM_011537178.3 → XP_011535480.1  basal body-orientation factor 1 isoform X9

    See identical proteins and their annotated locations for XP_011535480.1

    Conserved Domains (1) summary
    pfam14988
    Location:1 → 124
    DUF4515; Domain of unknown function (DUF4515)

RNA

  1. XR_007064048.1 RNA Sequence

  2. XR_007064049.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    68227014..68286031
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376731.1 → XP_054232706.1  basal body-orientation factor 1 isoform X21

  2. XM_054376736.1 → XP_054232711.1  basal body-orientation factor 1 isoform X22

  3. XM_054376730.1 → XP_054232705.1  basal body-orientation factor 1 isoform X2

  4. XM_054376733.1 → XP_054232708.1  basal body-orientation factor 1 isoform X4

  5. XM_054376734.1 → XP_054232709.1  basal body-orientation factor 1 isoform X5

  6. XM_054376748.1 → XP_054232723.1  basal body-orientation factor 1 isoform X18

  7. XM_054376738.1 → XP_054232713.1  basal body-orientation factor 1 isoform X8

  8. XM_054376742.1 → XP_054232717.1  basal body-orientation factor 1 isoform X11

  9. XM_054376744.1 → XP_054232719.1  basal body-orientation factor 1 isoform X13

  10. XM_054376745.1 → XP_054232720.1  basal body-orientation factor 1 isoform X14

  11. XM_054376747.1 → XP_054232722.1  basal body-orientation factor 1 isoform X17

  12. XM_054376737.1 → XP_054232712.1  basal body-orientation factor 1 isoform X7

  13. XM_054376729.1 → XP_054232704.1  basal body-orientation factor 1 isoform X1

  14. XM_054376732.1 → XP_054232707.1  basal body-orientation factor 1 isoform X3

  15. XM_054376735.1 → XP_054232710.1  basal body-orientation factor 1 isoform X6

  16. XM_054376739.1 → XP_054232714.1  basal body-orientation factor 1 isoform X9

  17. XM_054376741.1 → XP_054232716.1  basal body-orientation factor 1 isoform X10

  18. XM_054376743.1 → XP_054232718.1  basal body-orientation factor 1 isoform X12

  19. XM_054376746.1 → XP_054232721.1  basal body-orientation factor 1 isoform X15

  20. XM_054376749.1 → XP_054232724.1  basal body-orientation factor 1 isoform X19

  21. XM_054376740.1 → XP_054232715.1  basal body-orientation factor 1 isoform X9

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8ND07.3 GenPept UniProtKB/Swiss-Prot:Q8ND07

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