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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
    mouse all
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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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