U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 80127, updated on 14-Nov-2024

    Summary

    Go to the top of the page Help
    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 sperm axoneme assembly. Predicted to be located in axoneme; ciliary basal body; and sperm flagellum. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Broad expression in kidney (RPKM 30.8), liver (RPKM 16.1) and 17 other tissues See more
    Orthologs
    mouse all
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    Go to the top of the page Help
    See BBOF1 in Genome Data Viewer
    Location:
    14q24.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (74019349..74082864)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (68227014..68286031)
    RS_2024_09 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

    Go to the top of the page Help

    Go to nucleotide: Graphics FASTA GenBank

    Expression

    Go to the top of the page Help
    • Project title: HPA RNA-seq normal tissues 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

    Go to the top of the pageHelp

    GeneRIFs: Gene References Into Functions

    Phenotypes

    Go to the top of the page Help

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

    Go to the top of the page Help

    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

    Go to the top of the page Help
    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Go to the top of the page Help

    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 negative regulation of microtubule depolymerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein stabilization IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in single fertilization IEA
    Inferred from Electronic Annotation
    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

    Go to the top of the page Help
    Preferred Names
    basal body-orientation factor 1
    Names
    coiled-coil domain containing 176
    coiled-coil domain-containing protein 176

    NCBI Reference Sequences (RefSeq)

    Go to the top of the page Help

    NEW Try the new Transcript table

    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_2024_08

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools