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BBS1 Bardet-Biedl syndrome 1 [ Callithrix jacchus (white-tufted-ear marmoset) ]

Gene ID: 100895722, updated on 3-Apr-2024

Summary

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Gene symbol
BBS1
Gene description
Bardet-Biedl syndrome 1
See related
Ensembl:ENSCJAG00000032439
Gene type
protein coding
RefSeq status
MODEL
Organism
Callithrix jacchus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Platyrrhini; Cebidae; Callitrichinae; Callithrix; Callithrix
Orthologs
human mouse all
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Genomic context

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See BBS1 in Genome Data Viewer
Location:
chromosome: 11
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_03 current mCalJa1.2.pat.X (GCF_011100555.1) 11 NC_071452.1 (120346847..120367361)
105 previous assembly Callithrix_jacchus_cj1700_1.1 (GCF_009663435.1) 11 NC_048393.1 (121537303..121557829)

Chromosome 11 - NC_071452.1Genomic Context describing neighboring genes Neighboring gene pellino E3 ubiquitin protein ligase family member 3 Neighboring gene dipeptidyl peptidase 3 Neighboring gene uncharacterized LOC103796401 Neighboring gene zinc finger DHHC-type containing 24 Neighboring gene U6 spliceosomal RNA Neighboring gene actinin alpha 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. De novo assembly of the common marmoset transcriptome from NextGen mRNA sequences. Maudhoo MD, et al. Gigascience, 2014. PMID 25243066, Free PMC Article

GeneRIFs: Gene References Into Functions

General gene information

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Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables patched binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables smoothened binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in non-motile cilium assembly IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in protein localization to cilium IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
part_of BBSome IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in axoneme IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in centrosome IEA
Inferred from Electronic Annotation
more info
 PubMed 

General protein information

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Preferred Names
Bardet-Biedl syndrome 1 protein

NCBI Reference Sequences (RefSeq)

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RefSeqs of Annotated Genomes: GCF_011100555.1-RS_2023_03

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

Reference mCalJa1.2.pat.X

Genomic

  1. NC_071452.1 Reference mCalJa1.2.pat.X

    Range
    120346847..120367361
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_009008522.4 → XP_009006770.2  Bardet-Biedl syndrome 1 protein isoform X1

  2. XM_009008524.4 → XP_009006772.2  Bardet-Biedl syndrome 1 protein isoform X3

  3. XM_009008523.4 → XP_009006771.1  Bardet-Biedl syndrome 1 protein isoform X2

    UniProtKB/TrEMBL
    F7IDY6, F7IDY9
    Related
    ENSCJAP00000002591.2
    Conserved Domains (1) summary
    pfam14779
    Location:23 → 276
    BBS1; Ciliary BBSome complex subunit 1

  4. XM_035263410.2 → XP_035119301.1  Bardet-Biedl syndrome 1 protein isoform X4

    UniProtKB/TrEMBL
    F7IDY6
    Conserved Domains (1) summary
    pfam14779
    Location:23 → 276
    BBS1; Ciliary BBSome complex subunit 1

  5. XM_054241080.1 → XP_054097055.1  Bardet-Biedl syndrome 1 protein isoform X5

Nucleotide Protein
Heading Accession and Version

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