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BBS1 Bardet-Biedl syndrome 1 [ Panthera pardus (leopard) ]

Gene ID: 109246803, updated on 14-Mar-2024

Summary

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Gene symbol
BBS1
Gene description
Bardet-Biedl syndrome 1
See related
Ensembl:ENSPPRG00000006058
Gene type
protein coding
RefSeq status
MODEL
Organism
Panthera pardus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Carnivora; Feliformia; Felidae; Pantherinae; Panthera
Orthologs
human mouse all
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Genomic context

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Location:
chromosome: Un
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_02 current ASM2436296v1 (GCF_024362965.1) Unplaced Scaffold NW_026526677.1 (6221065..6241342, complement)
100 previous assembly PanPar1.0 (GCF_001857705.1) Unplaced Scaffold NW_017619909.1 (8255008..8278961)

NW_026526677.1Genomic Context describing neighboring genes Neighboring gene actinin alpha 3 Neighboring gene zinc finger DHHC-type containing 24 Neighboring gene dipeptidyl peptidase 3 Neighboring gene U6 spliceosomal RNA Neighboring gene pellino E3 ubiquitin protein ligase family member 3

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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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_024362965.1-RS_2023_02

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

Reference ASM2436296v1 Primary Assembly

Genomic

  1. NW_026526677.1 Reference ASM2436296v1 Primary Assembly

    Range
    6221065..6241342 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_019415075.2 → XP_019270620.2  Bardet-Biedl syndrome 1 protein isoform X2

    UniProtKB/TrEMBL
    A0A9V1DZ29

  2. XM_019415074.2 → XP_019270619.2  Bardet-Biedl syndrome 1 protein isoform X1

    UniProtKB/TrEMBL
    A0A9V1DZ14
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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