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FLASH GENE
Symbol BBS1 contributors: mct/npt - updated : 06-07-2009
HGNC name Bardet-Biedl syndrome 1
HGNC id 966
Corresponding disease
BBS1 Bardet-Biedl syndrome 1
Location 11q13.1      Physical location : 66.278.118 - 66.301.084
Synonym name BBS2-like protein 2
Synonym symbol(s) FLJ23590, BBS2L2, MGC126183, MGC126184, MGC51114
DNA
TYPE functioning gene
STRUCTURE 22.97 kb     17 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked N status confirmed
Physical map
KLC2 11q13.1 hypothetical protein FLJ22531 RAB1B 11q12 RAB1B, member RAS oncogene family MGC50896 11q13.1 hypothetical protein MGC50896 YIF1 11q13 Yip1 interacting factor homolog (S. cerevisiae) MGC33486 11q13.1 hypothetical protein MGC33486 LOC387783 11 LOC387783 CD164L1 11q13 CD164 sialomucin-like 1 RIN1 11q13.2 Ras and Rab interactor 1 BRMS1 14q13.1 breast cancer metastasis-suppressor 1 B3GNT6 11q13.1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 SLC29A2 11q13 solute carrier family 29 (nucleoside transporters), member 2 LOC387784 11 LOC387784 NXF 11q13 HLH-PAS transcription factor NXF MRPL11 11q13.3 mitochondrial ribosomal protein L11 MGC35521 11q13.1 pellino 3 alpha DPP3 11q12-q13.1 dipeptidylpeptidase 3 BBS1 11q13 Bardet-Biedl syndrome 1 LOC254359 11q13.1 hypothetical protein LOC254359 ACTN3 11q13 actinin, alpha 3 CTSF 11q13.1-q13.3 cathepsin F FLJ10786 11q13.1 hypothetical protein FLJ10786 CCS 11q13 copper chaperone for superoxide dismutase RBM14 11q12.1 RNA binding motif protein 14 MGC15912 11q13.1 hypothetical protein MGC15912 RBM4 11q13 RNA binding motif protein 4 MGC10871 11q13 hypothetical protein similar to RNA-binding protein lark SPTBN2 11q13 spectrin, beta, non-erythrocytic 2 FLJ22531 11q13.1 hypothetical protein FLJ22531
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
17 - 3370 65 593 - Oeffner (2008)
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Endocrinepancreasislet of Langerhans  moderately
Nervousbrainhindbrainmedulla oblongata highly
 braindiencephalonhypothalamus highly
 nervecranial nerveoptic nerve highly
Respiratorylung   moderately
Urinarykidney   highly
Visualeyeretina  moderately
 eyeanterior segmentiris moderately
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Epithelialbarrier liningretinal pigment epithelium (RPE) moderately
Nervousperipherous  highly
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousoptic nerve
Respiratoryciliari cell
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period fetal
Text testis, retina, adipose tissue
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • HELLGH motif
  • HOMOLOGY
    interspecies homolog to rattus Bbs1 (91.72 pc)
    homolog to murine Bbs1 (92.24 pc)
    Homologene
    FAMILY
    CATEGORY regulatory
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,cytoskeleton,microtubule,centrosome
    text
  • olfactory cilia
  • located in the neighborhood of primary cilia, including the basal body, the ciliary axoneme, and the pericentriolar region
  • basic FUNCTION
  • required for the localization of G protein-coupled receptors to primary cilia on central neurons
  • may be playing a role in eye, limb, cardiac and reproductive system development
  • playing a role in planar cell polarity
  • involved in retrograde intracellular trafficking of membrane-bound vesicles and organelles
  • playing a role in both the structure and function of motile cilia
  • mediate LEPR trafficking and impaired LEPR signaling underlies energy imbalance in the disease (Seo 2009)
  • play a central role in the regulation of the actin cytoskeleton and control the cilia length through alteration of RHOA levels
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling sensory transduction/vision
    a component part of complex composed of seven highly conserved BBS proteins, the BBSome, localized to nonmembranous centriolar satellites in the cytoplasm but also to the membrane of the cilium (Nachury 2007)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with VANGL2
  • interacting with EPAS1, ALDOB, EXOC7, FLOT1, KRT18, PAX2 (Oeffner 2008)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) BBS1
    related resource Retinal Information Network
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS