Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | BBS1 | contributors: mct/npt - updated : 15-12-2020 |
HGNC name | Bardet-Biedl syndrome 1 |
HGNC id | 966 |
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Corresponding disease |
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Location | 11q13.2 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) |
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10 Kb 5' upstream gene genomic sequence study |
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MAPPING | cloned | Y | linked | N | status | confirmed |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | ubiquitous |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
organ(s) |
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cells |
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cell lineage
cell lines
| fluid/secretion
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at STAGE |
physiological period | fetal |
Text | testis, retina, adipose tissue |
PROTEIN |
PHYSICAL PROPERTIES
STRUCTURE
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motifs/domains
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HOMOLOGY |
interspecies | homolog to rattus Bbs1 (91.72 pc) |
homolog to murine Bbs1 (92.24 pc) |
Homologene |
FAMILY |
CATEGORY | regulatory |
SUBCELLULAR LOCALIZATION
| plasma membrane |
| intracellular |
intracellular,cytoplasm,cytoskeleton,microtubule,centrosome | |
text | |
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basic FUNCTION | |
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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 | |
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cell & other |
REGULATION |
ASSOCIATED DISORDERS |
corresponding disease(s) | BBS1 |
related resource | Retinal Information Network |
Susceptibility |
Variant & Polymorphism
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Candidate gene
Marker
| Therapy target
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ANIMAL & CELL MODELS |
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