BBS1

GENE INFORMATION

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Gene name

BBS1 (HGNC Symbol)

Synonyms

FLJ23590

Description

Bardet-Biedl syndrome 1 (HGNC Symbol)

Entrez gene summary

Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. [provided by RefSeq, Jul 2008]

Chromosome

11

Cytoband

q13.2

Chromosome location (bp)

66510606 - 66533627

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000174483 (version 78.38)

Entrez gene

582

UniProt

Q8NFJ9 (UniProt - Evidence at protein level)

neXtProt

NX_Q8NFJ9

Antibodypedia

BBS1 antibodies
 

PROTEIN VIEW

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BBS1-001
 
BBS1-006
 
BBS1-009
 
BBS1-013
 
BBS1-014
 
BBS1-019
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

BBS1-001 ENSP00000317469
ENST00000318312
Q8NFJ9
Show all »
Show » Show » 593 65.1 No 0
BBS1-006 ENSP00000405764
ENST00000455748
E7EQH1
Show all »
Show » Show » 496 54.1 No 0
BBS1-009 ENSP00000377563
ENST00000393994
Q8NFJ9
Show all »
Show » Show » 446 49 No 0
BBS1-013 ENSP00000436860
ENST00000526815
E9PQD9
Show all »
Show » Show » 54 5.6 No 0
BBS1-014 ENSP00000431187
ENST00000525809
E9PMB7
Show all »
Show » Show » 192 21.3 No 0
BBS1-019 ENSP00000436927
ENST00000524705
E9PPR3
Show all »
Show » Show » 67 7.8 No 0