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BBS1

GENERAL INFORMATION

Gene name

 BBS1

Gene description

 Bardet-Biedl syndrome 1

Protein class

 Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Mixed
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Granular cytoplasmic expression in gastrointestinal tract, reproductive organs and respiratory tract.

DATA RELIABILITY

Data reliability
description

 Pending external verification. Caution, targets protein from more than one gene. Presumed off target binding observed and disregarded.

Reliability score

 Uncertain based on 1 antibody.
HPA058283
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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 83.38)

Entrez gene

 582

UniProt

 Q8NFJ9 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8NFJ9

Antibodypedia

 BBS1 antibodies

PROTEIN BROWSER
BBS1-001
BBS1-006
BBS1-009
BBS1-013
BBS1-014
BBS1-019
BBS1-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
BBS1-001
ENSP00000317469
ENST00000318312
Q8NFJ9 [Direct mapping]
Bardet-Biedl syndrome 1 protein
Show all
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Protein evidence (Kim et al 2014)
Show all
GO:0001103 [RNA polymerase II repressing transcription factor binding]
GO:0001895 [retina homeostasis]
GO:0005113 [patched binding]
GO:0005119 [smoothened binding]
GO:0005515 [protein binding]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0005930 [axoneme]
GO:0006996 [organelle organization]
GO:0007601 [visual perception]
GO:0034464 [BBSome]
GO:0035058 [nonmotile primary cilium assembly]
GO:0036064 [ciliary basal body]
GO:0042384 [cilium assembly]
GO:0043001 [Golgi to plasma membrane protein transport]
GO:0045494 [photoreceptor cell maintenance]
GO:0050896 [response to stimulus]
GO:0060170 [ciliary membrane]
GO:0061512 [protein localization to cilium]
Show all
 593 aa
65.1 kDa 		No 0
BBS1-006
ENSP00000405764
ENST00000455748
E7EQH1 [Direct mapping]
Bardet-Biedl syndrome 1 protein
Show all
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Show all
GO:0005813 [centrosome]
GO:0005930 [axoneme]
GO:0034464 [BBSome]
GO:0035058 [nonmotile primary cilium assembly]
GO:0036064 [ciliary basal body]
Show all
 496 aa
54.1 kDa 		No 0
BBS1-009
ENSP00000377563
ENST00000393994
Q8NFJ9 [Direct mapping]
Bardet-Biedl syndrome 1 protein
Show all
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
Predicted intracellular proteins
Disease related genes
Show all
GO:0001103 [RNA polymerase II repressing transcription factor binding]
GO:0001895 [retina homeostasis]
GO:0005113 [patched binding]
GO:0005119 [smoothened binding]
GO:0005515 [protein binding]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0005930 [axoneme]
GO:0006996 [organelle organization]
GO:0007601 [visual perception]
GO:0034464 [BBSome]
GO:0035058 [nonmotile primary cilium assembly]
GO:0036064 [ciliary basal body]
GO:0042384 [cilium assembly]
GO:0043001 [Golgi to plasma membrane protein transport]
GO:0045494 [photoreceptor cell maintenance]
GO:0050896 [response to stimulus]
GO:0060170 [ciliary membrane]
GO:0061512 [protein localization to cilium]
Show all
 446 aa
49 kDa 		No 0
BBS1-013
ENSP00000436860
ENST00000526815
E9PQD9 [Direct mapping]
Bardet-Biedl syndrome 1 protein
Show all
Predicted intracellular proteins
Show all
GO:0005813 [centrosome]
GO:0005930 [axoneme]
GO:0034464 [BBSome]
GO:0035058 [nonmotile primary cilium assembly]
GO:0036064 [ciliary basal body]
Show all
 54 aa
5.6 kDa 		No 0
BBS1-014
ENSP00000431187
ENST00000525809
E9PMB7 [Direct mapping]
Bardet-Biedl syndrome 1 protein
Show all
Predicted intracellular proteins
Show all
GO:0005813 [centrosome]
GO:0005930 [axoneme]
GO:0034464 [BBSome]
GO:0035058 [nonmotile primary cilium assembly]
GO:0036064 [ciliary basal body]
Show all
 192 aa
21.3 kDa 		No 0
BBS1-019
ENSP00000436927
ENST00000524705
E9PPR3 [Direct mapping]
Bardet-Biedl syndrome 1 protein
Show all
Predicted intracellular proteins
Show all
GO:0005813 [centrosome]
GO:0005930 [axoneme]
GO:0034464 [BBSome]
GO:0035058 [nonmotile primary cilium assembly]
GO:0036064 [ciliary basal body]
Show all
 67 aa
7.8 kDa 		No 0
BBS1-201
ENSP00000486455
ENST00000630659
E9PJ28 [Direct mapping]
Bardet-Biedl syndrome 1 protein
Show all
Predicted intracellular proteins
Show all
GO:0005813 [centrosome]
GO:0005930 [axoneme]
GO:0036064 [ciliary basal body]
Show all
 85 aa
8.8 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.