BBS1

GENERAL INFORMATION

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Gene name

BBS1

Gene description

Bardet-Biedl syndrome 1

Protein class

Cytoskeleton related proteins
Disease related genes
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

6
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

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

ANTIBODY RELIABILITY

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Data reliability
description

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

Data reliability

Uncertain based on 1 antibody.
HPA058283
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



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 BROWSER

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ENST00000318312
 
ENST00000393994
 
ENST00000455748
 
ENST00000524705
 
ENST00000525809
 
ENST00000526815
 
 
 
 


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