ENSDARG00000075169


Danio rerio

Features
Gene ID: ENSDARG00000075169
  
Biological name :bbs1
  
Synonyms : Bardet-Biedl syndrome 1 / bbs1
  
Possible biological names infered from orthology : AP002748.4 / Bardet-Biedl syndrome 1 protein homolog / Q3V3N7 / Q8NFJ9
  
Species: Danio rerio
  
Chr. number: 21
Strand: 1
Band:
Gene start: 27464538
Gene end: 27481382
  
Corresponding Affymetrix probe sets:
  
Cross references: Ensembl peptide - ENSDARP00000104106
NCBI entrez gene - 568986     See in Manteia.
RefSeq - NM_001098251
RefSeq Peptide - NP_001091721
swissprot - B3DFT2
ZFIN ID - ZDB-GENE-060126-1
Ensembl - ENSDARG00000075169
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 AP002748.4ENSG00000256349Homo sapiens
 BBS1ENSG00000174483Homo sapiens
 Bbs1ENSMUSG00000006464Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR011047  Quinoprotein alcohol dehydrogenase-like superfamily
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR028784  Bardet-Biedl syndrome 1 protein
 IPR032728  Bardet-Biedl syndrome 1, N-terminal


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001947 heart looping IMP
 biological_processGO:0003341 cilium movement IMP
 biological_processGO:0007368 determination of left/right symmetry IMP
 biological_processGO:0007369 gastrulation IMP
 biological_processGO:0008593 regulation of Notch signaling pathway IMP
 biological_processGO:0032402 melanosome transport IMP
 biological_processGO:0033339 pectoral fin development IMP
 biological_processGO:0060026 convergent extension IMP
 biological_processGO:0060027 convergent extension involved in gastrulation IMP
 biological_processGO:0060028 convergent extension involved in axis elongation IMP
 biological_processGO:0060271 cilium assembly IBA
 biological_processGO:0060972 left/right pattern formation IMP
 biological_processGO:0061469 regulation of type B pancreatic cell proliferation IMP
 biological_processGO:0061512 protein localization to cilium IBA
 biological_processGO:0070121 Kupffer"s vesicle development IMP
 biological_processGO:1905515 non-motile cilium assembly IEA
 cellular_componentGO:0005813 centrosome IBA
 cellular_componentGO:0005930 axoneme IBA
 cellular_componentGO:0034464 BBSome IBA
 cellular_componentGO:0036064 ciliary basal body IBA
 molecular_functionGO:0005113 patched binding IBA
 molecular_functionGO:0005119 smoothened binding IBA


Pathways (from Reactome)
Pathway description
BBSome-mediated cargo-targeting to cilium


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 ZFA:0000001 Kupffer s vesicle Kupffers vesicle decreased size , abnormal
Kupffers vesicle aplastic , abnormal
Kupffers vesicle morphology , abnormal
Show

 ZFA:0000008 brain brain hydrocephalic , abnormal
Show

 ZFA:0000092 axis axis shortened , abnormal
Show

 ZFA:0000107 eye eye decreased size , abnormal
Show

 ZFA:0000130 olfactory pit olfactory pit cilium decreased mobility , abnormal
Show

 ZFA:0000135 notochord notochord kinked , abnormal
notochord increased width , abnormal
Show

 ZFA:0000151 pronephros pronephros cystic , abnormal
Show

 ZFA:0000155 somite somite shape , abnormal
somite increased width , abnormal
somite broad , abnormal
somite increased length , abnormal
somite amorphous , abnormal
Show

 ZFA:0001094 whole organism whole organism anterior-posterior axis decreased length , abnormal
whole organism decreased length , abnormal
whole organism lacks all parts of type optic vesicle , abnormal
whole organism increased amount , abnormal
whole organism decreased amount , abnormal
Show

 ZFA:0001114 head head decreased size , abnormal
Show

 ZFA:0001115 trunk trunk curved , abnormal
Show

 ZFA:0001249 exocrine pancreas exocrine pancreas decreased area , abnormal
Show

 ZFA:0001390 pancreatic bud pancreatic bud decreased amount , abnormal
Show

 ZFA:0001455 scapulocoracoid scapulocoracoid morphology , abnormal
scapulocoracoid increased size , abnormal
scapulocoracoid increased thickness , abnormal
Show

 ZFA:0001462 somite border somite border amorphous , abnormal
Show

 ZFA:0001558 pronephric tubule pronephric tubule cilium increased length , abnormal
pronephric tubule cilium decreased mobility , abnormal
Show

 ZFA:0001620 pronephric proximal convoluted tubule pronephric proximal convoluted tubule morphology , abnormal
Show

 ZFA:0005743 pancreatic D cell pancreatic D cell decreased amount , abnormal
Show

 ZFA:0005781 cloaca cloaca cilium decreased mobility , abnormal
Show

 ZFA:0009102 pancreatic B cell pancreatic B cell amount , ameliorated
pancreatic B cell increased amount , abnormal
pancreatic B cell apoptotic , abnormal
pancreatic B cell proliferative , abnormal
pancreatic B cell cell proliferation increased occurrence , abnormal
pancreatic B cell increased area , abnormal
Show

 ZFA:0009104 pancreatic A cell pancreatic A cell decreased amount , abnormal
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

1 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr