Zgc:136718

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processⁱ

• actin filament organization Source: ZFIN <p>Inferred from Genetic Interaction</p> <p>Used to describe "traditional" genetic interactions such as suppressors and synthetic lethals as well as other techniques such as functional complementation, rescue experiments, or inferences about a gene drawn from the phenotype of a mutation in a different gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#igi">GO evidence code guide</a></p> Inferred from genetic interactionⁱ
  • "Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish."
    May-Simera H.L., Kai M., Hernandez V., Osborn D.P., Tada M., Beales P.L.
    Dev Biol 345:215-225(2010) [PubMed] [Europe PMC] [Abstract]
• cilium assembly Source: ZFIN <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish."
    May-Simera H.L., Kai M., Hernandez V., Osborn D.P., Tada M., Beales P.L.
    Dev Biol 345:215-225(2010) [PubMed] [Europe PMC] [Abstract]
• convergent extension Source: ZFINInferred from mutant phenotypeⁱ
  • "Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish."
    May-Simera H.L., Kai M., Hernandez V., Osborn D.P., Tada M., Beales P.L.
    Dev Biol 345:215-225(2010) [PubMed] [Europe PMC] [Abstract]
• gastrulation Source: ZFINInferred from mutant phenotypeⁱ
  • "Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome."
    Zaghloul N.A., Liu Y., Gerdes J.M., Gascue C., Oh E.C., Leitch C.C., Bromberg Y., Binkley J., Leibel R.L., Sidow A., Badano J.L., Katsanis N.
    Proc Natl Acad Sci U S A 107:10602-10607(2010) [PubMed] [Europe PMC] [Abstract]
• heart looping Source: ZFINInferred from mutant phenotypeⁱ
  • "Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function."
    Yen H.J., Tayeh M.K., Mullins R.F., Stone E.M., Sheffield V.C., Slusarski D.C.
    Hum Mol Genet 15:667-677(2006) [PubMed] [Europe PMC] [Abstract]
• intracellular transport Source: ZFINInferred from mutant phenotypeⁱ
  • "Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function."
    Yen H.J., Tayeh M.K., Mullins R.F., Stone E.M., Sheffield V.C., Slusarski D.C.
    Hum Mol Genet 15:667-677(2006) [PubMed] [Europe PMC] [Abstract]
• Kupffer's vesicle development Source: ZFINInferred from mutant phenotypeⁱ
  • "Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function."
    Yen H.J., Tayeh M.K., Mullins R.F., Stone E.M., Sheffield V.C., Slusarski D.C.
    Hum Mol Genet 15:667-677(2006) [PubMed] [Europe PMC] [Abstract]
• left/right pattern formation Source: ZFINInferred from mutant phenotypeⁱ
  • "Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish."
    May-Simera H.L., Kai M., Hernandez V., Osborn D.P., Tada M., Beales P.L.
    Dev Biol 345:215-225(2010) [PubMed] [Europe PMC] [Abstract]
• melanosome transport Source: ZFINInferred from mutant phenotypeⁱ
  • "Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function."
    Yen H.J., Tayeh M.K., Mullins R.F., Stone E.M., Sheffield V.C., Slusarski D.C.
    Hum Mol Genet 15:667-677(2006) [PubMed] [Europe PMC] [Abstract]
• neural crest cell migration Source: ZFINInferred from mutant phenotypeⁱ
  • "Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome."
    Tobin J.L., Di Franco M., Eichers E., May-Simera H., Garcia M., Yan J., Quinlan R., Justice M.J., Hennekam R.C., Briscoe J., Tada M., Mayor R., Burns A.J., Lupski J.R., Hammond P., Beales P.L.
    Proc Natl Acad Sci U S A 105:6714-6719(2008) [PubMed] [Europe PMC] [Abstract]
• non-motile cilium assembly Source: InterPro
• otolith development Source: ZFINInferred from mutant phenotypeⁱ
  • "Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish."
    May-Simera H.L., Kai M., Hernandez V., Osborn D.P., Tada M., Beales P.L.
    Dev Biol 345:215-225(2010) [PubMed] [Europe PMC] [Abstract]
• pigment granule aggregation in cell center Source: ZFINInferred from mutant phenotypeⁱ
  • "Bardet-Biedl syndrome genes are important in retrograde intracellular trafficking and Kupffer's vesicle cilia function."
    Yen H.J., Tayeh M.K., Mullins R.F., Stone E.M., Sheffield V.C., Slusarski D.C.
    Hum Mol Genet 15:667-677(2006) [PubMed] [Europe PMC] [Abstract]

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

• UniProt annotation
• GO - Cellular component

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

Domains and Repeats

Region

Compositional bias

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

        10         20         30         40         50
MEVTVSMDPL FLAWSSCRRR RFQRCADICS TLLAESPYDQ AVWSLKTRAL 
        60         70         80         90        100
TEMVYIDEVE VEQEGIADMM LDESSIAQVA RPGTSLRRPA TSQAGAPTPA 
       110        120        130        140        150
VRPMTQSGRP ITGFVRPSTL SGRPETMEQA IRTPRTASTA RPVSSASGRF 
       160        170        180        190        200
VRLGTASMLT HPDGPFINLS RLNLAKYAKR PNLCKTLFEY IFHHENDVKT 
       210        220        230        240        250
ALDLAALATE HAQFKDWWWK VQLGKCYYRL GLLREAEKQF RSALAQQEFV 
       260        270        280        290        300
DTHLYLAKVY QRLDQPITAL TVFKQGLDHF PAEVTLLTGI ARIHEEMNNM 
       310        320        330        340        350
SSATEYYREV LKQDNTHVEA IACIGSTHFY TDQPEIALRF YRRLLQMGVF 
       360        370        380        390        400
NCQLYNNLGL CCFYAQQYDM SLSCLERALA LVSGDEEQAD VWYNLGHVAV 
       410        420        430        440        450
GIGDLTLAYQ CFKLSLAFNN NHGEAYNNLA VLELRKGHIE QAKAFLQTAA 
       460        470        480        490        500
SLSPHMYEPH YNYATLSDKV GDLQSSFTAA QKSEDAFPEH VDTQQILRSL 

RQHFSSL                                                

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ