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Protein

Bardet-Biedl syndrome 1 protein

Gene

BBS1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<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

The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization (PubMed:17574030, PubMed:22072986). Plays a role in olfactory cilium biogenesis/maintenance and trafficking (By similarity).By similarity2 Publications

<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 - Molecular functioni

GO - Biological processi

<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>Keywordsi

Biological processCilium biogenesis/degradation, Olfaction, Protein transport, Sensory transduction, Transport, Vision

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-5620922 BBSome-mediated cargo-targeting to cilium

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Bardet-Biedl syndrome 1 protein
Alternative name(s):
BBS2-like protein 2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:BBS1
Synonyms:BBS2L2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000174483.19

Human Gene Nomenclature Database

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HGNCi
HGNC:966 BBS1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
209901 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_Q8NFJ9

<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

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell membrane, Cell projection, Cilium, Cytoplasm, Cytoskeleton, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Ciliary dysfunction leads to a broad spectrum of disorders, collectively termed ciliopathies. Overlapping clinical features include retinal degeneration, renal cystic disease, skeletal abnormalities, fibrosis of various organ, and a complex range of anatomical and functional defects of the central and peripheral nervous system. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, nephronophtisis, Senior-Loken syndrome, and Jeune asphyxiating thoracic dystrophy among others. Single-locus allelism is insufficient to explain the variable penetrance and expressivity of such disorders, leading to the suggestion that variations across multiple sites of the ciliary proteome, including BBS1, influence the clinical outcome.
Bardet-Biedl syndrome 1 (BBS1)8 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
See also OMIM:209900
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_03888035H → R in BBS1. 1 PublicationCorresponds to variant dbSNP:rs775990952Ensembl.1
Natural variantiVAR_03888153K → E in BBS1. 1 PublicationCorresponds to variant dbSNP:rs766602837EnsemblClinVar.1
Natural variantiVAR_038882148D → N in BBS1. 1 PublicationCorresponds to variant dbSNP:rs200688985Ensembl.1
Natural variantiVAR_038883160R → Q in BBS1. 2 PublicationsCorresponds to variant dbSNP:rs376894444EnsemblClinVar.1
Natural variantiVAR_017214200 – 201Missing in BBS1. 1 Publication2
Natural variantiVAR_017215234E → K in BBS1. 2 PublicationsCorresponds to variant dbSNP:rs35520756EnsemblClinVar.1
Natural variantiVAR_038884305G → S in BBS1. 1 PublicationCorresponds to variant dbSNP:rs942862410Ensembl.1
Natural variantiVAR_066278330I → T in BBS1. 1 Publication1
Natural variantiVAR_038885389Missing in BBS1. 1 Publication1
Natural variantiVAR_017216390M → R in BBS1. 7 PublicationsCorresponds to variant dbSNP:rs113624356EnsemblClinVar.1
Natural variantiVAR_038886434Y → S in BBS1. 1
Natural variantiVAR_038887503L → H in BBS1. 1 PublicationCorresponds to variant dbSNP:rs778225393Ensembl.1
Natural variantiVAR_017217518L → P in BBS1. 2 PublicationsCorresponds to variant dbSNP:rs121917778EnsemblClinVar.1
Natural variantiVAR_038888518L → Q in BBS1. 1 Publication1
Natural variantiVAR_066279524Missing in BBS1. 1 Publication1

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Mental retardation, Obesity

Organism-specific databases

DisGeNET

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DisGeNETi
582

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
BBS1

MalaCards human disease database

More...
MalaCardsi
BBS1
MIMi209900 phenotype

Open Targets

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OpenTargetsi
ENSG00000174483
ENSG00000256349

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
110 Bardet-Biedl syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA25275

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
BBS1

Domain mapping of disease mutations (DMDM)

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DMDMi
38257662

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section indicates that the initiator methionine is cleaved from the mature protein.<p><a href='/help/init_met' target='_top'>More...</a></p>Initiator methionineiRemovedCombined sources
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00000648412 – 593Bardet-Biedl syndrome 1 proteinAdd BLAST592

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei2N-acetylalanineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8NFJ9

MaxQB - The MaxQuant DataBase

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MaxQBi
Q8NFJ9

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q8NFJ9

PeptideAtlas

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PeptideAtlasi
Q8NFJ9

PRoteomics IDEntifications database

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PRIDEi
Q8NFJ9

ProteomicsDB human proteome resource

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ProteomicsDBi
73319
73320 [Q8NFJ9-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q8NFJ9

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
Q8NFJ9

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Highly expressed in the kidney. Also found in fetal tissue, testis, retina, adipose tissue, heart, skeletal muscle and pancreas.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000174483 Expressed in 93 organ(s), highest expression level in right uterine tube

CleanEx database of gene expression profiles

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CleanExi
HS_BBS1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8NFJ9 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q8NFJ9 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA058283

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8/TTC8, BBS9 and BBIP10. Interacts with the C-terminus of RAB3IP. Interacts with CCDC28B and ALDOB. Interacts with PKD1 (PubMed:24939912).5 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
107058, 47 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1908 BBSome complex

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
Q8NFJ9

Database of interacting proteins

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DIPi
DIP-46564N

Protein interaction database and analysis system

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IntActi
Q8NFJ9, 41 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000317469

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
Q8NFJ9

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
Q8NFJ9

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<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

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IG3X Eukaryota
ENOG410Y9JX LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000005232

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000260890

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG045407

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8NFJ9

KEGG Orthology (KO)

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KOi
K16746

Identification of Orthologs from Complete Genome Data

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OMAi
HADRRHY

Database of Orthologous Groups

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OrthoDBi
EOG091G08R8

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8NFJ9

TreeFam database of animal gene trees

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TreeFami
TF312892

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR028784 BBS1
IPR032728 BBS1_N
IPR011047 Quinoprotein_ADH-like_supfam

The PANTHER Classification System

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PANTHERi
PTHR20870 PTHR20870, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF14779 BBS1, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50998 SSF50998, 1 hit

<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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 7 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8NFJ9-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MAAASSSDSD ACGAESNEAN SKWLDAHYDP MANIHTFSAC LALADLHGDG
60 70 80 90 100
EYKLVVGDLG PGGQQPRLKV LKGPLVMTES PLPALPAAAA TFLMEQHEPR
110 120 130 140 150
TPALALASGP CVYVYKNLRP YFKFSLPQLP PNPLEQDLWN QAKEDRIDPL
160 170 180 190 200
TLKEMLESIR ETAEEPLSIQ SLRFLQLELS EMEAFVNQHK SNSIKRQTVI
210 220 230 240 250
TTMTTLKKNL ADEDAVSCLV LGTENKELLV LDPEAFTILA KMSLPSVPVF
260 270 280 290 300
LEVSGQFDVE FRLAAACRNG NIYILRRDSK HPKYCIELSA QPVGLIRVHK
310 320 330 340 350
VLVVGSTQDS LHGFTHKGKK LWTVQMPAAI LTMNLLEQHS RGLQAVMAGL
360 370 380 390 400
ANGEVRIYRD KALLNVIHTP DAVTSLCFGR YGREDNTLIM TTRGGGLIIK
410 420 430 440 450
ILKRTAVFVE GGSEVGPPPA QAMKLNVPRK TRLYVDQTLR EREAGTAMHR
460 470 480 490 500
AFQTDLYLLR LRAARAYLQA LESSLSPLST TAREPLKLHA VVQGLGPTFK
510 520 530 540 550
LTLHLQNTST TRPVLGLLVC FLYNEALYSL PRAFFKVPLL VPGLNYPLET
560 570 580 590
FVESLSNKGI SDIIKVLVLR EGQSAPLLSA HVNMPGSEGL AAA
Length:593
Mass (Da):65,083
Last modified:October 1, 2002 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i94C0C05667FE582D
GO
Isoform 3 (identifier: Q8NFJ9-2) [UniParc]FASTAAdd to basket
Also known as: DPP3-BBS1

The sequence of this isoform differs from the canonical sequence as follows:
     1-16: MAAASSSDSDACGAES → MDPSWRRSSHSWPQPMPDSGRAPVRPHLAKLEEDVWPCPQFHQTKAASGPPFV

Note: Based on a readthrough transcript which may produce a DPP3-BBS1 fusion protein. No experimental confirmation available.
Show »
Length:630
Mass (Da):69,658
Checksum:i0226F9D57F35804D
GO
Isoform 2 (identifier: Q8NFJ9-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     242-370: Missing.
     567-593: LVLREGQSAPLLSAHVNMPGSEGLAAA → GPALVPRGR

Note: No experimental confirmation available.
Show »
Length:446
Mass (Da):49,006
Checksum:iECADC15B2602C988
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 7 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PR55E9PR55_HUMAN
Bardet-Biedl syndrome 1 protein
BBS1
164Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E7EQH1E7EQH1_HUMAN
Bardet-Biedl syndrome 1 protein
BBS1
496Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PMB7E9PMB7_HUMAN
Bardet-Biedl syndrome 1 protein
BBS1
192Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PQD9E9PQD9_HUMAN
Bardet-Biedl syndrome 1 protein
BBS1
54Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PPR3E9PPR3_HUMAN
Bardet-Biedl syndrome 1 protein
BBS1
66Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PJ28E9PJ28_HUMAN
Bardet-Biedl syndrome 1 protein
BBS1
85Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PQK2E9PQK2_HUMAN
Bardet-Biedl syndrome 1 protein
BBS1
55Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03888035H → R in BBS1. 1 PublicationCorresponds to variant dbSNP:rs775990952Ensembl.1
Natural variantiVAR_03888153K → E in BBS1. 1 PublicationCorresponds to variant dbSNP:rs766602837EnsemblClinVar.1
Natural variantiVAR_038882148D → N in BBS1. 1 PublicationCorresponds to variant dbSNP:rs200688985Ensembl.1
Natural variantiVAR_038883160R → Q in BBS1. 2 PublicationsCorresponds to variant dbSNP:rs376894444EnsemblClinVar.1
Natural variantiVAR_017214200 – 201Missing in BBS1. 1 Publication2
Natural variantiVAR_066485206L → V in a patient with Bardet-Biedl syndrome. 1 PublicationCorresponds to variant dbSNP:rs146052054EnsemblClinVar.1
Natural variantiVAR_017215234E → K in BBS1. 2 PublicationsCorresponds to variant dbSNP:rs35520756EnsemblClinVar.1
Natural variantiVAR_066486245P → L in a patient with Bardet-Biedl syndrome. 1 PublicationCorresponds to variant dbSNP:rs151203205Ensembl.1
Natural variantiVAR_038884305G → S in BBS1. 1 PublicationCorresponds to variant dbSNP:rs942862410Ensembl.1
Natural variantiVAR_066278330I → T in BBS1. 1 Publication1
Natural variantiVAR_038885389Missing in BBS1. 1 Publication1
Natural variantiVAR_017216390M → R in BBS1. 7 PublicationsCorresponds to variant dbSNP:rs113624356EnsemblClinVar.1
Natural variantiVAR_038886434Y → S in BBS1. 1
Natural variantiVAR_038887503L → H in BBS1. 1 PublicationCorresponds to variant dbSNP:rs778225393Ensembl.1
Natural variantiVAR_017217518L → P in BBS1. 2 PublicationsCorresponds to variant dbSNP:rs121917778EnsemblClinVar.1
Natural variantiVAR_038888518L → Q in BBS1. 1 Publication1
Natural variantiVAR_066279524Missing in BBS1. 1 Publication1
Natural variantiVAR_065554559G → D in a patient with Meckel-Gruber like syndrome also carrying L-753 in TTC21B and a variant in CC2D2A. 1 PublicationCorresponds to variant dbSNP:rs544767888Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting. The information stored in this subsection is used to automatically construct alternative protein sequence(s) for display.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0088541 – 16MAAAS…CGAES → MDPSWRRSSHSWPQPMPDSG RAPVRPHLAKLEEDVWPCPQ FHQTKAASGPPFV in isoform 3. 2 PublicationsAdd BLAST16
Alternative sequenceiVSP_054152242 – 370Missing in isoform 2. CuratedAdd BLAST129
Alternative sequenceiVSP_054153567 – 593LVLRE…GLAAA → GPALVPRGR in isoform 2. CuratedAdd BLAST27

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF503941 mRNA Translation: AAM92770.1
AK027645 mRNA Translation: BAB55261.1
AP002748 Genomic DNA No translation available.
BC109064 mRNA Translation: AAI09065.1
BC109065 mRNA Translation: AAI09066.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS8142.1 [Q8NFJ9-1]

NCBI Reference Sequences

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RefSeqi
NP_078925.3, NM_024649.4 [Q8NFJ9-1]

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.502915

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000318312; ENSP00000317469; ENSG00000174483 [Q8NFJ9-1]
ENST00000393994; ENSP00000377563; ENSG00000174483 [Q8NFJ9-3]

Database of genes from NCBI RefSeq genomes

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GeneIDi
582

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:582

UCSC genome browser

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UCSCi
uc001oij.2 human [Q8NFJ9-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<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

<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

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Mutations of the BBS1 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF503941 mRNA Translation: AAM92770.1
AK027645 mRNA Translation: BAB55261.1
AP002748 Genomic DNA No translation available.
BC109064 mRNA Translation: AAI09065.1
BC109065 mRNA Translation: AAI09066.1
CCDSiCCDS8142.1 [Q8NFJ9-1]
RefSeqiNP_078925.3, NM_024649.4 [Q8NFJ9-1]
UniGeneiHs.502915

3D structure databases

ProteinModelPortaliQ8NFJ9
SMRiQ8NFJ9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107058, 47 interactors
ComplexPortaliCPX-1908 BBSome complex
CORUMiQ8NFJ9
DIPiDIP-46564N
IntActiQ8NFJ9, 41 interactors
STRINGi9606.ENSP00000317469

PTM databases

iPTMnetiQ8NFJ9
PhosphoSitePlusiQ8NFJ9

Polymorphism and mutation databases

BioMutaiBBS1
DMDMi38257662

Proteomic databases

EPDiQ8NFJ9
MaxQBiQ8NFJ9
PaxDbiQ8NFJ9
PeptideAtlasiQ8NFJ9
PRIDEiQ8NFJ9
ProteomicsDBi73319
73320 [Q8NFJ9-2]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000318312; ENSP00000317469; ENSG00000174483 [Q8NFJ9-1]
ENST00000393994; ENSP00000377563; ENSG00000174483 [Q8NFJ9-3]
GeneIDi582
KEGGihsa:582
UCSCiuc001oij.2 human [Q8NFJ9-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
582
DisGeNETi582
EuPathDBiHostDB:ENSG00000174483.19

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BBS1
GeneReviewsiBBS1
HGNCiHGNC:966 BBS1
HPAiHPA058283
MalaCardsiBBS1
MIMi209900 phenotype
209901 gene
neXtProtiNX_Q8NFJ9
OpenTargetsiENSG00000174483
ENSG00000256349
Orphaneti110 Bardet-Biedl syndrome
PharmGKBiPA25275

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IG3X Eukaryota
ENOG410Y9JX LUCA
GeneTreeiENSGT00390000005232
HOGENOMiHOG000260890
HOVERGENiHBG045407
InParanoidiQ8NFJ9
KOiK16746
OMAiHADRRHY
OrthoDBiEOG091G08R8
PhylomeDBiQ8NFJ9
TreeFamiTF312892

Enzyme and pathway databases

ReactomeiR-HSA-5620922 BBSome-mediated cargo-targeting to cilium

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
BBS1 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
BBS1

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
582

Protein Ontology

More...
PROi
PR:Q8NFJ9

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000174483 Expressed in 93 organ(s), highest expression level in right uterine tube
CleanExiHS_BBS1
ExpressionAtlasiQ8NFJ9 baseline and differential
GenevisibleiQ8NFJ9 HS

Family and domain databases

InterProiView protein in InterPro
IPR028784 BBS1
IPR032728 BBS1_N
IPR011047 Quinoprotein_ADH-like_supfam
PANTHERiPTHR20870 PTHR20870, 1 hit
PfamiView protein in Pfam
PF14779 BBS1, 1 hit
SUPFAMiSSF50998 SSF50998, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

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

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiBBS1_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8NFJ9
Secondary accession number(s): Q32MM9, Q32MN0, Q96SN4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 7, 2003
Last sequence update: October 1, 2002
Last modified: November 7, 2018
This is version 136 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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