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Entry version 153 (13 Nov 2019)
Sequence version 2 (07 Mar 2006)
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Protein

Bardet-Biedl syndrome 7 protein

Gene

BBS7

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.2 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, 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 7 protein
Alternative name(s):
BBS2-like protein 1
<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:BBS7
Synonyms:BBS2L1
<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 4

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:18758 BBS7

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607590 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IWZ6

<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 & Seán O’Donoghue; 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 BBS7, influence the clinical outcome.
Bardet-Biedl syndrome 7 (BBS7)4 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.
Related information in OMIM
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_06628663G → R in BBS7. 1 PublicationCorresponds to variant dbSNP:rs754579374Ensembl.1
Natural variantiVAR_03889366I → F in BBS7. 1 Publication1
Natural variantiVAR_017212211T → I in BBS7. 2 PublicationsCorresponds to variant dbSNP:rs119466002EnsemblClinVar.1
Natural variantiVAR_017213323H → R in BBS7. 1 PublicationCorresponds to variant dbSNP:rs119466001EnsemblClinVar.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
55212

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

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GeneReviewsi
BBS7

MalaCards human disease database

More...
MalaCardsi
BBS7
MIMi615984 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000138686

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

More...
Orphaneti
110 Bardet-Biedl syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134923753

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IWZ6

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BBS7

Domain mapping of disease mutations (DMDM)

More...
DMDMi
90110978

<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 ‘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_00000648461 – 715Bardet-Biedl syndrome 7 proteinAdd BLAST715

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 residuei1N-acetylmethionineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
Q8IWZ6

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q8IWZ6

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8IWZ6

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8IWZ6

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

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PaxDbi
Q8IWZ6

PeptideAtlas

More...
PeptideAtlasi
Q8IWZ6

PRoteomics IDEntifications database

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PRIDEi
Q8IWZ6

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
70943 [Q8IWZ6-1]
70944 [Q8IWZ6-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IWZ6

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

More...
PhosphoSitePlusi
Q8IWZ6

<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

Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000138686 Expressed in 201 organ(s), highest expression level in endothelial cell

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q8IWZ6 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IWZ6 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA044592

<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 BBS2 (via C-terminus).

Interacts with CCDC28B and ALDOB.

Interacts with SMO; the interaction is indicative for the association of SMO with the BBsome complex to facilitate ciliary localization of SMO.

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
120508, 64 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1908 BBSome complex

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q8IWZ6

Database of interacting proteins

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DIPi
DIP-46566N

Protein interaction database and analysis system

More...
IntActi
Q8IWZ6, 69 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000264499

<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

More...
eggNOGi
ENOG410IEV0 Eukaryota
ENOG410XSTP LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000012346

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000022374

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q8IWZ6

KEGG Orthology (KO)

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KOi
K16749

Identification of Orthologs from Complete Genome Data

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OMAi
TDLYVDW

Database of Orthologous Groups

More...
OrthoDBi
341332at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q8IWZ6

TreeFam database of animal gene trees

More...
TreeFami
TF315013

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR016575 Bardet-Biedl_syndrome_7_prot
IPR036322 WD40_repeat_dom_sf

PIRSF; a whole-protein classification database

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PIRSFi
PIRSF011091 BBS7, 1 hit

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF50978 SSF50978, 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>. 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>Sequences (2+)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.

This entry describes 2 <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 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q8IWZ6-1) [UniParc]FASTAAdd to basket
Also known as: Long, lBBS2L1

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali 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
MDLILNRMDY LQVGVTSQKT MKLIPASRHR ATQKVVIGDH DGVVMCFGMK
60 70 80 90 100
KGEAAAVFKT LPGPKIARLE LGGVINTPQE KIFIAAASEI RGFTKRGKQF
110 120 130 140 150
LSFETNLTES IKAMHISGSD LFLSASYIYN HYCDCKDQHY YLSGDKINDV
160 170 180 190 200
ICLPVERLSR ITPVLACQDR VLRVLQGSDV MYAVEVPGPP TVLALHNGNG
210 220 230 240 250
GDSGEDLLFG TSDGKLALIQ ITTSKPVRKW EIQNEKKRGG ILCIDSFDIV
260 270 280 290 300
GDGVKDLLVG RDDGMVEVYS FDNANEPVLR FDQMLSESVT SIQGGCVGKD
310 320 330 340 350
SYDEIVVSTY SGWVTGLTTE PIHKESGPGE ELKINQEMQN KISSLRNELE
360 370 380 390 400
HLQYKVLQER ENYQQSSQSS KAKSAVPSFG INDKFTLNKD DASYSLILEV
410 420 430 440 450
QTAIDNVLIQ SDVPIDLLDV DKNSAVVSFS SCDSESNDNF LLATYRCQAD
460 470 480 490 500
TTRLELKIRS IEGQYGTLQA YVTPRIQPKT CQVRQYHIKP LSLHQRTHFI
510 520 530 540 550
DHDRPMNTLT LTGQFSFAEV HSWVVFCLPE VPEKPPAGEC VTFYFQNTFL
560 570 580 590 600
DTQLESTYRK GEGVFKSDNI STISILKDVL SKEATKRKIN LNISYEINEV
610 620 630 640 650
SVKHTLKLIH PKLEYQLLLA KKVQLIDALK ELQIHEGNTN FLIPEYHCIL
660 670 680 690 700
EEADHLQEEY KKQPAHLERL YGMITDLFID KFKFKGTNVK TKVPLLLEIL
710
DSYDQNALIS FFDAA
Length:715
Mass (Da):80,353
Last modified:March 7, 2006 - v2
<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:iA7856647969713FF
GO
Isoform 2 (identifier: Q8IWZ6-2) [UniParc]FASTAAdd to basket
Also known as: Short, sBBS2L1

The sequence of this isoform differs from the canonical sequence as follows:
     673-715: Missing.

Show »
Length:672
Mass (Da):75,446
Checksum:i80A007A34EFE5D9B
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y973H0Y973_HUMAN
Bardet-Biedl syndrome 7 protein
BBS7
138Annotation 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>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti469Q → L in AAO16025 (PubMed:12567324).Curated1
Sequence conflicti469Q → L in AAO16026 (PubMed:12567324).Curated1
Sequence conflicti469Q → L in BAA91767 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06628663G → R in BBS7. 1 PublicationCorresponds to variant dbSNP:rs754579374Ensembl.1
Natural variantiVAR_03889366I → F in BBS7. 1 Publication1
Natural variantiVAR_017212211T → I in BBS7. 2 PublicationsCorresponds to variant dbSNP:rs119466002EnsemblClinVar.1
Natural variantiVAR_066459293Q → P Found in a patient with Bardet-Biedl syndrome also carrying a frameshift mutation in BBS10 and variant R-834 in KIF7. 1 PublicationCorresponds to variant dbSNP:rs889417696Ensembl.1
Natural variantiVAR_017213323H → R in BBS7. 1 PublicationCorresponds to variant dbSNP:rs119466001EnsemblClinVar.1
Natural variantiVAR_065555671Y → C in a patient with Meckel-Gruber like syndrome also carrying Y-60 in TTC21B. 1 PublicationCorresponds to variant dbSNP:rs1013002037Ensembl.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.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_008850673 – 715Missing in isoform 2. 3 PublicationsAdd BLAST43

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

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DDBJi
Links Updated
AF521643 mRNA Translation: AAO16025.1
AF521644 mRNA Translation: AAO16026.1
AK001577 mRNA Translation: BAA91767.1
AC079341 Genomic DNA Translation: AAY40970.1
BC032691 mRNA Translation: AAH32691.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS3724.1 [Q8IWZ6-1]
CCDS54799.1 [Q8IWZ6-2]

NCBI Reference Sequences

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RefSeqi
NP_060660.2, NM_018190.3 [Q8IWZ6-2]
NP_789794.1, NM_176824.2 [Q8IWZ6-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000264499; ENSP00000264499; ENSG00000138686 [Q8IWZ6-1]
ENST00000506636; ENSP00000423626; ENSG00000138686 [Q8IWZ6-2]

Database of genes from NCBI RefSeq genomes

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GeneIDi
55212

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:55212

UCSC genome browser

More...
UCSCi
uc003ied.4 human [Q8IWZ6-1]

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 BBS7 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF521643 mRNA Translation: AAO16025.1
AF521644 mRNA Translation: AAO16026.1
AK001577 mRNA Translation: BAA91767.1
AC079341 Genomic DNA Translation: AAY40970.1
BC032691 mRNA Translation: AAH32691.1
CCDSiCCDS3724.1 [Q8IWZ6-1]
CCDS54799.1 [Q8IWZ6-2]
RefSeqiNP_060660.2, NM_018190.3 [Q8IWZ6-2]
NP_789794.1, NM_176824.2 [Q8IWZ6-1]

3D structure databases

Database of comparative protein structure models

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ModBasei
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SWISS-MODEL Interactive Workspace

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SWISS-MODEL-Workspacei
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Protein-protein interaction databases

BioGridi120508, 64 interactors
ComplexPortaliCPX-1908 BBSome complex
CORUMiQ8IWZ6
DIPiDIP-46566N
IntActiQ8IWZ6, 69 interactors
STRINGi9606.ENSP00000264499

PTM databases

iPTMnetiQ8IWZ6
PhosphoSitePlusiQ8IWZ6

Polymorphism and mutation databases

BioMutaiBBS7
DMDMi90110978

Proteomic databases

EPDiQ8IWZ6
jPOSTiQ8IWZ6
MassIVEiQ8IWZ6
MaxQBiQ8IWZ6
PaxDbiQ8IWZ6
PeptideAtlasiQ8IWZ6
PRIDEiQ8IWZ6
ProteomicsDBi70943 [Q8IWZ6-1]
70944 [Q8IWZ6-2]

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
55212

Genome annotation databases

EnsembliENST00000264499; ENSP00000264499; ENSG00000138686 [Q8IWZ6-1]
ENST00000506636; ENSP00000423626; ENSG00000138686 [Q8IWZ6-2]
GeneIDi55212
KEGGihsa:55212
UCSCiuc003ied.4 human [Q8IWZ6-1]

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
55212
DisGeNETi55212

GeneCards: human genes, protein and diseases

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GeneCardsi
BBS7
GeneReviewsiBBS7
HGNCiHGNC:18758 BBS7
HPAiHPA044592
MalaCardsiBBS7
MIMi607590 gene
615984 phenotype
neXtProtiNX_Q8IWZ6
OpenTargetsiENSG00000138686
Orphaneti110 Bardet-Biedl syndrome
PharmGKBiPA134923753

GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410IEV0 Eukaryota
ENOG410XSTP LUCA
GeneTreeiENSGT00390000012346
HOGENOMiHOG000022374
InParanoidiQ8IWZ6
KOiK16749
OMAiTDLYVDW
OrthoDBi341332at2759
PhylomeDBiQ8IWZ6
TreeFamiTF315013

Enzyme and pathway databases

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

Miscellaneous databases

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
BBS7

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

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GenomeRNAii
55212
PharosiQ8IWZ6

Protein Ontology

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PROi
PR:Q8IWZ6

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000138686 Expressed in 201 organ(s), highest expression level in endothelial cell
ExpressionAtlasiQ8IWZ6 baseline and differential
GenevisibleiQ8IWZ6 HS

Family and domain databases

InterProiView protein in InterPro
IPR016575 Bardet-Biedl_syndrome_7_prot
IPR036322 WD40_repeat_dom_sf
PIRSFiPIRSF011091 BBS7, 1 hit
SUPFAMiSSF50978 SSF50978, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<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 nameiBBS7_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: Q8IWZ6
Secondary accession number(s): Q4W5P8, Q8N581, Q9NVI4
<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: March 7, 2006
Last modified: November 13, 2019
This is version 153 of the entry and version 2 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 entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  2. Human chromosome 4
    Human chromosome 4: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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