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UniProtKB - Q96RK4 (BBS4_HUMAN)

Entry version 191 (10 Feb 2021)
Sequence version 2 (23 Oct 2007)
Previous versions | rss
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Protein

Bardet-Biedl syndrome 4 protein

Gene

BBS4

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. Required for microtubule anchoring at the centrosome but not for microtubule nucleation. May be required for the dynein-mediated transport of pericentriolar proteins to the centrosome.3 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		Q96RK4

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%5Fand%5Ftaxonomy%5Fsection">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 4 protein
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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:BBS4
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 15

Organism-specific databases

Human Gene Nomenclature Database

More...HGNCi		HGNC:969, BBS4

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		600374, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_Q96RK4

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000140463.13

<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, Flagellum, 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

Bardet-Biedl syndrome 4 (BBS4)6 Publications
The disease is caused by variants 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_017049165N → H in BBS4. 1 Publication1
Natural variantiVAR_013170295R → P in BBS4. 1 PublicationCorresponds to variant dbSNP:rs121434632EnsemblClinVar.1
Natural variantiVAR_017050327L → P in BBS4. 1 Publication1
Natural variantiVAR_038895351L → R in BBS4. 1 Publication1
Natural variantiVAR_017051364A → E in BBS4. 1 PublicationCorresponds to variant dbSNP:rs28938468EnsemblClinVar.1
Natural variantiVAR_038896368D → G in BBS4. 1 PublicationCorresponds to variant dbSNP:rs772548770EnsemblClinVar.1
Natural variantiVAR_017052457S → I in BBS4. 1 Publication1
Natural variantiVAR_017053472M → V in BBS4. 2 PublicationsCorresponds to variant dbSNP:rs2277596EnsemblClinVar.1
Natural variantiVAR_038897503P → L in BBS4. Corresponds to variant dbSNP:rs756419611Ensembl.1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...DisGeNETi		585

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

More...GeneReviewsi		BBS4

MalaCards human disease database

More...MalaCardsi		BBS4
MIMi615982, phenotype

Open Targets

More...OpenTargetsi		ENSG00000140463

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		PA25278

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		Q96RK4, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		BBS4

Domain mapping of disease mutations (DMDM)

More...DMDMi		160359000

<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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001062631 – 519Bardet-Biedl syndrome 4 proteinAdd BLAST519

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		Q96RK4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		Q96RK4

MaxQB - The MaxQuant DataBase

More...MaxQBi		Q96RK4

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

More...PaxDbi		Q96RK4

PeptideAtlas

More...PeptideAtlasi		Q96RK4

PRoteomics IDEntifications database

More...PRIDEi		Q96RK4

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		5732
77975 [Q96RK4-1]
77976 [Q96RK4-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		Q96RK4

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

More...PhosphoSitePlusi		Q96RK4

<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

Ubiquitously expressed. The highest level of expression is found in the kidney.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000140463, Expressed in right uterine tube and 216 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		Q96RK4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		Q96RK4, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000140463, Low tissue specificity

<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%5Fsection">'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%5Fsection">'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 PCM1 and DCTN1.

Interacts with DC28B.

Interacts with ALDOB and C2CD3.

Interacts with PKD1 (PubMed:24939912).

Interacts with CEP290 (PubMed:23943788).

7 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107060, 45 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-1908, BBSome complex

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		Q96RK4

Database of interacting proteins

More...DIPi		DIP-46540N

Protein interaction database and analysis system

More...IntActi		Q96RK4, 65 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000268057

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		Q96RK4, protein

<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

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

More...SMRi		Q96RK4

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati67 – 100TPR 1Add BLAST34
Repeati101 – 134TPR 2Add BLAST34
Repeati135 – 168TPR 3Add BLAST34
Repeati169 – 201TPR 4Add BLAST33
Repeati203 – 235TPR 5Add BLAST33
Repeati237 – 269TPR 6Add BLAST33
Repeati270 – 303TPR 7Add BLAST34
Repeati304 – 337TPR 8Add BLAST34
Repeati339 – 371TPR 9Add BLAST33
Repeati373 – 408TPR 10Add BLAST36

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni1 – 66Required for localization to centrosomesAdd BLAST66
Regioni101 – 337Interaction with PCM11 PublicationAdd BLAST237
Regioni338 – 519Required for localization to centrosomesAdd BLAST182

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the BBS4 family.Curated

Keywords - Domaini

Repeat, TPR repeat

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG1124, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00940000158166

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_033477_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		Q96RK4

Identification of Orthologs from Complete Genome Data

More...OMAi		NPRMGEL

Database for complete collections of gene phylogenies

More...PhylomeDBi		Q96RK4

TreeFam database of animal gene trees

More...TreeFami		TF324966

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.25.40.10, 3 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR028786, BBS4
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat

The PANTHER Classification System

More...PANTHERi		PTHR44186, PTHR44186, 1 hit

Pfam protein domain database

More...Pfami		View protein in Pfam
PF13181, TPR_8, 2 hits

Simple Modular Architecture Research Tool; a protein domain database

More...SMARTi		View protein in SMART
SM00028, TPR, 8 hits

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48452, SSF48452, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50005, TPR, 8 hits
PS50293, TPR_REGION, 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%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>Sequences (3+)i

<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.

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. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<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 10 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q96RK4-1) [UniParc]FASTAAdd to basket

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
MAEERVATRT QFPVSTESQK PRQKKAPEFP ILEKQNWLIH LHYIRKDYEA 
        60         70         80         90        100
CKAVIKEQLQ ETQGLCEYAI YVQALIFRLE GNIQESLELF QTCAVLSPQS 
       110        120        130        140        150
ADNLKQVARS LFLLGKHKAA IEVYNEAAKL NQKDWEISHN LGVCYIYLKQ 
       160        170        180        190        200
FNKAQDQLHN ALNLNRHDLT YIMLGKIHLL EGDLDKAIEV YKKAVEFSPE 
       210        220        230        240        250
NTELLTTLGL LYLQLGIYQK AFEHLGNALT YDPTNYKAIL AAGSMMQTHG 
       260        270        280        290        300
DFDVALTKYR VVACAVPESP PLWNNIGMCF FGKKKYVAAI SCLKRANYLA 
       310        320        330        340        350
PFDWKILYNL GLVHLTMQQY ASAFHFLSAA INFQPKMGEL YMLLAVALTN 
       360        370        380        390        400
LEDIENAKRA YAEAVHLDKC NPLVNLNYAV LLYNQGEKKN ALAQYQEMEK 
       410        420        430        440        450
KVSLLKDNSS LEFDSEMVEM AQKLGAALQV GEALVWTKPV KDPKSKHQTT 
       460        470        480        490        500
STSKPASFQQ PLGSNQALGQ AMSSAAAYRT LPSGAGGTSQ FTKPPSLPLE 
       510 
PEPAVESSPT ETSEQIREK
Length:519
Mass (Da):58,282
Last modified:October 23, 2007 - 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:i59BC9B29355C8E3C
GO
Isoform 2 (identifier: Q96RK4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MAEERVAT → MALTVVPSFSVSGVWK

Show »
Length:527
Mass (Da):59,084
Checksum:i09A45FF715582D14
GO
Isoform 3 (identifier: Q96RK4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-172: Missing.

Show »
Length:347
Mass (Da):38,282
Checksum:i22AAB3D93C36F0E9
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 10 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H3BSL2H3BSL2_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
281Annotation score:

Annotation score:2 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>
H3BQV7H3BQV7_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
141Annotation 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>
H3BU58H3BU58_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
180Annotation 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>
H3BPP7H3BPP7_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
142Annotation 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>
H3BUU1H3BUU1_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
103Annotation 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>
H3BSE2H3BSE2_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
67Annotation 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>
H3BV56H3BV56_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
33Annotation 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>
H3BN76H3BN76_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
77Annotation 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>
H3BRY9H3BRY9_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
20Annotation 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>
H3BUQ7H3BUQ7_HUMAN
Bardet-Biedl syndrome 4 protein
BBS4
50Annotation 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_03889446K → R2 PublicationsCorresponds to variant dbSNP:rs75295839EnsemblClinVar.1
Natural variantiVAR_06628761E → K Found in patients with Bardet-Biedl syndrome carrying mutations in other BBS genes; uncertain pathological role. 1 PublicationCorresponds to variant dbSNP:rs1251827333Ensembl.1
Natural variantiVAR_017049165N → H in BBS4. 1 Publication1
Natural variantiVAR_028722268E → K. Corresponds to variant dbSNP:rs11638283Ensembl.1
Natural variantiVAR_013170295R → P in BBS4. 1 PublicationCorresponds to variant dbSNP:rs121434632EnsemblClinVar.1
Natural variantiVAR_017050327L → P in BBS4. 1 Publication1
Natural variantiVAR_038895351L → R in BBS4. 1 Publication1
Natural variantiVAR_017054354I → T3 PublicationsCorresponds to variant dbSNP:rs2277598EnsemblClinVar.1
Natural variantiVAR_017051364A → E in BBS4. 1 PublicationCorresponds to variant dbSNP:rs28938468EnsemblClinVar.1
Natural variantiVAR_038896368D → G in BBS4. 1 PublicationCorresponds to variant dbSNP:rs772548770EnsemblClinVar.1
Natural variantiVAR_028723393A → V1 PublicationCorresponds to variant dbSNP:rs17852452Ensembl.1
Natural variantiVAR_066288412E → D in a patient with Bardet-Biedl syndrome compound heterozygote for mutations in BBS1; uncertain pathological role. 1 PublicationCorresponds to variant dbSNP:rs147202164EnsemblClinVar.1
Natural variantiVAR_017052457S → I in BBS4. 1 Publication1
Natural variantiVAR_017053472M → V in BBS4. 2 PublicationsCorresponds to variant dbSNP:rs2277596EnsemblClinVar.1
Natural variantiVAR_066289488T → K in a patient with Bardet-Biedl syndrome homozygous for a mutation in BBS12; uncertain pathological role. 1 PublicationCorresponds to variant dbSNP:rs561284402EnsemblClinVar.1
Natural variantiVAR_038897503P → L in BBS4. Corresponds to variant dbSNP:rs756419611Ensembl.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_0475071 – 172Missing in isoform 3. 1 PublicationAdd BLAST172
Alternative sequenceiVSP_0244101 – 8MAEERVAT → MALTVVPSFSVSGVWK in isoform 2. 1 Publication8

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
AF359281 mRNA Translation: AAK58868.1
AY457143 mRNA Translation: AAS13441.1
AK075321 mRNA Translation: BAC11547.1
AK303706 mRNA Translation: BAG64690.1
AC009712 Genomic DNA No translation available.
BC008923 mRNA Translation: AAH08923.2
BC027624 mRNA Translation: AAH27624.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS10246.1 [Q96RK4-1]
CCDS58377.1 [Q96RK4-3]

NCBI Reference Sequences

More...RefSeqi		NP_001239607.1, NM_001252678.1 [Q96RK4-3]
NP_001307594.1, NM_001320665.1
NP_149017.2, NM_033028.4 [Q96RK4-1]
XP_011520150.1, XM_011521848.1 [Q96RK4-3]
XP_011520151.1, XM_011521849.1 [Q96RK4-3]
XP_016877940.1, XM_017022451.1
XP_016877941.1, XM_017022452.1 [Q96RK4-3]
XP_016877942.1, XM_017022453.1 [Q96RK4-3]
XP_016877943.1, XM_017022454.1 [Q96RK4-3]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000268057; ENSP00000268057; ENSG00000140463 [Q96RK4-1]
ENST00000395205; ENSP00000378631; ENSG00000140463 [Q96RK4-3]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		585

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:585

UCSC genome browser

More...UCSCi		uc002avb.4, human [Q96RK4-1]

Keywords - Coding sequence diversityi

Alternative splicing

<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%5Freferences%5Fsection">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 BBS4 gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF359281 mRNA Translation: AAK58868.1
AY457143 mRNA Translation: AAS13441.1
AK075321 mRNA Translation: BAC11547.1
AK303706 mRNA Translation: BAG64690.1
AC009712 Genomic DNA No translation available.
BC008923 mRNA Translation: AAH08923.2
BC027624 mRNA Translation: AAH27624.1
CCDSiCCDS10246.1 [Q96RK4-1]
CCDS58377.1 [Q96RK4-3]
RefSeqiNP_001239607.1, NM_001252678.1 [Q96RK4-3]
NP_001307594.1, NM_001320665.1
NP_149017.2, NM_033028.4 [Q96RK4-1]
XP_011520150.1, XM_011521848.1 [Q96RK4-3]
XP_011520151.1, XM_011521849.1 [Q96RK4-3]
XP_016877940.1, XM_017022451.1
XP_016877941.1, XM_017022452.1 [Q96RK4-3]
XP_016877942.1, XM_017022453.1 [Q96RK4-3]
XP_016877943.1, XM_017022454.1 [Q96RK4-3]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
6XT9electron microscopy3.80D1-519[»]
SMRiQ96RK4
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi107060, 45 interactors
ComplexPortaliCPX-1908, BBSome complex
CORUMiQ96RK4
DIPiDIP-46540N
IntActiQ96RK4, 65 interactors
STRINGi9606.ENSP00000268057

PTM databases

iPTMnetiQ96RK4
PhosphoSitePlusiQ96RK4

Genetic variation databases

BioMutaiBBS4
DMDMi160359000

Proteomic databases

EPDiQ96RK4
MassIVEiQ96RK4
MaxQBiQ96RK4
PaxDbiQ96RK4
PeptideAtlasiQ96RK4
PRIDEiQ96RK4
ProteomicsDBi5732
77975 [Q96RK4-1]
77976 [Q96RK4-2]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26730, 279 antibodies

The DNASU plasmid repository

More...DNASUi		585

Genome annotation databases

EnsembliENST00000268057; ENSP00000268057; ENSG00000140463 [Q96RK4-1]
ENST00000395205; ENSP00000378631; ENSG00000140463 [Q96RK4-3]
GeneIDi585
KEGGihsa:585
UCSCiuc002avb.4, human [Q96RK4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		585
DisGeNETi585

GeneCards: human genes, protein and diseases

More...GeneCardsi		BBS4
GeneReviewsiBBS4
HGNCiHGNC:969, BBS4
HPAiENSG00000140463, Low tissue specificity
MalaCardsiBBS4
MIMi600374, gene
615982, phenotype
neXtProtiNX_Q96RK4
OpenTargetsiENSG00000140463
Orphaneti110, Bardet-Biedl syndrome
PharmGKBiPA25278
VEuPathDBiHostDB:ENSG00000140463.13

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG1124, Eukaryota
GeneTreeiENSGT00940000158166
HOGENOMiCLU_033477_1_0_1
InParanoidiQ96RK4
OMAiNPRMGEL
PhylomeDBiQ96RK4
TreeFamiTF324966

Enzyme and pathway databases

PathwayCommonsiQ96RK4
ReactomeiR-HSA-5620922, BBSome-mediated cargo-targeting to cilium

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		585, 3 hits in 871 CRISPR screens

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

More...ChiTaRSi		BBS4, human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		BBS4

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

More...GenomeRNAii		585
PharosiQ96RK4, Tbio

Protein Ontology

More...PROi		PR:Q96RK4
RNActiQ96RK4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000140463, Expressed in right uterine tube and 216 other tissues
ExpressionAtlasiQ96RK4, baseline and differential
GenevisibleiQ96RK4, HS

Family and domain databases

Gene3Di1.25.40.10, 3 hits
InterProiView protein in InterPro
IPR028786, BBS4
IPR013026, TPR-contain_dom
IPR011990, TPR-like_helical_dom_sf
IPR019734, TPR_repeat
PANTHERiPTHR44186, PTHR44186, 1 hit
PfamiView protein in Pfam
PF13181, TPR_8, 2 hits
SMARTiView protein in SMART
SM00028, TPR, 8 hits
SUPFAMiSSF48452, SSF48452, 2 hits
PROSITEiView protein in PROSITE
PS50005, TPR, 8 hits
PS50293, TPR_REGION, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		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 nameiBBS4_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: Q96RK4
Secondary accession number(s): B4E178
, Q53DZ5, Q8NHU9, Q96H45
<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%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 2, 2002
Last sequence update: October 23, 2007
Last modified: February 10, 2021
This is version 191 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 15
    Human chromosome 15: entries, gene names and cross-references to MIM
  2. Human entries with genetic variants
    List of human entries with genetic variants
  3. Human variants curated from literature reports
    Index of human variants curated from literature reports
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
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