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Entry version 137 (29 Sep 2021)
Sequence version 1 (11 Oct 2005)
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Protein

Protein PTHB1

Gene

BBS9

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. Required for proper BBSome complex assembly and its ciliary localization.

2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei141Critical for protein stability1 Publication1

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

<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
Q3SYG4

Reactome - a knowledgebase of biological pathways and processes

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

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q3SYG4

<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:
Protein PTHB1
Alternative name(s):
Bardet-Biedl syndrome 9 protein
Parathyroid hormone-responsive B1 gene protein
<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:BBS9
Synonyms:PTHB1
<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 7

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:30000, BBS9

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607968, gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q3SYG4

Eukaryotic Pathogen, Vector and Host Database Resources

More...
VEuPathDBi
HostDB:ENSG00000122507

<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

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

A chromosomal aberration involving PTHB1 has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with OBSCN.1 Publication
Bardet-Biedl syndrome 9 (BBS9)2 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_026389141G → R in BBS9; severe loss of protein stability, probably due to aberrant folding. 2 PublicationsCorresponds to variant dbSNP:rs137852857EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi142S → G: Fails to restore protein stability; when associated with pathogenic variant BBS9 R-141. 1 Publication1
Mutagenesisi186Y → A: Fails to restore protein stability; when associated with pathogenic variant BBS9 R-141. 1 Publication1

Keywords - Diseasei

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

Organism-specific databases

DisGeNET

More...
DisGeNETi
27241

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

More...
GeneReviewsi
BBS9

MalaCards human disease database

More...
MalaCardsi
BBS9
MIMi615986, phenotype

Open Targets

More...
OpenTargetsi
ENSG00000122507

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
PA162377359

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q3SYG4, Tbio

Genetic variation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
BBS9

Domain mapping of disease mutations (DMDM)

More...
DMDMi
97180305

<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_00002352691 – 887Protein PTHB1Add BLAST887

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q3SYG4

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...
MassIVEi
Q3SYG4

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q3SYG4

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

More...
PaxDbi
Q3SYG4

PeptideAtlas

More...
PeptideAtlasi
Q3SYG4

PRoteomics IDEntifications database

More...
PRIDEi
Q3SYG4

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
19635
61861 [Q3SYG4-1]
61862 [Q3SYG4-2]
61863 [Q3SYG4-3]
61864 [Q3SYG4-4]
61865 [Q3SYG4-5]
61866 [Q3SYG4-6]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q3SYG4

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

More...
PhosphoSitePlusi
Q3SYG4

<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

Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain.2 Publications

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Down-regulated by parathyroid hormone.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000122507, Expressed in oocyte and 227 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q3SYG4, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q3SYG4, HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000122507, 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_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 LZTL1; the interaction mediates the association of LZTL1 with the BBsome complex and regulates BBSome ciliary trafficking.

2 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section">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

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...
BioGRIDi
118089, 18 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...
ComplexPortali
CPX-1908, BBSome complex

CORUM comprehensive resource of mammalian protein complexes

More...
CORUMi
Q3SYG4

Database of interacting proteins

More...
DIPi
DIP-60358N

Protein interaction database and analysis system

More...
IntActi
Q3SYG4, 25 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000242067

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q3SYG4, 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

Secondary structure

1887
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...
SMRi
Q3SYG4

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

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 – 407Seven-bladed beta-propeller1 PublicationAdd BLAST407
Regioni685 – 765Interaction with LZTL11 PublicationAdd BLAST81
Regioni850 – 887DisorderedSequence analysisAdd BLAST38

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi850 – 874Basic and acidic residuesSequence analysisAdd BLAST25

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3679, Eukaryota

Ensembl GeneTree

More...
GeneTreei
ENSGT00390000000803

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_015674_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q3SYG4

Identification of Orthologs from Complete Genome Data

More...
OMAi
VPVEDWT

Database of Orthologous Groups

More...
OrthoDBi
332152at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q3SYG4

TreeFam database of animal gene trees

More...
TreeFami
TF314513

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR028074, PHTB1_C_dom
IPR028073, PHTB1_N_dom
IPR026511, PTHB1

The PANTHER Classification System

More...
PANTHERi
PTHR20991, PTHR20991, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF14728, PHTB1_C, 1 hit
PF14727, PHTB1_N, 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 (7+)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 7 <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 7 described isoforms and 11 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: Q3SYG4-1) [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
MSLFKARDWW STILGDKEEF DQGCLCLANV DNSGNGQDKI IVGSFMGYLR
60 70 80 90 100
IFSPHPAKTG DGAQAEDLLL EVDLRDPVLQ VEVGKFVSGT EMLHLAVLHS
110 120 130 140 150
RKLCVYSVSG TLGNVEHGNQ CQMKLMYEHN LQRTACNMTY GSFGGVKGRD
160 170 180 190 200
LICIQSMDGM LMVFEQESYA FGRFLPGFLL PGPLAYSSRT DSFLTVSSCQ
210 220 230 240 250
QVESYKYQVL AFATDADKRQ ETEQQKLGSG KRLVVDWTLN IGEQALDICI
260 270 280 290 300
VSFNQSASSV FVLGERNFFC LKDNGQIRFM KKLDWSPSCF LPYCSVSEGT
310 320 330 340 350
INTLIGNHNN MLHIYQDVTL KWATQLPHIP VAVRVGCLHD LKGVIVTLSD
360 370 380 390 400
DGHLQCSYLG TDPSLFQAPN VQSRELNYDE LDVEMKELQK IIKDVNKSQG
410 420 430 440 450
VWPMTEREDD LNVSVVVSPN FDSVSQATDV EVGTDLVPSV TVKVTLQNRV
460 470 480 490 500
ILQKAKLSVY VQPPLELTCD QFTFEFMTPD LTRTVSFSVY LKRSYTPSEL
510 520 530 540 550
EGNAVVSYSR PTDRNPDGIP RVIQCKFRLP LKLICLPGQP SKTASHKITI
560 570 580 590 600
DTNKSPVSLL SLFPGFASQS DDDQVNVMGF HFLGGARITV LASKTSQRYR
610 620 630 640 650
IQSEQFEDLW LITNELILRL QEYFEKQGVK DFACSFSGSI PLQEYFELID
660 670 680 690 700
HHFELRINGE KLEELLSERA VQFRAIQRRL LARFKDKTPA PLQHLDTLLD
710 720 730 740 750
GTYKQVIALA DAVEENQGNL FQSFTRLKSA THLVILLIAL WQKLSADQVA
760 770 780 790 800
ILEAAFLPLQ EDTQELGWEE TVDAAISHLL KTCLSKSSKE QALNLNSQLN
810 820 830 840 850
IPKDTSQLKK HITLLCDRLS KGGRLCLSTD AAAPQTMVMP GGCTTIPESD
860 870 880
LEERSVEQDS TELFTNHRHL TAETPRPEVS PLQGVSE
Length:887
Mass (Da):99,280
Last modified:October 11, 2005 - 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:i8E333B7680243B7A
GO
Isoform 2 (identifier: Q3SYG4-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     478-518: TPDLTRTVSFSVYLKRSYTPSELEGNAVVSYSRPTDRNPDG → S

Show »
Length:847
Mass (Da):94,808
Checksum:i2D2E7159015D0591
GO
Isoform 3 (identifier: Q3SYG4-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     878-887: EVSPLQGVSE → GKRLDGLHKR

Show »
Length:887
Mass (Da):99,416
Checksum:i7E1E2259CE89AB3B
GO
Isoform 4 (identifier: Q3SYG4-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     478-513: TPDLTRTVSFSVYLKRSYTPSELEGNAVVSYSRPTD → N

Show »
Length:852
Mass (Da):95,375
Checksum:i9E1C051A8C496E54
GO
Isoform 5 (identifier: Q3SYG4-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-45: Missing.
     339-355: HDLKGVIVTLSDDGHLQ → QFSLWKHLLPRSSTLEK
     356-887: Missing.

Show »
Length:310
Mass (Da):34,769
Checksum:iF1C67C25D9975922
GO
Isoform 6 (identifier: Q3SYG4-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     478-481: TPDL → IFSS
     482-887: Missing.

Show »
Length:481
Mass (Da):53,725
Checksum:i86700B71620E909F
GO
Isoform 7 (identifier: Q3SYG4-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     513-517: Missing.

Show »
Length:882
Mass (Da):98,683
Checksum:iF67942202E8979E4
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 11 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A5F9ZGY2A0A5F9ZGY2_HUMAN
Protein PTHB1
BBS9
765Annotation 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>
A0A5F9ZH74A0A5F9ZH74_HUMAN
Protein PTHB1
BBS9
842Annotation 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>
A0A5F9ZGX9A0A5F9ZGX9_HUMAN
Protein PTHB1
BBS9
928Annotation 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>
H7BZ69H7BZ69_HUMAN
Protein PTHB1
BBS9
454Annotation 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>
F8WCG5F8WCG5_HUMAN
Protein PTHB1
BBS9
460Annotation 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>
A0A5F9ZH14A0A5F9ZH14_HUMAN
Protein PTHB1
BBS9
908Annotation 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>
A0A5F9ZHE7A0A5F9ZHE7_HUMAN
Protein PTHB1
BBS9
871Annotation 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>
A0A5F9ZHP5A0A5F9ZHP5_HUMAN
Protein PTHB1
BBS9
795Annotation 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>
A0A5F9ZH37A0A5F9ZH37_HUMAN
Protein PTHB1
BBS9
851Annotation 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>
C9JJ08C9JJ08_HUMAN
Protein PTHB1
BBS9
97Annotation 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>
There is more potential isoformShow all

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAD25980 differs from that shown. Chimera.Curated
The sequence AAD25981 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

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 conflicti282K → R in AAD25981 (PubMed:10221542).Curated1
Sequence conflicti759L → V in AAB47568 (Ref. 4) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05128912T → A. Corresponds to variant dbSNP:rs4498440EnsemblClinVar.1
Natural variantiVAR_026389141G → R in BBS9; severe loss of protein stability, probably due to aberrant folding. 2 PublicationsCorresponds to variant dbSNP:rs137852857EnsemblClinVar.1
Natural variantiVAR_051290455A → T. Corresponds to variant dbSNP:rs11773504EnsemblClinVar.1
Natural variantiVAR_026390455A → V. Corresponds to variant dbSNP:rs764873070Ensembl.1
Natural variantiVAR_051291521R → Q. Corresponds to variant dbSNP:rs34218557EnsemblClinVar.1
Natural variantiVAR_066292549T → I1 PublicationCorresponds to variant dbSNP:rs59252892EnsemblClinVar.1
Natural variantiVAR_066293665L → F1 PublicationCorresponds to variant dbSNP:rs116262072EnsemblClinVar.1
Natural variantiVAR_066294779L → Q1 PublicationCorresponds to variant dbSNP:rs142434516EnsemblClinVar.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_0184211 – 45Missing in isoform 5. 1 PublicationAdd BLAST45
Alternative sequenceiVSP_018422339 – 355HDLKG…DGHLQ → QFSLWKHLLPRSSTLEK in isoform 5. 1 PublicationAdd BLAST17
Alternative sequenceiVSP_018423356 – 887Missing in isoform 5. 1 PublicationAdd BLAST532
Alternative sequenceiVSP_018426478 – 518TPDLT…RNPDG → S in isoform 2. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_018427478 – 513TPDLT…SRPTD → N in isoform 4. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_018424478 – 481TPDL → IFSS in isoform 6. Curated4
Alternative sequenceiVSP_018425482 – 887Missing in isoform 6. CuratedAdd BLAST406
Alternative sequenceiVSP_054063513 – 517Missing in isoform 7. Curated5
Alternative sequenceiVSP_018428878 – 887EVSPLQGVSE → GKRLDGLHKR in isoform 3. 1 Publication10

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
AC006195 Genomic DNA No translation available.
AC007312 Genomic DNA No translation available.
AC074338 Genomic DNA No translation available.
AC078833 Genomic DNA No translation available.
AC087070 Genomic DNA No translation available.
BC032715 mRNA Translation: AAH32715.1
BC103831 mRNA Translation: AAI03832.1
AF095770 mRNA Translation: AAD25980.1 Sequence problems.
AF095771 mRNA Translation: AAD25981.1 Different initiation.
U85994 mRNA Translation: AAB61918.1
U85995 mRNA Translation: AAB61919.1
U85997 Genomic DNA Translation: AAB46606.1
U87408 mRNA Translation: AAB47568.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS34618.1 [Q3SYG4-7]
CCDS43566.1 [Q3SYG4-1]
CCDS47572.1 [Q3SYG4-4]
CCDS5441.1 [Q3SYG4-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001028776.1, NM_001033604.1 [Q3SYG4-4]
NP_001028777.1, NM_001033605.1 [Q3SYG4-7]
NP_001334965.1, NM_001348036.1 [Q3SYG4-1]
NP_055266.2, NM_014451.3 [Q3SYG4-2]
NP_940820.1, NM_198428.2 [Q3SYG4-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000242067; ENSP00000242067; ENSG00000122507 [Q3SYG4-1]
ENST00000350941; ENSP00000313122; ENSG00000122507 [Q3SYG4-2]
ENST00000355070; ENSP00000347182; ENSG00000122507 [Q3SYG4-7]
ENST00000396127; ENSP00000379433; ENSG00000122507 [Q3SYG4-4]
ENST00000425508; ENSP00000405151; ENSG00000122507 [Q3SYG4-5]
ENST00000672717; ENSP00000499835; ENSG00000122507 [Q3SYG4-4]
ENST00000673462; ENSP00000499848; ENSG00000122507 [Q3SYG4-6]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
27241

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:27241

UCSC genome browser

More...
UCSCi
uc003tdn.2, human [Q3SYG4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

<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

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AC006195 Genomic DNA No translation available.
AC007312 Genomic DNA No translation available.
AC074338 Genomic DNA No translation available.
AC078833 Genomic DNA No translation available.
AC087070 Genomic DNA No translation available.
BC032715 mRNA Translation: AAH32715.1
BC103831 mRNA Translation: AAI03832.1
AF095770 mRNA Translation: AAD25980.1 Sequence problems.
AF095771 mRNA Translation: AAD25981.1 Different initiation.
U85994 mRNA Translation: AAB61918.1
U85995 mRNA Translation: AAB61919.1
U85997 Genomic DNA Translation: AAB46606.1
U87408 mRNA Translation: AAB47568.1
CCDSiCCDS34618.1 [Q3SYG4-7]
CCDS43566.1 [Q3SYG4-1]
CCDS47572.1 [Q3SYG4-4]
CCDS5441.1 [Q3SYG4-2]
RefSeqiNP_001028776.1, NM_001033604.1 [Q3SYG4-4]
NP_001028777.1, NM_001033605.1 [Q3SYG4-7]
NP_001334965.1, NM_001348036.1 [Q3SYG4-1]
NP_055266.2, NM_014451.3 [Q3SYG4-2]
NP_940820.1, NM_198428.2 [Q3SYG4-1]

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
4YD8X-ray1.80A/B1-407[»]
6XT9electron microscopy3.80I1-887[»]
SMRiQ3SYG4
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi118089, 18 interactors
ComplexPortaliCPX-1908, BBSome complex
CORUMiQ3SYG4
DIPiDIP-60358N
IntActiQ3SYG4, 25 interactors
STRINGi9606.ENSP00000242067

PTM databases

iPTMnetiQ3SYG4
PhosphoSitePlusiQ3SYG4

Genetic variation databases

BioMutaiBBS9
DMDMi97180305

Proteomic databases

jPOSTiQ3SYG4
MassIVEiQ3SYG4
MaxQBiQ3SYG4
PaxDbiQ3SYG4
PeptideAtlasiQ3SYG4
PRIDEiQ3SYG4
ProteomicsDBi19635
61861 [Q3SYG4-1]
61862 [Q3SYG4-2]
61863 [Q3SYG4-3]
61864 [Q3SYG4-4]
61865 [Q3SYG4-5]
61866 [Q3SYG4-6]

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...
Antibodypediai
12805, 167 antibodies

The DNASU plasmid repository

More...
DNASUi
27241

Genome annotation databases

EnsembliENST00000242067; ENSP00000242067; ENSG00000122507 [Q3SYG4-1]
ENST00000350941; ENSP00000313122; ENSG00000122507 [Q3SYG4-2]
ENST00000355070; ENSP00000347182; ENSG00000122507 [Q3SYG4-7]
ENST00000396127; ENSP00000379433; ENSG00000122507 [Q3SYG4-4]
ENST00000425508; ENSP00000405151; ENSG00000122507 [Q3SYG4-5]
ENST00000672717; ENSP00000499835; ENSG00000122507 [Q3SYG4-4]
ENST00000673462; ENSP00000499848; ENSG00000122507 [Q3SYG4-6]
GeneIDi27241
KEGGihsa:27241
UCSCiuc003tdn.2, human [Q3SYG4-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
27241
DisGeNETi27241

GeneCards: human genes, protein and diseases

More...
GeneCardsi
BBS9
GeneReviewsiBBS9
HGNCiHGNC:30000, BBS9
HPAiENSG00000122507, Low tissue specificity
MalaCardsiBBS9
MIMi607968, gene
615986, phenotype
neXtProtiNX_Q3SYG4
OpenTargetsiENSG00000122507
Orphaneti110, Bardet-Biedl syndrome
PharmGKBiPA162377359
VEuPathDBiHostDB:ENSG00000122507

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3679, Eukaryota
GeneTreeiENSGT00390000000803
HOGENOMiCLU_015674_1_0_1
InParanoidiQ3SYG4
OMAiVPVEDWT
OrthoDBi332152at2759
PhylomeDBiQ3SYG4
TreeFamiTF314513

Enzyme and pathway databases

PathwayCommonsiQ3SYG4
ReactomeiR-HSA-5620922, BBSome-mediated cargo-targeting to cilium
SIGNORiQ3SYG4

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...
BioGRID-ORCSi
27241, 11 hits in 1016 CRISPR screens

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

More...
ChiTaRSi
BBS9, human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
BBS9

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

More...
GenomeRNAii
27241
PharosiQ3SYG4, Tbio

Protein Ontology

More...
PROi
PR:Q3SYG4
RNActiQ3SYG4, protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000122507, Expressed in oocyte and 227 other tissues
ExpressionAtlasiQ3SYG4, baseline and differential
GenevisibleiQ3SYG4, HS

Family and domain databases

InterProiView protein in InterPro
IPR028074, PHTB1_C_dom
IPR028073, PHTB1_N_dom
IPR026511, PTHB1
PANTHERiPTHR20991, PTHR20991, 1 hit
PfamiView protein in Pfam
PF14728, PHTB1_C, 1 hit
PF14727, PHTB1_N, 1 hit

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 nameiPTHB1_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: Q3SYG4
Secondary accession number(s): E9PDC9
, P78514, Q7KYS6, Q7KYS7, Q8N570, Q99844, Q99854, Q9Y699, Q9Y6A0
<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: May 16, 2006
Last sequence update: October 11, 2005
Last modified: September 29, 2021
This is version 137 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

3D-structure, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: 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
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