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Protein

Protein PTHB1

Gene

BBS9

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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
Sitei141Critical for protein stability1 Publication1

GO - Biological processi

  • cilium assembly Source: GO_Central
  • fat cell differentiation Source: BHF-UCL
  • protein localization to cilium Source: GO_Central
  • protein transport Source: UniProtKB-KW
  • response to stimulus Source: UniProtKB-KW
  • visual perception Source: UniProtKB-KW

Keywordsi

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

Enzyme and pathway databases

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

Names & Taxonomyi

Protein namesi
Recommended name:
Protein PTHB1
Alternative name(s):
Bardet-Biedl syndrome 9 protein
Parathyroid hormone-responsive B1 gene protein
Gene namesi
Name:BBS9
Synonyms:PTHB1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 7

Organism-specific databases

EuPathDBiHostDB:ENSG00000122507.20
HGNCiHGNC:30000 BBS9
MIMi607968 gene
neXtProtiNX_Q3SYG4

Subcellular locationi

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

Keywords - Cellular componenti

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

Pathology & Biotechi

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 mutations affecting the gene represented in this entry.
Disease descriptionA syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
See also OMIM:615986
Feature keyPosition(s)DescriptionActionsGraphical viewLength
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
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 mutation, Mental retardation, Obesity

Organism-specific databases

DisGeNETi27241
GeneReviewsiBBS9
MalaCardsiBBS9
MIMi615986 phenotype
OpenTargetsiENSG00000122507
Orphaneti110 Bardet-Biedl syndrome
PharmGKBiPA162377359

Polymorphism and mutation databases

BioMutaiBBS9
DMDMi97180305

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002352691 – 887Protein PTHB1Add BLAST887

Proteomic databases

MaxQBiQ3SYG4
PaxDbiQ3SYG4
PeptideAtlasiQ3SYG4
PRIDEiQ3SYG4
ProteomicsDBi61861
61862 [Q3SYG4-2]
61863 [Q3SYG4-3]
61864 [Q3SYG4-4]
61865 [Q3SYG4-5]
61866 [Q3SYG4-6]

PTM databases

iPTMnetiQ3SYG4
PhosphoSitePlusiQ3SYG4

Expressioni

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

Inductioni

Down-regulated by parathyroid hormone.1 Publication

Gene expression databases

BgeeiENSG00000122507
ExpressionAtlasiQ3SYG4 baseline and differential
GenevisibleiQ3SYG4 HS

Organism-specific databases

HPAiHPA021289

Interactioni

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

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi118089, 16 interactors
ComplexPortaliCPX-1908 BBSome complex
CORUMiQ3SYG4
DIPiDIP-60358N
IntActiQ3SYG4, 20 interactors
MINTiQ3SYG4
STRINGi9606.ENSP00000242067

Structurei

Secondary structure

1887
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi7 – 13Combined sources7
Turni15 – 17Combined sources3
Beta strandi24 – 28Combined sources5
Beta strandi39 – 43Combined sources5
Beta strandi47 – 52Combined sources6
Beta strandi57 – 62Combined sources6
Beta strandi67 – 73Combined sources7
Beta strandi80 – 84Combined sources5
Beta strandi94 – 98Combined sources5
Beta strandi100 – 108Combined sources9
Beta strandi123 – 130Combined sources8
Beta strandi135 – 141Combined sources7
Helixi143 – 145Combined sources3
Beta strandi151 – 156Combined sources6
Beta strandi159 – 165Combined sources7
Beta strandi168 – 174Combined sources7
Beta strandi184 – 187Combined sources4
Turni188 – 191Combined sources4
Beta strandi192 – 196Combined sources5
Beta strandi200 – 206Combined sources7
Helixi207 – 212Combined sources6
Beta strandi236 – 240Combined sources5
Beta strandi245 – 251Combined sources7
Beta strandi259 – 271Combined sources13
Beta strandi277 – 282Combined sources6
Beta strandi287 – 294Combined sources8
Beta strandi302 – 307Combined sources6
Beta strandi310 – 316Combined sources7
Beta strandi319 – 325Combined sources7
Beta strandi330 – 338Combined sources9
Beta strandi341 – 349Combined sources9
Beta strandi353 – 358Combined sources6
Turni363 – 365Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
4YD8X-ray1.80A/B1-407[»]
ProteinModelPortaliQ3SYG4
SMRiQ3SYG4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1 – 407Seven-bladed beta-propeller1 PublicationAdd BLAST407
Regioni685 – 765Interaction with LZTL11 PublicationAdd BLAST81

Phylogenomic databases

eggNOGiKOG3679 Eukaryota
ENOG410XR64 LUCA
GeneTreeiENSGT00390000000803
HOVERGENiHBG082225
InParanoidiQ3SYG4
KOiK19398
OMAiVNVMGFR
OrthoDBiEOG091G03E1
PhylomeDBiQ3SYG4
TreeFamiTF314513

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

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q3SYG4-1) [UniParc]FASTAAdd to basket

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

« Hide

        10         20         30         40         50
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
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.

Note: No experimental confirmation available.
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.

Note: No experimental confirmation available. Gene prediction based on EST data.
Show »
Length:882
Mass (Da):98,683
Checksum:iF67942202E8979E4
GO

Sequence cautioni

The sequence AAD25980 differs from that shown. Chimera.Curated
The sequence AAD25981 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
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:rs11773504EnsemblClinVar.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
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:
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]
UniGeneiHs.372360

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]
GeneIDi27241
KEGGihsa:27241
UCSCiuc003tdn.2 human [Q3SYG4-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiPTHB1_HUMAN
AccessioniPrimary (citable) accession number: Q3SYG4
Secondary accession number(s): E9PDC9
, P78514, Q7KYS6, Q7KYS7, Q8N570, Q99844, Q99854, Q9Y699, Q9Y6A0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: October 11, 2005
Last modified: June 20, 2018
This is version 116 of the entry and version 1 of the sequence. See complete history.
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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

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