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Q3SYG4 (PTHB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 81. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Protein PTHB1
Alternative name(s):
Bardet-Biedl syndrome 9 protein
Parathyroid hormone-responsive B1 gene protein
Gene names
Name:BBS9
Synonyms:PTHB1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length887 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.6 Ref.7

Subunit structure

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. Ref.6 Ref.7

Subcellular location

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cell projectioncilium membrane. Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite Ref.6 Ref.7.

Tissue specificity

Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain. Ref.3 Ref.8

Induction

Down-regulated by parathyroid hormone. Ref.3

Involvement in disease

A chromosomal aberration involving PTHB1 has been found in Wilms tumor. Translocation t(1;7)(q42;p15) with OBSCN.

Bardet-Biedl syndrome 9 (BBS9) [MIM:209900]: A 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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.8

Sequence caution

The sequence AAD25980.1 differs from that shown. Reason: Chimera.

The sequence AAD25981.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q3SYG4-1)

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.
Isoform 2 (identifier: Q3SYG4-2)

The sequence of this isoform differs from the canonical sequence as follows:
     478-518: TPDLTRTVSFSVYLKRSYTPSELEGNAVVSYSRPTDRNPDG → S
Isoform 3 (identifier: Q3SYG4-3)

The sequence of this isoform differs from the canonical sequence as follows:
     878-887: EVSPLQGVSE → GKRLDGLHKR
Isoform 4 (identifier: Q3SYG4-4)

The sequence of this isoform differs from the canonical sequence as follows:
     478-513: TPDLTRTVSFSVYLKRSYTPSELEGNAVVSYSRPTD → N
Isoform 5 (identifier: Q3SYG4-5)

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.
Isoform 6 (identifier: Q3SYG4-6)

The sequence of this isoform differs from the canonical sequence as follows:
     478-481: TPDL → IFSS
     482-887: Missing.
Isoform 7 (identifier: Q3SYG4-7)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 887887Protein PTHB1
PRO_0000235269

Regions

Region685 – 76581Interaction with LZTL1

Natural variations

Alternative sequence1 – 4545Missing in isoform 5.
VSP_018421
Alternative sequence339 – 35517HDLKG…DGHLQ → QFSLWKHLLPRSSTLEK in isoform 5.
VSP_018422
Alternative sequence356 – 887532Missing in isoform 5.
VSP_018423
Alternative sequence478 – 51841TPDLT…RNPDG → S in isoform 2.
VSP_018426
Alternative sequence478 – 51336TPDLT…SRPTD → N in isoform 4.
VSP_018427
Alternative sequence478 – 4814TPDL → IFSS in isoform 6.
VSP_018424
Alternative sequence482 – 887406Missing in isoform 6.
VSP_018425
Alternative sequence513 – 5175Missing in isoform 7.
VSP_054063
Alternative sequence878 – 88710EVSPLQGVSE → GKRLDGLHKR in isoform 3.
VSP_018428
Natural variant121T → A.
Corresponds to variant rs4498440 [ dbSNP | Ensembl ].
VAR_051289
Natural variant1411G → R in BBS9. Ref.8
VAR_026389
Natural variant4551A → T.
Corresponds to variant rs11773504 [ dbSNP | Ensembl ].
VAR_051290
Natural variant4551A → V.
Corresponds to variant rs11773504 [ dbSNP | Ensembl ].
VAR_026390
Natural variant5211R → Q.
Corresponds to variant rs34218557 [ dbSNP | Ensembl ].
VAR_051291
Natural variant5491T → I. Ref.9
Corresponds to variant rs59252892 [ dbSNP | Ensembl ].
VAR_066292
Natural variant6651L → F. Ref.9
Corresponds to variant rs116262072 [ dbSNP | Ensembl ].
VAR_066293
Natural variant7791L → Q. Ref.9
Corresponds to variant rs142434516 [ dbSNP | Ensembl ].
VAR_066294

Experimental info

Sequence conflict2821K → R in AAD25981. Ref.3
Sequence conflict7591L → V in AAB47568. Ref.4

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 11, 2005. Version 1.
Checksum: 8E333B7680243B7A

FASTA88799,280
        10         20         30         40         50         60 
MSLFKARDWW STILGDKEEF DQGCLCLANV DNSGNGQDKI IVGSFMGYLR IFSPHPAKTG 

        70         80         90        100        110        120 
DGAQAEDLLL EVDLRDPVLQ VEVGKFVSGT EMLHLAVLHS RKLCVYSVSG TLGNVEHGNQ 

       130        140        150        160        170        180 
CQMKLMYEHN LQRTACNMTY GSFGGVKGRD LICIQSMDGM LMVFEQESYA FGRFLPGFLL 

       190        200        210        220        230        240 
PGPLAYSSRT DSFLTVSSCQ QVESYKYQVL AFATDADKRQ ETEQQKLGSG KRLVVDWTLN 

       250        260        270        280        290        300 
IGEQALDICI VSFNQSASSV FVLGERNFFC LKDNGQIRFM KKLDWSPSCF LPYCSVSEGT 

       310        320        330        340        350        360 
INTLIGNHNN MLHIYQDVTL KWATQLPHIP VAVRVGCLHD LKGVIVTLSD DGHLQCSYLG 

       370        380        390        400        410        420 
TDPSLFQAPN VQSRELNYDE LDVEMKELQK IIKDVNKSQG VWPMTEREDD LNVSVVVSPN 

       430        440        450        460        470        480 
FDSVSQATDV EVGTDLVPSV TVKVTLQNRV ILQKAKLSVY VQPPLELTCD QFTFEFMTPD 

       490        500        510        520        530        540 
LTRTVSFSVY LKRSYTPSEL EGNAVVSYSR PTDRNPDGIP RVIQCKFRLP LKLICLPGQP 

       550        560        570        580        590        600 
SKTASHKITI DTNKSPVSLL SLFPGFASQS DDDQVNVMGF HFLGGARITV LASKTSQRYR 

       610        620        630        640        650        660 
IQSEQFEDLW LITNELILRL QEYFEKQGVK DFACSFSGSI PLQEYFELID HHFELRINGE 

       670        680        690        700        710        720 
KLEELLSERA VQFRAIQRRL LARFKDKTPA PLQHLDTLLD GTYKQVIALA DAVEENQGNL 

       730        740        750        760        770        780 
FQSFTRLKSA THLVILLIAL WQKLSADQVA ILEAAFLPLQ EDTQELGWEE TVDAAISHLL 

       790        800        810        820        830        840 
KTCLSKSSKE QALNLNSQLN IPKDTSQLKK HITLLCDRLS KGGRLCLSTD AAAPQTMVMP 

       850        860        870        880 
GGCTTIPESD LEERSVEQDS TELFTNHRHL TAETPRPEVS PLQGVSE 

« Hide

Isoform 2 [UniParc].

Checksum: 2D2E7159015D0591
Show »

FASTA84794,808
Isoform 3 [UniParc].

Checksum: 7E1E2259CE89AB3B
Show »

FASTA88799,416
Isoform 4 [UniParc].

Checksum: 9E1C051A8C496E54
Show »

FASTA85295,375
Isoform 5 [UniParc].

Checksum: F1C67C25D9975922
Show »

FASTA31034,769
Isoform 6 [UniParc].

Checksum: 86700B71620E909F
Show »

FASTA48153,725
Isoform 7 [UniParc].

Checksum: F67942202E8979E4
Show »

FASTA88298,683

References

« Hide 'large scale' references
[1]"The DNA sequence of human chromosome 7."
Hillier L.W., Fulton R.S., Fulton L.A., Graves T.A., Pepin K.H., Wagner-McPherson C., Layman D., Maas J., Jaeger S., Walker R., Wylie K., Sekhon M., Becker M.C., O'Laughlin M.D., Schaller M.E., Fewell G.A., Delehaunty K.D., Miner T.L. expand/collapse author list , Nash W.E., Cordes M., Du H., Sun H., Edwards J., Bradshaw-Cordum H., Ali J., Andrews S., Isak A., Vanbrunt A., Nguyen C., Du F., Lamar B., Courtney L., Kalicki J., Ozersky P., Bielicki L., Scott K., Holmes A., Harkins R., Harris A., Strong C.M., Hou S., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Leonard S., Rohlfing T., Rock S.M., Tin-Wollam A.-M., Abbott A., Minx P., Maupin R., Strowmatt C., Latreille P., Miller N., Johnson D., Murray J., Woessner J.P., Wendl M.C., Yang S.-P., Schultz B.R., Wallis J.W., Spieth J., Bieri T.A., Nelson J.O., Berkowicz N., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Bedell J.A., Mardis E.R., Clifton S.W., Chissoe S.L., Marra M.A., Raymond C., Haugen E., Gillett W., Zhou Y., James R., Phelps K., Iadanoto S., Bubb K., Simms E., Levy R., Clendenning J., Kaul R., Kent W.J., Furey T.S., Baertsch R.A., Brent M.R., Keibler E., Flicek P., Bork P., Suyama M., Bailey J.A., Portnoy M.E., Torrents D., Chinwalla A.T., Gish W.R., Eddy S.R., McPherson J.D., Olson M.V., Eichler E.E., Green E.D., Waterston R.H., Wilson R.K.
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[2]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 5).
Tissue: Uterus.
[3]"Identification of a novel parathyroid hormone-responsive gene in human osteoblastic cells."
Adams A.E., Rosenblatt M., Suva L.J.
Bone 24:305-313(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 20-887 (ISOFORM 2), INDUCTION, TISSUE SPECIFICITY.
Tissue: Osteosarcoma.
[4]"Positional candidates for the RP9 retinitis pigmentosa gene."
Keen T.J.
Submitted (JAN-1997) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 424-887 (ISOFORM 4), NUCLEOTIDE SEQUENCE [MRNA] OF 611-887 (ISOFORM 1), NUCLEOTIDE SEQUENCE [MRNA] OF 435-887 (ISOFORM 3), NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 842-887.
Tissue: Brain and Spleen.
[5]"The parathyroid hormone-responsive B1 gene is interrupted by a t(1;7)(q42;p15) breakpoint associated with Wilms' tumour."
Vernon E.G., Malik K., Reynolds P., Powlesland R., Dallosso A.R., Jackson S., Henthorn K., Green E.D., Brown K.W.
Oncogene 22:1371-1380(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: ALTERNATIVE SPLICING (ISOFORMS 1; 2; 4 AND 6), CHROMOSOMAL TRANSLOCATION WITH OBSCN.
[6]"A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis."
Nachury M.V., Loktev A.V., Zhang Q., Westlake C.J., Peraenen J., Merdes A., Slusarski D.C., Scheller R.H., Bazan J.F., Sheffield V.C., Jackson P.K.
Cell 129:1201-1213(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBUNIT, FUNCTION, SUBCELLULAR LOCATION.
[7]"A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."
Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V., Sheffield V.C.
PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, FUNCTION OF THE BBSOME COMPLEX, INTERACTION WITH LZTL1, IDENTIFICATION IN THE BBSOME COMPLEX, SUBCELLULAR LOCATION.
[8]"Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene."
Nishimura D.Y., Swiderski R.E., Searby C.C., Berg E.M., Ferguson A.L., Hennekam R.C.M., Merin S., Weleber R.G., Biesecker L.G., Stone E.M., Sheffield V.C.
Am. J. Hum. Genet. 77:1021-1033(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT BBS9 ARG-141, TISSUE SPECIFICITY.
[9]"BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition."
Deveault C., Billingsley G., Duncan J.L., Bin J., Theal R., Vincent A., Fieggen K.J., Gerth C., Noordeh N., Traboulsi E.I., Fishman G.A., Chitayat D., Knueppel T., Millan J.M., Munier F.L., Kennedy D., Jacobson S.G., Innes A.M. expand/collapse author list , Mitchell G.A., Boycott K., Heon E.
Hum. Mutat. 32:610-619(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ILE-549; PHE-665 AND GLN-779.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS43566.1. [Q3SYG4-1]
CCDS47572.1. [Q3SYG4-4]
CCDS5441.1. [Q3SYG4-2]
RefSeqNP_001028776.1. NM_001033604.1. [Q3SYG4-4]
NP_001028777.1. NM_001033605.1. [Q3SYG4-7]
NP_055266.2. NM_014451.3. [Q3SYG4-2]
NP_940820.1. NM_198428.2. [Q3SYG4-1]
XP_006715750.1. XM_006715687.1. [Q3SYG4-1]
UniGeneHs.372360.

3D structure databases

ProteinModelPortalQ3SYG4.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid118089. 1 interaction.
DIPDIP-60358N.
IntActQ3SYG4. 12 interactions.
MINTMINT-3059897.

PTM databases

PhosphoSiteQ3SYG4.

Polymorphism databases

DMDM97180305.

Proteomic databases

MaxQBQ3SYG4.
PaxDbQ3SYG4.
PRIDEQ3SYG4.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000242067; ENSP00000242067; ENSG00000122507. [Q3SYG4-1]
ENST00000350941; ENSP00000313122; ENSG00000122507. [Q3SYG4-2]
ENST00000355070; ENSP00000347182; ENSG00000122507.
ENST00000396127; ENSP00000379433; ENSG00000122507. [Q3SYG4-4]
ENST00000425508; ENSP00000405151; ENSG00000122507. [Q3SYG4-5]
GeneID27241.
KEGGhsa:27241.
UCSCuc003tdn.1. human. [Q3SYG4-1]
uc003tdo.1. human. [Q3SYG4-4]
uc003tdq.1. human. [Q3SYG4-2]

Organism-specific databases

CTD27241.
GeneCardsGC07P033168.
GeneReviewsBBS9.
HGNCHGNC:30000. BBS9.
HPAHPA021289.
MIM209900. phenotype.
607968. gene.
neXtProtNX_Q3SYG4.
Orphanet110. Bardet-Biedl syndrome.
PharmGKBPA162377359.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG329692.
HOVERGENHBG082225.
OMAVNVMGFR.
OrthoDBEOG7W153P.
PhylomeDBQ3SYG4.
TreeFamTF314513.

Gene expression databases

ArrayExpressQ3SYG4.
BgeeQ3SYG4.
GenevestigatorQ3SYG4.

Family and domain databases

InterProIPR028074. PHTB1_C_dom.
IPR028073. PHTB1_N_dom.
IPR026511. PTHB1.
[Graphical view]
PANTHERPTHR20991:SF0. PTHR20991:SF0. 1 hit.
PfamPF14728. PHTB1_C. 1 hit.
PF14727. PHTB1_N. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSBBS9. human.
GeneWikiBBS9.
GenomeRNAi27241.
NextBio50129.
PROQ3SYG4.
SOURCESearch...

Entry information

Entry namePTHB1_HUMAN
AccessionPrimary (citable) accession number: Q3SYG4
Secondary accession number(s): E9PDC9 expand/collapse secondary AC list , P78514, Q7KYS6, Q7KYS7, Q8N570, Q99844, Q99854, Q9Y699, Q9Y6A0
Entry history
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: October 11, 2005
Last modified: July 9, 2014
This is version 81 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 7

Human chromosome 7: entries, gene names and cross-references to MIM