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Q3SYG4

- PTHB1_HUMAN

UniProt

Q3SYG4 - PTHB1_HUMAN

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Protein

Protein PTHB1

Gene
BBS9, PTHB1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - 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

GO - Molecular functioni

  1. protein binding Source: UniProtKB

GO - Biological processi

  1. cell projection organization Source: UniProtKB-KW
  2. fat cell differentiation Source: BHF-UCL
  3. protein transport Source: UniProtKB-KW
  4. response to stimulus Source: UniProtKB-KW
  5. visual perception Source: UniProtKB-KW
Complete GO annotation...

Keywords - Biological processi

Cilium biogenesis/degradation, Protein transport, Sensory transduction, Transport, Vision

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
ProteomesiUP000005640: Chromosome 7

Organism-specific databases

HGNCiHGNC:30000. BBS9.

Subcellular locationi

Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cell projectioncilium membrane. Cytoplasm. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriolar satellite 2 Publications

GO - Cellular componenti

  1. BBSome Source: UniProtKB
  2. ciliary membrane Source: UniProtKB-SubCell
  3. cilium Source: UniProtKB
  4. cytoplasm Source: UniProtKB-SubCell
  5. microtubule organizing center Source: UniProtKB-SubCell
Complete GO annotation...

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.
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.1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti141 – 1411G → R in BBS9. 1 Publication
VAR_026389

Keywords - Diseasei

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

Organism-specific databases

MIMi209900. phenotype.
Orphaneti110. Bardet-Biedl syndrome.
PharmGKBiPA162377359.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 887887Protein PTHB1PRO_0000235269Add
BLAST

Proteomic databases

MaxQBiQ3SYG4.
PaxDbiQ3SYG4.
PRIDEiQ3SYG4.

PTM databases

PhosphoSiteiQ3SYG4.

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

ArrayExpressiQ3SYG4.
BgeeiQ3SYG4.
GenevestigatoriQ3SYG4.

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

WithEntry#Exp.IntActNotes
BBS1Q8NFJ96EBI-2826852,EBI-1805484
BBS10Q8TAM12EBI-2826852,EBI-6128013
BBS12Q6ZW612EBI-2826852,EBI-6128352
BBS2Q9BXC99EBI-2826852,EBI-748297
BBS5Q8N3I73EBI-2826852,EBI-2892592
LZTFL1Q9NQ486EBI-2826852,EBI-2824799
TTC8Q8TAM22EBI-2826852,EBI-2892638

Protein-protein interaction databases

BioGridi118089. 1 interaction.
DIPiDIP-60358N.
IntActiQ3SYG4. 12 interactions.
MINTiMINT-3059897.

Structurei

3D structure databases

ProteinModelPortaliQ3SYG4.

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni685 – 76581Interaction with LZTL1Add
BLAST

Phylogenomic databases

eggNOGiNOG329692.
HOVERGENiHBG082225.
OMAiVNVMGFR.
OrthoDBiEOG7W153P.
PhylomeDBiQ3SYG4.
TreeFamiTF314513.

Family and domain databases

InterProiIPR028074. PHTB1_C_dom.
IPR028073. PHTB1_N_dom.
IPR026511. PTHB1.
[Graphical view]
PANTHERiPTHR20991:SF0. PTHR20991:SF0. 1 hit.
PfamiPF14728. PHTB1_C. 1 hit.
PF14727. PHTB1_N. 1 hit.
[Graphical view]

Sequences (7)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. Align

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

MSLFKARDWW STILGDKEEF DQGCLCLANV DNSGNGQDKI IVGSFMGYLR    50
IFSPHPAKTG DGAQAEDLLL EVDLRDPVLQ VEVGKFVSGT EMLHLAVLHS 100
RKLCVYSVSG TLGNVEHGNQ CQMKLMYEHN LQRTACNMTY GSFGGVKGRD 150
LICIQSMDGM LMVFEQESYA FGRFLPGFLL PGPLAYSSRT DSFLTVSSCQ 200
QVESYKYQVL AFATDADKRQ ETEQQKLGSG KRLVVDWTLN IGEQALDICI 250
VSFNQSASSV FVLGERNFFC LKDNGQIRFM KKLDWSPSCF LPYCSVSEGT 300
INTLIGNHNN MLHIYQDVTL KWATQLPHIP VAVRVGCLHD LKGVIVTLSD 350
DGHLQCSYLG TDPSLFQAPN VQSRELNYDE LDVEMKELQK IIKDVNKSQG 400
VWPMTEREDD LNVSVVVSPN FDSVSQATDV EVGTDLVPSV TVKVTLQNRV 450
ILQKAKLSVY VQPPLELTCD QFTFEFMTPD LTRTVSFSVY LKRSYTPSEL 500
EGNAVVSYSR PTDRNPDGIP RVIQCKFRLP LKLICLPGQP SKTASHKITI 550
DTNKSPVSLL SLFPGFASQS DDDQVNVMGF HFLGGARITV LASKTSQRYR 600
IQSEQFEDLW LITNELILRL QEYFEKQGVK DFACSFSGSI PLQEYFELID 650
HHFELRINGE KLEELLSERA VQFRAIQRRL LARFKDKTPA PLQHLDTLLD 700
GTYKQVIALA DAVEENQGNL FQSFTRLKSA THLVILLIAL WQKLSADQVA 750
ILEAAFLPLQ EDTQELGWEE TVDAAISHLL KTCLSKSSKE QALNLNSQLN 800
IPKDTSQLKK HITLLCDRLS KGGRLCLSTD AAAPQTMVMP GGCTTIPESD 850
LEERSVEQDS TELFTNHRHL TAETPRPEVS PLQGVSE 887
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 AAD25980.1 differs from that shown. Reason: Chimera.
The sequence AAD25981.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti12 – 121T → A.
Corresponds to variant rs4498440 [ dbSNP | Ensembl ].
VAR_051289
Natural varianti141 – 1411G → R in BBS9. 1 Publication
VAR_026389
Natural varianti455 – 4551A → T.
Corresponds to variant rs11773504 [ dbSNP | Ensembl ].
VAR_051290
Natural varianti455 – 4551A → V.
Corresponds to variant rs11773504 [ dbSNP | Ensembl ].
VAR_026390
Natural varianti521 – 5211R → Q.
Corresponds to variant rs34218557 [ dbSNP | Ensembl ].
VAR_051291
Natural varianti549 – 5491T → I.1 Publication
Corresponds to variant rs59252892 [ dbSNP | Ensembl ].
VAR_066292
Natural varianti665 – 6651L → F.1 Publication
Corresponds to variant rs116262072 [ dbSNP | Ensembl ].
VAR_066293
Natural varianti779 – 7791L → Q.1 Publication
Corresponds to variant rs142434516 [ dbSNP | Ensembl ].
VAR_066294

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4545Missing in isoform 5. VSP_018421Add
BLAST
Alternative sequencei339 – 35517HDLKG…DGHLQ → QFSLWKHLLPRSSTLEK in isoform 5. VSP_018422Add
BLAST
Alternative sequencei356 – 887532Missing in isoform 5. VSP_018423Add
BLAST
Alternative sequencei478 – 51841TPDLT…RNPDG → S in isoform 2. VSP_018426Add
BLAST
Alternative sequencei478 – 51336TPDLT…SRPTD → N in isoform 4. VSP_018427Add
BLAST
Alternative sequencei478 – 4814TPDL → IFSS in isoform 6. VSP_018424
Alternative sequencei482 – 887406Missing in isoform 6. VSP_018425Add
BLAST
Alternative sequencei513 – 5175Missing in isoform 7. VSP_054063
Alternative sequencei878 – 88710EVSPLQGVSE → GKRLDGLHKR in isoform 3. VSP_018428

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti282 – 2821K → R in AAD25981. 1 Publication
Sequence conflicti759 – 7591L → V in AAB47568. 1 Publication

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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_055266.2. NM_014451.3. [Q3SYG4-2]
NP_940820.1. NM_198428.2. [Q3SYG4-1]
XP_006715750.1. XM_006715687.1. [Q3SYG4-1]
UniGeneiHs.372360.

Genome annotation databases

EnsembliENST00000242067; ENSP00000242067; ENSG00000122507. [Q3SYG4-1]
ENST00000350941; ENSP00000313122; ENSG00000122507. [Q3SYG4-2]
ENST00000355070; ENSP00000347182; ENSG00000122507.
ENST00000396127; ENSP00000379433; ENSG00000122507. [Q3SYG4-4]
ENST00000425508; ENSP00000405151; ENSG00000122507. [Q3SYG4-5]
GeneIDi27241.
KEGGihsa:27241.
UCSCiuc003tdn.1. human. [Q3SYG4-1]
uc003tdo.1. human. [Q3SYG4-4]
uc003tdq.1. human. [Q3SYG4-2]

Polymorphism databases

DMDMi97180305.

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
CCDSi CCDS34618.1. [Q3SYG4-7 ]
CCDS43566.1. [Q3SYG4-1 ]
CCDS47572.1. [Q3SYG4-4 ]
CCDS5441.1. [Q3SYG4-2 ]
RefSeqi NP_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 ]
UniGenei Hs.372360.

3D structure databases

ProteinModelPortali Q3SYG4.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 118089. 1 interaction.
DIPi DIP-60358N.
IntActi Q3SYG4. 12 interactions.
MINTi MINT-3059897.

PTM databases

PhosphoSitei Q3SYG4.

Polymorphism databases

DMDMi 97180305.

Proteomic databases

MaxQBi Q3SYG4.
PaxDbi Q3SYG4.
PRIDEi Q3SYG4.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000242067 ; ENSP00000242067 ; ENSG00000122507 . [Q3SYG4-1 ]
ENST00000350941 ; ENSP00000313122 ; ENSG00000122507 . [Q3SYG4-2 ]
ENST00000355070 ; ENSP00000347182 ; ENSG00000122507 .
ENST00000396127 ; ENSP00000379433 ; ENSG00000122507 . [Q3SYG4-4 ]
ENST00000425508 ; ENSP00000405151 ; ENSG00000122507 . [Q3SYG4-5 ]
GeneIDi 27241.
KEGGi hsa:27241.
UCSCi uc003tdn.1. human. [Q3SYG4-1 ]
uc003tdo.1. human. [Q3SYG4-4 ]
uc003tdq.1. human. [Q3SYG4-2 ]

Organism-specific databases

CTDi 27241.
GeneCardsi GC07P033168.
GeneReviewsi BBS9.
HGNCi HGNC:30000. BBS9.
HPAi HPA021289.
MIMi 209900. phenotype.
607968. gene.
neXtProti NX_Q3SYG4.
Orphaneti 110. Bardet-Biedl syndrome.
PharmGKBi PA162377359.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG329692.
HOVERGENi HBG082225.
OMAi VNVMGFR.
OrthoDBi EOG7W153P.
PhylomeDBi Q3SYG4.
TreeFami TF314513.

Miscellaneous databases

ChiTaRSi BBS9. human.
GeneWikii BBS9.
GenomeRNAii 27241.
NextBioi 50129.
PROi Q3SYG4.
SOURCEi Search...

Gene expression databases

ArrayExpressi Q3SYG4.
Bgeei Q3SYG4.
Genevestigatori Q3SYG4.

Family and domain databases

InterProi IPR028074. PHTB1_C_dom.
IPR028073. PHTB1_N_dom.
IPR026511. PTHB1.
[Graphical view ]
PANTHERi PTHR20991:SF0. PTHR20991:SF0. 1 hit.
Pfami PF14728. PHTB1_C. 1 hit.
PF14727. PHTB1_N. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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. Cited for: VARIANTS ILE-549; PHE-665 AND GLN-779.

Entry informationi

Entry nameiPTHB1_HUMAN
AccessioniPrimary (citable) accession number: Q3SYG4
Secondary accession number(s): E9PDC9
, P78514, Q7KYS6, Q7KYS7, Q8N570, Q99844, Q99854, Q9Y699, Q9Y6A0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 16, 2006
Last sequence update: October 11, 2005
Last modified: September 3, 2014
This is version 82 of the entry and version 1 of the sequence. [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

Complete proteome, Reference proteome

Documents

  1. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

External Data

Dasty 3

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