Q3SYG4 (PTHB1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Protein PTHB1

Alternative name(s):
Bardet-Biedl syndrome 9 protein
Parathyroid hormone-responsive B1 gene protein

Gene names

Name:	BBS9
Synonyms:	PTHB1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	887 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	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. Ref.5
Subunit structure	Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Ref.5
Subcellular location	Cytoplasm › cytoskeleton › centrosome. Cell projection › cilium membrane. Cytoplasm. Note: Localizes to nonmembranous centriolar satellites in the cytoplasm. Ref.5
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.2 Ref.6
Induction	Down-regulated by parathyroid hormone. Ref.2
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.6
Sequence caution	The sequence AAD25980.1 differs from that shown. Reason: Chimera. The sequence AAD25981.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Sensory transduction Vision
Cellular component	Cell membrane Cell projection Cilium Cytoplasm Cytoskeleton Membrane
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Bardet-Biedl syndrome Ciliopathy Disease mutation Mental retardation Obesity
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	fat cell differentiation Inferred from sequence or structural similarity. Source: BHF-UCL response to stimulus Inferred from electronic annotation. Source: UniProtKB-KW visual perception Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	BBSome Inferred from direct assay Ref.5. Source: BHF-UCL cilium membrane Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasm Inferred from direct assay. Source: HPA microtubule organizing center Inferred from electronic annotation. Source: UniProtKB-SubCell nucleus Inferred from direct assay. Source: HPA plasma membrane Inferred from direct assay. Source: HPA
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
BBS1	Q8NFJ9	6	EBI-2826852,EBI-1805484
BBS10	Q8TAM1	2	EBI-2826852,EBI-6128013
BBS12	Q6ZW61	2	EBI-2826852,EBI-6128352
BBS2	Q9BXC9	9	EBI-2826852,EBI-748297
BBS5	Q8N3I7	3	EBI-2826852,EBI-2892592
LZTFL1	Q9NQ48	6	EBI-2826852,EBI-2824799
TTC8	Q8TAM2	2	EBI-2826852,EBI-2892638

Alternative products

This entry describes 6 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.

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 887	887	Protein PTHB1		PRO_0000235269
Natural variations
	Alternative sequence	1 – 45	45	Missing in isoform 5.		VSP_018421
	Alternative sequence	339 – 355	17	HDLKG…DGHLQ → QFSLWKHLLPRSSTLEK in isoform 5.		VSP_018422
	Alternative sequence	356 – 887	532	Missing in isoform 5.		VSP_018423
	Alternative sequence	478 – 518	41	TPDLT…RNPDG → S in isoform 2.		VSP_018426
	Alternative sequence	478 – 513	36	TPDLT…SRPTD → N in isoform 4.		VSP_018427
	Alternative sequence	478 – 481	4	TPDL → IFSS in isoform 6.		VSP_018424
	Alternative sequence	482 – 887	406	Missing in isoform 6.		VSP_018425
	Alternative sequence	878 – 887	10	EVSPLQGVSE → GKRLDGLHKR in isoform 3.		VSP_018428
	Natural variant	12	1	T → A. Corresponds to variant rs4498440 [ dbSNP | Ensembl ].		VAR_051289
	Natural variant	141	1	G → R in BBS9. Ref.6		VAR_026389
	Natural variant	455	1	A → T. Corresponds to variant rs11773504 [ dbSNP | Ensembl ].		VAR_051290
	Natural variant	455	1	A → V. Corresponds to variant rs11773504 [ dbSNP | Ensembl ].		VAR_026390
	Natural variant	521	1	R → Q. Corresponds to variant rs34218557 [ dbSNP | Ensembl ].		VAR_051291
	Natural variant	549	1	T → I. Ref.7 Corresponds to variant rs59252892 [ dbSNP | Ensembl ].		VAR_066292
	Natural variant	665	1	L → F. Ref.7 Corresponds to variant rs116262072 [ dbSNP | Ensembl ].		VAR_066293
	Natural variant	779	1	L → Q. Ref.7 Corresponds to variant rs142434516 [ dbSNP | Ensembl ].		VAR_066294
Experimental info
	Sequence conflict	282	1	K → R in AAD25981. Ref.2
	Sequence conflict	759	1	L → V in AAB47568. Ref.3

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified October 11, 2005. Version 1. Checksum: 8E333B7680243B7A	FASTA	887	99,280
	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
	Isoform 2 [UniParc]. Checksum: 2D2E7159015D0591	FASTA	847	94,808
	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 QFTFEFMSIP 490 500 510 520 530 540 RVIQCKFRLP LKLICLPGQP SKTASHKITI DTNKSPVSLL SLFPGFASQS DDDQVNVMGF 550 560 570 580 590 600 HFLGGARITV LASKTSQRYR IQSEQFEDLW LITNELILRL QEYFEKQGVK DFACSFSGSI 610 620 630 640 650 660 PLQEYFELID HHFELRINGE KLEELLSERA VQFRAIQRRL LARFKDKTPA PLQHLDTLLD 670 680 690 700 710 720 GTYKQVIALA DAVEENQGNL FQSFTRLKSA THLVILLIAL WQKLSADQVA ILEAAFLPLQ 730 740 750 760 770 780 EDTQELGWEE TVDAAISHLL KTCLSKSSKE QALNLNSQLN IPKDTSQLKK HITLLCDRLS 790 800 810 820 830 840 KGGRLCLSTD AAAPQTMVMP GGCTTIPESD LEERSVEQDS TELFTNHRHL TAETPRPEVS PLQGVSE
	Isoform 3 [UniParc]. Checksum: 7E1E2259CE89AB3B	FASTA	887	99,416
	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 TAETPRPGKR LDGLHKR
	Isoform 4 [UniParc]. Checksum: 9E1C051A8C496E54	FASTA	852	95,375
	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 QFTFEFMNRN 490 500 510 520 530 540 PDGIPRVIQC KFRLPLKLIC LPGQPSKTAS HKITIDTNKS PVSLLSLFPG FASQSDDDQV 550 560 570 580 590 600 NVMGFHFLGG ARITVLASKT SQRYRIQSEQ FEDLWLITNE LILRLQEYFE KQGVKDFACS 610 620 630 640 650 660 FSGSIPLQEY FELIDHHFEL RINGEKLEEL LSERAVQFRA IQRRLLARFK DKTPAPLQHL 670 680 690 700 710 720 DTLLDGTYKQ VIALADAVEE NQGNLFQSFT RLKSATHLVI LLIALWQKLS ADQVAILEAA 730 740 750 760 770 780 FLPLQEDTQE LGWEETVDAA ISHLLKTCLS KSSKEQALNL NSQLNIPKDT SQLKKHITLL 790 800 810 820 830 840 CDRLSKGGRL CLSTDAAAPQ TMVMPGGCTT IPESDLEERS VEQDSTELFT NHRHLTAETP 850 RPEVSPLQGV SE
	Isoform 5 [UniParc]. Checksum: F1C67C25D9975922	FASTA	310	34,769
	10 20 30 40 50 60 MGYLRIFSPH PAKTGDGAQA EDLLLEVDLR DPVLQVEVGK FVSGTEMLHL AVLHSRKLCV 70 80 90 100 110 120 YSVSGTLGNV EHGNQCQMKL MYEHNLQRTA CNMTYGSFGG VKGRDLICIQ SMDGMLMVFE 130 140 150 160 170 180 QESYAFGRFL PGFLLPGPLA YSSRTDSFLT VSSCQQVESY KYQVLAFATD ADKRQETEQQ 190 200 210 220 230 240 KLGSGKRLVV DWTLNIGEQA LDICIVSFNQ SASSVFVLGE RNFFCLKDNG QIRFMKKLDW 250 260 270 280 290 300 SPSCFLPYCS VSEGTINTLI GNHNNMLHIY QDVTLKWATQ LPHIPVAVRV GCLQFSLWKH 310 LLPRSSTLEK
	Isoform 6 [UniParc]. Checksum: 86700B71620E909F	FASTA	481	53,725
	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 QFTFEFMIFS S

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"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.
[2]	"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.
[3]	"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.
[4]	"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.
[5]	"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.
[6]	"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.
[7]	"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. , 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.

Web resources

GeneReviews

Cross-references

Sequence databases
EMBL GenBank DDBJ	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.
IPI	IPI00166804. IPI00477766. IPI00479833. IPI00651741. IPI00658164. IPI00748340.
RefSeq	NP_001028776.1. NM_001033604.1. NP_001028777.1. NM_001033605.1. NP_055266.2. NM_014451.3. NP_940820.1. NM_198428.2.
UniGene	Hs.372360.
3D structure databases
ProteinModelPortal	Q3SYG4.
ModBase	Search...
Protein-protein interaction databases
IntAct	Q3SYG4. 11 interactions.
MINT	MINT-3059897.
PTM databases
PhosphoSite	Q3SYG4.
Polymorphism databases
DMDM	97180305.
Proteomic databases
PaxDb	Q3SYG4.
PRIDE	Q3SYG4.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000242067; ENSP00000242067; ENSG00000122507. ENST00000350941; ENSP00000313122; ENSG00000122507. ENST00000396127; ENSP00000379433; ENSG00000122507. ENST00000425508; ENSP00000405151; ENSG00000122507.
GeneID	27241.
KEGG	hsa:27241.
UCSC	uc003tdn.1. human. uc003tdo.1. human. uc003tdq.1. human.
Organism-specific databases
CTD	27241.
GeneCards	GC07P033168.
HGNC	HGNC:30000. BBS9.
HPA	HPA021289.
MIM	209900. phenotype. 607968. gene.
neXtProt	NX_Q3SYG4.
Orphanet	110. Bardet-Biedl syndrome.
PharmGKB	PA162377359.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG329692.
HOVERGEN	HBG082225.
OMA	PLQEDTQ.
OrthoDB	EOG4Z36D1.
Gene expression databases
ArrayExpress	Q3SYG4.
Bgee	Q3SYG4.
Genevestigator	Q3SYG4.
Family and domain databases
InterPro	IPR026511. PTHB1. [Graphical view]
PANTHER	PTHR20991. PTHR20991. 1 hit.
ProtoNet	Search...
Other
ChiTaRS	BBS9. human.
GenomeRNAi	27241.
NextBio	50129.
SOURCE	Search...

Entry information

Entry name

PTHB1_HUMAN

Accession

Primary (citable) accession number: Q3SYG4
Secondary accession number(s): 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:	May 29, 2013
This is version 70 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.