Protein PTHB1 - Homo sapiens (Human)

Names and origin

Protein names

Recommended name:
    Protein PTHB1
Alternative name(s):
    Parathyroid hormone-responsive B1 gene protein
    Bardet-Biedl syndrome 9 protein

Gene names

Name:	BBS9
Synonyms:	PTHB1

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length	887 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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General annotation (Comments)

Tissue specificity	Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain.
Induction	Down-regulated by parathyroid hormone.
Involvement in disease	A chromosomal aberration involving PTHB1 is found in Wilms tumor 5 (WT5) [MIM:601583]. Translocation t(1;7)(q42;p15) with OBSCN. Defects in BBS9 are a cause of Bardet-Biedl syndrome type 9 (BBS9) [MIM:209900]. Bardet-Biedl syndrome (BBS) is a genetically heterogeneous, autosomal recessive disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation.
Sequence caution	The sequence AAD25980.1 differs from that shown. Reason: Miscellaneous discrepancy. Chimera.

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Ontologies

Keywords
Biological process	Sensory transduction Vision
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Bardet-Biedl syndrome Disease mutation Obesity
Gene Ontology (GO)
Biological process	fat cell differentiation Inferred from sequence or structural similarity. Source: UniProtKB 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. Source: UniProtKB
Complete GO annotation...

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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.
Notes: 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.

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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

141

1

G → R in BBS9.

VAR_026389

Natural variant

455

1

A → V: dbSNP rs11773504.

VAR_026390

Experimental info

Sequence conflict

282

1

K → R in AAD25981. Ref.2

Sequence conflict

759

1

L → V in AAB47568. Ref.3

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Sequences

Sequence		Length	Mass (Da)
Isoform 1 [UniParc]. Last modified October 11, 2005. Version 1. Checksum: 8E333B7680243B7A Show »	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 « Hide
Isoform 2 [UniParc]. Checksum: 2D2E7159015D0591 Show »		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 « Hide
Isoform 3 [UniParc]. Checksum: 7E1E2259CE89AB3B Show »		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 « Hide
Isoform 4 [UniParc]. Checksum: 9E1C051A8C496E54 Show »		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 « Hide
Isoform 5 [UniParc]. Checksum: F1C67C25D9975922 Show »		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 « Hide
Isoform 6 [UniParc]. Checksum: 86700B71620E909F Show »		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 « Hide

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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: 15489334] [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: 10221542] [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: 12618763] [Abstract] Cited for: ALTERNATIVE SPLICING (ISOFORMS 1; 2; 4 AND 6), CHROMOSOMAL TRANSLOCATION WITH OBSCN.
[5]	"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: 16380913] [Abstract] Cited for: VARIANT BBS9 ARG-141, TISSUE SPECIFICITY.
+	Additional computationally mapped references.

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Web resources

GeneReviews

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Cross-references

Sequence databases
	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.
RefSeq	NP_001028776.1. NP_001028777.1. NP_055266.2. NP_940820.1.
UniGene	Hs.372360
3D structure databases
ModBase	Search...
PTM databases
PhosphoSite	Q3SYG4.
Genome annotation databases
Ensembl	ENSG00000122507. Homo sapiens. [Contig view]
GeneID	27241.
KEGG	hsa:27241.
Organism-specific databases
HGNC	HGNC:30000. BBS9.
MIM	209900. phenotype. 601583. phenotype. 607968. gene.
Orphanet	110. Bardet-Biedl syndrome.
GenAtlas	Search...
GeneCards	Search...
Phylogenomic databases
HOVERGEN	Q3SYG4.
Gene expression databases
ArrayExpress	Q3SYG4.
Family and domain databases
ProtoNet	Search...
Other Resources
NextBio	50129.
SOURCE	Search...

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Entry information

Entry name

PTHB1_HUMAN

Accession

Primary (citable) accession number: Q3SYG4
Secondary accession number(s): P78514

Q9Y6A0

Entry history

Integrated into UniProtKB/Swiss-Prot:	May 16, 2006
Last sequence update:	October 11, 2005
Last modified:	November 25, 2008
This is version 32 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 7

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

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

MIM cross-references

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

Names and origin

Protein attributes

General annotation (Comments)

Ontologies

Keywords

Gene Ontology (GO)

Alternative products

Sequence annotation (Features)

Molecule processing

Natural variations

Experimental info

Sequences

References

Web resources

Cross-references

Sequence databases

3D structure databases

PTM databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Gene expression databases

Family and domain databases

Other Resources

Entry information

Relevant documents