Reviewed,
UniProtKB/Swiss-Prot Q3SYG4 (PTHB1_HUMAN)
Last modified
November 25, 2008.
Version 32.
History...
Clusters with 100%,
90%,
50% identity |
Documents (4) |
Third-party data |
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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 |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 887 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
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. |
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 stimulusInferred from electronic annotation. Source: UniProtKB-KW visual perceptionInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | BBSome Inferred from direct assay. Source: UniProtKB |
| Complete GO annotation... | |
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. |
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 | ||||||
Sequences
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References
| « Hide '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. |
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... |
Entry information
| Entry name | PTHB1_HUMAN | ||||||||
| Accession | Primary (citable) accession number: Q3SYG4 Secondary accession number(s): P78514 Q9Y6A0 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
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 |

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