parathyroid horomone responsive B1 protein; protein PTHB1; Bardet-Biedl syndrome 9 protein (PTHB1, BBS9)

Function

• part of BBsome complex

Compartment

• cytoplasm, cytoskeleton, centrosome
• cell projection, cilium membrane. cytoplasm
• localizes to nonmembranous centriolar satellites in the cytoplasm

Alternative splicing

named isoforms=6

Expression

• widely expressed
• expressed in heart, skeletal muscle, lung, liver, kidney, placenta, brain
• down-regulated by parathyroid hormone

Pathology

• chromosomal aberration involving PTHB1 translocation t(1;7)(q42;p15) with OBSCN is found in Wilms tumor 5
• defects in PTHB1 are a cause of Bardet-Biedl syndrome type 9

More general terms

• other protein

Component of

• BBsome complex

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=27241
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:27241
• OMIM: https://mirror.omim.org/entry/209900
• OMIM: https://mirror.omim.org/entry/601583
• OMIM: https://mirror.omim.org/entry/607968
• UniProt: http://www.uniprot.org/uniprot/Q3SYG4.html