Entity Details

Primary name PTHB1_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ3SYG4
EntryNamePTHB1_HUMAN
FullNameProtein PTHB1
TaxID9606
Evidenceevidence at protein level
Length887
SequenceStatuscomplete
DateCreated2006-05-16
DateModified2021-06-02

Ontological Relatives

GenesBBS9

GO terms

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GOName
GO:0000242 pericentriolar material
GO:0005829 cytosol
GO:0005929 cilium
GO:0007601 visual perception
GO:0015031 protein transport
GO:0016020 membrane
GO:0034451 centriolar satellite
GO:0034464 BBSome
GO:0035869 ciliary transition zone
GO:0045444 fat cell differentiation
GO:0050896 response to stimulus
GO:0060170 ciliary membrane
GO:0060271 cilium assembly
GO:0061512 protein localization to cilium

Subcellular Location

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Subcellular Location
Cell projection
Cytoplasm

Domains

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DomainNameCategoryType
IPR026511 Parathyroid hormone-responsive B1FamilyFamily
IPR028073 PTHB1, N-terminal domainDomainDomain
IPR028074 PTHB1, C-terminal domainDomainDomain

Diseases

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Disease IDSourceNameDescription
615986 OMIMBardet-Biedl syndrome 9 (BBS9)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. The disease is caused by variants affecting the gene represented in this entry.