Entity Details

Primary name POF1B_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8WVV4
EntryNamePOF1B_HUMAN
FullNameProtein POF1B
TaxID9606
Evidenceevidence at protein level
Length589
SequenceStatuscomplete
DateCreated2006-10-17
DateModified2021-06-02

Ontological Relatives

GenesPOF1B

GO terms

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GOName
GO:0003382 epithelial cell morphogenesis
GO:0005884 actin filament
GO:0005912 adherens junction
GO:0005923 bicellular tight junction
GO:0007015 actin filament organization
GO:0030036 actin cytoskeleton organization
GO:0030057 desmosome
GO:0051015 actin filament binding
GO:0070830 bicellular tight junction assembly

Subcellular Location

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Subcellular Location
Cell junction

Domains

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DomainNameCategoryType
IPR026186 Protein POF1BFamilyFamily

Diseases

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Disease IDSourceNameDescription
300604 OMIMPremature ovarian failure 2B (POF2B)An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. The disease is caused by variants affecting the gene represented in this entry.