Homo sapiens Protein: POF1B
Summary
InnateDB Protein IDBP-78598.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol POF1B
Protein Name premature ovarian failure, 1B
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000362238
InnateDB Gene IDBG-78592 (POF1B)
Protein Structure
UniProt Annotation
Function Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development. {ECO:0000269PubMed:16773570, ECO:0000269PubMed:21940798}.
Subcellular Localization Cell junction, tight junction {ECO:0000269PubMed:21940798}.
Disease Associations Premature ovarian failure 2B (POF2B) [MIM:300604]: 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. {ECO:0000269PubMed:16773570}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated
Total 10 [view]
Protein-Protein 10 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003779 actin binding
Biological Process
Cellular Component
GO:0005923 tight junction
Protein Structure and Domains
PDB ID
InterPro
PFAM
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q8WVV4
PhosphoSite PhosphoSite-
TrEMBL
UniProt Splice Variant
Entrez Gene 79983
UniGene Hs.605756
RefSeq XP_005262259
HUGO HGNC:13711
OMIM 300603
CCDS
HPRD 06679
IMGT
EMBL AF309774 AK025039 AK025080 AK026445 AK290360 AK314295 AL117325 BC017500 CH471104 Z82216
GenPept AAH17500 AAM93270 BAB15055 BAB15061 BAB15485 BAF83049 BAG36950 CAI42100 CAI42101 CAI43050 CAI43051 EAW98561