InnateDB Protein
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IDBP-78598.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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POF1B
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Protein Name
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premature ovarian failure, 1B
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000362238
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InnateDB Gene
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IDBG-78592 (POF1B)
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Protein Structure
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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}.
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Subcellular Localization |
Cell junction, tight junction {ECO:0000269PubMed:21940798}.
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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.
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Tissue Specificity |
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 10 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
10
[view]
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Protein-Protein |
10
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
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PFAM |
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
Q8WVV4
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PhosphoSite |
PhosphoSite-
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
79983
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UniGene |
Hs.605756
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RefSeq |
XP_005262259
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HUGO |
HGNC:13711
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OMIM |
300603
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CCDS |
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HPRD |
06679
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IMGT |
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EMBL |
AF309774
AK025039
AK025080
AK026445
AK290360
AK314295
AL117325
BC017500
CH471104
Z82216
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GenPept |
AAH17500
AAM93270
BAB15055
BAB15061
BAB15485
BAF83049
BAG36950
CAI42100
CAI42101
CAI43050
CAI43051
EAW98561
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