InnateDB Protein
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IDBP-55621.6
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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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FIGLA
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Protein Name
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folliculogenesis specific basic helix-loop-helix
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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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ENSP00000333097
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InnateDB Gene
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IDBG-55619 (FIGLA)
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Protein Structure
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Function |
Germline specific transcription factor implicated in postnatal oocyte-specific gene expression. Plays a key regulatory role in the expression of multiple oocyte-specific genes, including those that initiate folliculogenesis and those that encode the zona pellucida (ZP1, ZP2 and ZP3) required for fertilization and early embryonic survival. Essential for oocytes to survive and form primordial follicles. The persistence of FIGLA in adult females suggests that it may regulate additional pathways that are essential for normal ovarian development. Binds to the E- box (5'-CANNTG-3') of the ZPs (ZP1, ZP2, ZP3) promoters. {ECO:0000269PubMed:15044608}.
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Subcellular Localization |
Nucleus {ECO:0000305}.
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Disease Associations |
Premature ovarian failure 6 (POF6) [MIM:612310]: 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:18499083}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Germ cells. Expressed in the fetal ovary, but not by a range of other tissues. Expression increases across mid- gestation, rising some 40-fold by the time of primordial follicle formation. {ECO:0000269PubMed:12468641, ECO:0000269PubMed:15044608}.
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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 0 experimentally validated interaction(s) in this database.
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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 |
IPR011598
Myc-type, basic helix-loop-helix (bHLH) domain
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PFAM |
PF00010
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PRINTS |
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PIRSF |
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SMART |
SM00353
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TIGRFAMs |
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Modification |
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SwissProt |
Q6QHK4
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PhosphoSite |
PhosphoSite-Q6QHK4
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
344018
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UniGene |
Hs.407636
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RefSeq |
NP_001004311
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HUGO |
HGNC:24669
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OMIM |
608697
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CCDS |
CCDS46320
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HPRD |
12279
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IMGT |
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EMBL |
AC007395
AY541030
BC039536
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GenPept |
AAS48452
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