Homo sapiens Protein: FIGLA
Summary
InnateDB Protein IDBP-55621.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FIGLA
Protein Name folliculogenesis specific basic helix-loop-helix
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000333097
InnateDB Gene IDBG-55619 (FIGLA)
Protein Structure
UniProt Annotation
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}.
Subcellular Localization Nucleus {ECO:0000305}.
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.
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}.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
Gene Ontology

Molecular Function
Accession GO Term
GO:0008134 transcription factor binding
GO:0043565 sequence-specific DNA binding
GO:0046983 protein dimerization activity
Biological Process
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007275 multicellular organismal development
GO:0048599 oocyte development
Cellular Component
GO:0005634 nucleus
GO:0005667 transcription factor complex
Protein Structure and Domains
PDB ID
InterPro IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
PFAM PF00010
PRINTS
PIRSF
SMART SM00353
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q6QHK4
PhosphoSite PhosphoSite-Q6QHK4
TrEMBL
UniProt Splice Variant
Entrez Gene 344018
UniGene Hs.407636
RefSeq NP_001004311
HUGO HGNC:24669
OMIM 608697
CCDS CCDS46320
HPRD 12279
IMGT
EMBL AC007395 AY541030 BC039536
GenPept AAS48452