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Protein

Factor in the germline alpha

Gene

FIGLA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.1 Publication

GO - Molecular functioni

GO - Biological processi

  • multicellular organism development Source: UniProtKB-KW
  • oocyte development Source: UniProtKB

Keywordsi

Molecular functionDevelopmental protein, DNA-binding
Biological processDifferentiation, Oogenesis, Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
Recommended name:
Factor in the germline alpha
Short name:
FIGalpha
Alternative name(s):
Class C basic helix-loop-helix protein 8
Short name:
bHLHc8
Folliculogenesis-specific basic helix-loop-helix protein
Transcription factor FIGa
Gene namesi
Name:FIGLA
Synonyms:BHLHC8
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 2

Organism-specific databases

EuPathDBiHostDB:ENSG00000183733.6
HGNCiHGNC:24669 FIGLA
MIMi608697 gene
neXtProtiNX_Q6QHK4

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Premature ovarian failure 6 (POF6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn 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.
See also OMIM:612310
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_046777140Missing in POF6; one individual with premature ovarian failure. 1 Publication1

Keywords - Diseasei

Premature ovarian failure

Organism-specific databases

DisGeNETi344018
MalaCardsiFIGLA
MIMi612310 phenotype
OpenTargetsiENSG00000183733
Orphaneti619 Primary ovarian failure
PharmGKBiPA145008379

Polymorphism and mutation databases

BioMutaiFIGLA
DMDMi296434505

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001271791 – 219Factor in the germline alphaAdd BLAST219

Proteomic databases

PaxDbiQ6QHK4
PRIDEiQ6QHK4
ProteomicsDBi67300

PTM databases

iPTMnetiQ6QHK4
PhosphoSitePlusiQ6QHK4

Expressioni

Tissue specificityi

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.2 Publications

Developmental stagei

Expressed in ovarian follicles (from the primordial through to the secondary stage), in mature oocytes, and less frequently in preimplantation embryos.1 Publication

Gene expression databases

BgeeiENSG00000183733
CleanExiHS_FIGLA
GenevisibleiQ6QHK4 HS

Interactioni

Subunit structurei

Heterodimer with TCF3/isoform E12.

GO - Molecular functioni

  • protein dimerization activity Source: InterPro
  • transcription factor binding Source: UniProtKB

Protein-protein interaction databases

IntActiQ6QHK4, 7 interactors
STRINGi9606.ENSP00000333097

Structurei

3D structure databases

ProteinModelPortaliQ6QHK4
SMRiQ6QHK4
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini65 – 117bHLHPROSITE-ProRule annotationAdd BLAST53

Phylogenomic databases

eggNOGiKOG4029 Eukaryota
ENOG411227D LUCA
GeneTreeiENSGT00440000033552
HOGENOMiHOG000112589
HOVERGENiHBG051616
InParanoidiQ6QHK4
KOiK09066
OMAiEEGPWAD
OrthoDBiEOG091G0WBZ
PhylomeDBiQ6QHK4
TreeFamiTF351992

Family and domain databases

CDDicd00083 HLH, 1 hit
Gene3Di4.10.280.10, 1 hit
InterProiView protein in InterPro
IPR011598 bHLH_dom
IPR036638 HLH_DNA-bd_sf
PfamiView protein in Pfam
PF00010 HLH, 1 hit
SMARTiView protein in SMART
SM00353 HLH, 1 hit
SUPFAMiSSF47459 SSF47459, 1 hit
PROSITEiView protein in PROSITE
PS50888 BHLH, 1 hit

Sequencei

Sequence statusi: Complete.

Q6QHK4-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDPAPGVLDP RAAPPALLGT PQAEVLEDVL REQFGPLPQL AAVCRLKRLP
60 70 80 90 100
SGGYSSTENL QLVLERRRVA NAKERERIKN LNRGFARLKA LVPFLPQSRK
110 120 130 140 150
PSKVDILKGA TEYIQVLSDL LEGAKDSKKQ DPDEQSYSNN SSESHTSSAR
160 170 180 190 200
QLSRNITQHI SCAFGLKNEE EGPWADGGSG EPAHACRHSV MSTTEIISPT
210
RSLDRFPEVE LLSHRLPQV
Length:219
Mass (Da):24,123
Last modified:May 18, 2010 - v2
Checksum:i82FBD792C3AEB035
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0467764A → E1 PublicationCorresponds to variant dbSNP:rs71647803Ensembl.1
Natural variantiVAR_046777140Missing in POF6; one individual with premature ovarian failure. 1 Publication1
Natural variantiVAR_046778141S → T2 PublicationsCorresponds to variant dbSNP:rs7566476EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY541030 mRNA Translation: AAS48452.1
AC007395 Genomic DNA No translation available.
BC039536 mRNA No translation available.
CCDSiCCDS46320.1
RefSeqiNP_001004311.2, NM_001004311.3
UniGeneiHs.407636

Genome annotation databases

EnsembliENST00000332372; ENSP00000333097; ENSG00000183733
GeneIDi344018
KEGGihsa:344018
UCSCiuc002she.1 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiFIGLA_HUMAN
AccessioniPrimary (citable) accession number: Q6QHK4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: May 18, 2010
Last modified: June 20, 2018
This is version 120 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

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