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Protein

Factor in the germline alpha

Gene

FIGLA

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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

HGNCiHGNC:24669. FIGLA.

Subcellular locationi

GO - Cellular componenti

  • nucleus Source: UniProtKB-SubCell
  • transcription factor complex Source: UniProtKB

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.

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.
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:rs7566476Ensembl.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

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

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: May 10, 2017
This is version 114 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

Documents

  1. Human chromosome 2
    Human chromosome 2: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot