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Q6QHK4 (FIGLA_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 94. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:FIGLA
Synonyms:BHLHC8
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length219 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

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. Ref.1

Subunit structure

Heterodimer with TCF3/isoform E12

Subcellular location

Nucleus Probable.

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. Ref.1 Ref.2

Developmental stage

Expressed in ovarian follicles (from the primordial through to the secondary stage), in mature oocytes, and less frequently in preimplantation embryos. Ref.2

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.5

Sequence similarities

Contains 1 bHLH (basic helix-loop-helix) domain.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 219219Factor in the germline alpha
PRO_0000127179

Regions

Domain65 – 11753bHLH

Natural variations

Natural variant41A → E. Ref.5
VAR_046776
Natural variant1401Missing in POF6; one individual with premature ovarian failure. Ref.5
VAR_046777
Natural variant1411S → T. Ref.1 Ref.4
Corresponds to variant rs7566476 [ dbSNP | Ensembl ].
VAR_046778

Sequences

Sequence LengthMass (Da)Tools
Q6QHK4 [UniParc].

Last modified May 18, 2010. Version 2.
Checksum: 82FBD792C3AEB035

FASTA21924,123
        10         20         30         40         50         60 
MDPAPGVLDP RAAPPALLGT PQAEVLEDVL REQFGPLPQL AAVCRLKRLP SGGYSSTENL 

        70         80         90        100        110        120 
QLVLERRRVA NAKERERIKN LNRGFARLKA LVPFLPQSRK PSKVDILKGA TEYIQVLSDL 

       130        140        150        160        170        180 
LEGAKDSKKQ DPDEQSYSNN SSESHTSSAR QLSRNITQHI SCAFGLKNEE EGPWADGGSG 

       190        200        210 
EPAHACRHSV MSTTEIISPT RSLDRFPEVE LLSHRLPQV 

« Hide

References

« Hide 'large scale' references
[1]"Increased expression of the FIGLA transcription factor is associated with primordial follicle formation in the human fetal ovary."
Bayne R.A.L., Martins da Silva S.J., Anderson R.A.
Mol. Hum. Reprod. 10:373-381(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, TISSUE SPECIFICITY, INTERACTION WITH TCF3/E12, VARIANT THR-141.
[2]"Isolation, characterization and expression of the human Factor In the Germline alpha (FIGLA) gene in ovarian follicles and oocytes."
Huntriss J., Gosden R., Hinkins M., Oliver B., Miller D., Rutherford A.J., Picton H.M.
Mol. Hum. Reprod. 8:1087-1095(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
[3]"Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. expand/collapse author list , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 14-219, VARIANT THR-141.
Tissue: Brain.
[5]"Transcription factor FIGLA is mutated in patients with premature ovarian failure."
Zhao H., Chen Z.-J., Qin Y., Shi Y., Wang S., Choi Y., Simpson J.L., Rajkovic A.
Am. J. Hum. Genet. 82:1342-1348(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT POF6 ASN-140 DEL, VARIANT GLU-4.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY541030 mRNA. Translation: AAS48452.1.
AC007395 Genomic DNA. No translation available.
BC039536 mRNA. No translation available.
CCDSCCDS46320.1.
RefSeqNP_001004311.2. NM_001004311.3.
UniGeneHs.407636.

3D structure databases

ProteinModelPortalQ6QHK4.
SMRQ6QHK4. Positions 66-121.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000333097.

PTM databases

PhosphoSiteQ6QHK4.

Polymorphism databases

DMDM296434505.

Proteomic databases

PaxDbQ6QHK4.
PRIDEQ6QHK4.

Protocols and materials databases

DNASU344018.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000332372; ENSP00000333097; ENSG00000183733.
ENST00000606502; ENSP00000475436; ENSG00000272503.
GeneID344018.
KEGGhsa:344018.
UCSCuc002she.1. human.

Organism-specific databases

CTD344018.
GeneCardsGC02M071004.
H-InvDBHIX0029909.
HGNCHGNC:24669. FIGLA.
MIM608697. gene.
612310. phenotype.
neXtProtNX_Q6QHK4.
Orphanet619. Primary ovarian failure.
PharmGKBPA145008379.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG316826.
HOGENOMHOG000112589.
HOVERGENHBG051616.
InParanoidQ6QHK4.
KOK09066.
OMASKKQDPD.
OrthoDBEOG7KH9MK.
PhylomeDBQ6QHK4.
TreeFamTF351992.

Gene expression databases

BgeeQ6QHK4.
CleanExHS_FIGLA.
GenevestigatorQ6QHK4.

Family and domain databases

Gene3D4.10.280.10. 1 hit.
InterProIPR011598. bHLH_dom.
[Graphical view]
PfamPF00010. HLH. 1 hit.
[Graphical view]
SMARTSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMSSF47459. SSF47459. 1 hit.
PROSITEPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiFIGLA.
GenomeRNAi344018.
NextBio98626.
PROQ6QHK4.
SOURCESearch...

Entry information

Entry nameFIGLA_HUMAN
AccessionPrimary (citable) accession number: Q6QHK4
Entry history
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 94 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 2

Human chromosome 2: entries, gene names and cross-references to MIM