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Q6QHK4

- FIGLA_HUMAN

UniProt

Q6QHK4 - FIGLA_HUMAN

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Protein

Factor in the germline alpha

Gene

FIGLA

Organism
Homo sapiens (Human)
Status
Reviewed - 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

  1. DNA binding Source: UniProtKB-KW
  2. transcription factor binding Source: UniProtKB

GO - Biological processi

  1. multicellular organismal development Source: UniProtKB-KW
  2. oocyte development Source: UniProtKB
  3. regulation of transcription, DNA-templated Source: UniProtKB-KW
  4. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Oogenesis, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

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
ProteomesiUP000005640: Chromosome 2

Organism-specific databases

HGNCiHGNC:24669. FIGLA.

Subcellular locationi

Nucleus Curated

GO - Cellular componenti

  1. nucleus Source: UniProtKB-KW
  2. transcription factor complex Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

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.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti140 – 1401Missing in POF6; one individual with premature ovarian failure. 1 Publication
VAR_046777

Keywords - Diseasei

Premature ovarian failure

Organism-specific databases

MIMi612310. phenotype.
Orphaneti619. Primary ovarian failure.
PharmGKBiPA145008379.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 219219Factor in the germline alphaPRO_0000127179Add
BLAST

Proteomic databases

PaxDbiQ6QHK4.
PRIDEiQ6QHK4.

PTM databases

PhosphoSiteiQ6QHK4.

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

BgeeiQ6QHK4.
CleanExiHS_FIGLA.
GenevestigatoriQ6QHK4.

Interactioni

Subunit structurei

Heterodimer with TCF3/isoform E12.

Protein-protein interaction databases

STRINGi9606.ENSP00000333097.

Structurei

3D structure databases

ProteinModelPortaliQ6QHK4.
SMRiQ6QHK4. Positions 66-121.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini65 – 11753bHLHPROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG316826.
GeneTreeiENSGT00440000033552.
HOGENOMiHOG000112589.
HOVERGENiHBG051616.
InParanoidiQ6QHK4.
KOiK09066.
OMAiSKKQDPD.
OrthoDBiEOG7KH9MK.
PhylomeDBiQ6QHK4.
TreeFamiTF351992.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

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)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti4 – 41A → E.1 Publication
VAR_046776
Natural varianti140 – 1401Missing in POF6; one individual with premature ovarian failure. 1 Publication
VAR_046777
Natural varianti141 – 1411S → T.2 Publications
Corresponds to variant rs7566476 [ dbSNP | Ensembl ].
VAR_046778

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.

Polymorphism databases

DMDMi296434505.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

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.
CCDSi CCDS46320.1.
RefSeqi NP_001004311.2. NM_001004311.3.
UniGenei Hs.407636.

3D structure databases

ProteinModelPortali Q6QHK4.
SMRi Q6QHK4. Positions 66-121.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000333097.

PTM databases

PhosphoSitei Q6QHK4.

Polymorphism databases

DMDMi 296434505.

Proteomic databases

PaxDbi Q6QHK4.
PRIDEi Q6QHK4.

Protocols and materials databases

DNASUi 344018.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000332372 ; ENSP00000333097 ; ENSG00000183733 .
GeneIDi 344018.
KEGGi hsa:344018.
UCSCi uc002she.1. human.

Organism-specific databases

CTDi 344018.
GeneCardsi GC02M071004.
H-InvDB HIX0029909.
HGNCi HGNC:24669. FIGLA.
MIMi 608697. gene.
612310. phenotype.
neXtProti NX_Q6QHK4.
Orphaneti 619. Primary ovarian failure.
PharmGKBi PA145008379.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG316826.
GeneTreei ENSGT00440000033552.
HOGENOMi HOG000112589.
HOVERGENi HBG051616.
InParanoidi Q6QHK4.
KOi K09066.
OMAi SKKQDPD.
OrthoDBi EOG7KH9MK.
PhylomeDBi Q6QHK4.
TreeFami TF351992.

Miscellaneous databases

GeneWikii FIGLA.
GenomeRNAii 344018.
NextBioi 98626.
PROi Q6QHK4.
SOURCEi Search...

Gene expression databases

Bgeei Q6QHK4.
CleanExi HS_FIGLA.
Genevestigatori Q6QHK4.

Family and domain databases

Gene3Di 4.10.280.10. 1 hit.
InterProi IPR011598. bHLH_dom.
[Graphical view ]
Pfami PF00010. HLH. 1 hit.
[Graphical view ]
SMARTi SM00353. HLH. 1 hit.
[Graphical view ]
SUPFAMi SSF47459. SSF47459. 1 hit.
PROSITEi PS50888. BHLH. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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.
    , 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.

Entry informationi

Entry nameiFIGLA_HUMAN
AccessioniPrimary (citable) accession number: Q6QHK4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: August 16, 2004
Last sequence update: May 18, 2010
Last modified: October 29, 2014
This is version 96 of the entry and version 2 of the sequence. [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
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3