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Q6QHK4

- FIGLA_HUMAN

UniProt

Q6QHK4 - FIGLA_HUMAN

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
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    • History
      Entry version 95 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    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

    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-SubCell
    2. transcription factor complex Source: UniProtKB

    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.
    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

    MDPAPGVLDP RAAPPALLGT PQAEVLEDVL REQFGPLPQL AAVCRLKRLP    50
    SGGYSSTENL QLVLERRRVA NAKERERIKN LNRGFARLKA LVPFLPQSRK 100
    PSKVDILKGA TEYIQVLSDL LEGAKDSKKQ DPDEQSYSNN SSESHTSSAR 150
    QLSRNITQHI SCAFGLKNEE EGPWADGGSG EPAHACRHSV MSTTEIISPT 200
    RSLDRFPEVE LLSHRLPQV 219
    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:
    EMBL
    GenBank
    DDBJ
    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:
    EMBL
    GenBank
    DDBJ
    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.
    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

    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 1, 2014
    This is version 95 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