LOCUS       NM_001004311             722 bp    mRNA    linear   PRI 19-SEP-2024
DEFINITION  Homo sapiens folliculogenesis specific bHLH transcription factor
            (FIGLA), mRNA.
ACCESSION   NM_001004311 XM_496553
VERSION     NM_001004311.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 722)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 722)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   3  (bases 1 to 722)
  AUTHORS   Yuan,P., He,Z., Sun,S., Li,Y., Wang,W., Liang,X., Xie,X., Jiang,Y.
            and Yang,D.
  TITLE     Bi-allelic recessive loss-of-function mutations in FIGLA cause
            premature ovarian insufficiency with short stature
  JOURNAL   Clin Genet 95 (3), 409-414 (2019)
   PUBMED   30474133
  REMARK    GeneRIF: Our results support the notion that bi-allelic recessive
            loss-of-function effects of FIGLA contribute to POI patients with
            short stature and expand the FIGLA-related phenotypic spectrum.
REFERENCE   4  (bases 1 to 722)
  AUTHORS   Chen,B., Li,L., Wang,J., Li,T., Pan,H., Liu,B., Zhou,Y., Cao,Y. and
            Wang,B.
  TITLE     Consanguineous familial study revealed biallelic FIGLA mutation
            associated with premature ovarian insufficiency
  JOURNAL   J Ovarian Res 11 (1), 48 (2018)
   PUBMED   29914564
  REMARK    GeneRIF: Biallelic mutations in FIGLA may be the cause of premature
            ovarian insufficiency (POI) . This study will aid researchers and
            clinicians in genetic counseling of POI and provides new insights
            into understanding the mode of genetic inheritance of FIGLA
            mutations in POI pathology.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 722)
  AUTHORS   Yin,Y., Morgunova,E., Jolma,A., Kaasinen,E., Sahu,B.,
            Khund-Sayeed,S., Das,P.K., Kivioja,T., Dave,K., Zhong,F.,
            Nitta,K.R., Taipale,M., Popov,A., Ginno,P.A., Domcke,S., Yan,J.,
            Schubeler,D., Vinson,C. and Taipale,J.
  TITLE     Impact of cytosine methylation on DNA binding specificities of
            human transcription factors
  JOURNAL   Science 356 (6337) (2017)
   PUBMED   28473536
REFERENCE   6  (bases 1 to 722)
  AUTHORS   Suzumori,N., Pangas,S.A. and Rajkovic,A.
  TITLE     Candidate genes for premature ovarian failure
  JOURNAL   Curr Med Chem 14 (3), 353-357 (2007)
   PUBMED   17305537
  REMARK    Review article
REFERENCE   7  (bases 1 to 722)
  AUTHORS   Pangas,S.A. and Rajkovic,A.
  TITLE     Transcriptional regulation of early oogenesis: in search of masters
  JOURNAL   Hum Reprod Update 12 (1), 65-76 (2006)
   PUBMED   16143663
  REMARK    Review article
REFERENCE   8  (bases 1 to 722)
  AUTHORS   Bayne,R.A., Martins da Silva,S.J. and Anderson,R.A.
  TITLE     Increased expression of the FIGLA transcription factor is
            associated with primordial follicle formation in the human fetal
            ovary
  JOURNAL   Mol Hum Reprod 10 (6), 373-381 (2004)
   PUBMED   15044608
  REMARK    GeneRIF: These results suggest that FIGLA is involved in continued
            oocyte survival as primordial follicles form in the human as in the
            rodent ovary.
REFERENCE   9  (bases 1 to 722)
  AUTHORS   Huntriss,J., Gosden,R., Hinkins,M., Oliver,B., Miller,D.,
            Rutherford,A.J. and Picton,H.M.
  TITLE     Isolation, characterization and expression of the human Factor In
            the Germline alpha (FIGLA) gene in ovarian follicles and oocytes
  JOURNAL   Mol Hum Reprod 8 (12), 1087-1095 (2002)
   PUBMED   12468641
  REMARK    GeneRIF: Expression of mRNA observed in ovarian follicles, mature
            oocytes, and less frequently in preimplantation embryos.
REFERENCE   10 (bases 1 to 722)
  AUTHORS   Miyamoto,T., Sengoku,K., Takuma,N., Hasuike,S., Hayashi,H.,
            Yamauchi,T., Yamashita,T. and Ishikawa,M.
  TITLE     Isolation and expression analysis of the testis-specific gene,
            STRA8, stimulated by retinoic acid gene 8
  JOURNAL   J Assist Reprod Genet 19 (11), 531-535 (2002)
   PUBMED   12489526
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY541030.1 and AC007395.4.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Sep 11, 2009 this sequence version replaced NM_001004311.2.
            
            Summary: This gene encodes a protein that functions in postnatal
            oocyte-specific gene expression. The protein is a basic
            helix-loop-helix transcription factor that regulates multiple
            oocyte-specific genes, including genes involved in folliculogenesis
            and those that encode the zona pellucida. Mutations in this gene
            cause premature ovarian failure type 6. [provided by RefSeq, Sep
            2009].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AY541030.1, BC039536.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2158188
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000332372.6/ ENSP00000333097.6
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-426               AY541030.1         1-426
            427-557             AC007395.4         109953-110083       c
            558-669             AY541030.1         558-669
            670-672             AC007395.4         101841-101843       c
            673-722             AY541030.1         673-722
FEATURES             Location/Qualifiers
     source          1..722
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.3"
     gene            1..722
                     /gene="FIGLA"
                     /gene_synonym="BHLHC8; FIGALPHA; POF6"
                     /note="folliculogenesis specific bHLH transcription
                     factor"
                     /db_xref="GeneID:344018"
                     /db_xref="HGNC:HGNC:24669"
                     /db_xref="MIM:608697"
     exon            1..236
                     /gene="FIGLA"
                     /gene_synonym="BHLHC8; FIGALPHA; POF6"
                     /inference="alignment:Splign:2.1.0"
     CDS             6..665
                     /gene="FIGLA"
                     /gene_synonym="BHLHC8; FIGALPHA; POF6"
                     /note="transcription factor FIGa; class C basic
                     helix-loop-helix protein 8; folliculogenesis-specific
                     basic helix-loop-helix protein"
                     /codon_start=1
                     /product="factor in the germline alpha"
                     /protein_id="NP_001004311.2"
                     /db_xref="CCDS:CCDS46320.1"
                     /db_xref="GeneID:344018"
                     /db_xref="HGNC:HGNC:24669"
                     /db_xref="MIM:608697"
                     /translation="MDPAPGVLDPRAAPPALLGTPQAEVLEDVLREQFGPLPQLAAVC
                     RLKRLPSGGYSSTENLQLVLERRRVANAKERERIKNLNRGFARLKALVPFLPQSRKPS
                     KVDILKGATEYIQVLSDLLEGAKDSKKQDPDEQSYSNNSSESHTSSARQLSRNITQHI
                     SCAFGLKNEEEGPWADGGSGEPAHACRHSVMSTTEIISPTRSLDRFPEVELLSHRLPQ
                     V"
     exon            237..389
                     /gene="FIGLA"
                     /gene_synonym="BHLHC8; FIGALPHA; POF6"
                     /inference="alignment:Splign:2.1.0"
     exon            390..614
                     /gene="FIGLA"
                     /gene_synonym="BHLHC8; FIGALPHA; POF6"
                     /inference="alignment:Splign:2.1.0"
     exon            615..649
                     /gene="FIGLA"
                     /gene_synonym="BHLHC8; FIGALPHA; POF6"
                     /inference="alignment:Splign:2.1.0"
     exon            650..722
                     /gene="FIGLA"
                     /gene_synonym="BHLHC8; FIGALPHA; POF6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      701..706
                     /regulatory_class="polyA_signal_sequence"
                     /gene="FIGLA"
                     /gene_synonym="BHLHC8; FIGALPHA; POF6"
                     /note="hexamer: AATAAA"
     polyA_site      722
                     /gene="FIGLA"
                     /gene_synonym="BHLHC8; FIGALPHA; POF6"
                     /note="major polyA site"
ORIGIN      
        1 ctgccatgga ccccgcgccc ggcgtcctag atccccgcgc cgcgccgccc gcgctcctgg
       61 gcaccccgca agccgaggtg ctggaggacg tgttgcggga gcagttcggg ccgctgcccc
      121 agctggccgc tgtctgccgg ctcaagcggc tgccctcggg cggctactcg tccactgaaa
      181 acctccagtt ggtgctggag cggcggcgtg tggccaacgc caaggagcgt gagcggataa
      241 aaaatctcaa ccgtggtttt gccagattga aggcacttgt gccatttctt ccccaaagca
      301 ggaagcccag caaagttgat atccttaaag gtgcgactga atatatacag gttctcagtg
      361 atcttttgga aggagccaaa gactcaaaga aacaagaccc agatgagcag agctatagta
      421 acaacagttc tgaatcacat acatcctcgg caagacagct gtcaagaaac atcacccaac
      481 atatcagctg tgctttcggc ttgaagaatg aagaggaagg gccttgggca gatggtggca
      541 gtggtgagcc agcacacgct tgtcgccaca gtgtgatgtc tacgactgaa attatctccc
      601 caaccagaag tctggataga ttcccagaag tagaactgct gagtcacaga cttccacaag
      661 tatgaaaaat gaaaaggccc agggttacct tctagagaca aataaatgca gtcttgaaag
      721 tt
//
