LOCUS       NM_001101677            1368 bp    mRNA    linear   PRI 23-JUL-2024
DEFINITION  Homo sapiens spermatogenesis and oogenesis specific basic
            helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.
ACCESSION   NM_001101677
VERSION     NM_001101677.2
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 1368)
  AUTHORS   Villarroel,C.E., Zenteno,J.C., Barragan-Arevalo,T., Leal-Anaya,P.,
            Perez-Munoz,E., Frias-Soria,C.L., Lopez-Corella,E. and Yokoyama,E.
  TITLE     Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic Variant
            Causing Familial Ovarian Dysgenesis
  JOURNAL   Reprod Sci 31 (7), 1861-1867 (2024)
   PUBMED   38448741
  REMARK    GeneRIF: Dysgerminoma Probably Due to a Novel SOHLH1-pathogenic
            Variant Causing Familial Ovarian Dysgenesis.
REFERENCE   2  (bases 1 to 1368)
  AUTHORS   Liu,M., Yang,Y., Wang,Y., Chen,S. and Shen,Y.
  TITLE     The mutation c.346-1G > A in SOHLH1 impairs sperm production in the
            homozygous but not in the heterozygous condition
  JOURNAL   Hum Mol Genet 31 (7), 1013-1021 (2022)
   PUBMED   34448846
  REMARK    GeneRIF: The mutation c.346-1G > A in SOHLH1 impairs sperm
            production in the homozygous but not in the heterozygous condition.
REFERENCE   3  (bases 1 to 1368)
  AUTHORS   Desimio,M.G., Cesari,E., Sorrenti,M., De Felici,M. and Farini,D.
  TITLE     Stimulated by retinoic acid gene 8 (STRA8) interacts with the germ
            cell specific bHLH factor SOHLH1 and represses c-KIT expression in
            vitro
  JOURNAL   J Cell Mol Med 25 (1), 383-396 (2021)
   PUBMED   33236849
  REMARK    GeneRIF: Stimulated by retinoic acid gene 8 (STRA8) interacts with
            the germ cell specific bHLH factor SOHLH1 and represses c-KIT
            expression in vitro.
REFERENCE   4  (bases 1 to 1368)
  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   5  (bases 1 to 1368)
  AUTHORS   Liu,X., Gao,Q., Zhao,N., Zhang,X., Cui,W., Sun,J., Fu,J. and Hao,J.
  TITLE     Sohlh1 suppresses glioblastoma cell proliferation, migration, and
            invasion by inhibition of Wnt/beta-catenin signaling
  JOURNAL   Mol Carcinog 57 (4), 494-502 (2018)
   PUBMED   29240260
  REMARK    GeneRIF: In glioblastoma (GBM) cell lines, cellular proliferation,
            migration, and invasion were significantly enhanced after
            Spermatogenesis- and oogenesis- specific basic helix-loop-helix
            transcription factor1 (Sohlh1) knockdown, but significantly
            inhibited after Sohlh1 overexpression.
REFERENCE   6  (bases 1 to 1368)
  AUTHORS   Suzuki,H., Ahn,H.W., Chu,T., Bowden,W., Gassei,K., Orwig,K. and
            Rajkovic,A.
  TITLE     SOHLH1 and SOHLH2 coordinate spermatogonial differentiation
  JOURNAL   Dev Biol 361 (2), 301-312 (2012)
   PUBMED   22056784
REFERENCE   7  (bases 1 to 1368)
  AUTHORS   Choi,Y., Jeon,S., Choi,M., Lee,M.H., Park,M., Lee,D.R., Jun,K.Y.,
            Kwon,Y., Lee,O.H., Song,S.H., Kim,J.Y., Lee,K.A., Yoon,T.K.,
            Rajkovic,A. and Shim,S.H.
  TITLE     Mutations in SOHLH1 gene associate with nonobstructive azoospermia
  JOURNAL   Hum Mutat 31 (7), 788-793 (2010)
   PUBMED   20506135
  REMARK    GeneRIF: Findings indicate that a splice-acceptor site mutation
            that probably causes a nonfunctional SOHLH1 protein results in
            nonobstructive azoospermia by the lack of normal spermatogenesis.
            GeneRIF: Observational study of gene-disease association. (HuGE
            Navigator)
REFERENCE   8  (bases 1 to 1368)
  AUTHORS   Vaquerizas,J.M., Kummerfeld,S.K., Teichmann,S.A. and Luscombe,N.M.
  TITLE     A census of human transcription factors: function, expression and
            evolution
  JOURNAL   Nat Rev Genet 10 (4), 252-263 (2009)
   PUBMED   19274049
  REMARK    Review article
REFERENCE   9  (bases 1 to 1368)
  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   10 (bases 1 to 1368)
  AUTHORS   Pangas,S.A., Choi,Y., Ballow,D.J., Zhao,Y., Westphal,H.,
            Matzuk,M.M. and Rajkovic,A.
  TITLE     Oogenesis requires germ cell-specific transcriptional regulators
            Sohlh1 and Lhx8
  JOURNAL   Proc Natl Acad Sci U S A 103 (21), 8090-8095 (2006)
   PUBMED   16690745
  REMARK    GeneRIF: Sohlh1 and Lhx8 are two germ cell-specific, critical
            regulators of oogenesis
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL158822.19.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 2, 2019 this sequence version replaced NM_001101677.1.
            
            Summary: This gene encodes one of testis-specific transcription
            factors which are essential for spermatogenesis, oogenesis and
            folliculogenesis. This gene is located on chromosome 9. Mutations
            in this gene are associated with nonobstructive azoospermia.
            Alternatively spliced transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Aug
            2013].
            
            Transcript Variant: This variant (1) encodes the longer isoform
            (a).
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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##
            RNAseq introns :: single sample supports all introns SAMEA2158188
                              [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000425225.2/ ENSP00000404438.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-79                AL158822.19        136158-136236
            80-211              AL158822.19        136513-136644
            212-359             AL158822.19        137163-137310
            360-481             AL158822.19        138012-138133
            482-675             AL158822.19        138834-139027
            676-889             AL158822.19        140376-140589
            890-960             AL158822.19        141182-141252
            961-1368            AL158822.19        141825-142232
FEATURES             Location/Qualifiers
     source          1..1368
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.3"
     gene            1..1368
                     /gene="SOHLH1"
                     /gene_synonym="bA100C15.3; bHLHe80; C9orf157; NOHLH; ODG5;
                     SPATA27; SPGF32; TEB2"
                     /note="spermatogenesis and oogenesis specific basic
                     helix-loop-helix 1"
                     /db_xref="GeneID:402381"
                     /db_xref="HGNC:HGNC:27845"
                     /db_xref="MIM:610224"
     exon            1..79
                     /gene="SOHLH1"
                     /gene_synonym="bA100C15.3; bHLHe80; C9orf157; NOHLH; ODG5;
                     SPATA27; SPGF32; TEB2"
                     /inference="alignment:Splign:2.1.0"
     CDS             15..1178
                     /gene="SOHLH1"
                     /gene_synonym="bA100C15.3; bHLHe80; C9orf157; NOHLH; ODG5;
                     SPATA27; SPGF32; TEB2"
                     /note="isoform a is encoded by transcript variant 1;
                     spermatogenesis- and oogenesis-specific basic
                     helix-loop-helix-containing protein 1; newborn ovary helix
                     loop helix; spermatogenesis associated 27"
                     /codon_start=1
                     /product="spermatogenesis- and oogenesis-specific basic
                     helix-loop-helix-containing protein 1 isoform a"
                     /protein_id="NP_001095147.2"
                     /db_xref="CCDS:CCDS48054.1"
                     /db_xref="GeneID:402381"
                     /db_xref="HGNC:HGNC:27845"
                     /db_xref="MIM:610224"
                     /translation="MASRCSEPYPEVSRIPTVRGCNGSLSGALSCCEDSARGSGPPKA
                     PTVAEGPSSCLRRNVISERERRKRMSLSCERLRALLPQFDGRREDMASVLEMSVQFLR
                     LASALGPSQEQHAILASSKEMWHSLQEDVLQLTLSSQIQAGVPDPGTGASSGTRTPDV
                     KAFLESPWSLDPASASPEPVPHILASSRQWDPASCTSLGTDKCEALLGLCQVRGGLPP
                     FSEPSSLVPWPPGRSLPKAVRPPLSWPPFSQQQTLPVMSGEALGWLGQAGPLAMGAAP
                     LGEPAKEDPMLAQEAGSALGSDVDDGTSFLLTAGPSSWPGSLEGRGGSGPAWAPAESS
                     PLDVGEPGFLGDPELGSQELQDSPLEPWGLDVDCAGLALKDEVESIFPDFFAC"
     exon            80..211
                     /gene="SOHLH1"
                     /gene_synonym="bA100C15.3; bHLHe80; C9orf157; NOHLH; ODG5;
                     SPATA27; SPGF32; TEB2"
                     /inference="alignment:Splign:2.1.0"
     exon            212..359
                     /gene="SOHLH1"
                     /gene_synonym="bA100C15.3; bHLHe80; C9orf157; NOHLH; ODG5;
                     SPATA27; SPGF32; TEB2"
                     /inference="alignment:Splign:2.1.0"
     exon            360..481
                     /gene="SOHLH1"
                     /gene_synonym="bA100C15.3; bHLHe80; C9orf157; NOHLH; ODG5;
                     SPATA27; SPGF32; TEB2"
                     /inference="alignment:Splign:2.1.0"
     exon            482..675
                     /gene="SOHLH1"
                     /gene_synonym="bA100C15.3; bHLHe80; C9orf157; NOHLH; ODG5;
                     SPATA27; SPGF32; TEB2"
                     /inference="alignment:Splign:2.1.0"
     exon            676..889
                     /gene="SOHLH1"
                     /gene_synonym="bA100C15.3; bHLHe80; C9orf157; NOHLH; ODG5;
                     SPATA27; SPGF32; TEB2"
                     /inference="alignment:Splign:2.1.0"
     exon            890..960
                     /gene="SOHLH1"
                     /gene_synonym="bA100C15.3; bHLHe80; C9orf157; NOHLH; ODG5;
                     SPATA27; SPGF32; TEB2"
                     /inference="alignment:Splign:2.1.0"
     exon            961..1368
                     /gene="SOHLH1"
                     /gene_synonym="bA100C15.3; bHLHe80; C9orf157; NOHLH; ODG5;
                     SPATA27; SPGF32; TEB2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1331..1336
                     /regulatory_class="polyA_signal_sequence"
                     /gene="SOHLH1"
                     /gene_synonym="bA100C15.3; bHLHe80; C9orf157; NOHLH; ODG5;
                     SPATA27; SPGF32; TEB2"
                     /note="hexamer: ATTAAA"
     polyA_site      1368
                     /gene="SOHLH1"
                     /gene_synonym="bA100C15.3; bHLHe80; C9orf157; NOHLH; ODG5;
                     SPATA27; SPGF32; TEB2"
                     /note="major polyA site"
ORIGIN      
        1 gcagctgcga gttcatggcg tcccggtgct ccgagcccta cccggaggtc tccagaatcc
       61 ctaccgtcag gggatgcaac ggctccctgt ctggtgccct ctcctgctgc gaggactcgg
      121 cccggggctc gggcccgccc aaggccccta cggtggccga gggtcccagc tcctgccttc
      181 ggcggaacgt gatcagcgag agggagcgca ggaagcggat gtcgttgagc tgtgagcgtc
      241 tgcgggccct gctgccccag ttcgatggcc ggcgggagga catggcctcg gtcctggaga
      301 tgtctgtgca gttcctgcgg cttgccagcg ccctggggcc cagtcaggag cagcacgcta
      361 ttcttgcttc ctccaaggaa atgtggcact cgttgcagga ggatgtttta cagttgacgt
      421 tgtcgagtca gattcaagca ggtgtgccag accctgggac gggagcgtcc agcgggactc
      481 gaaccccaga tgtgaaggcg tttctggaaa gtccttggtc cctggatcca gcgtcggcca
      541 gcccagagcc cgtgccgcac atccttgcgt cctccaggca gtgggacccc gcgagctgca
      601 cgtccctggg cacggacaag tgtgaggcac tgttggggct gtgccaggtg cggggtgggc
      661 tgcccccttt ctcagaacct tccagcctgg tgccgtggcc cccaggccgg agtcttccta
      721 aggctgtgag gccacccctg tcctggcctc cgttctcgca gcagcagacc ttgcccgtga
      781 tgagcgggga ggcccttggc tggctgggcc aggctgggcc cctggccatg ggggctgcac
      841 ctctggggga gccagccaag gaggacccca tgctggcgca ggaggccggg tctgcgttgg
      901 ggtctgatgt ggacgatggg acgtccttcc tgctgactgc tggtcccagc tcgtggccgg
      961 ggtctctgga gggtcgagga ggcagtggcc ctgcatgggc cccagctgag agcagtccac
     1021 tggatgttgg agagccaggc ttcctagggg accctgagct tggctcccag gagctccagg
     1081 acagccctct ggagccgtgg ggcctggatg tggactgtgc aggcctggcc ctgaaggacg
     1141 aggtggagag catcttccct gacttctttg cctgctagca gccaggctgt ggagaggagg
     1201 cgggcggggc cggtggatct ggagccgtgt gtgtccctgt cgcgtgcttg ggcattttat
     1261 tttgggtttg ggttgcagct gcaccctaat ttgagcgagg cttacaggct gtgagaagag
     1321 gatagtgaat attaaagagg gaaagcagtt ttcctggagg aagcaaaa
//
