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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SOHLH1 Gene

protein-coding   GIFtS: 47
GCID: GC09M138585

spermatogenesis and oogenesis specific basic helix-loop-helix...

(Previous name: chromosome 9 open reading frame 157 )
(Previous symbol: C9orf157)
 Explore 1 disease affiliated with
SOHLH1 via our new
 Human Malady Compendium 
Biological research products
for SOHLH1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 11 2     BHLHe801
C9orf1571 2 3     Chromosome 9 Open Reading Frame 1571
NOHLH1 2 3     Newborn Ovary Helix Loop Helix2
TEB21 2 3     Spermatogenesis Associated 272
SPATA271 2     Spermatogenesis- And Oogenesis-Specific Basic Helix-Loop-Helix-Containing
Protein 12
BA100C15.31     

External Ids:    HGNC: 278451   Entrez Gene: 4023812   Ensembl: ENSG000001656437   OMIM: 6102245   UniProtKB: Q5JUK23   

Export aliases for SOHLH1 gene to outside databases

Previous GC identifers: GC09M137726 GC09M108046


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: SOLH1_HUMAN, Q5JUK2
Function: Transcription factor expressed in undifferentiated spermatogonia required for spermatogonial development (By
similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  NT_019501.13  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SOHLH1 gene promoter:
         NF-1   NF-1/L   p53   FOXD3   MyoD   LUN-1   NF-kappaB   S8   ARP-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSOHLH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for SOHLH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SOHLH1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.3   Ensembl cytogenetic band:  9q34.3   HGNC cytogenetic band: 9q34.3

SOHLH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SOHLH1 gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M138585:  view genomic region     (about GC identifiers)

Start:
138,585,253 bp from pter      End:
138,591,374 bp from pter
Size:
6,122 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SOLH1_HUMAN, Q5JUK2 (See protein sequence)
Recommended Name: Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1  
Size: 328 amino acids; 34526 Da
Subcellular location: Cytoplasm (By similarity). Nucleus (By similarity)
Sequence caution: Sequence=AAW78548.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: C9JG81 Q5EE14 Q5EGC2 Q8NEE3
Alternative splicing: 2 isoforms:  Q5JUK2-1   Q5JUK2-2   

Explore the universe of human proteins at neXtProt for SOHLH1: NX_Q5JUK2

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q5JUK2

  • SOHLH1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001012415.2  NP_001095147.1  

    ENSEMBL proteins: 
     ENSP00000298466   ENSP00000404438  

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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--


    SOHLH1 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    SOHLH1 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR011598 HLH_dom

    Graphical View of Domain Structure for InterPro Entry Q5JUK2

    ProtoNet protein and cluster: Q5JUK2

    1 Blocks protein family: IPB001092 Basic helix-loop-helix dimerization domain bHLH

    UniProtKB/Swiss-Prot: SOLH1_HUMAN, Q5JUK2
    Similarity: Contains 1 bHLH (basic helix-loop-helix) domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: SOLH1_HUMAN, Q5JUK2
    Function: Transcription factor expressed in undifferentiated spermatogonia required for spermatogonial development (By
    similarity)

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    Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0046983protein dimerization activity IEA--


    SOHLH1 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for SOHLH1:
     Increased G1 DNA content 

    Animal Models:
         Mouse knock-out Sohlh1tm1Rajk for SOHLH1
         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Sohlh1):
     endocrine/exocrine gland  reproductive system 

    SOHLH1 for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SOHLH1

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001541ovarian follicle development IEA--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0007275multicellular organismal development ----
    GO:0007283spermatogenesis IEA--


    SOHLH1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SOHLH1
    Search CenterWatch for drugs/clinical trials and news about SOHLH1 / SOLH1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SOHLH1 gene (2 alternative transcripts): 
    NM_001012415.2  NM_001101677.1  

    Unigene Cluster for SOHLH1:

    Spermatogenesis and oogenesis specific basic helix-loop-helix 1
    Hs.120464  [show with all ESTs]
    Unigene Representative Sequence: BC031861
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298466(uc010nbe.3 uc004cgl.3) ENST00000425225

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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SOHLH1:
    hsa-miR-642a hsa-miR-516a-3p hsa-miR-516b*
    SwitchGear 3'UTR luciferase reporter plasmidSOHLH1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AY884306.1 AY902244.1 BC031861.1 BC096724.1 BC101937.1 

    2 DOTS entries:

    DT.99928874  DT.121208483 

    2 AceView cDNA sequences:

    BG722738 BC031861 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SOHLH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCTGCCCTGC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    SOHLH1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    5 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSpermatogonium Type AGerm Cells, Male Gametocytes
    OvaryPrimary FolliclePrimary OocyteFemale Gametocytes, Germ Cells
    OvaryPrimordial FolliclePrimary OocyteFemale Gametocytes, Germ Cells
    TestisSeminiferous TubulesSpermatogonium Type BGerm Cells, Male Gametocytes
    TestisSeminiferous TubulesSertoli cellsTestis
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See SOHLH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SOHLH1

    SOURCE GeneReport for Unigene cluster: Hs.120464
        SABiosciences Custom PCR Arrays for SOHLH1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SOHLH1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of human and mouse.

    Orthologs for SOHLH1 gene from 1/5 species (see all 5)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sohlh11 , 5 spermatogenesis and oogenesis specific basic helix-loop-helix more1, 5 61.18(n)1
    49.71(a)1
      2 (18.21 cM)5
    2276311  NM_001001714.11  NP_001001714.11 
     258429955 


    ENSEMBL Gene Tree for SOHLH1 (if available)
    TreeFam Gene Tree for SOHLH1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/228 NCBI SNPs in SOHLH1 are shown (see all 228    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1846002841,2
    --138584763(+) TTCCTC/TTAAGT 2 -- int10--------
    rs1383660351,2
    --138584783(+) ACCCCA/GACCCC 2 -- int10--------
    rs5384021,2
    C,F,A,H,--138584786(+) CCGACT/CCCGAA 2 -- int110Minor allele frequency- C:0.43NA WA CSA EA 374
    rs1903816771,2
    --138584796(+) AGTAAA/CCCAGC 2 -- int10--------
    rs5400181,2
    C,F,A,H,--138584921(+) GTGGAA/GGTGGA 2 -- int122Minor allele frequency- G:0.48NS EA NA WA CSA 2352
    rs1439017831,2
    --138585017(+) GCAACA/GAGCAG 2 -- int10--------
    rs1472819591,2
    --138585086(+) AGGGAG/TCAGGT 2 -- int10--------
    rs1407051151,2
    --138585134(+) TATTCC/TGGGAT 2 -- int10--------
    rs1825723231,2
    --138585214(+) GATCCA/GCCTGA 2 -- int10--------
    rs126858971,2
    H--138585272(+) GGAAAA/GCTGCT 2 -- ut31 ese30--------

    HapMap Linkage Disequilibrium report for SOHLH1 (138585253 - 138591374 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 9 variations for SOHLH1
         9 CNVs: 53672 52745 9629 30345 52744 9628 4661 30343 52746
    Human Gene Mutation Database (HGMD): SOHLH1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    SOHLH1 for disorders           About GeneDecksing

    OMIM gene information: 610224    OMIM disorders: --

    UniProtKB/Swiss-Prot: SOLH1_HUMAN, Q5JUK2
  • Note=Genetic variations in SOHLH1 may be associated with non-obstructive azoospermia

  • 1 disease for SOHLH1:    About MalaCards
    azoospermia

    2 diseases from the University of Copenhagen DISEASES database for SOHLH1:
    Premature ovarian failure     Infertility
    Human Genome Epidemiology (HuGE) Navigator: SOHLH1 (1 document)

    Export disorders for SOHLH1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SOHLH1 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SOHLH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in SOHLH1 gene associate with nonobstructiv e azoospermia. (PubMed id 20506135)1, 2 Choi Y....Shim S.H. (2010)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)
    3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    4. Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8. (PubMed id 16690745)1 Pangas S.A....Rajkovic A. (2006)
    5. Sohlh1 is essential for spermatogonial differentiation. (PubMed id 16564520)2 Ballow D.... Rajkovic A. (2006)
    6. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)2 Humphray S.J.... Dunham I. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 402381 HGNC: 27845 AceView: C9orf157 Ensembl:ENSG00000165643 euGenes: HUgn402381
    ECgene: SOHLH1 H-InvDB: SOHLH1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SOHLH1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SOHLH1 gene:
    Search GeneIP for patents involving SOHLH1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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