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Aliases for SOHLH1 Gene

Aliases for SOHLH1 Gene

  • Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1 2 3 5
  • Spermatogenesis Associated 27 2 3
  • C9orf157 3 4
  • NOHLH 3 4
  • TEB2 3 4
  • Spermatogenesis- And Oogenesis-Specific Basic Helix-Loop-Helix-Containing Protein 1 3
  • Chromosome 9 Open Reading Frame 157 2
  • Newborn Ovary Helix Loop Helix 3
  • BA100C15.3 3
  • SPATA27 3
  • BHLHe80 3
  • ODG5 3

External Ids for SOHLH1 Gene

Previous HGNC Symbols for SOHLH1 Gene

  • C9orf157

Previous GeneCards Identifiers for SOHLH1 Gene

  • GC09M137726
  • GC09M138585
  • GC09M108046

Summaries for SOHLH1 Gene

Entrez Gene Summary for SOHLH1 Gene

  • 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]

GeneCards Summary for SOHLH1 Gene

SOHLH1 (Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1) is a Protein Coding gene. Diseases associated with SOHLH1 include Ovarian Dysgenesis 5 and Azoospermia. Gene Ontology (GO) annotations related to this gene include DNA binding transcription factor activity and protein dimerization activity.

UniProtKB/Swiss-Prot for SOHLH1 Gene

  • Transcription factor expressed in undifferentiated spermatogonia required for spermatogonial development.

Additional gene information for SOHLH1 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SOHLH1 Gene

Genomics for SOHLH1 Gene

GeneHancer (GH) Regulatory Elements for SOHLH1 Gene

Promoters and enhancers for SOHLH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I135702 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 -0.8 -785 0.2 SMARCE1 CTCF ZNF362 RB1 L3MBTL2 NRF1 TRIM22 REST RAD21 ZNF48 KCNT1 SOHLH1
GH09I135699 Promoter 0.7 EPDnew 550.8 +1.8 1817 0.1 ZNF148 NRF1 MNT SOHLH1 LOC105376317
GH09I136100 Enhancer 1 FANTOM5 ENCODE dbSUPER 1.8 -399.6 -399574 0.2 SOX13 KLF1 SP5 ZNF335 ZFHX2 EGR1 BCL6B GLIS1 KLF9 BCL6 SOHLH1 NACC2 LOC105376323
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around SOHLH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the SOHLH1 gene promoter:

Genomic Locations for SOHLH1 Gene

Genomic Locations for SOHLH1 Gene
chr9:135,693,407-135,701,316
(GRCh38/hg38)
Size:
7,910 bases
Orientation:
Minus strand
chr9:138,585,253-138,591,374
(GRCh37/hg19)

Genomic View for SOHLH1 Gene

Genes around SOHLH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SOHLH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SOHLH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOHLH1 Gene

Proteins for SOHLH1 Gene

  • Protein details for SOHLH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5JUK2-SOLH1_HUMAN
    Recommended name:
    Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1
    Protein Accession:
    Q5JUK2
    Secondary Accessions:
    • C9JG81
    • Q5EE14
    • Q5EGC2
    • Q8NEE3

    Protein attributes for SOHLH1 Gene

    Size:
    328 amino acids
    Molecular mass:
    34526 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAW78548.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for SOHLH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SOHLH1 Gene

Post-translational modifications for SOHLH1 Gene

No Post-translational modifications

Other Protein References for SOHLH1 Gene

No data available for DME Specific Peptides for SOHLH1 Gene

Domains & Families for SOHLH1 Gene

Gene Families for SOHLH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for SOHLH1 Gene

Suggested Antigen Peptide Sequences for SOHLH1 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SOHLH1: view

No data available for UniProtKB/Swiss-Prot for SOHLH1 Gene

Function for SOHLH1 Gene

Molecular function for SOHLH1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor expressed in undifferentiated spermatogonia required for spermatogonial development.

Gene Ontology (GO) - Molecular Function for SOHLH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001046 core promoter sequence-specific DNA binding IBA --
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA --
GO:0003677 DNA binding IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with SOHLH1: view
genes like me logo Genes that share phenotypes with SOHLH1: view

Human Phenotype Ontology for SOHLH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for SOHLH1 Gene

MGI Knock Outs for SOHLH1:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for SOHLH1 Gene

Localization for SOHLH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SOHLH1 Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SOHLH1 gene
Compartment Confidence
nucleus 5
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SOHLH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SOHLH1: view

Pathways & Interactions for SOHLH1 Gene

SuperPathways for SOHLH1 Gene

No Data Available

Interacting Proteins for SOHLH1 Gene

Gene Ontology (GO) - Biological Process for SOHLH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription by RNA polymerase II IBA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA --
genes like me logo Genes that share ontologies with SOHLH1: view

No data available for Pathways by source and SIGNOR curated interactions for SOHLH1 Gene

Drugs & Compounds for SOHLH1 Gene

No Compound Related Data Available

Transcripts for SOHLH1 Gene

mRNA/cDNA for SOHLH1 Gene

(5) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(2) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SOHLH1 Gene

Spermatogenesis and oogenesis specific basic helix-loop-helix 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for SOHLH1 Gene

No ASD Table

Relevant External Links for SOHLH1 Gene

GeneLoc Exon Structure for
SOHLH1
ECgene alternative splicing isoforms for
SOHLH1

Expression for SOHLH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for SOHLH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SOHLH1 Gene

This gene is overexpressed in Brain - Cortex (x14.2), Brain - Frontal Cortex (BA9) (x9.0), Brain - Anterior cingulate cortex (BA24) (x7.3), Testis (x6.1), and Brain - Hippocampus (x4.9).

NURSA nuclear receptor signaling pathways regulating expression of SOHLH1 Gene:

SOHLH1

SOURCE GeneReport for Unigene cluster for SOHLH1 Gene:

Hs.120464

Phenotype-based relationships between genes and organs from Gene ORGANizer for SOHLH1 Gene

Germ Layers:
  • mesoderm
Systems:
  • reproductive
Organs:
Pelvis:
  • ovary
  • testicle
genes like me logo Genes that share expression patterns with SOHLH1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for SOHLH1 Gene

Orthologs for SOHLH1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for SOHLH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SOHLH1 33 34
  • 98.97 (n)
dog
(Canis familiaris)
Mammalia SOHLH1 33 34
  • 72.03 (n)
cow
(Bos Taurus)
Mammalia SOHLH1 33 34
  • 71.09 (n)
mouse
(Mus musculus)
Mammalia Sohlh1 33 16 34
  • 62.86 (n)
rat
(Rattus norvegicus)
Mammalia Sohlh1 33
  • 61.68 (n)
oppossum
(Monodelphis domestica)
Mammalia SOHLH1 34
  • 26 (a)
OneToOne
Species where no ortholog for SOHLH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for SOHLH1 Gene

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

Paralogs for SOHLH1 Gene

No data available for Paralogs for SOHLH1 Gene

Variants for SOHLH1 Gene

Sequence variations from dbSNP and Humsavar for SOHLH1 Gene

SNP ID Clin Chr 09 pos Variation AA Info Type
rs139034501 benign, not specified, Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5 135,702,288(-) G/A/C/T upstream_transcript_variant
rs146152956 conflicting-interpretations-of-pathogenicity, benign, not specified, Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5 135,702,357(-) A/G upstream_transcript_variant
rs146292575 conflicting-interpretations-of-pathogenicity, benign, likely-benign, not specified, Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5, not provided 135,702,317(-) G/A/C upstream_transcript_variant
rs377687237 uncertain-significance, Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5 135,702,308(-) C/T upstream_transcript_variant
rs754823810 likely-benign, Early infantile epileptic encephalopathy 14, Epilepsy, nocturnal frontal lobe, 5 135,702,352(-) G/A/T upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for SOHLH1 Gene

Variant ID Type Subtype PubMed ID
dgv12990n54 CNV loss 21841781
dgv12991n54 CNV loss 21841781
dgv12992n54 CNV loss 21841781
dgv12993n54 CNV loss 21841781
dgv954n27 CNV loss 19166990
esv1601054 CNV insertion 17803354
nsv1129306 CNV insertion 24896259
nsv1139381 CNV deletion 24896259
nsv1142561 CNV tandem duplication 24896259
nsv1152964 CNV insertion 26484159
nsv415350 CNV insertion 16902084
nsv415465 CNV insertion 16902084
nsv469914 CNV loss 18288195
nsv469915 CNV gain 18288195
nsv517335 CNV loss 19592680
nsv615918 CNV loss 21841781
nsv818735 CNV gain 17921354
nsv818736 CNV gain 17921354
nsv825171 CNV gain 20364138
nsv831756 CNV loss 17160897
nsv951201 CNV deletion 24416366

Variation tolerance for SOHLH1 Gene

Residual Variation Intolerance Score: 94.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.28; 40.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SOHLH1 Gene

Human Gene Mutation Database (HGMD)
SOHLH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
SOHLH1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SOHLH1 Gene

Disorders for SOHLH1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for SOHLH1 Gene - From: HGMD, OMIM, GTR, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
ovarian dysgenesis 5
  • odg5
azoospermia
  • spermatogenic failure
premature ovarian failure 1
  • pof1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SOLH1_HUMAN
  • Note=Genetic variations in SOHLH1 may be associated with non-obstructive azoospermia. {ECO:0000269 PubMed:20506135}.

Additional Disease Information for SOHLH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with SOHLH1: view

No data available for Genatlas for SOHLH1 Gene

Publications for SOHLH1 Gene

  1. Mutations in SOHLH1 gene associate with nonobstructive azoospermia. (PMID: 20506135) Choi Y … Shim SH (Human mutation 2010) 3 4 44 58
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg RL … Mammalian Gene Collection Program Team (Proceedings of the National Academy of Sciences of the United States of America 2002) 2 3 58
  3. Association of genetic variants in SOHLH1 and SOHLH2 with non-obstructive azoospermia risk in the Chinese population. (PMID: 25463635) Song B … Cao YX (European journal of obstetrics, gynecology, and reproductive biology 2015) 3 58
  4. Transcription factor SOHLH1 potentially associated with primary ovarian insufficiency. (PMID: 25527234) Zhao S … Chen ZJ (Fertility and sterility 2015) 3 58
  5. Immunohistochemical Study of Expression of Sohlh1 and Sohlh2 in Normal Adult Human Tissues. (PMID: 26375665) Zhang X … Hao J (PloS one 2015) 3 58

Products for SOHLH1 Gene

Sources for SOHLH1 Gene

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