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] See more...

Aliases for SOHLH1 Gene

Aliases for SOHLH1 Gene

  • Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1 2 3 5
  • NOHLH 2 3 4
  • TEB2 2 3 4
  • Spermatogenesis- And Oogenesis-Specific Basic Helix-Loop-Helix-Containing Protein 1 3 4
  • Spermatogenesis Associated 27 2 3
  • BA100C15.3 2 3
  • C9orf157 3 4
  • SPATA27 2 3
  • BHLHe80 2 3
  • Chromosome 9 Open Reading Frame 157 2
  • Newborn Ovary Helix Loop Helix 3
  • SPGF32 3
  • SOHLH1 5
  • 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 Spermatogenic Failure 32. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein dimerization activity. An important paralog of this gene is SOHLH2.

UniProtKB/Swiss-Prot Summary for SOHLH1 Gene

  • Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SOHLH1 Gene

Genomics for SOHLH1 Gene

GeneHancer (GH) Regulatory Elements Pubs

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
GH09J135703 Enhancer 0.7 Ensembl ENCODE 600.7 -0.2 -195 2.2 ZNF692 UBTF NFIC ELK1 STAT1 ZFP69B NFIB ZNF143 GATA2 SOHLH1 KCNT1 piR-30166 CAMSAP1
GH09J135699 Promoter 0.6 EPDnew 600.7 +5.0 4999 0.1 MNT NRF1 ZNF148 SOHLH1 KCNT1 LOC105376317 LCN9
GH09J135603 Enhancer 0.8 Ensembl ENCODE 5 +100.5 100465 0.6 CTCF PHF21A REST RAD21 TRIM22 EZH2 ZNF444 SMC3 MYC TARDBP LOC102723971 SOHLH1 HSALNG0075176 PAEP lnc-GLT6D1-2
GH09J135718 Enhancer 0.6 Ensembl 6.3 -14.3 -14303 1.2 ZIC2 ZFHX2 ELF1 GABPB1 CTCF FOSL2 GLIS1 FOS MTA1 MYC SOHLH1 piR-30166 RF00017-8053 KCNT1 CAMSAP1
GH09J135725 Enhancer 0.5 Ensembl 4.9 -20.3 -20303 2 JUN GLIS1 ZNF24 FOS GLIS2 KCNT1 SOHLH1 RF00017-8053 piR-30166 CAMSAP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SOHLH1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SOHLH1

Top Transcription factor binding sites by QIAGEN in the SOHLH1 gene promoter:
  • ARP-1
  • FOXD3
  • LUN-1
  • MyoD
  • NF-1
  • NF-1/L
  • NF-kappaB
  • NF-kappaB1
  • p53
  • S8

Genomic Locations for SOHLH1 Gene

Genomic Locations for SOHLH1 Gene
chr9:135,691,862-135,704,498
(GRCh38/hg38)
Size:
12,637 bases
Orientation:
Minus strand
chr9:138,585,253-138,591,374
(GRCh37/hg19)
Size:
6,122 bases
Orientation:
Minus strand

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:
    • Forms both hetero- and homodimers with SOHLH2.
    SequenceCaution:
    • Sequence=AAW78548.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for SOHLH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SOHLH1 Gene

Post-translational modifications for SOHLH1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

InterPro:
Blocks:
  • Basic helix-loop-helix dimerization domain bHLH
ProtoNet:

Suggested Antigen Peptide Sequences for SOHLH1 Gene

GenScript: Design optimal peptide antigens:
  • Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1 (SOLH1_HUMAN)
genes like me logo Genes that share domains with SOHLH1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for SOHLH1 Gene

Function for SOHLH1 Gene

Molecular function for SOHLH1 Gene

UniProtKB/Swiss-Prot Function:
Transcription regulator of both male and female germline differentiation. Suppresses genes involved in spermatogonial stem cells maintenance, and induces genes important for spermatogonial differentiation. Coordinates oocyte differentiation without affecting meiosis I (By similarity).

Phenotypes From GWAS Catalog for SOHLH1 Gene

Gene Ontology (GO) - Molecular Function for SOHLH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISM 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IBA 21873635
GO:0003677 DNA binding IEA --
GO:0042803 protein homodimerization activity ISS --
GO:0046982 protein heterodimerization activity ISS --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOHLH1

No data available for Enzyme Numbers (IUBMB) , 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 4
extracellular 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
cytosol 1

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:0000790 nuclear chromatin ISA --
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with SOHLH1: view

Pathways & Interactions for SOHLH1 Gene

PathCards logo

SuperPathways for SOHLH1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SOHLH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
GO:0007275 multicellular organism development IEA --
GO:0007283 spermatogenesis IEA,ISS --
GO:0009994 oocyte differentiation ISS --
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

2 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SOHLH1

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

No ASD Table

Relevant External Links for SOHLH1 Gene

GeneLoc Exon Structure for
SOHLH1

Expression for SOHLH1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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
Regions:
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 30 31
  • 98.97 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SOHLH1 30 31
  • 72.03 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SOHLH1 30 31
  • 71.09 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Sohlh1 30 17 31
  • 62.86 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Sohlh1 30
  • 61.68 (n)
Oppossum
(Monodelphis domestica)
Mammalia SOHLH1 31
  • 26 (a)
OneToOne
Species where no ortholog for SOHLH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for SOHLH1: view image

Paralogs for SOHLH1 Gene

Paralogs for SOHLH1 Gene

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

Variants for SOHLH1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SOHLH1 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
671737 Likely Benign: not provided 135,701,972(-) A/G GENIC_UPSTREAM_TRANSCRIPT_VARIANT
716395 Benign: not provided 135,696,730(-) C/T SYNONYMOUS_VARIANT
716396 Benign: not provided 135,696,752(-) G/A MISSENSE_VARIANT
736461 Benign: not provided 135,696,711(-) T/C MISSENSE_VARIANT
747655 Likely Benign: not provided 135,695,154(-) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for SOHLH1 Gene

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

(14) MalaCards diseases for SOHLH1 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SOLH1_HUMAN
  • Spermatogenic failure 32 (SPGF32) [MIM:618115]: An autosomal dominant infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia. {ECO:0000269 PubMed:20506135, ECO:0000269 PubMed:28718531}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Ovarian dysgenesis 5 (ODG5) [MIM:617690]: A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads. ODG5 is an autosomal recessive condition. {ECO:0000269 PubMed:25774885}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for SOHLH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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) 2 3 4 41
  2. SOHLH1 and SOHLH2 coordinate spermatogonial differentiation. (PMID: 22056784) Suzuki H … Rajkovic A (Developmental biology 2012) 2 3
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Sohlh1 suppresses glioblastoma cell proliferation, migration, and invasion by inhibition of Wnt/β-catenin signaling. (PMID: 29240260) Liu X … Hao J (Molecular carcinogenesis 2018) 3
  5. Next-generation sequencing for patients with non-obstructive azoospermia: implications for significant roles of monogenic/oligogenic mutations. (PMID: 28718531) Nakamura S … Fukami M (Andrology 2017) 4

Products for SOHLH1 Gene

Sources for SOHLH1 Gene