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Aliases for SOHLH1 Gene

Aliases for SOHLH1 Gene

  • Spermatogenesis And Oogenesis Specific Basic Helix-Loop-Helix 1 2 3
  • 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

External Ids for SOHLH1 Gene

Previous Symbols for SOHLH1 Gene

  • C9orf157

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 azoospermia. GO annotations related to this gene include sequence-specific 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.

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

Genomics for SOHLH1 Gene

Genomic Location for SOHLH1 Gene

Start:
135,693,407 bp from pter
End:
135,700,401 bp from pter
Size:
6,995 bases
Orientation:
Minus strand

Genomic View for SOHLH1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SOHLH1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SOHLH1 Gene

Regulatory Elements 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

Proteomics data for SOHLH1 Gene at MOPED

Post-translational modifications for SOHLH1 Gene

No Post-translational modifications

Other Protein References for SOHLH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SOHLH1 Gene

Domains for SOHLH1 Gene

Gene Families for SOHLH1 Gene

HGNC:
  • bHLH :Basic helix-loop-helix proteins

Protein Domains for SOHLH1 Gene

UniProtKB/Swiss-Prot:

SOLH1_HUMAN
Domain:
  • Contains 1 bHLH (basic helix-loop-helix) domain.:
    • Q5JUK2
genes like me logo Genes that share domains with SOHLH1: view

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:0003677 DNA binding IEA --
GO:0003700 sequence-specific DNA binding transcription factor activity IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with SOHLH1: view

Phenotypes for SOHLH1 Gene

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

Animal Models for SOHLH1 Gene

MGI Knock Outs for SOHLH1:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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
Jensen Localization Image for SOHLH1 Gene COMPARTMENTS Subcellular localization image for SOHLH1 gene
Compartment Confidence
nucleus 3
cytosol 2

Gene Ontology (GO) - Cellular Components for SOHLH1 Gene

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

Pathways 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:0001541 ovarian follicle development IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0007283 spermatogenesis IEA --
GO:0010468 regulation of gene expression --
GO:0030154 cell differentiation --
genes like me logo Genes that share ontologies with SOHLH1: view

No data available for Pathways by source for SOHLH1 Gene

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:

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 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 (14.2), Brain - Frontal Cortex (BA9) (9.0), Brain - Anterior cingulate cortex (BA24) (7.3), Testis (6.1), and Brain - Hippocampus (4.9).

SOURCE GeneReport for Unigene cluster for SOHLH1 Gene Hs.120464

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

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 36
  • 98.97 (n)
  • 98.45 (a)
SOHLH1 37
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SOHLH1 36
  • 71.09 (n)
  • 59.55 (a)
SOHLH1 37
  • 50 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SOHLH1 36
  • 72.03 (n)
  • 56.66 (a)
SOHLH1 37
  • 44 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sohlh1 36
  • 62.86 (n)
  • 51.65 (a)
Sohlh1 16
Sohlh1 37
  • 45 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SOHLH1 37
  • 26 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sohlh1 36
  • 61.68 (n)
  • 50.73 (a)
Species with no ortholog for SOHLH1:
  • 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 Sequence Context AA Info Type MAF
rs471525 - 135,699,082(+) AGCCC(C/T)GGGCC missense, reference, utr-variant-5-prime
rs474061 -- 135,698,834(+) CAACA(C/G)GGCTT intron-variant
rs484524 -- 135,694,463(+) CTGGA(A/G)GCGAC intron-variant
rs503511 -- 135,697,903(-) ACCTG(C/T)GTGGG intron-variant
rs503539 -- 135,697,911(-) GGCTG(A/C)GGACC intron-variant

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

Variant ID Type Subtype PubMed ID
nsv894256 CNV Loss 21882294
nsv831756 CNV Loss 17160897
nsv818735 CNV Gain 17921354
nsv517335 CNV Loss 19592680
dgv8368n71 CNV Loss 21882294
nsv818736 CNV Gain 17921354
nsv469914 CNV Loss 18288195
dgv8369n71 CNV Loss 21882294
nsv825171 CNV Gain 20364138
nsv415465 CNV Insertion 16902084
esv1601054 CNV Insertion 17803354
nsv415350 CNV Insertion 16902084
dgv954n27 CNV Loss 19166990
dgv8370n71 CNV Loss 21882294
nsv469915 CNV Gain 18288195
dgv8371n71 CNV Loss 21882294

Relevant External Links for SOHLH1 Gene

HapMap Linkage Disequilibrium report
SOHLH1
Human Gene Mutation Database (HGMD)
SOHLH1

Disorders for SOHLH1 Gene

UniProtKB/Swiss-Prot

SOLH1_HUMAN
  • Note=Genetic variations in SOHLH1 may be associated with non-obstructive azoospermia.

(1) MalaCards Diseases for SOHLH1 Gene

Search for SOHLH1 Gene in MalaCards »

(2) University of Copenhagen DISEASES for SOHLH1 Gene

Relevant External Links for SOHLH1

Genetic Association Database (GAD)
SOHLH1
Human Genome Epidemiology (HuGE) Navigator
SOHLH1
genes like me logo Genes that share disorders with SOHLH1: view

Publications for SOHLH1 Gene

  1. Mutations in SOHLH1 gene associate with nonobstructive azoospermia. (PMID: 20506135) Choi Y. … Shim S.H. (Hum. Mutat. 2010) 3 4 49
  2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 2 3
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. Oogenesis requires germ cell-specific transcriptional regulators Sohlh1 and Lhx8. (PMID: 16690745) Pangas S.A. … Rajkovic A. (Proc. Natl. Acad. Sci. U.S.A. 2006) 3
  5. Candidate genes for premature ovarian failure. (PMID: 17305537) Suzumori N. … Rajkovic A. (Curr. Med. Chem. 2007) 3

Products for SOHLH1 Gene

Sources for SOHLH1 Gene

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