• Gene id: 402381

Gene Summary

• Gene Symbol: SOHLH1   Gene   UCSC   Ensembl
• Aliases: C9orf157, NOHLH, ODG5, SPATA27, TEB2, bA100C15.3, bHLHe80
• Gene name: spermatogenesis and oogenesis specific basic helix-loop-helix 1
• Alternate names: spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 1, newborn ovary helix loop helix, spermatogenesis associated 27,
• Gene location: 9q34.3 (68121390: 68052858)     Exons: 14     NC_000011.10
• Gene summary(Entrez): 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. Alternativ
• OMIM: 610224

SNPs

rs140132974

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.135697628C>T
NC_000009.11   g.138589474C>T
NG_033070.1   g.444C>T
NG_033784.1   g.6901G>A|SEQ=[C/T]|GENE=SOHLH1

Protein Summary

• Protein general information: Q5JUK2  
  • Name: Spermatogenesis and oogenesis specific basic helix loop helix containing protein 1
  • Length: 328  
  • Mass: 34,526
• Sequence:

  MASRCSEPYPEVSRIPTVRGCNGSLSGALSCCEDSARGSGPPKAPTVAEGPSSCLRRNVISERERRKRMSLSCER
  LRALLPQFDGRREDMASVLEMSVQFLRLASALGPSQEQHAILASSKEMWHSLQEDVLQLTLSSQIQAGVPDPGTG
  ASSGTRTPDVKAFLESPWSLDPASASPEPVPHILASSRQWDPASCTSLGTDKCEALLGLCQVRGGLPPFSEPSSL
  VPWPPGRSLPKAVRPPLSWPPFSQQQTLPVMSGEALGWLGQAGPLAMGAAPLGEPAKEDPMLAQEAGSALGSDVD
  DGTSFLLTAGPSSWPGEWGPGFRAGPPA

• Structural information:
  • Protein Domains: bHLH. (53-104)
  • Interpro: IPR011598  IPR036638  IPR032668  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000404438
• Other Databases: GeneCards:  SOHLH1  Malacards:  SOHLH1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001046	core promoter sequence-specific DNA binding	IBA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IBA	molecular function
GO:0001541	ovarian follicle development	IEA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006366	transcription from RNA polymerase II promoter	IBA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0048477	oogenesis	IEA	biological process
GO:0000977	RNA polymerase II regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001046	core promoter sequence-specific DNA binding	IBA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IEA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IBA	molecular function
GO:0001541	ovarian follicle development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003700	transcription factor activity, sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IBA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IEA	biological process
GO:0006366	transcription from RNA polymerase II promoter	IBA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0030154	cell differentiation	IBA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IEA	biological process
GO:0045944	positive regulation of transcription from RNA polymerase II promoter	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0048477	oogenesis	IEA	biological process
GO:0048477	oogenesis	IEA	biological process
GO:0001046	core promoter sequence-specific DNA binding	IBA	molecular function
GO:0001228	transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0006366	transcription from RNA polymerase II promoter	IBA	biological process
GO:0030154	cell differentiation	IBA	biological process

Diseases

Associated diseases	References
Premature ovarian insufficiency (POI)	INFBASE: 25527234
Non obstructive azoospermia	MIK: 20506135
Azoospermia	MIK: 20506135
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 16564520
Non-obstructive azoospermia	MIK: 28718531

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
20506135	Nonobstructive�azoospermia	one intronic variant (c.346-1G>A), and two nonsynonymous exonic variants (c.91T>C and c.529C>A) with known single nucleotide polymorphisms (SNPs)	Korean	96 Korean patients with NOA	Male infertility
16564520	Essentail for spermatogonial differentiation				Male infertility
22056784	Important for spermaogonial differentiation				Male infertility
28718531	Non-obstructive azoospermia	c.346-1G>A (rs140132974)	Japanes e	40 patients with idiopathic non-obstructive azoospermia	Male infertility	NGS
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq