SOHLH1
Identifiers
Aliases	SOHLH1, C9orf157, NOHLH, SPATA27, TEB2, bA100C15.3, bHLHe80, spermatogenesis and oogenesis specific basic helix-loop-helix 1, ODG5, SPGF32
External IDs	OMIM: 610224; MGI: 2684956; GeneCards: SOHLH1
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q34.3 Start 135,693,407 bp[1] End 135,704,498 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2|2 A3 Start 25,733,007 bp[2] End 25,737,260 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right frontal lobe gonad anterior cingulate cortex Brodmann area 9 prefrontal cortex right testis left testis testicle primary visual cortex amygdala Top expressed in embryo Gonadal ridge cumulus cell lens ovary testicle spermatid fibula tibia gastrula More reference expression data BioGPS n/a
Gene ontology Molecular function DNA binding core promoter sequence-specific DNA binding protein dimerization activity DNA-binding transcription activator activity, RNA polymerase II-specific protein homodimerization activity protein heterodimerization activity DNA-binding transcription factor activity, RNA polymerase II-specific Cellular component cytoplasm nucleus Biological process multicellular organism development regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II transcription, DNA-templated oogenesis transcription by RNA polymerase II regulation of transcription by RNA polymerase II spermatogenesis oocyte differentiation cell differentiation Sources:Amigo / QuickGO
Orthologs Databases NCBI: entry; OMA: entry Species Human Mouse Entrez 402381 227631 Ensembl ENSG00000165643 ENSMUSG00000059625 UniProt Q5JUK2 Q6IUP1 RefSeq (mRNA) NM_001012415 NM_001101677 NM_001001714 RefSeq (protein) NP_001012415 NP_001095147 NP_001001714 Location (UCSC) Chr 9: 135.69 – 135.7 Mb Chr 2: 25.73 – 25.74 Mb PubMed search [3] [4]
Wikidata
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Spermatogenesis and Oogenesis Specific Basic Helix-Loop-Helix 1 is a protein which in humans is encoded by the gene SOHLH1.^[5] It functions as a transcription factor,^[5][6] which means it binds with DNA and helps regulate which genes get translated into RNA and eventually encoded into proteins.^[7] SOHLH1, in particular, is involved in the differentiation and production of both sperm cells (spermatogenesis) and egg cells (oogenesis).^[5][6] Beyond these two kinds of germ cells, it is also expressed in ovarian follicles, which help support and mature oocytes (immature egg cells).^[6] Mutations which interfere with the functioning of the SOHLH1 gene in humans are associated with infertility and other reproductive system conditions.^[8][9]

Function

As its name suggests, SOHLH1 is a transcription factor of the basic helix–loop–helix family.^[5] It is involved in the development of both ovaries and testes.^[6] In the reproductive system, SOHLH1 (together with its homolog SOHLH2) are predominantly expressed in germ cells and early ovarian follicles (primordial and primary).^[6] Follicles fail to develop properly in the ovaries of knock-out mice, and are completely missing by 3 weeks after birth.^[6] These defects are thought to be related to SOHLH1’s regulation of genes specific to germ cells, notably including the transcription factor LHX8 which it directly regulates.^[6] Other directly regulated genes include ZP1 and ZP3.^[6]

Clinical significance

Pathogenic variants in human are associated with both male and female reproductive system dysfunction. In the female reproductive system, homozygous variants have been associated with a failure of the ovaries to develop normally. Instead, the gonads develop into non-functional fibrous tissue (a condition called gonadal dysgenesis).^[8][10] The specific subtype associated with SOHLH1 is called Ovarian Dysgenesis 5.^[8] In the male reproductive system, heterozygous variants are associated with infertility due to a failure in sperm production, which is called nonobstructive azoospermia.^[9][11] This SOHLH1-associated subtype is called Spermatogenic Failure 32.^[9]

References