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FLASH GENE

Symbol

SOHLH1

contributors: mct - updated : 24-03-2021

HGNC name	spermatogenesis and oogenesis specific basic helix-loop-helix
HGNC id	27845

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001101677 8 - 1425 - 387 - 2010 20506135 NM_001012415 7 - 1997 - 328 - 2010 20506135

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Reproductive female system ovary ovarian follicle   predominantly Homo sapiens   male system testis     highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive Leydig cell Homo sapiens Reproductive oocyte Homo sapiens Reproductive Sertoli cell Homo sapiens Reproductive spermatogonia Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus,chromatin/chromosome
text	(NOBOX) and LIM homeobox protein 8 (LHX8), two important regulators of postnatal oogenesis, were coexpressed with SOHLH1

basic FUNCTION	SOHLH1 and LHX8 are two germ cell-specific, critical regulators of oogenesis
	SOHLH2 might coordinate with SOHLH1 to control spermatogonial and oocyte genes, including SOHLH1, to promote the differentiation of KIT(+) germ cells
	first testis-specific basic helix-loop-helix transcription factor essential for spermatogonial differentiation (
	SOHLH1 and SOHLH2, encode basic helix-loop-helix (bHLH) transcriptional regulators that are essential in spermatogonial differentiation
	SOHLH1 and SOHLH2 suppress genes involved in spermatogonial stem cells (SSCs) maintenance, and induce genes important for spermatogonial differentiation
	FIGLA, LHX8, NOBOX, SOHLH1, and SOHLH2 transcriptional regulators are critical for formation and maintenance of follicles
	SOHLH1 and SOHLH2 are essential regulators of oocyte differentiation but do not affect meiosis I
	plays a key role in the transcriptional regulation of the expression of differentiating spermatogonial genes
	likely SOHLH1 transcriptionally regulates the expression of many target genes critical for the meiotic phase of spermatogenesis
	major role for FIGLA, LHX8 and SOHLH1 as multifunctional regulators of networks necessary for oocyte maintenance and differentiation during early folliculogenesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

SOHLH2 and SOHLH1 can form a heterodimer

INTERACTION

DNA

RNA

small molecule

protein	SOHLH1 and SOHLH2 directly down-regulate STRA8
	STRA8, indirectly, is able to exert a negative control on the SOHLH1-dependent stimulation of KIT expression in late differentiating spermatogonia and preleptotene spermatocytes

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ODG5 , SPGF32

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional       loss of function causes infertility by disrupting spermatogonial differentiation into spermatocytes

Susceptibility

to nonobstructive azoospermia (NOA)

Variant & Polymorphism other	a splice-acceptor site mutation that probably causes a nonfunctional SOHLH1 protein results in nonobstructive azoospermia by the lack of normal spermatogenesis (

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

Sohlh1 knockout (KO) male mice displayed meiotic defects at the zygotene stage during spermatogenesis