SOHLH1
entrez
402381
canonical
uniprot
Q5JUK2
canonical
ensembl
ENSG00000165643
resolver
ensp
ENSP00000298466
resolver
ensp
ENSP00000404438
resolver
genesymbol
SOHLH1
resolver
genesymbol_syn
C9orf157
resolver
genesymbol_syn
NOHLH
resolver
genesymbol_syn
TEB2
resolver
hgnc
HGNC:27845
resolver
uniprot
C9JG81
resolver
uniprot
Q5EE14
resolver
uniprot
Q5EGC2
resolver
uniprot
Q8NEE3
resolver
uniprot_entry
SOLH1_HUMAN
resolver
uniprot_sec
C9JG81
resolver
uniprot_sec
Q5EE14
resolver
uniprot_sec
Q5EGC2
resolver
uniprot_sec
Q8NEE3
resolver
amino_acid_sequence
MASRCSEPYPEVSRIPTVRGCNGSLSGALSCCEDSARGSGPPKAPTVAEGPSSCLRRNVISERERRKRMSLSCERLRALLPQFDGRREDMASVLEMSVQFLRLASALGPSQEQHAILASSKEMWHSLQEDVLQLTLSSQIQAGVPDPGTGASSGTRTPDVKAFLESPWSLDPASASPEPVPHILASSRQWDPASCTSLGTDKCEALLGLCQVRGGLPPFSEPSSLVPWPPGRSLPKAVRPPLSWPPFSQQQTLPVMSGEALGWLGQAGPLAMGAAPLGEPAKEDPMLAQEAGSALGSDVDDGTSFLLTAGPSSWPGEWGPGFRAGPPA
uniprot
proteins
disease_involvement
DISEASE: 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 variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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). {ECO:0000250|UniProtKB:Q6IUP1, ECO:0000250|UniProtKB:Q9D489, ECO:0000269|PubMed:20506135}.
uniprot
proteins
mass_dalton
34526
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15164053
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16564520
uniprot
proteins
pubmed
20506135
uniprot
proteins
pubmed
25774885
uniprot
proteins
pubmed
28718531
uniprot
proteins
sequence_length
328
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q6IUP1}. Nucleus {ECO:0000250|UniProtKB:Q6IUP1, ECO:0000255|PROSITE-ProRule:PRU00981}.
uniprot
proteins