SIX6OS1
entrez
317761
canonical
uniprot
Q8N1H7
canonical
ensembl
ENSG00000179008
resolver
ensp
ENSP00000324920
resolver
ensp
ENSP00000587691
resolver
ensp
ENSP00000587692
resolver
ensp
ENSP00000587693
resolver
ensp
ENSP00000587694
resolver
enst
ENST00000321731
resolver
enst
ENST00000917634
resolver
enst
ENST00000917635
resolver
genesymbol
SIX6OS1
resolver
genesymbol_syn
C14orf39
resolver
hgnc
HGNC:19849
resolver
uniprot
Q08AQ4
resolver
uniprot_entry
S6OS1_HUMAN
resolver
uniprot_sec
Q08AQ4
resolver
amino_acid_sequence
MNDSLFVSLDRLLLEFVFQYEQDISTKEEMIQRINKCCEDIKENKVTICRIHETINATDEEIDHYCKHSEEIKDNCRNWKPTCDVFRKHEDYMQDQFTVYQGTVEKDKEMYHDYICQYKEVLKQYQLKYSETPFSREYYEKKREHEEIQSRVLACTEQLKMNETIFMKFRVPAPFPSLTKWTLNIVNLRCETQDILKHASNLTKSSSELKKEVDEMEIEINYLNQQISRHNETKALSETLEEKNKNTENRKELKERIFGKDEHVLTLNKTQSSQLFLPYESQKLVRPIKMHSSEPRVADIKEESSAKQSKLANIDFRQKENDTQIFNDSAVDNHSKCSHITTITSSQKFMQVRLLTPQKQSNSNQWSEKGDKDAEYGDKGTVRQVRESKCTSQAIYTEHFGKSVENDSDEVEERAENFPRTSEIPIFLGTPKAVKAPESLEKIKFPKTPPFEINRNRNAVPEVQTEKESPGLSFLMSYTSRSPGLNLFDSSVFDTEISSDQFNEHYSARNLNPLSSEQEIGNLLEKPEGEDGFTFSFPSDTSTHTFGAGKDDFSFPFSFGQGQNSIPSSSLKGFSSSSQNTTQFTFF
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 52 (SPGF52) [MIM:619202]: An autosomal recessive infertility disorder characterized by azoospermia due to meiotic arrest at the spermatocyte stage. {ECO:0000269|PubMed:33508233}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Premature ovarian failure 18 (POF18) [MIM:619203]: A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF18 is an autosomal recessive form characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life. The uterus is small, ovaries may be small or rudimentary, and do not show follicular activity. {ECO:0000269|PubMed:33508233}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Meiotic protein that localizes to the central element of the synaptonemal complex and is required for chromosome synapsis during meiotic recombination. Required for the appropriate processing of intermediate recombination nodules before crossover formation. {ECO:0000250|UniProtKB:Q9CTN5}.
uniprot
proteins
mass_dalton
68166
uniprot
proteins
pubmed
12508121
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15703187
uniprot
proteins
pubmed
33508233
uniprot
proteins
sequence_length
587
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:Q9CTN5}. Note=Component of the central element of the synaptonemal complex. In spermatocytes, detected from zygonema to pachynema and localizes along synapsed lateral elements. Loading to the central element of the synaptonemal complex is dependent on the assembly of the tripartite synaptonemal complex structure that occurs upon synapsis between homologous chromosomes. {ECO:0000250|UniProtKB:Q9CTN5}.
uniprot
proteins