SYCP3
entrez
50511
canonical
uniprot
Q8IZU3
canonical
ensembl
ENSG00000139351
resolver
ensp
ENSP00000266743
resolver
ensp
ENSP00000376655
resolver
ensp
ENSP00000376658
resolver
enst
ENST00000266743
resolver
enst
ENST00000392924
resolver
enst
ENST00000392927
resolver
genesymbol
SYCP3
resolver
genesymbol_syn
SCP3
resolver
hgnc
HGNC:18130
resolver
uniprot_entry
SYCP3_HUMAN
resolver
amino_acid_sequence
MVSSGKKYSRKSGKPSVEDQFTRAYDFETEDKKDLSGSEEDVIEGKTAVIEKRRKKRSSAGVVEDMGGEVQNMLEGVGVDINKALLAKRKRLEMYTKASLKTSNQKIEHVWKTQQDQRQKLNQEYSQQFLTLFQQWDLDMQKAEEQEEKILNMFRQQQKILQQSRIVQSQRLKTIKQLYEQFIKSMEELEKNHDNLLTGAQNEFKKEMAMLQKKIMMETQQQEIASVRKSLQSMLF
uniprot
proteins
disease_involvement
DISEASE: Spermatogenic failure 4 (SPGF4) [MIM:270960]: An infertility disorder characterized by azoospermia, a condition of having no sperm present in the ejaculate. Testicular histology shows arrest of spermatogenesis at the pachytene stage of primary spermatocytes. {ECO:0000269|PubMed:14643120}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Pregnancy loss, recurrent, 4 (RPRGL4) [MIM:270960]: A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. {ECO:0000269|PubMed:19110213}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the synaptonemal complexes (SCS), formed between homologous chromosomes during meiotic prophase. Required for centromere pairing during meiosis in male germ cells (By similarity). Required for normal meiosis during spermatogenesis and male fertility (PubMed:14643120). Plays a lesser role in female fertility. Required for efficient phosphorylation of HORMAD1 and HORMAD2 (By similarity). {ECO:0000250|UniProtKB:P70281, ECO:0000269|PubMed:14643120}.
uniprot
proteins
mass_dalton
27729
uniprot
proteins
mutagenesis
MUTAGEN 52..57; /note="KRRKKR->AAAAAA: Impairs DNA binding. Abolishes DNA binding; when associated with 88-A--A-91."; /evidence="ECO:0000269|PubMed:24950965"; MUTAGEN 69..74; /note="EVQNML->AAAAAA: Abolishes fiber formation."; /evidence="ECO:0000269|PubMed:24950965"; MUTAGEN 88..91; /note="KRKR->AAAA: Impairs DNA binding. Abolishes DNA binding; when associated with 52-A--A-57."; /evidence="ECO:0000269|PubMed:24950965"; MUTAGEN 231..236; /note="Missing: Abolishes fiber formation."; /evidence="ECO:0000269|PubMed:24950965
uniprot
proteins
post_translational_modification
PTM: Phosphorylated. {ECO:0000250|UniProtKB:P70281}.
uniprot
proteins
protein_family
XLR/SYCP3 family
uniprot
proteins
pubmed
12213195
uniprot
proteins
pubmed
14643120
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
19110213
uniprot
proteins
pubmed
24950965
uniprot
proteins
sequence_length
236
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q60547}. Chromosome {ECO:0000250|UniProtKB:Q60547}. Chromosome, centromere {ECO:0000250|UniProtKB:Q60547}. Note=It is present in early unpaired cores, in the lateral domains of the synaptonemal complex and in the chromosome cores when they separate at diplotene. It is found axial to the metaphase I chromosomes and in association with pairs of sister centromeres. The centromere-associated protein becomes dissociated from the centromeres at anaphase II and is not found in mitotic metaphase centromeres. {ECO:0000250|UniProtKB:Q60547}.
uniprot
proteins