REC114
entrez
283677
canonical
uniprot
Q7Z4M0
canonical
ensembl
ENSG00000183324
resolver
ensp
ENSP00000328423
resolver
ensp
ENSP00000452908
resolver
enst
ENST00000331090
resolver
enst
ENST00000560581
resolver
genesymbol
REC114
resolver
genesymbol_syn
C15orf60
resolver
hgnc
HGNC:25065
resolver
uniprot
H0YKR2
resolver
uniprot_entry
H0YKR2_HUMAN
resolver
uniprot_entry
RE114_HUMAN
resolver
amino_acid_sequence
MAEAGKVPLSLGLTGGEAAEWPLQRYARCIPSNTRDPPGPCLEAGTAPCPTWKVFDSNEESGYLVLTIVISGHFFIFQGQTLLEGFSLIGSKDWLKIVRRVDCLLFGTTIKDKSRLFRVQFSGESKEQALEHCCSCVQKLAQYITVQVPDGNIQELQLIPGPPRATESQGKDSAKSVPRQPGSHQHSEQQQVCVTAGTGAPDGRTSLTQLAQTLLASEELPHVYEQSAWGAEELGPFLRLCLMDQNFPAFVEEVEKELKKLAGLRN
uniprot
proteins
disease_involvement
DISEASE: Oocyte/zygote/embryo maturation arrest 10 (OZEMA10) [MIM:619176]: An autosomal recessive infertility disorder due to abnormal fertilization of mature oocytes, with development of multiple pronuclei or absent pronucleus, and early embryonic arrest. {ECO:0000269|PubMed:31704776}. Note=The gene represented in this entry is involved in disease pathogenesis.
uniprot
proteins
function
FUNCTION: Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination (PubMed:38148155). Activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis (By similarity). Required for both spermatogenesis and oogenesis (PubMed:31704776, PubMed:38148155). {ECO:0000250|UniProtKB:Q9CWH4, ECO:0000269|PubMed:31704776, ECO:0000269|PubMed:38148155}.
uniprot
proteins
mass_dalton
29155
uniprot
proteins
protein_family
REC114 family
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
31704776
uniprot
proteins
pubmed
38148155
uniprot
proteins
sequence_length
266
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Chromosome {ECO:0000250|UniProtKB:Q9CWH4}. Note=Located in discrete foci on the axes of meiotic chromosomes. The number of foci is highest at leptonema and decreases at zygonema. {ECO:0000250|UniProtKB:Q9CWH4}.
uniprot
proteins