KHDC3L
entrez
154288
canonical
uniprot
Q587J8
canonical
ensembl
ENSG00000203908
resolver
ensp
ENSP00000359392
resolver
enst
ENST00000370367
resolver
genesymbol
KHDC3L
resolver
genesymbol_syn
C6orf221
resolver
genesymbol_syn
ECAT1
resolver
hgnc
HGNC:33699
resolver
uniprot
B2RNW7
resolver
uniprot_entry
KHDC3_HUMAN
resolver
uniprot_sec
B2RNW7
resolver
amino_acid_sequence
MDAPRRFPTLVQLMQPKAMPVEVLGHLPKRFSWFHSEFLKNPKVVRLEVWLVEKIFGRGGERIPHVQGMSQILIHVNRLDPNGEAEILVFGRPSYQEDTIKMIMNLADYHRQLQAKGSGKALAQDVATQKAETQRSSIEVREAGTQRSVEVREAGTQRSVEVQEVGTQGSPVEVQEAGTQQSLQAANKSGTQRSPEAASKAVTQRFREDARDPVTRL
uniprot
proteins
disease_involvement
DISEASE: Hydatidiform mole, recurrent, 2 (HYDM2) [MIM:614293]: A disorder characterized by excessive trophoblast development that produces a growing mass of tissue inside the uterus at the beginning of a pregnancy. It leads to abnormal pregnancies with no embryo, and cystic degeneration of the chorionic villi. {ECO:0000269|PubMed:21885028, ECO:0000269|PubMed:23963444}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Component of the subcortical maternal complex (SCMC), a multiprotein complex that plays a key role in early embryonic development (By similarity). The SCMC complex is a structural constituent of cytoplasmic lattices, which consist in fibrous structures found in the cytoplasm of oocytes and preimplantation embryos (By similarity). They are required to store maternal proteins critical for embryonic development, such as ribosomal proteins, cytoskeletal tubulins and proteins controlling epigenetic reprogramming of the preimplantation embryo, in a poised but restrained state, regulating their availability for early embryonic development (By similarity). Cytoplasmic lattices also tightly control ubiquitination during the oocyte-to-embryo transition by trapping E3 ubiquitin-protein ligase UHRF1 in a compact autoinhibited conformation and maintaining SCF ubiquitin ligase complexes inactive (By similarity). KHDC3 ensures proper spindle assembly by regulating the localization of AURKA via RHOA signaling and of PLK1 via a RHOA-independent process (By similarity). Required for the localization of MAD2L1 to kinetochores to enable spindle assembly checkpoint function (By similarity). As part of the OOEP-KHDC3 scaffold, recruits BLM and TRIM25 to DNA replication forks, thereby promoting the ubiquitination of BLM by TRIM25, enhancing BLM retainment at replication forks and therefore promoting stalled replication fork restart (By similarity). Regulates homologous recombination-mediated DNA repair via recruitment of RAD51 to sites of DNA double-strand breaks, and sustainment of PARP1 activity, which in turn modulates downstream ATM or ATR activation (PubMed:31609975). Activation of ATM or ATR in response to DNA double-strand breaks may be cell-type specific (By similarity). Its role in DNA double-strand break repair is independent of its role in restarting stalled replication forks (By similarity). Promotes neural stem cell neurogenesis and neuronal differentiation in the hippocampus (By similarity). May regulate normal development of learning, memory and anxiety (By similarity). Capable of binding RNA (By similarity). {ECO:0000250|UniProtKB:Q9CWU5, ECO:0000269|PubMed:31609975}.
uniprot
proteins
mass_dalton
24306
uniprot
proteins
mutagenesis
MUTAGEN 145; /note="T->A: Decreases recruitment of RAD51 to DNA double-strand breaks, PARP1 activity and ATM-CHK2 signaling resulting in a decrease in DNA double-strand break repair."; /evidence="ECO:0000269|PubMed:31609975"; MUTAGEN 150..172; /note="Missing: Abolishes DNA double-strand break repair. Reduces the localization of the homologous recombination DNA repair pathway protein RAD51 to sites of DNA double-strand breaks. May exhibit a dominant negative effect on PARP1 activation, homologous recombination repair and ATM-CHK2 signaling. No effect on restart of stalled replication forks, nascent DNA stability, localization to DNA double-strand break repair sites or interaction with PARP1."; /evidence="ECO:0000269|PubMed:31609975"; MUTAGEN 150..159; /note="Missing: Abolishes DNA double-strand break repair. Reduces the localization of the homologous recombination DNA repair pathway protein RAD51 to sites of DNA double-strand breaks. May exhibit a dominant negative effect on PARP1 activation, homologous recombination repair and ATM-CHK2 signaling. No effect on restart of stalled replication forks, nascent DNA stability, localization to DNA double-strand break repair sites or interaction with PARP1."; /evidence="ECO:0000269|PubMed:31609975"; MUTAGEN 156; /note="T->A: Decreases recruitment of RAD51 to DNA double-strand breaks, PARP1 activity and ATM-CHK2 signaling resulting in a decrease in DNA double-strand break repair."; /evidence="ECO:0000269|PubMed:31609975"; MUTAGEN 156; /note="T->D: No effect on recruitment of RAD51 to DNA double-strand breaks, PARP1 activity, ATM-CHK2 signaling or DNA double-strand break repair."; /evidence="ECO:0000269|PubMed:31609975
uniprot
proteins
protein_family
KHDC1 family
uniprot
proteins
pubmed
12787504
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
17913455
uniprot
proteins
pubmed
21885028
uniprot
proteins
pubmed
23963444
uniprot
proteins
pubmed
25542835
uniprot
proteins
pubmed
26537248
uniprot
proteins
pubmed
31609975
uniprot
proteins
pubmed
37148315
uniprot
proteins
sequence_length
217
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250|UniProtKB:Q9CWU5}. Cytoplasm, cell cortex {ECO:0000269|PubMed:25542835}. Nucleus {ECO:0000269|PubMed:25542835}. Mitochondrion {ECO:0000250|UniProtKB:Q9CWU5}. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome {ECO:0000250|UniProtKB:Q9CWU5}. Chromosome {ECO:0000269|PubMed:31609975}. Note=Core component of cytoplasmic lattices in oocytes (By similarity). Expressed in the subcortex of oocytes (By similarity). Located throughout the cell cortex of ovulated eggs in a complex with NLRP5 (By similarity). After fertilization, restricted to the apical cortex and excluded from regions of cell-cell contact (By similarity). Localized to centrosomes during interphase and mitosis (By similarity). Localizes to sites of DNA double-strand break repair (PubMed:31609975). {ECO:0000250|UniProtKB:Q9CWU5, ECO:0000269|PubMed:31609975}.
uniprot
proteins