KHDC3L report

I. Expression across cell types

Insufficient scRNA-seq data for expression of KHDC3L at single-cell level.

II. Expression across tissues

sc-RNAseq data

Insufficient scRNA-seq data for expression of KHDC3L at tissue level.

III. Associated gene sets

GO_0032880Biological processregulation of protein localization
GO_0050769Biological processpositive regulation of neurogenesis
GO_0040019Biological processpositive regulation of embryonic development
GO_0031297Biological processreplication fork processing
GO_1900006Biological processpositive regulation of dendrite development
GO_0043066Biological processnegative regulation of apoptotic process
GO_0007015Biological processactin filament organization
GO_0051656Biological processestablishment of organelle localization
GO_1905168Biological processpositive regulation of double-strand break repair via homologous recombination
GO_2000781Biological processpositive regulation of double-strand break repair
GO_0005739Cellular componentmitochondrion
GO_0005813Cellular componentcentrosome
GO_0106333Cellular componentsubcortical maternal complex
GO_0032991Cellular componentprotein-containing complex
GO_0005938Cellular componentcell cortex
GO_0005737Cellular componentcytoplasm
GO_0005694Cellular componentchromosome
GO_0005634Cellular componentnucleus
GO_0003723Molecular functionRNA binding
GO_0005515Molecular functionprotein binding

IV. Literature review

[source]
Gene nameKHDC3L
Protein nameKH domain-containing protein 3 (ES cell-associated transcript 1 protein) (KHDC3-like protein)
SynonymsC6orf221
ECAT1
DescriptionFUNCTION: 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 . 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). As a member of the subcortical maternal complex (SCMC), plays an essential role for zygotes to progress beyond the first embryonic cell divisions via regulation of actin dynamics (By similarity). Required for maintenance of euploidy during cleavage-stage embryogenesis (By similarity). Required for the formation of F-actin cytoplasmic lattices in oocytes which in turn are responsible for symmetric division of zygotes via the regulation of mitotic spindle formation and positioning (By similarity). 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). 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). .

AccessionsENST00000370367.4
Q587J8