AlphaFold predicted structure
KHDRBS1 · Q07666

Mean pLDDT
64.9/ 100
Low
443 residues
Confidence breakdown
- Very high(≥ 90)26%
- Confident(70–90)13%
- Low(50–70)23%
- Very low(< 50)38%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
KH RNA binding domain containing, signal transduction associated 1
Annotations refreshed 9 hours ago.
Moderate Evidence (Amber)
COVID-19 research
UnknownPrimary ovarian insufficiency
MONOALLELIC, autosomal or pseudoautosomal, NOT imprintedprimary ovarian failure
eye disorder
spermatocele
neoplasm
cancer
breast cancer
colorectal carcinoma
breast carcinoma
posterior cortical atrophy
polycystic ovary syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
KH domain-containing, RNA-binding, signal transduction-associated protein 1
Recruited and tyrosine phosphorylated by several receptor systems, for example the T-cell, leptin and insulin receptors. Once phosphorylated, functions as an adapter protein in signal transduction cascades by binding to SH2 and SH3 domain-containing proteins. Role in G2-M progression in the cell cycle. Represses CBP-dependent transcriptional activation apparently by competing with other nuclear factors for binding to CBP. Also acts as a putative regulator of mRNA stability and/or translation rates and mediates mRNA nuclear export. Positively regulates the association of constitutive transport element (CTE)-containing mRNA with large polyribosomes and translation initiation. According to some authors, is not involved in the nucleocytoplasmic export of unspliced (CTE)-containing RNA species according to (PubMed:22253824). RNA-binding protein that plays a role in the regulation of alternative splicing and influences mRNA splice site selection and exon inclusion. Binds to RNA containing 5'-[AU]UAA-3' as a bipartite motif spaced by more than 15 nucleotides. Binds poly(A). Can regulate CD44 alternative splicing in a Ras pathway-dependent manner (PubMed:26080397). In cooperation with HNRNPA1 modulates alternative splicing of BCL2L1 by promoting splicing toward isoform Bcl-X(S), and of SMN1 (PubMed:17371836, PubMed:20186123). Can regulate alternative splicing of NRXN1 and NRXN3 in the laminin G-like domain 6 containing the evolutionary conserved neurexin alternative spliced segment 4 (AS4) involved in neurexin selective targeting to postsynaptic partners. In a neuronal activity-dependent manner cooperates synergistically with KHDRBS2/SLIM-1 in regulation of NRXN1 exon skipping at AS4. The cooperation with KHDRBS2/SLIM-1 is antagonistic for regulation of NXRN3 alternative splicing at AS4 (By similarity)
KHDRBS1 · Q07666

Mean pLDDT
64.9/ 100
Low
443 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0