AlphaFold predicted structure
SYNCRIP · O60506

Mean pLDDT
70.6/ 100
Confident
623 residues
Confidence breakdown
- Very high(≥ 90)39%
- Confident(70–90)22%
- Low(50–70)6%
- Very low(< 50)33%
AlphaFold (Jumper et al., 2021) · CC BY 4.0
synaptotagmin binding cytoplasmic RNA interacting protein
Annotations refreshed 9 hours ago.
Diagnostic Grade (Green)
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownEarly onset or syndromic epilepsy
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownDDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknownSYNCRIP-related neurodevelopmental disorder
Global developmental delay
autism
autism spectrum disorder
Intellectual disability
Generalized myoclonic-atonic seizure
complex neurodevelopmental disorder
digestive system disorder
ovarian dysfunction
alcohol drinking
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Heterogeneous nuclear ribonucleoprotein Q
Heterogenous nuclear ribonucleoprotein (hnRNP) implicated in mRNA processing mechanisms. Component of the CRD-mediated complex that promotes MYC mRNA stability. Isoform 1, isoform 2 and isoform 3 are associated in vitro with pre-mRNA, splicing intermediates and mature mRNA protein complexes. Isoform 1 binds to apoB mRNA AU-rich sequences. Isoform 1 is part of the APOB mRNA editosome complex and may modulate the postranscriptional C to U RNA-editing of the APOB mRNA through either by binding to A1CF (APOBEC1 complementation factor), to APOBEC1 or to RNA itself. May be involved in translationally coupled mRNA turnover. Implicated with other RNA-binding proteins in the cytoplasmic deadenylation/translational and decay interplay of the FOS mRNA mediated by the major coding-region determinant of instability (mCRD) domain. Interacts in vitro preferentially with poly(A) and poly(U) RNA sequences. Isoform 3 may be involved in cytoplasmic vesicle-based mRNA transport through interaction with synaptotagmins. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediates interferon-gamma-induced transcript-selective translation inhibition in inflammation processes. Upon interferon-gamma activation assembles into the GAIT complex which binds to stem loop-containing GAIT elements in the 3'-UTR of diverse inflammatory mRNAs (such as ceruplasmin) and suppresses their translation; does not seem to be essential for GAIT complex function
SYNCRIP · O60506

Mean pLDDT
70.6/ 100
Confident
623 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0