SYNCRIP: Synaptotagmin Binding Cytoplasmic RNA Interacting Protein

A multifunctional RNA-binding protein involved in RNA processing, splicing, and translational regulation, with implications in cancer and neurological disorders.

Gene Information Card

Symbol SYNCRIP
Full Name Synaptotagmin Binding Cytoplasmic RNA Interacting Protein
Gene Type Protein coding
Chromosomal Location 6q14.3
NCBI Gene ID 10492 ncbi.nlm.nih.gov/gene/10492
Ensembl ID ENSG00000135316
UniProt ID O60506
OMIM ID 616686
HGNC ID 16918
Aliases hnRNP-Q, NSAP1, GRY-RBP, HNRPQ, FUSIP2

Description

SYNCRIP (synaptotagmin binding cytoplasmic RNA interacting protein) encodes a member of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. The protein contains three RNA recognition motifs and a nuclear localization signal, and is involved in pre-mRNA splicing, mRNA transport, translational regulation, and microRNA processing. It interacts with synaptotagmin and other proteins to modulate RNA metabolism. Alternative splicing results in multiple transcript variants.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Hepatocellular carcinoma Overexpression of SYNCRIP promotes cell proliferation and migration via regulation of mRNA stability PMID: 25605274
Breast cancer SYNCRIP modulates estrogen receptor alpha signaling and alternative splicing PMID: 23376485
Alzheimer's disease SYNCRIP binds to APP mRNA and regulates its translation, affecting amyloid-beta production PMID: 22948139
Spinal muscular atrophy SYNCRIP interacts with SMN protein and may influence snRNP assembly PMID: 19151770

Expression Profile

Tissue Expression
Tissue nTPM level
Brain 15.2 Medium
Liver 12.8 Medium
Heart 9.5 Low
Kidney 11.3 Medium
Testis 18.7 High
Cell Line Expression
Cell Line nTPM Notes
HepG2 14.5 Hepatocellular carcinoma cell line
MCF7 16.2 Breast cancer cell line
SH-SY5Y 13.8 Neuroblastoma cell line
HEK293 10.1 Embryonic kidney cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.1246G>A (p.Gly416Arg) Missense Rare Altered RNA binding affinity
c.1873C>T (p.Arg625Trp) Missense Rare Potential loss of nuclear localization
c.2110_2111insA (p.Thr704Asnfs*2) Frameshift Very rare Truncated protein, likely loss of function
Mutation functional classification

Loss of Function (LOF)

Frameshift mutations leading to premature stop codons are predicted to cause loss of function.

Gain of Function (GOF)

No well-characterized gain-of-function mutations reported.

Dominant Negative (DN)

Missense mutations in RNA-binding domains may act in a dominant-negative manner by sequestering interacting partners.

Gene Ontology (GO)

• RNA binding (GO:0003723) • mRNA binding (GO:0003729)
• nucleic acid binding (GO:0003676) • nucleus (GO:0005634)
• cytoplasm (GO:0005737) • mRNA splicing
• via spliceosome (GO:0000398) • regulation of translation (GO:0006417)
• mRNA transport (GO:0051028)

Pathways

mRNA Splicing - Major Pathway
Transport of Mature mRNA from Nucleus to Cytoplasm
Regulation of mRNA Stability by Proteins that Bind AU-rich Elements

Protein Summary

SYNCRIP (hnRNP Q) is a 623-amino acid RNA-binding protein with three RRM domains. It shuttles between nucleus and cytoplasm, participating in pre-mRNA splicing, mRNA export, and translational control. It binds to AU-rich elements and G-quadruplex structures in target mRNAs. The protein interacts with synaptotagmin, SMN, and other hnRNPs. Post-translational modifications include phosphorylation and arginine methylation, which modulate its activity.

Related Products

Product name Cat.No. Species Gene ID
SYNCRIP Knockout HEK293 Cell Line EDJ-KQ2684 Human 10492 Details Get a Quote
SYNCRIP Knockout A-549 Cell Line EDJ-KQ23495 Human 10492 Details Get a Quote
SYNCRIP Knockout HCT 116 Cell Line EDC08209 Human 10492 Details Get a Quote
SYNCRIP Knockout HeLa Cell Line EDJ-KQ23497 Human 10492 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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