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.
View complete mutation data:
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 Services
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 |
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