SARNP
SAP Domain Containing Ribonucleoprotein
Gene Information Card
| Symbol | SARNP |
|---|---|
| Full Name | SAP domain containing ribonucleoprotein |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.11 |
| NCBI Gene ID | 84324 ncbi.nlm.nih.gov/gene/84324 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | P82979 |
| OMIM ID | 609326 |
| HGNC ID | 24437 |
| Aliases | CIP29, HCC1, HSPC316, THO1 |
Description
SARNP (SAP domain containing ribonucleoprotein) encodes a protein involved in mRNA export and cell cycle regulation. It is a component of the THO complex and interacts with the TREX complex to facilitate nuclear export of spliced mRNAs. The protein contains a SAP domain, which is a DNA-binding motif, and is implicated in cellular proliferation and stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hepatocellular carcinoma | Overexpression of SARNP may promote cell proliferation and tumorigenesis through enhanced mRNA export and cell cycle progression. | PMID: 15616553 |
| Breast cancer | SARNP is upregulated in breast cancer tissues and associated with poor prognosis, potentially via regulation of cell cycle genes. | PMID: 21573172 |
| Colorectal cancer | Increased SARNP expression correlates with tumor stage and metastasis, possibly through modulation of THO complex activity. | PMID: 23468844 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Spleen | 8.7 | Medium |
| Liver | 6.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 15.4 | Cervical cancer cell line |
| HEK293 | 12.1 | Embryonic kidney cell line |
| HepG2 | 11.8 | Hepatocellular carcinoma cell line |
| MCF7 | 10.5 | Breast cancer cell line |
| K562 | 9.2 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon, predicted loss of function |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | Unknown significance, rare variant |
| c.200A>G (p.Asn67Ser) | missense | <0.01% | Unknown significance, rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in COSMIC or ClinVar.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • nucleoplasm (GO:0005654) | • nucleus (GO:0005634) |
| • protein binding (GO:0005515) | • RNA binding (GO:0003723) |
| • mRNA export from nucleus (GO:0006406) | • RNA splicing (GO:0008380) |
| • cell cycle (GO:0007049) |
Pathways
• mRNA export pathway (Reactome: R-HSA-72163)
• THO complex pathway (Reactome: R-HSA-72172)
• TREX complex pathway (Reactome: R-HSA-72165)
Protein Summary
The SARNP protein (UniProt P82979) is a 204-amino acid ribonucleoprotein containing an N-terminal SAP domain. It localizes to the nucleus and is a component of the THO/TREX complex, which couples transcription elongation to mRNA export. SARNP is involved in cell cycle progression and is overexpressed in several cancers, suggesting a role in tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SARNP Knockout HEK293 Cell Line | EDJ-KQ51839 | Human | 84324 | Details Get a Quote |
| SARNP Knockout HeLa Cell Line | EDJ-KQ57581 | Human | 84324 | Details Get a Quote |
| SARNP Knockout A-549 Cell Line | EDJ-KQ66077 | Human | 84324 | Details Get a Quote |
| SARNP Knockout HCT 116 Cell Line | EDJ-KQ74499 | Human | 84324 | Details Get a Quote |
