SAC3D1: SAC3 Domain Containing Protein 1
A gene encoding a protein involved in nuclear mRNA export and cell cycle regulation
Gene Information Card
| Symbol | SAC3D1 |
|---|---|
| Full Name | SAC3 domain containing 1 |
| Gene Type | protein-coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 29901 ncbi.nlm.nih.gov/gene/29901 |
| Ensembl ID | ENSG00000110367 |
| UniProt ID | Q9H2G2 |
| OMIM ID | 615606 |
| HGNC ID | 24244 |
| Aliases | SAC3, SAC3D1, FLJ10324 |
Description
SAC3D1 (SAC3 domain containing 1) is a protein-coding gene located on chromosome 11q13.1. The encoded protein contains a SAC3 domain and is involved in nuclear mRNA export, cell cycle progression, and potentially in DNA damage response. SAC3D1 is part of the TREX-2 complex, which couples transcription to mRNA export. Alterations in SAC3D1 expression have been implicated in various cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Overexpression may promote cell proliferation and migration | COSMIC; PMID: 25691885 |
| Lung cancer | Dysregulation linked to poor prognosis | COSMIC; PMID: 28431213 |
| Colorectal cancer | Altered expression associated with tumor progression | COSMIC; PMID: 29348624 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Brain | 6.1 | Low |
| Liver | 4.8 | Low |
| Kidney | 3.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Embryonic kidney cells |
| HeLa | 10.7 | Cervical cancer cells |
| A549 | 8.9 | Lung cancer cells |
| MCF7 | 7.2 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.374C>T (p.Thr125Met) | Missense | 0.02% (gnomAD) | Unknown functional impact |
| c.521A>G (p.Asn174Ser) | Missense | 0.01% (gnomAD) | Unknown functional impact |
| c.788G>A (p.Arg263Gln) | Missense | 0.005% (gnomAD) | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • mRNA export from nucleus | • nuclear pore complex |
| • protein binding | • nucleus |
| • cytoplasm |
Pathways
• mRNA surveillance pathway
• TREX-2 complex
Protein Summary
SAC3D1 encodes a 45 kDa protein containing a SAC3 domain. It is a component of the TREX-2 complex, which mediates the coupling of transcription and mRNA export. The protein localizes to the nuclear pore and is involved in the export of poly(A)+ RNA. SAC3D1 may also play a role in cell cycle regulation and has been associated with cancer progression.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SAC3D1 Knockout HEK293 Cell Line | EDJ-KQ9073 | Human | 29901 | Details Get a Quote |
| SAC3D1 Knockout A-549 Cell Line | EDJ-KQ35552 | Human | 29901 | Details Get a Quote |
| SAC3D1 Knockout HCT 116 Cell Line | EDJ-KQ35553 | Human | 29901 | Details Get a Quote |
| SAC3D1 Knockout HeLa Cell Line | EDJ-KQ35554 | Human | 29901 | Details Get a Quote |
