SERINC1: Serine Incorporator 1
A transmembrane protein involved in serine incorporation and viral restriction
Gene Information Card
| Symbol | SERINC1 |
|---|---|
| Full Name | Serine Incorporator 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 6q22.31 |
| NCBI Gene ID | 57515 ncbi.nlm.nih.gov/gene/57515 |
| Ensembl ID | ENSG00000111897 |
| UniProt ID | Q9NRX5 |
| OMIM ID | 614119 |
| HGNC ID | 17833 |
| Aliases | TDE1, TDE, LOH1CR1L |
Description
SERINC1 encodes a transmembrane protein that facilitates the incorporation of serine into membrane phospholipids, particularly phosphatidylserine and sphingolipids. It is also known to restrict HIV-1 infectivity by incorporating into viral particles and impairing fusion, counteracted by the HIV-1 Nef protein. The gene is located on chromosome 6q22.31 and is broadly expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| HIV-1 Infection (restriction factor) | SERINC1 is incorporated into HIV-1 virions, reducing viral infectivity; Nef counteracts this by downregulating SERINC1 from the cell surface. | PMID: 25891006, PMID: 25891007 |
| Cancer (potential tumor suppressor) | Loss of heterozygosity at 6q22.31 may contribute to tumorigenesis; SERINC1 expression is altered in some cancers. | COSMIC, PMID: 10435629 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.7 | Low |
| Liver | 5.1 | Low |
| Kidney | 4.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | High expression |
| HeLa | 10.1 | Moderate expression |
| Jurkat | 7.8 | Low expression |
| HepG2 | 6.2 | Low expression |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon, unknown functional effect |
| c.325C>T (p.Arg109Trp) | Missense | Rare | Substitution in transmembrane domain, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data:
Gene Ontology (GO)
| • phosphatidylcholine biosynthetic process (GO:0006656) | • phosphatidylserine metabolic process (GO:0006658) |
| • integral component of membrane (GO:0016021) | • retrograde transport (GO:0042147) |
| • negative regulation of viral entry into host cell (GO:0046597) |
Pathways
• Sphingolipid metabolism (Reactome: R-HSA-428157)
• HIV-1 Nef-mediated downregulation of SERINC (Reactome: R-HSA-162590)
Protein Summary
SERINC1 is a 460-amino acid transmembrane protein with 11 predicted membrane-spanning domains. It localizes to the plasma membrane and endosomes, where it facilitates serine incorporation into phospholipids. The protein also acts as a host restriction factor against HIV-1 by reducing viral fusion; this activity is antagonized by HIV-1 Nef. SERINC1 is broadly expressed, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SERINC1 Knockout HEK293 Cell Line | EDJ-KQ14447 | Human | 57515 | Details Get a Quote |
| SERINC1 Knockout A-549 Cell Line | EDJ-KQ45893 | Human | 57515 | Details Get a Quote |
| SERINC1 Knockout HCT 116 Cell Line | EDJ-KQ45895 | Human | 57515 | Details Get a Quote |
| SERINC1 Knockout HeLa Cell Line | EDJ-KQ45896 | Human | 57515 | Details Get a Quote |