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.

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 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
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