SLC35E1: Solute Carrier Family 35 Member E1

A nucleotide-sugar transporter with emerging roles in cellular glycosylation and disease association.

Gene Information Card

Symbol SLC35E1
Full Name Solute carrier family 35 member E1
Gene Type Protein coding
Chromosomal Location 19p13.11
NCBI Gene ID 7157 ncbi.nlm.nih.gov/gene/7157
Ensembl ID ENSG00000104879
UniProt ID Q96K37
OMIM ID 610819
HGNC ID 11021
Aliases FLJ20291, MGC138499

Description

SLC35E1 encodes a member of the solute carrier family 35 (SLC35) of nucleotide-sugar transporters. These proteins are localized to the Golgi apparatus and endoplasmic reticulum membranes and mediate the transport of nucleotide sugars into the lumen for glycosylation reactions. SLC35E1 is predicted to function as a UDP-sugar transporter, though its specific substrate specificity remains under investigation. The gene is widely expressed and has been implicated in cellular glycosylation processes.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Colorectal cancer Altered expression may affect glycosylation patterns contributing to tumor progression. NCBI Gene, COSMIC
Hepatocellular carcinoma Dysregulation of SLC35E1 expression observed in liver cancer tissues. NCBI Gene, COSMIC

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 Medium
Kidney 9.8 Medium
Brain 6.2 Low
Heart 5.1 Low
Lung 8.4 Medium
Cell Line Expression
Cell Line nTPM Notes
HepG2 14.2 Hepatocellular carcinoma cell line
HEK293 11.0 Embryonic kidney cell line
A549 9.5 Lung carcinoma cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.104G>A (p.Arg35His) Missense <0.01% Unknown functional effect
c.457C>T (p.Pro153Ser) Missense <0.01% Unknown functional effect
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.

Pathways

Nucleotide-sugar transport (Reactome: R-HSA-425407)
Glycosylation (Reactome: R-HSA-597592)

Protein Summary

SLC35E1 is a 338-amino acid multi-pass transmembrane protein localized to the Golgi membrane. It belongs to the triose-phosphate transporter (TPT) subfamily of SLC35 transporters. The protein contains 10 predicted transmembrane helices and is involved in the transport of nucleotide sugars from the cytosol into the Golgi lumen, a critical step for glycoconjugate biosynthesis. Structural studies suggest a conserved substrate-binding pocket, but the exact transported sugar remains to be fully characterized.

Related Products

Product name Cat.No. Species Gene ID
SLC35E1 Knockout HEK293 Cell Line EDJ-KQ14541 Human 79939 Details Get a Quote
SLC35E1 Knockout A-549 Cell Line EDJ-KQ46043 Human 79939 Details Get a Quote
SLC35E1 Knockout HCT 116 Cell Line EDJ-KQ46045 Human 79939 Details Get a Quote
SLC35E1 Knockout HeLa Cell Line EDJ-KQ46046 Human 79939 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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