SLC39A13: Zinc Transporter ZIP13
A key regulator of zinc homeostasis in connective tissue development and disease
Gene Information Card
| Symbol | SLC39A13 |
|---|---|
| Full Name | Solute Carrier Family 39 Member 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 91252 ncbi.nlm.nih.gov/gene/91252 |
| Ensembl ID | ENSG00000165915 |
| UniProt ID | Q96LZ3 |
| OMIM ID | 608735 |
| HGNC ID | 20859 |
| Aliases | ZIP13, LZT-Hs9, FLJ34779 |
Description
SLC39A13 encodes ZIP13, a member of the Zrt/Irt-like protein (ZIP) family that transports zinc from the extracellular space or intracellular vesicles into the cytoplasm. ZIP13 is essential for proper connective tissue development, particularly collagen processing and crosslinking. Loss-of-function mutations cause spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS), characterized by skeletal dysplasia, joint laxity, and skin hyperextensibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) | Loss-of-function mutations in SLC39A13 impair zinc import into the Golgi apparatus, disrupting lysyl oxidase (LOX) activity and collagen crosslinking. | OMIM #612350; multiple case reports and functional studies |
| Ehlers-Danlos syndrome, spondylodysplastic type 3 | Same mechanism as SCD-EDS; allelic disorder. | OMIM #612350; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skin | 12.5 | Medium |
| Bone | 8.3 | Low |
| Lung | 15.1 | Medium |
| Liver | 6.7 | Low |
| Kidney | 9.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Fibroblasts (skin) | 18.2 | High expression |
| Osteoblasts | 11.5 | Medium expression |
| HeLa | 7.8 | Low expression |
| HEK293 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.221G>A (p.Gly74Asp) | Missense | Rare | Loss of function; reduced zinc transport activity |
| c.335C>T (p.Pro112Leu) | Missense | Rare | Loss of function; impaired protein stability |
| c.487_489del (p.Phe163del) | Deletion | Rare | Loss of function; disrupted transmembrane domain |
Mutation functional classification
Loss of Function (LOF)
Most SLC39A13 mutations are loss-of-function, leading to reduced zinc import into the Golgi and defective collagen crosslinking.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • Zinc ion transmembrane transporter activity (GO:0005385) | • Zinc ion import across plasma membrane (GO:0070577) |
| • Cellular zinc ion homeostasis (GO:0006882) | • Golgi membrane (GO:0000139) |
| • Collagen fibril organization (GO:0030199) |
Pathways
• Zinc homeostasis (Reactome: R-HSA-435354)
• Collagen formation (Reactome: R-HSA-1474290)
Protein Summary
ZIP13 is a 369-amino acid transmembrane protein with eight predicted transmembrane domains. It localizes to the Golgi apparatus and plasma membrane, mediating zinc uptake into the Golgi lumen. This zinc is required for lysyl oxidase (LOX) activity, which crosslinks collagen and elastin. Loss of ZIP13 function leads to reduced LOX activity, resulting in fragile connective tissue characteristic of SCD-EDS.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SLC39A13 Knockout HEK293 Cell Line | EDJ-KQ1374 | Human | 91252 | Details Get a Quote |
| SLC39A13 Knockout A-549 Cell Line | EDJ-KQ22167 | Human | 91252 | Details Get a Quote |
| SLC39A13 Knockout HCT 116 Cell Line | EDC07723 | Human | 91252 | Details Get a Quote |
| SLC39A13 Knockout HeLa Cell Line | EDJ-KQ22170 | Human | 91252 | Details Get a Quote |
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