SLC30A5

Chr 5q13.1-q13.2

solute carrier family 30 member 5

Aliases:: ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5
MANE:: ENST00000396591.8

OMIM: 607819 ↗NCBI: 64924 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC30A5 · Q8TAD4

v62025-08-01

Predicted Aligned Error matrix for SLC30A5 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

76.3/ 100

Confident

765 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)44%
Low(50–70)12%
Very low(< 50)15%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Fetal hydrops
BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

hydrops fetalis
0.33
hypertrophic cardiomyopathy
0.33
Concentric hypertrophic cardiomyopathy
0.33
Noncompaction cardiomyopathy
0.33
Abnormality of the skeletal system
0.32
Sensorineural hearing impairment
0.25
hypertensive disorder
0.24
pathological myopia
0.24
ovarian dysfunction
0.24
skin disorder
0.24

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Proton-coupled zinc antiporter SLC30A5

Together with SLC30A6 forms a functional proton-coupled zinc ion antiporter mediating zinc entry into the lumen of organelles along the secretory pathway (PubMed:11904301, PubMed:15525635, PubMed:15994300, PubMed:19366695, PubMed:22529353). By contributing to zinc ion homeostasis within the early secretory pathway, regulates the activation and folding of enzymes like alkaline phosphatases and enzymes involved in phosphatidylinositol glycan anchor biosynthesis (PubMed:15525635, PubMed:15994300, PubMed:16636052, PubMed:35525268). Through the transport of zinc into secretory granules of pancreatic beta-cells, plays an important role in the storage and secretion of insulin (PubMed:11904301)