SPINK1

Chr 5q32

serine peptidase inhibitor Kazal type 1

Aliases:: Spink3, PCTT, PSTI, TATI
MANE:: ENST00000296695.10

OMIM: 167790 ↗NCBI: 6690 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

SPINK1 · P00995

v62025-08-01

Predicted Aligned Error matrix for SPINK1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.2/ 100

Confident

79 residues

Confidence breakdown

Very high(≥ 90)60%
Confident(70–90)29%
Low(50–70)11%
Very low(< 50)0%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Pancreatitis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Diabetes with additional phenotypes suggestive of a monogenic aetiology

Disease associations (Open Targets)

hereditary chronic pancreatitis
0.75
chronic pancreatitis
0.72
acute pancreatitis
0.50
pancreas disorder
0.47
pancreatitis
0.46
alcoholic pancreatitis
0.42
diabetes mellitus
0.34
non-alcoholic pancreatitis
0.27
hepatocellular carcinoma
0.12
neoplasm
0.12

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

Protein function (UniProt)

Serine protease inhibitor Kazal-type 1

Serine protease inhibitor which exhibits anti-trypsin activity (PubMed:7142173). In the pancreas, protects against trypsin-catalyzed premature activation of zymogens (By similarity)

Curated MONDO disease pages that list SPINK1 among their top associated genes.

posterior cortical atrophyRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with SPINK1