TASP1

Chr 20p12.1

taspase 1

Aliases:: FLJ20212, dJ585I14.2
MANE:: ENST00000337743.9

OMIM: 608270 ↗NCBI: 55617 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

TASP1 · Q9H6P5

v62025-08-01

Predicted Aligned Error matrix for TASP1 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

86.8/ 100

Confident

420 residues

Confidence breakdown

Very high(≥ 90)76%
Confident(70–90)6%
Low(50–70)5%
Very low(< 50)13%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomal
Intellectual disability
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Suleiman-El-Hattab syndrome
0.69
neurodevelopmental disorder
0.37
Global developmental delay
0.34
Happy demeanor
0.33
Abnormal facial shape
0.33
chondrocalcinosis
0.29
femur fracture
0.29
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
0.27
response to antihypertensive drug
0.20
hereditary disease
0.19

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

Protein function (UniProt)

Threonine aspartase 1

Protease responsible for KMT2A/MLL1 processing and activation (PubMed:14636557). It also activates KMT2D/MLL2 (By similarity). Through substrate activation, it controls the expression of HOXA genes, and the expression of key cell cycle regulators including CCNA1, CCNB1, CCNE1 and CDKN2A (By similarity) (PubMed:14636557)