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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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TASP1
taspase 1
Chromosome 20 Β· 20p12.1
NCBI Gene: 55617Ensembl: ENSG00000089123.17HGNC: HGNC:15859UniProt: Q9H6P5
40PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
threonine-type endopeptidase activityidentical protein bindingproteolysispositive regulation of DNA-templated transcriptionSuleiman-El-Hattab syndromeNeurodevelopmental disorderGlobal developmental delayAbnormal facial shape
✦AI Summary

TASP1 (taspase 1) is a highly conserved threonine protease located on chromosome 20 that functions as a critical activator of histone methyltransferases and transcriptional regulators. Its primary function involves proteolytic cleavage and activation of KMT2A/MLL1 and KMT2D/MLL2 1, histone methyltransferases essential for transcription regulation. Beyond its canonical substrates, TASP1 cleaves TFIIA, a basal transcription factor critical for embryonic hematopoiesis and skeletal development 2, and processes Myo1f to regulate filopodia dynamics in immune cells 3. Through substrate activation, TASP1 controls expression of HOX genes and cell cycle regulators including CCNA1, CCNB1, CCNE1, and CDKN2A 1. In cancer contexts, TASP1 is upregulated and promotes proliferation and metastasis in gastric and gallbladder cancers via AKT/PI3K signaling pathways 45. Homozygous loss-of-function TASP1 variants cause Suleiman-El-Hattab syndrome, a neurodevelopmental disorder characterized by developmental delay, hypotonia, distinctive facial features, cardiovascular malformations, and skeletal abnormalities 67. This syndrome represents a histone modification disorder with methylation patterns intermediate between normal controls and Kabuki syndrome, underscoring TASP1's critical role in epigenetic gene regulation 68.

Sources cited
1
TASP1 is responsible for KMT2A/MLL1 processing and activation, and controls HOX and cell cycle regulator expression
PMID: 14636557
2
Taspase1-mediated cleavage of TFIIA is required for fetal liver hematopoiesis and axial skeleton segmental identity
PMID: 34156981
3
TASP1 proteolytically processes Myo1f to antagonize filopodia formation in immune cells
PMID: 35601920
4
TASP1 is upregulated in gastric cancer and promotes proliferation and migration via EMT and AKT/p-AKT pathways
PMID: 34012990
5
TASP1 is overexpressed in gallbladder cancer and promotes proliferation and metastasis via PI3K/AKT signaling
PMID: 32071545
6
Homozygous TASP1 loss-of-function causes Suleiman-El-Hattab syndrome with developmental delay, congenital anomalies, and HOX gene downregulation
PMID: 35512351
7
Homozygous TASP1 loss-of-function variants cause a syndrome of developmental delay, hypotonia, facial features, and congenital anomalies
PMID: 31209944
8
TASP1 deficiency causes histone methylation disorders classified within the group of histone modification syndromes
PMID: 35713103
Disease Associationsβ“˜21
Suleiman-El-Hattab syndromeOpen Targets
0.68Moderate
Neurodevelopmental disorderOpen Targets
0.37Weak
Global developmental delayOpen Targets
0.34Weak
Abnormal facial shapeOpen Targets
0.33Weak
Happy demeanorOpen Targets
0.33Weak
chondrocalcinosisOpen Targets
0.28Weak
femur fractureOpen Targets
0.28Weak
developmental disabilityOpen Targets
0.27Weak
multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityOpen Targets
0.27Weak
response to antihypertensive drugOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
heart diseaseOpen Targets
0.11Weak
azoospermiaOpen Targets
0.10Suggestive
neoplasmOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.07Suggestive
gastric cancerOpen Targets
0.07Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
Suleiman-El-Hattab syndromeUniProt
Pathogenic Variants5
NM_017714.3(TASP1):c.675+1G>TLikely pathogenic
Suleiman-El-Hattab syndrome
β˜…β˜†β˜†β˜†2025
NM_017714.3(TASP1):c.701C>T (p.Thr234Met)Likely pathogenic
Abnormal facial shape;Global developmental delay;Happy demeanor|Suleiman-El-Hattab syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 234
NM_017714.3(TASP1):c.404-2A>GLikely pathogenic
Suleiman-El-Hattab syndrome
β˜…β˜†β˜†β˜†2023
NC_000020.10:g.13448380_13597783delLikely pathogenic
Multiple congenital anomalies;Developmental delay;Distinctive facial features|Suleiman-El-Hattab syndrome
β˜…β˜†β˜†β˜†2017
NM_017714.3(TASP1):c.199C>T (p.Arg67Ter)Pathogenic
Global developmental delay|Suleiman-El-Hattab syndrome
β˜†β˜†β˜†β˜†2020β†’ Residue 67
View on ClinVar β†—
Related Genes
KLK10Shared pathway100%KLK11Shared pathway100%KLK13Shared pathway100%KLK12Shared pathway100%KLK15Shared pathway100%PRSS57Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
87%
Ovary
83%
Lung
83%
Liver
62%
Brain
50%
Gene Interaction Network
Click a node to explore
TASP1KLK10KLK11KLK13KLK12KLK15PRSS57
PROTEIN STRUCTURE
Preparing viewer…
PDB2A8J Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.52Moderately Constrained
pLIβ“˜
0.96Intolerant
Observed/Expected LoF0.32 [0.20–0.52]
RankingsWhere TASP1 stands among ~20K protein-coding genes
  • #10,249of 20,598
    Most Researched40
  • #3,598of 5,498
    Most Pathogenic Variants5
  • #3,194of 17,882
    Most Constrained (LOEUF)0.52 Β· top quartile
Genes detectedTASP1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The Taspase1/Myosin1f-axis regulates filopodia dynamics.
PMID: 35601920
iScience Β· 2022
1.00
2
TASP1 Promotes Proliferation and Migration in Gastric Cancer via EMT and AKT/P-AKT Pathway.
PMID: 34012990
J Immunol Res Β· 2021
0.90
3
TASP1 Promotes Gallbladder Cancer Cell Proliferation and Metastasis by Up-regulating FAM49B via PI3K/AKT Pathway.
PMID: 32071545
Int J Biol Sci Β· 2020
0.80
4
Taspase1 orchestrates fetal liver hematopoietic stem cell and vertebrae fates by cleaving TFIIA.
PMID: 34156981
JCI Insight Β· 2021
0.70
5
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
PMID: 31209944
Hum Mutat Β· 2019
0.60