Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55617
Gene name	Taspase 1
Gene symbol	TASP1
Synonyms (NCBI Gene)	C20orf13SULEHSdJ585I14.2
Chromosome	20
Chromosome location	20p12.1
Summary	This gene encodes an endopeptidase that cleaves specific substrates following aspartate residues. The encoded protein undergoes posttranslational autoproteolytic processing to generate alpha and beta subunits, which reassemble into the active alpha2-beta2

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs904200599	G>A	Pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant, 3 prime UTR variant
rs1200336864	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant, 5 prime UTR variant

176

Show/Hide all (176)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029922	hsa-miR-26b-5p	Microarray	19088304
MIRT446593	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT446591	hsa-miR-4503	PAR-CLIP	22100165
MIRT446593	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT446591	hsa-miR-4503	PAR-CLIP	22100165
MIRT726384	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT726385	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT726383	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT726382	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT446593	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT446591	hsa-miR-4503	PAR-CLIP	22100165
MIRT446593	hsa-miR-100-3p	PAR-CLIP	22100165
MIRT446591	hsa-miR-4503	PAR-CLIP	22100165
MIRT1411586	hsa-miR-1343	CLIP-seq
MIRT1411587	hsa-miR-30a	CLIP-seq
MIRT1411588	hsa-miR-30b	CLIP-seq
MIRT1411589	hsa-miR-30c	CLIP-seq
MIRT1411590	hsa-miR-30d	CLIP-seq
MIRT1411591	hsa-miR-30e	CLIP-seq
MIRT1411592	hsa-miR-342-3p	CLIP-seq
MIRT1411593	hsa-miR-377	CLIP-seq
MIRT1411594	hsa-miR-3939	CLIP-seq
MIRT1411595	hsa-miR-4422	CLIP-seq
MIRT1411596	hsa-miR-4464	CLIP-seq
MIRT1411597	hsa-miR-4528	CLIP-seq
MIRT1411598	hsa-miR-4748	CLIP-seq
MIRT1411599	hsa-miR-4789-5p	CLIP-seq
MIRT1411600	hsa-miR-587	CLIP-seq
MIRT1411601	hsa-miR-603	CLIP-seq
MIRT1411602	hsa-miR-885-5p	CLIP-seq
MIRT2123590	hsa-miR-3150b-3p	CLIP-seq
MIRT2123591	hsa-miR-340	CLIP-seq
MIRT2123592	hsa-miR-4689	CLIP-seq
MIRT2123593	hsa-miR-4784	CLIP-seq
MIRT2345672	hsa-miR-1253	CLIP-seq
MIRT2345673	hsa-miR-148a	CLIP-seq
MIRT2345674	hsa-miR-148b	CLIP-seq
MIRT2345675	hsa-miR-152	CLIP-seq
MIRT2345676	hsa-miR-15a	CLIP-seq
MIRT2345677	hsa-miR-15b	CLIP-seq
MIRT2345678	hsa-miR-16	CLIP-seq
MIRT2345679	hsa-miR-1912	CLIP-seq
MIRT2345680	hsa-miR-195	CLIP-seq
MIRT2345681	hsa-miR-3120-3p	CLIP-seq
MIRT2345682	hsa-miR-3130-5p	CLIP-seq
MIRT2345683	hsa-miR-3163	CLIP-seq
MIRT2123591	hsa-miR-340	CLIP-seq
MIRT2345684	hsa-miR-424	CLIP-seq
MIRT2345685	hsa-miR-4251	CLIP-seq
MIRT2345686	hsa-miR-4329	CLIP-seq
MIRT2345687	hsa-miR-4482	CLIP-seq
MIRT2345688	hsa-miR-4519	CLIP-seq
MIRT2345689	hsa-miR-4684-3p	CLIP-seq
MIRT2345690	hsa-miR-4711-3p	CLIP-seq
MIRT2345691	hsa-miR-497	CLIP-seq
MIRT2345692	hsa-miR-516a-5p	CLIP-seq
MIRT2345693	hsa-miR-581	CLIP-seq
MIRT2345694	hsa-miR-592	CLIP-seq
MIRT2345695	hsa-miR-599	CLIP-seq
MIRT2638578	hsa-miR-1255a	CLIP-seq
MIRT2638579	hsa-miR-1255b	CLIP-seq
MIRT2638580	hsa-miR-1263	CLIP-seq
MIRT1411586	hsa-miR-1343	CLIP-seq
MIRT2638581	hsa-miR-140-3p	CLIP-seq
MIRT2638582	hsa-miR-146a	CLIP-seq
MIRT2638583	hsa-miR-146b-5p	CLIP-seq
MIRT2638584	hsa-miR-1471	CLIP-seq
MIRT2345673	hsa-miR-148a	CLIP-seq
MIRT2345674	hsa-miR-148b	CLIP-seq
MIRT2345675	hsa-miR-152	CLIP-seq
MIRT2345676	hsa-miR-15a	CLIP-seq
MIRT2345677	hsa-miR-15b	CLIP-seq
MIRT2345678	hsa-miR-16	CLIP-seq
MIRT2638585	hsa-miR-186	CLIP-seq
MIRT2345680	hsa-miR-195	CLIP-seq
MIRT2638586	hsa-miR-2053	CLIP-seq
MIRT2638587	hsa-miR-3074-5p	CLIP-seq
MIRT1411587	hsa-miR-30a	CLIP-seq
MIRT1411588	hsa-miR-30b	CLIP-seq
MIRT1411589	hsa-miR-30c	CLIP-seq
MIRT1411590	hsa-miR-30d	CLIP-seq
MIRT1411591	hsa-miR-30e	CLIP-seq
MIRT2345681	hsa-miR-3120-3p	CLIP-seq
MIRT2638588	hsa-miR-3133	CLIP-seq
MIRT2345683	hsa-miR-3163	CLIP-seq
MIRT2638589	hsa-miR-3189-5p	CLIP-seq
MIRT2123591	hsa-miR-340	CLIP-seq
MIRT2638590	hsa-miR-365	CLIP-seq
MIRT1411593	hsa-miR-377	CLIP-seq
MIRT2345684	hsa-miR-424	CLIP-seq
MIRT1411595	hsa-miR-4422	CLIP-seq
MIRT2638591	hsa-miR-4436b-5p	CLIP-seq
MIRT1411596	hsa-miR-4464	CLIP-seq
MIRT2638592	hsa-miR-4475	CLIP-seq
MIRT2345688	hsa-miR-4519	CLIP-seq
MIRT2638593	hsa-miR-4661-3p	CLIP-seq
MIRT2345689	hsa-miR-4684-3p	CLIP-seq
MIRT2638594	hsa-miR-4709-5p	CLIP-seq
MIRT2345690	hsa-miR-4711-3p	CLIP-seq
MIRT2638595	hsa-miR-4747-3p	CLIP-seq
MIRT1411598	hsa-miR-4748	CLIP-seq
MIRT2638596	hsa-miR-4758-3p	CLIP-seq
MIRT2638597	hsa-miR-4772-3p	CLIP-seq
MIRT2638598	hsa-miR-495	CLIP-seq
MIRT2345691	hsa-miR-497	CLIP-seq
MIRT2345692	hsa-miR-516a-5p	CLIP-seq
MIRT2638599	hsa-miR-518e	CLIP-seq
MIRT2638600	hsa-miR-548ac	CLIP-seq
MIRT2638601	hsa-miR-548ae	CLIP-seq
MIRT2638602	hsa-miR-548aj	CLIP-seq
MIRT2638603	hsa-miR-548am	CLIP-seq
MIRT2638604	hsa-miR-548d-3p	CLIP-seq
MIRT2638605	hsa-miR-548g	CLIP-seq
MIRT2638606	hsa-miR-548x	CLIP-seq
MIRT2638607	hsa-miR-548z	CLIP-seq
MIRT2638608	hsa-miR-577	CLIP-seq
MIRT2345693	hsa-miR-581	CLIP-seq
MIRT2638609	hsa-miR-582-3p	CLIP-seq
MIRT2638610	hsa-miR-589	CLIP-seq
MIRT2345694	hsa-miR-592	CLIP-seq
MIRT2638611	hsa-miR-597	CLIP-seq
MIRT2345695	hsa-miR-599	CLIP-seq
MIRT2638612	hsa-miR-606	CLIP-seq
MIRT2638613	hsa-miR-668	CLIP-seq
MIRT2638614	hsa-miR-891b	CLIP-seq
MIRT2638578	hsa-miR-1255a	CLIP-seq
MIRT2638579	hsa-miR-1255b	CLIP-seq
MIRT2638580	hsa-miR-1263	CLIP-seq
MIRT2638581	hsa-miR-140-3p	CLIP-seq
MIRT2638582	hsa-miR-146a	CLIP-seq
MIRT2638583	hsa-miR-146b-5p	CLIP-seq
MIRT2638584	hsa-miR-1471	CLIP-seq
MIRT2345673	hsa-miR-148a	CLIP-seq
MIRT2345674	hsa-miR-148b	CLIP-seq
MIRT2345675	hsa-miR-152	CLIP-seq
MIRT2345676	hsa-miR-15a	CLIP-seq
MIRT2345677	hsa-miR-15b	CLIP-seq
MIRT2345678	hsa-miR-16	CLIP-seq
MIRT2638585	hsa-miR-186	CLIP-seq
MIRT2345680	hsa-miR-195	CLIP-seq
MIRT2638586	hsa-miR-2053	CLIP-seq
MIRT2638587	hsa-miR-3074-5p	CLIP-seq
MIRT2345681	hsa-miR-3120-3p	CLIP-seq
MIRT2638588	hsa-miR-3133	CLIP-seq
MIRT2345683	hsa-miR-3163	CLIP-seq
MIRT2638589	hsa-miR-3189-5p	CLIP-seq
MIRT2123591	hsa-miR-340	CLIP-seq
MIRT2638590	hsa-miR-365	CLIP-seq
MIRT1411593	hsa-miR-377	CLIP-seq
MIRT2345684	hsa-miR-424	CLIP-seq
MIRT2638591	hsa-miR-4436b-5p	CLIP-seq
MIRT1411596	hsa-miR-4464	CLIP-seq
MIRT2638592	hsa-miR-4475	CLIP-seq
MIRT2345688	hsa-miR-4519	CLIP-seq
MIRT2638593	hsa-miR-4661-3p	CLIP-seq
MIRT2345689	hsa-miR-4684-3p	CLIP-seq
MIRT2638594	hsa-miR-4709-5p	CLIP-seq
MIRT2345690	hsa-miR-4711-3p	CLIP-seq
MIRT2638595	hsa-miR-4747-3p	CLIP-seq
MIRT1411598	hsa-miR-4748	CLIP-seq
MIRT2638596	hsa-miR-4758-3p	CLIP-seq
MIRT2638597	hsa-miR-4772-3p	CLIP-seq
MIRT2345691	hsa-miR-497	CLIP-seq
MIRT2345692	hsa-miR-516a-5p	CLIP-seq
MIRT2638599	hsa-miR-518e	CLIP-seq
MIRT2638605	hsa-miR-548g	CLIP-seq
MIRT2638608	hsa-miR-577	CLIP-seq
MIRT2345693	hsa-miR-581	CLIP-seq
MIRT2638609	hsa-miR-582-3p	CLIP-seq
MIRT2638610	hsa-miR-589	CLIP-seq
MIRT2345694	hsa-miR-592	CLIP-seq
MIRT2638611	hsa-miR-597	CLIP-seq
MIRT2345695	hsa-miR-599	CLIP-seq
MIRT2638612	hsa-miR-606	CLIP-seq
MIRT2638613	hsa-miR-668	CLIP-seq
MIRT2638614	hsa-miR-891b	CLIP-seq

Show/Hide all (14)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004298	Function	Threonine-type endopeptidase activity	IBA
GO:0004298	Function	Threonine-type endopeptidase activity	IEA
GO:0004298	Function	Threonine-type endopeptidase activity	IMP	14636557
GO:0004298	Function	Threonine-type endopeptidase activity	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0006508	Process	Proteolysis	IMP	22829979
GO:0008233	Function	Peptidase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0042802	Function	Identical protein binding	IPI	16216576
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	14636557
GO:0051604	Process	Protein maturation	IBA

MIM	HGNC	e!Ensembl
608270	15859	ENSG00000089123

Q9H6P5

Protein name

Threonine aspartase 1 (Taspase-1) (EC 3.4.25.-) [Cleaved into: Threonine aspartase subunit alpha; Threonine aspartase subunit beta]

Protein function

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 regulator

PDB

2A8I , 2A8J , 2A8L , 2A8M , 6UGK , 6VIN

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01112	Asparaginase_2	42 → 358	Asparaginase	Domain

Sequence

MTMEKGMSSGEGLPSRSSQVSAGKITAKELETKQSYKEKRGGFVLVHAGAGYHSESKAKE
YKHVCKRACQKAIEKLQAGALATDAVTAALVELEDSPFTNAGMGSNLNLLGEIECDASIM
DGKSLNFGAVGALSGIKNPVSVANRLLCEGQKGKLSAGRIPPCFLVGEGAYRWAVDHGIP
SCPPNIMTTRFSLAAFKRNKRKLELAERVDTDFMQLKKRRQSSEKENDSGTLDTVGAVVV
DHEGNVAAAVSSGGLALKHPGRVGQAALYGCGCWAENTGAHNPYSTAVSTSGCGEHLVRT
ILARECSHALQAEDAHQALLETMQNKFISSPFLASEDGVLGGVIVLRSCRCSAEPDSSQN
KQTLLVEFLWSHTTESMCVGYMSAQDGKAKTHISRLPPGAVAGQSVAIEGGVCRLESPVN

Sequence length

420

Interactions

View interactions

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal facial shape	Likely pathogenic	rs904200599	RCV000782350
Global developmental delay	Pathogenic; Likely pathogenic	rs1200336864, rs904200599	RCV000782139 RCV000782350
Happy demeanor	Likely pathogenic	rs904200599	RCV000782350
Suleiman-El-Hattab syndrome	Likely pathogenic; Pathogenic	rs2515530219, rs867871906, rs1200336864, rs904200599	RCV002510290 RCV003313813 RCV001250727 RCV001250726

Show/Hide Unknown Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs117248024	RCV005936827
Cervical cancer	Benign	rs117248024	RCV005936831
Clear cell carcinoma of kidney	Benign	rs117248024	RCV005936832
Colorectal cancer	Benign	rs117248024	RCV005936833
Familial cancer of breast	Benign	rs117248024	RCV005936826
Gastric cancer	Benign	rs117248024	RCV005936835
Hepatocellular carcinoma	Benign	rs117248024	RCV005936829
Lung cancer	Benign	rs117248024	RCV005936840
Malignant tumor of esophagus	Benign	rs117248024	RCV005936830
Malignant tumor of urinary bladder	Benign	rs117248024	RCV005936828
Melanoma	Benign	rs117248024	RCV005936839
Ovarian serous cystadenocarcinoma	Benign	rs117248024	RCV005936836
Sarcoma	Benign	rs117248024	RCV005936834
TASP1-related disorder	Benign; Likely benign; Uncertain significance	rs145022707, rs71334133, rs770972601, rs117248024, rs148869724, rs764843924, rs77527408, rs745426610, rs2070307, rs143872568	RCV003894767 RCV003974467 RCV003974544 RCV003894317 RCV003906813 RCV003906843 RCV003979554 RCV003899620 RCV003924606 RCV003934032 RCV003972036 RCV003924529 RCV003964327 RCV003957385
Thymoma	Benign	rs117248024	RCV005936837
Thyroid cancer, nonmedullary, 1	Benign	rs117248024	RCV005936838

Show/Hide Text Mining Associations (13)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma Islet Cell	Associate	33154504
Anemia Macrocytic	Associate	31350873
Anterior segment mesenchymal dysgenesis	Associate	31350873
Craniofacial Abnormalities	Associate	31350873
Diabetes Mellitus Type 1	Associate	33154504
Hematologic Neoplasms	Associate	31350873
Leukemia	Associate	26137584, 36766705
Leukemia Biphenotypic Acute	Associate	19631530
Leukemia Myeloid Acute	Associate	26137584
Neoplasms	Associate	19631530, 22570686, 31350873, 34012990, 36766705
Primary Immunodeficiency Diseases	Associate	31350873
Squamous Cell Carcinoma of Head and Neck	Associate	29097782
Stomach Neoplasms	Stimulate	34012990

TASP1 (taspase 1)