TASP1 - taspase 1 Gene

Homo sapiens

Also known as SULEHS; C20orf13; dJ585I14.2

Gene ID: 55617 | Gene type: protein coding

About TASP1

Cytogenetic location: 20p12.1 Genomic coordinates (GRCh38): 20:13,104,772-13,638,932 (from NCBI)

This gene has 7 transcripts (splice variants), 203 orthologues, 2 paralogues and is associated with 2 phenotypes. Ubiquitous expression in thyroid (RPKM 2.9), testis (RPKM 2.2) and 25 other tissues.

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 heterotetramer. It is required to cleave MLL, a protein required for the maintenance of HOX gene expression, and TFIIA, a basal transcription factor. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

TASP1 Products(4)

mRNA	Protein	Name
NM_001323602.2	NP_001310531.1	threonine aspartase 1 isoform 2
NM_001323603.2	NP_001310532.1	threonine aspartase 1 isoform 3
NM_001323604.2	NP_001310533.1	threonine aspartase 1 isoform 3
NM_017714.3	NP_060184.2	threonine aspartase 1 isoform 1 precursor

TASP1 Protein Structure

Asparaginase_2

0
100
200
300
420 a.a.

Protein Preferred Names

Protein Names

threonine aspartase 1

Related Diseases

Diseases

Alias

Suleiman-El-Hattab Syndrome

SULEHS

Balantidiasis

Balantidiosis	Human Balantidiasis
B Coli Infection	Balantidium Coli Infection
Large-Intestinal Infection With Balantidium Coli	Ciliary Dysentery

Bjornstad Syndrome

BJS	Pili Torti And Nerve Deafness
Ptd	Pili Torti-Deafness Syndrome
Deafness-Pili Torti-Hypogonadism Syndrome	Deafness And Pili Torti, Bjornstad Type
Pili Torti-Sensorineural Hearing Loss	Björnstad Syndrome
Ptnd	Hearing Loss-Pili Torti-Hypogonadism Syndrome
Bjoernstad Syndrome

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Kabuki Syndrome 1

Kabuki Syndrome	Niikawa-Kuroki Syndrome
Kabuki Make-Up Syndrome	Kms
KABUK1	Kabuki Make Up Syndrome
Nks	Kabuki Makeup Syndrome
Kabuki Syndrome, Type 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14224	TASP1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TASP1	MGD	MGI:1923062
Rattus norvegicus	TASP1	RGD	RGD:1308591
Bos taurus	TASP1	VGNC	VGNC:35615
Macaca mulatta	TASP1	VGNC	VGNC:78129
Canis familiaris	TASP1	VGNC	VGNC:47122
Felis catus	TASP1	VGNC	VGNC:65964

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