Seroatlas · Human Serome Atlas

TASP1

Threonine aspartase 1

Also known as: C20orf13, dJ585I14.2, FLJ20212, TASP1_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9H6P5
Gene: TASP1
Ensembl: ENSG00000089123
Chromosome: 20
Canonical length: 420 aa
Protein class: Disease related genes, Predicted intracellular proteins
Subcellular location: Plasma membrane

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

420 residues, UniProt reviewed canonical sequence.

>Q9H6P5|TASP1
     1  MTMEKGMSSG EGLPSRSSQV SAGKITAKEL ETKQSYKEKR GGFVLVHAGA GYHSESKAKE
    61  YKHVCKRACQ KAIEKLQAGA LATDAVTAAL VELEDSPFTN AGMGSNLNLL GEIECDASIM
   121  DGKSLNFGAV GALSGIKNPV SVANRLLCEG QKGKLSAGRI PPCFLVGEGA YRWAVDHGIP
   181  SCPPNIMTTR FSLAAFKRNK RKLELAERVD TDFMQLKKRR QSSEKENDSG TLDTVGAVVV
   241  DHEGNVAAAV SSGGLALKHP GRVGQAALYG CGCWAENTGA HNPYSTAVST SGCGEHLVRT
   301  ILARECSHAL QAEDAHQALL ETMQNKFISS PFLASEDGVL GGVIVLRSCR CSAEPDSSQN
   361  KQTLLVEFLW SHTTESMCVG YMSAQDGKAK THISRLPPGA VAGQSVAIEG GVCRLESPVN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TASP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.29
Highest tissue expression: 27 nTPM

Expression across tissuesHPA

Tissue

blood vessel: 27 nTPM
thymus: 12 nTPM
parathyroid gland: 8.2 nTPM
fallopian tube: 7.6 nTPM
thyroid gland: 7.3 nTPM
pituitary gland: 7 nTPM

Single-cell type

thymocytes: 1,667 nCPM
lactotrophs: 346 nCPM
somatotrophs: 314 nCPM
gonadotrophs: 262 nCPM
corticotrophs: 253 nCPM
thyrotrophs: 250 nCPM

Immune cell

plasmacytoid DC: 19 nTPM
naive CD4 T-cell: 19 nTPM
NK-cell: 15 nTPM
naive CD8 T-cell: 14 nTPM
T-reg: 13 nTPM
memory CD4 T-cell: 13 nTPM

Brain region

choroid plexus: 18 nTPM
white matter: 15 nTPM
cerebral cortex: 15 nTPM
hypothalamus: 15 nTPM
thalamus: 14 nTPM
midbrain: 13 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TASP1.

Disease | AllUniProt

Conditions TASP1 is implicated in, by any mechanism.

Suleiman-El-Hattab syndrome (SULEHS) MIM:618950

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 92 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Suleiman-El-Hattab syndrome
Global developmental delay
Multiple congenital anomalies
Developmental delay
Distinctive facial features

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.42
gnomAD pLI: 0.61
gnomAD missense Z: 1.58
DepMap mean gene effect: -0.09
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 11% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TASP1 as an antibody target. Whether an autoantibody or antibody against TASP1 could matter depends on whether native TASP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TASP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label TASP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...