Seroatlas · Human Serome Atlas

ASPRV1

Retroviral-like aspartic protease 1

Also known as: APRV1_HUMAN, FLJ25084, SASPase, Taps

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

Protein identityUniProt · HPA

UniProt accession: Q53RT3
Gene: ASPRV1
Ensembl: ENSG00000244617
Chromosome: 2
Canonical length: 343 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location: Cytosol
Quaternary structure: Homodimer

OverviewNCBI Gene

Filaggrin is a structural protein that is crucial for in the development and maintenance of the skin barrier. This gene encodes a retroviral-like protease involved in profilaggrin-to-filaggrin processing. Expression is found primarily in the epidermis and inner root sheath of hair follicles. [provided by RefSeq, May 2017]

Canonical amino-acid sequenceUniProt

343 residues, UniProt reviewed canonical sequence.

>Q53RT3|ASPRV1
     1  MGSPGASLGI KKALQSEQAT ALPASAPAVS QPTAPAPSCL PKAGQVIPTL LREAPFSSVI
    61  APTLLCGFLF LAWVAAEVPE ESSRMAGSGA RSEEGRRQHA FVPEPFDGAN VVPNLWLHSF
   121  EVINDLNHWD HITKLRFLKE SLRGEALGVY NRLSPQDQGD YGTVKEALLK AFGVPGAAPS
   181  HLPKEIVFAN SMGKGYYLKG KIGKVPVRFL VDSGAQVSVV HPNLWEEVTD GDLDTLQPFE
   241  NVVKVANGAE MKILGVWDTA VSLGKLKLKA QFLVANASAE EAIIGTDVLQ DHNAILDFEH
   301  RTCTLKGKKF RLLPVGGSLE DEFDLELIEE DPSSEEGRQE LSH

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ASPRV1 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: Unknown
Secreted: No
Transmembrane segments: 1
Mean surface accessibility (rSASA): 0.47
Highest tissue expression: 615 nTPM

Expression across tissuesHPA

Tissue

skin: 615 nTPM
cervix: 24 nTPM
breast: 24 nTPM
spinal cord: 7.5 nTPM
midbrain: 5.3 nTPM
skeletal muscle: 4.9 nTPM

Single-cell type

oligodendrocytes: 4.4 nCPM
oligodendrocyte progenitor cells: 3.4 nCPM
astrocytes: 2.8 nCPM
bergmann glia: 1.8 nCPM
podocytes: 1.8 nCPM
ependymal cells: 1.7 nCPM

Immune cell

neutrophil: 11 nTPM
eosinophil: 2.1 nTPM
plasmacytoid DC: 1 nTPM
T-reg: 0.8 nTPM
gdT-cell: 0.5 nTPM
MAIT T-cell: 0.5 nTPM

Brain region

white matter: 17 nTPM
medulla oblongata: 12 nTPM
basal ganglia: 12 nTPM
midbrain: 11 nTPM
cerebral cortex: 10 nTPM
thalamus: 9.9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ASPRV1.

Disease | AllUniProt

Conditions ASPRV1 is implicated in, by any mechanism.

Ichthyosis, lamellar, autosomal dominant (ADLI) MIM:146750

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 62 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Autosomal dominant lamellar ichthyosis

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): 1.29
gnomAD pLI: 0.01
gnomAD missense Z: 0.13
DepMap mean gene effect: -0.12
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

aspartic-type endopeptidase activity

Cellular components

membrane

Protein domainsUniProt · Pfam · InterPro

Aspartic peptidase, active site
Peptidase A2A, retrovirus, catalytic
Aspartic peptidase domain superfamily
Retroviral-like aspartic protease 1
gag-polyprotein putative aspartyl protease

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ASPRV1 as an antibody target. Whether an autoantibody or antibody against ASPRV1 could matter depends on whether native ASPRV1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ASPRV1 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 ASPRV1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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