Q53RT3

PR
Gene name
ASPRV1
Protein name
Retroviral-like aspartic protease 1
Names
Skin-specific retroviral-like aspartic protease, SASPase, Skin aspartic protease, TPA-inducible aspartic proteinase-like protein, TAPS
Species
Homo sapiens (Human)
KEGG Pathway
hsa:151516
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-129 (Predicted disordered autoinhibitory region) PR

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q53RT3

Entry ID Method Resolution Chain Position Source
AF-Q53RT3-F1 Predicted AlphaFoldDB

4 variants for Q53RT3

Variant ID(s) Position Change Description Diseaes Association Provenance
VAR_084554 199 K>E ADLI; impairs filaggrin cleavage [UniProt] Yes UniProt
VAR_084555 311 R>P ADLI; impairs filaggrin cleavage [UniProt] Yes UniProt
VAR_084556 314 P>T ADLI; impairs filaggrin cleavage [UniProt] Yes UniProt
VAR_051508
rs3796097
 49 T>A No UniProt
dbSNP

1 associated diseases with Q53RT3

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

An autosomal dominant form of ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling. ADLI is characterized by onset at birth or within the first months of life, skin scaling on the entire body with relative sparing of face, anterior chest, and abdomen, and palmoplantar keratoderma. Patients may manifest mild erythema and moderate pruritus. {ECO:0000269|PubMed:32516568}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal dominant form of ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling. ADLI is characterized by onset at birth or within the first months of life, skin scaling on the entire body with relative sparing of face, anterior chest, and abdomen, and palmoplantar keratoderma. Patients may manifest mild erythema and moderate pruritus. {ECO:0000269|PubMed:32516568}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for Q53RT3

Type Name Position InterPro Accession
active_site Aspartic peptidase, active site 209 - 220 IPR001969
domain Peptidase A2A, retrovirus, catalytic 207 - 288 IPR001995

Functions

Description
EC Number
Subcellular Localization
  • Membrane ; Single-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

1 GO annotations of cellular component

Name Definition
integral component of membrane The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

1 GO annotations of molecular function

Name Definition
aspartic-type endopeptidase activity Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which a water molecule bound by the side chains of aspartic residues at the active center acts as a nucleophile.

2 GO annotations of biological process

Name Definition
protein processing Any protein maturation process achieved by the cleavage of a peptide bond or bonds within a protein. Protein maturation is the process leading to the attainment of the full functional capacity of a protein.
skin development The process whose specific outcome is the progression of the skin over time, from its formation to the mature structure. The skin is the external membranous integument of an animal. In vertebrates the skin generally consists of two layers, an outer nonsensitive and nonvascular epidermis (cuticle or skarfskin) composed of cells which are constantly growing and multiplying in the deeper, and being thrown off in the superficial layers, as well as an inner vascular dermis (cutis, corium or true skin) composed mostly of connective tissue.

No homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
No homologous proteins
10 20 30 40 50 60
MGSPGASLGI KKALQSEQAT ALPASAPAVS QPTAPAPSCL PKAGQVIPTL LREAPFSSVI
70 80 90 100 110 120
APTLLCGFLF LAWVAAEVPE ESSRMAGSGA RSEEGRRQHA FVPEPFDGAN VVPNLWLHSF
130 140 150 160 170 180
EVINDLNHWD HITKLRFLKE SLRGEALGVY NRLSPQDQGD YGTVKEALLK AFGVPGAAPS
190 200 210 220 230 240
HLPKEIVFAN SMGKGYYLKG KIGKVPVRFL VDSGAQVSVV HPNLWEEVTD GDLDTLQPFE
250 260 270 280 290 300
NVVKVANGAE MKILGVWDTA VSLGKLKLKA QFLVANASAE EAIIGTDVLQ DHNAILDFEH
310 320 330 340
RTCTLKGKKF RLLPVGGSLE DEFDLELIEE DPSSEEGRQE LSH