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ASPRV1 aspartic peptidase retroviral like 1 [ Homo sapiens (human) ]

Gene ID: 151516, updated on 2-Nov-2024

Summary

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Official Symbol
ASPRV1provided by HGNC
Official Full Name
aspartic peptidase retroviral like 1provided by HGNC
Primary source
HGNC:HGNC:26321
See related
Ensembl:ENSG00000293615 MIM:611765; AllianceGenome:HGNC:26321
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ADLI; MUNO; SASP; Taps; SASPase
Summary
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]
Orthologs
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Genomic context

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See ASPRV1 in Genome Data Viewer
Location:
2p13.3
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (69932717..70087375, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (69944439..70099099, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70159849..70314507, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70120713-70121648 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70121649-70122583 Neighboring gene small nuclear ribonucleoprotein U4/U6.U5 subunit 27 Neighboring gene small nucleolar RNA U13 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15980 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70141467-70142072 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11602 Neighboring gene Sharpr-MPRA regulatory region 10436 Neighboring gene MAX dimerization protein 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70164441-70164976 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:70173615-70174814 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 1834 Neighboring gene PCBP1 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70199285-70200162 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70202867-70203378 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70203379-70203889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70211622-70212122 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70212123-70212623 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:70220299-70220798 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:70224580-70224834 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15983 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:70256223-70257094 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15984 Neighboring gene Sharpr-MPRA regulatory region 12254 Neighboring gene RNA, 7SL, cytoplasmic 470, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15986 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15988 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15987 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11603 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11604 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:70315031-70315675 Neighboring gene conserved acetylation island sequence C15 enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11605 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 11606 Neighboring gene uncharacterized LOC124906022 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 15989 Neighboring gene poly(rC) binding protein 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. Biochemical Characterization of Human Retroviral-Like Aspartic Protease 1 (ASPRV1). Golda M, et al. Biomolecules, 2020 Jul 6. PMID 32640672, Free PMC Article
  2. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis. Boyden LM, et al. Am J Hum Genet, 2020 Jul 2. PMID 32516568, Free PMC Article
  3. SASPase regulates stratum corneum hydration through profilaggrin-to-filaggrin processing. Matsui T, et al. EMBO Mol Med, 2011 Jun. PMID 21542132, Free PMC Article
  4. Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin. Sandilands A, et al. J Invest Dermatol, 2012 May. PMID 22318384, Free PMC Article
  5. Identification and characterization of a novel retroviral-like aspartic protease specifically expressed in human epidermis. Bernard D, et al. J Invest Dermatol, 2005 Aug. PMID 16098038

See all (27) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Biochemical Characterization of Human Retroviral-Like Aspartic Protease 1 (ASPRV1).
    Title: Biochemical Characterization of Human Retroviral-Like Aspartic Protease 1 (ASPRV1).
  2. Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
    Title: Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.
  3. Filaggrin and filaggrin 2 processing are linked together through skin aspartic acid protease activation.
    Title: Filaggrin and filaggrin 2 processing are linked together through skin aspartic acid protease activation.
  4. results failed to find an association between ASPRV1 gene mutations and atopic eczema or clinically dry skin in the European populations studied
    Title: Mutations in the SASPase gene (ASPRV1) are not associated with atopic eczema or clinically dry skin.
  5. SASPase activity is indispensable for processing profilaggrin and maintaining the texture and hydration of the stratum corneum.
    Title: SASPase regulates stratum corneum hydration through profilaggrin-to-filaggrin processing.
  6. Taps expression is negatively associated with dedifferentiation and malignant progression in squamous cell carcinomas of the skin.
    Title: A novel aspartic proteinase-like gene expressed in stratified epithelia and squamous cell carcinoma of the skin.
  7. Identification and characterization of a new member of the aspartic proteases family, a unique epidermal retroviral-like protease, Skin ASpartic Protease.
    Title: Identification and characterization of a novel retroviral-like aspartic protease specifically expressed in human epidermis.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Autosomal dominant lamellar ichthyosis
MedGen: C0432304 OMIM: 146750 GeneReviews: Not available
not available

EBI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables aspartic-type endopeptidase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in protein processing IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in skin development ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
located_in membrane NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
retroviral-like aspartic protease 1
Names
TPA-inducible aspartic proteinase-like protein
skin aspartic protease
skin-specific retroviral-like aspartic protease

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_054918.2 RefSeqGene

    Range
    130744..132286
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152792.4 → NP_690005.3  retroviral-like aspartic protease 1

    Status: REVIEWED

    Source sequence(s)
    AC079811
    Consensus CDS
    CCDS1897.2
    Conserved Domains (1) summary
    cd00303
    Location:114 → 206
    retropepsin_like; Retropepsins; pepsin-like aspartate proteases

RNA

  1. NR_170375.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016700, AC019206, AC079811

  2. NR_170376.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016700, AC019206, AC079811

  3. NR_170631.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016700, AC079811

  4. NR_170632.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016700, AC079811

  5. NR_170634.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016700, AC079811

  6. NR_170635.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016700, AC079811

  7. NR_170636.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016700, AC079811

  8. NR_170637.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016700, AC079811

  9. NR_170638.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016700, AC079811
    Related
    ENST00000682294.2

  10. NR_170639.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016700, AC079811
    Related
    ENST00000419542.6

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    69932717..70087375 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    69944439..70099099 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q53RT3.1 GenPept UniProtKB/Swiss-Prot:Q53RT3

Gene LinkOut

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Chemical Information
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