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

    Gene ID: 151516, updated on 9-Dec-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
    		Compare labs

    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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    NEW Try the new Transcript table

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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