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

Gene ID: 151516, updated on 6-Nov-2022

Summary

Official Symbol
ASPRV1provided by HGNC
Official Full Name
aspartic peptidase retroviral like 1provided by HGNC
Primary source
HGNC:HGNC:26321
See related
Ensembl:ENSG00000179818 Ensembl:ENSG00000244617 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

See ASPRV1 in Genome Data Viewer
Location:
2p13.3
Exon count:
18
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (69932717..70087375, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (69944439..70099099, complement)
105.20220307 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 small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 10436 Neighboring gene MAX dimerization protein 1 Neighboring gene small nucleolar RNA U13 Neighboring gene Sharpr-MPRA regulatory region 1834 Neighboring gene PCBP1 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 12254 Neighboring gene RNA, 7SL, cytoplasmic 470, pseudogene Neighboring gene conserved acetylation island sequence C15 enhancer Neighboring gene uncharacterized LOC124906022 Neighboring gene poly(rC) binding protein 1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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

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_152792.4NP_690005.3  retroviral-like aspartic protease 1

    Status: REVIEWED

    Source sequence(s)
    AC079811
    Consensus CDS
    CCDS1897.2
    Related
    ENSP00000315383.5, ENST00000320256.6
    Conserved Domains (1) summary
    cd00303
    Location:114206
    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
    ENST00000682294.1
  10. NR_170639.1 RNA Sequence

    Status: REVIEWED

    Source sequence(s)
    AC016700, AC079811
    Related
    ENST00000419542.5

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)