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

Gene ID: 151516, updated on 3-Jun-2018
Official Symbol
ASPRV1provided by HGNC
Official Full Name
aspartic peptidase retroviral like 1provided by HGNC
Primary source
HGNC:HGNC:26321
See related
Ensembl:ENSG00000244617 MIM:611765; Vega:OTTHUMG00000129647
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
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
See ASPRV1 in Genome Data Viewer
Location:
2p13.3
Exon count:
1
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (69960089..69962265, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (70187221..70189397, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene small nuclear ribonucleoprotein U4/U6.U5 subunit 27 Neighboring gene MAX dimerization protein 1 Neighboring gene PCBP1 antisense RNA 1 Neighboring gene RNA, 7SL, cytoplasmic 470, pseudogene Neighboring gene conserved acetylation island sequence C15 enhancer Neighboring gene poly(rC) binding protein 1

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Genome-wide association study identifies three novel susceptibility loci for severe Acne vulgaris.
NHGRI GWA Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
aspartic-type endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
aspartic-type endopeptidase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
protein processing IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein processing IDA
Inferred from Direct Assay
more info
PubMed 
skin development ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
Preferred Names
retroviral-like aspartic protease 1
Names
TPA-inducible aspartic proteinase-like protein
skin aspartic protease
skin-specific retroviral-like aspartic protease

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_054918.1 RefSeqGene

    Range
    5001..7177
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_152792.2NP_690005.2  retroviral-like aspartic protease 1

    See identical proteins and their annotated locations for NP_690005.2

    Status: REVIEWED

    Source sequence(s)
    AC079811, AK055994, AK057813, BC031997
    Consensus CDS
    CCDS1897.1
    UniProtKB/Swiss-Prot
    Q53RT3
    Related
    ENSP00000315383.4, OTTHUMP00000205193, ENST00000320256.5, OTTHUMT00000334161
    Conserved Domains (1) summary
    cd00303
    Location:198290
    retropepsin_like; Retropepsins; pepsin-like aspartate proteases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    69960089..69962265 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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