ASPRV1 Gene
protein-coding GIFtS: 44
GCID: GC02M070187
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|
aspartic peptidase, retroviral-like 1
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Aliases
for ASPRV1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| Aspartic Peptidase, Retroviral-Like 11 2 | | TPA-Inducible Aspartic Proteinase-Like Protein2 3 | | SASPase1 2 3 | | MUNO2 5 | | SASP2 3 5 | | TAPS3 5 | | Taps1 2 | | FLJ250841 | | Skin Aspartic Protease2 3 | | Retroviral-Like Aspartic Protease 12 | | Skin-Specific Retroviral-Like Aspartic Protease2 3 | | EC 3.4.23.-3 |
Export aliases for ASPRV1 gene to outside databasesPrevious GC identifers: GC02M070041 GC02M069923 |
Summaries
for ASPRV1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for ASPRV1 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000002.11 NC_018913.1 NT_022184.15
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the ASPRV1 gene promoter:
Max1 AML1a MAZR NCX/Ncx Pax-2 Pax-2a LCR-F1 ATF6 c-Myc
Other transcription factors
Search SABiosciences Chromatin IP Primers for ASPRV1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASPRV1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 2p13.3 Ensembl cytogenetic band: 2p13.3 HGNC cytogenetic band: 2p13.3ASPRV1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 2 GeneLoc Exon Structure GeneLoc location for GC02M070187: view genomic region
(about GC identifiers)
Start:
|
70,187,221 bp from pter |
End:
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70,189,397 bp from pter |
Size:
|
2,177 bases |
Orientation:
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minus strand |
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Proteins
for ASPRV1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: APRV1_HUMAN, Q53RT3 (See
protein sequence)Recommended Name: Retroviral-like aspartic protease 1 precursor Size: 343 amino acids; 36991 Da
Subunit: Homodimer (Potential)
Subcellular location: Membrane; Single-pass membrane protein (Potential)
Sequence caution: Sequence=BAB71587.1; Type=Erroneous initiation;
Secondary accessions: Q8N5P2 Q96LT3 Q96N43Explore the universe of human proteins at neXtProt for ASPRV1: NX_Q53RT3
Post-translational modifications:
Undergoes autocleavage which is necessary for activation of the protein1
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q53RT3
ASPRV1 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_690005.2
ENSEMBL proteins: ENSP00000315383
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table
ASPRV1 for ontologies About GeneDecksing
ASPRV1 Antibody Products:
Assay Products for ASPRV1: |
Protein
Domains /
Families
for ASPRV1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ASPRV1 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q53RT3ProtoNet protein and cluster: Q53RT3 UniProtKB/Swiss-Prot: APRV1_HUMAN, Q53RT3Similarity: Contains 1 peptidase A2 domain |
Function
for ASPRV1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Enzyme Number (IUBMB): EC 3.4.23.-1
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASPRV1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ASPRV1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
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| |  | GenScript: all cDNA clones in your preferred vector: ASPRV1 (NM_152792) | |  | Browse Sino Biological Human cDNA Clones | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ASPRV1 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPRV1 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPRV1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0004190 | aspartic-type endopeptidase activity |
IDA | 16098038 |
ASPRV1 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Asprv1tm1Tmts for ASPRV1
1 MGI mutant phenotype (inferred from 1 allele ) (MGI details for Asprv1):
ASPRV1 for phenotypes About GeneDecksing
|
Pathways & Interactions
for ASPRV1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ASPRV1
STRING Interaction
Network Preview (showing 2 interactants - click image to see more details)
3 Interacting proteins for ASPRV1 (Q53RT33 ENSP000003153834) via UniProtKB, MINT, STRING, and/or I2DAbout this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table
ASPRV1 for ontologies About GeneDecksing
|
Drugs & Compounds
for ASPRV1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ASPRV1
Search CenterWatch for drugs/clinical trials and news about ASPRV1 / APRV1
|
Transcripts
for ASPRV1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for ASPRV1 gene: NM_152792.2 Unigene Cluster for ASPRV1: Aspartic peptidase, retroviral-like 1 Hs.516253 [show with all ESTs]Unigene Representative Sequence: NM_1527921 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000320256(uc002sfz.4)
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASPRV1 (see all 2)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ASPRV1 (see all 2)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector: ASPRV1 (NM_152792) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ASPRV1 | | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPRV1 |
Additional cDNA sequence: AK055994.1 AK057813.1 BC031997.1 BC094000.1 BC094002.1 2 DOTS entries: DT.210143 DT.97839726 24/39 AceView cDNA sequences (see all 39): BG681935 AI147482 BG741402 BQ023179 BG680516 BC031997 BM987523 BG681065 BQ024140 AK057813 H87957 BG678023 BG678921 NM_152792 AK055994 BQ025158 AI016891 AI338940 BE395367 BF110475 BU754249 BG698741 BG679726 BQ025529
GeneLoc Exon Structure
|
Expression
for ASPRV1 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ASPRV1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CACCCTGAAA
About this image
See ASPRV1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ASPRV1
SOURCE GeneReport for Unigene cluster: Hs.516253
UniProtKB/Swiss-Prot: APRV1_HUMAN, Q53RT3Tissue specificity: Expressed primarily in the granular layer of the epidermis and inner root sheath of hair follicles.In psoriatic skin, expressed throughout the stratum corneum. In ulcerated skin, expressed in the stratum granulosum ofintact epidermis but almost absent from ulcerated regions. Expressed in differentiated areas of squamous cellcarcinomas but not in undifferentiated tumors
SABiosciences Custom PCR Arrays for ASPRV1
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ASPRV1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ASPRV1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASPRV1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASPRV1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPRV1 |
Orthologs
for ASPRV1 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
|
This gene was present in the common ancestor of human and mouse.
Orthologs for ASPRV1 gene from 1/4 species (see all 4) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
mouse
(Mus musculus) |
Mammalia |
Asprv11 , 5 |
aspartic peptidase, retroviral-like 11, 5 |
75.23(n)1
74.92(a)1 |
|
6 (37.75 cM)5
678551 NM_026414.21 NP_080690.21
866281745 |
ENSEMBL Gene Tree for ASPRV1 (if available)
TreeFam Gene Tree for ASPRV1 (if available) |
Paralogs
for ASPRV1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for ASPRV1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 2 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ASPRV1 (70187221 - 70189397 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for ASPRV1: --
Human Gene Mutation Database (HGMD): ASPRV1
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ASPRV1 |
|
Disorders
/ Diseases
for ASPRV1 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ASPRV1 for disorders About GeneDecksing
OMIM gene information: 611765
OMIM disorders: --
16  diseases for ASPRV1: About MalaCardstwin-to-twin transfusion syndrome twin twin transfusion syndrome subdural empyema legionellosis
prosopagnosia twinning endophthalmitis vestibular neuronitis
oligohydramnios polyhydramnios squamous cell carcinoma polycythemia
meningitis hepatocellular carcinoma carcinoma neuronitis
Export disorders for ASPRV1 gene to outside databases
|
Publications
for ASPRV1 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for ASPRV1 gene, integrated from 9 sources (see all 11):
(articles sorted by number of sources associating them with ASPRV1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification and characterization of a novel retroviral-like aspartic protease specifically expressed in human epidermis. (PubMed id 16098038)1, 2, 3, 9 Bernard D....Schmidt R. (2005)
- A novel aspartic proteinase-like gene expressed in stratified epithelia and squamous cell carcinoma of the skin. (PubMed id 16565508)1, 2, 3 Rhiemeier V....Angel P. (2006)
- Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
- The interaction between ubiquitin C-terminal hydrolas e 37 and glucose-regulated protein 78 in hepatocellular carcinoma. (PubMed id 21800051)1 Fang Y....Shen X. (2012)
- Mutations in the SASPase gene (ASPRV1) are not associa ted with atopic eczema or clinically dry skin. (PubMed id 22318384)1 Sandilands A....Matsui T. (2012)
- SASPase regulates stratum corneum hydration through p rofilaggrin-to-filaggrin processing. (PubMed id 21542132)1 Matsui T....Amagai M. (2011)
- Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)1 Bennett E.J....Harper J.W. (2010)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for ASPRV1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing ASPRV1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing ASPRV1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing ASPRV1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for ASPRV1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for ASPRV1 gene:
Search GeneIP for patents involving ASPRV1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for ASPRV1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 | |
 |
| | |  | Browse OriGene Antibodies | | OriGene shRNA RFP for ASPRV1 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ASPRV1 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ASPRV1 | | | OriGene Protein Over-expression Lysate for ASPRV1 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for ASPRV1 | | OriGene 3'-UTR Clone for ASPRV1 | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ASPRV1 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASPRV1 | | | Browse OriGene GFP tagged cDNA clones in CMV expression vector | | Browse OriGene MicroRNA Expression Plasmids | | | Browse OriGene basic RS shRNAs | | Browse OriGene validated miRNA SYBR primer pairs | | | Browse OriGene full length recombinant human proteins expressed in human HEK293 cells | | OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
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| | | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat ASPRV1 | | | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ASPRV1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ASPRV1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASPRV1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASPRV1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASPRV1 |
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 | | | ASPRV1 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPRV1 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPRV1 |
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