Aliases for ASTL Gene

Aliases for ASTL Gene

  • Astacin Like Metalloendopeptidase 2 3 5
  • Ovastacin 2 3 4
  • Astacin-Like Metallo-Endopeptidase (M12 Family) 2 3
  • Astacin-Like Metalloendopeptidase 3 4
  • Sperm Acrosomal SLLP1 Binding 2 3
  • Oocyte Astacin 3 4
  • SAS1B 2 3
  • Astacin-Like Metalloendopeptidase (M12 Family) 3
  • EC 3.4.-.- 4
  • ASTL 5

External Ids for ASTL Gene

Previous GeneCards Identifiers for ASTL Gene

  • GC00U914494
  • GC02M096211
  • GC02U900795
  • GC02M096153
  • GC02M096789
  • GC02M090750

Summaries for ASTL Gene

GeneCards Summary for ASTL Gene

ASTL (Astacin Like Metalloendopeptidase) is a Protein Coding gene. Diseases associated with ASTL include Powassan Encephalitis and Colorado Tick Fever. Gene Ontology (GO) annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is MEP1B.

UniProtKB/Swiss-Prot Summary for ASTL Gene

  • Oocyte-specific oolemmal receptor involved in sperm and egg adhesion and fertilization. Plays a role in the polyspermy inhibition. Probably acts as a protease for the post-fertilization cleavage of ZP2. Cleaves the sperm-binding ZP2 at the surface of the zona pellucida after fertilization and cortical granule exocytosis, rendering the zona pellucida unable to support further sperm binding (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASTL Gene

Genomics for ASTL Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASTL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J096141 Enhancer 0.4 ENCODE 250.7 +1.7 1692 0.1 ZKSCAN1 BACH1 POLR2A SMAD5 ASTL HSALNG0017018 HSALNG0017019 ADRA2B
GH02J096263 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 -122.8 -122787 4.1 CHD2 TBP ZBTB10 SIX5 NR2C1 MNT BRCA1 SMAD5 ETS1 ZFP64 CIAO1 HSALNG0017034 TMEM127 piR-32469 SNRNP200 KANSL3 ANKRD36 STARD7-AS1 CNNM3 STARD7
GH02J096255 Promoter/Enhancer 2.1 VISTA FANTOM5 Ensembl ENCODE dbSUPER 11.5 -116.2 -116214 7.2 CEBPA FOXA1 DEK IKZF1 HES1 ZNF217 CTCF SIX4 ZEB1 ELF1 CIAO1 SNRNP200 DUSP2 KANSL3 STARD7 STARD7-AS1 ASTL ITPRIPL1 CNNM3 ENSG00000230747
GH02J096304 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.3 -162.5 -162542 2.8 CHD2 TBP ZBTB10 BCL11A MXD4 CEBPA SIX5 NR2C1 MNT SMAD5 lnc-ITPRIPL1-2 SNRNP200 CIAO1 NCAPH ASTL DUSP2 lnc-TMEM127-2
GH02J096009 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 11.5 +132.5 132458 2.4 ZBTB10 MNT CTCF NBN TRIM22 GABPB1 KLF9 SP2 NKRF BHLHE40 FAHD2CP lnc-CIAO1-4 GPAT2 ADRA2B ASTL DUSP2 ENSG00000230747 ITPRIPL1 HSALNG0017006 ANKRD36C
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASTL on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASTL

Top Transcription factor binding sites by QIAGEN in the ASTL gene promoter:
  • AP-1
  • GR
  • GR-alpha
  • GR-beta
  • HEN1
  • HNF-4alpha1
  • p53
  • Pax-4a

Genomic Locations for ASTL Gene

Latest Assembly
chr2:96,122,817-96,143,059
(GRCh38/hg38)
Size:
20,243 bases
Orientation:
Minus strand

Previous Assembly
chr2:96,788,557-96,804,241
(GRCh37/hg19 by Entrez Gene)
Size:
15,685 bases
Orientation:
Minus strand

chr2:96,789,589-96,804,175
(GRCh37/hg19 by Ensembl)
Size:
14,587 bases
Orientation:
Minus strand

Genomic View for ASTL Gene

Genes around ASTL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASTL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASTL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASTL Gene

Proteins for ASTL Gene

  • Protein details for ASTL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6HA08-ASTL_HUMAN
    Recommended name:
    Astacin-like metalloendopeptidase
    Protein Accession:
    Q6HA08
    Secondary Accessions:
    • Q3KNT0

    Protein attributes for ASTL Gene

    Size:
    431 amino acids
    Molecular mass:
    45936 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Interacts (via N-terminal domain) with SPACA3; the interaction occurs during fertilization.

neXtProt entry for ASTL Gene

Post-translational modifications for ASTL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASTL Gene

No data available for DME Specific Peptides for ASTL Gene

Domains & Families for ASTL Gene

Gene Families for ASTL Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted secreted proteins

Protein Domains for ASTL Gene

InterPro:
Blocks:
  • Astacin family signature
ProtoNet:

Suggested Antigen Peptide Sequences for ASTL Gene

GenScript: Design optimal peptide antigens:
  • Ovastacin (ASTL_HUMAN)
  • ASTL protein (Q3B826_HUMAN)
genes like me logo Genes that share domains with ASTL: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ASTL Gene

Function for ASTL Gene

Molecular function for ASTL Gene

UniProtKB/Swiss-Prot Function:
Oocyte-specific oolemmal receptor involved in sperm and egg adhesion and fertilization. Plays a role in the polyspermy inhibition. Probably acts as a protease for the post-fertilization cleavage of ZP2. Cleaves the sperm-binding ZP2 at the surface of the zona pellucida after fertilization and cortical granule exocytosis, rendering the zona pellucida unable to support further sperm binding (By similarity).
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Note=Enzymatic activity was assayed using synthetic quenched fluorescent substrates QF-24, QF-35 and QF-41. Astacin displayed the highest Kcat/KM value against QF-35. {ECO:0000269|PubMed:15087446}; pH dependence: Optimum pH is 7.5. {ECO:0000269|PubMed:15087446};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by wide spectrum metalloproteinase inhibitor batimastat (BB-94). Also inhibited by EDTA.

Enzyme Numbers (IUBMB) for ASTL Gene

Phenotypes From GWAS Catalog for ASTL Gene

Gene Ontology (GO) - Molecular Function for ASTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IBA 21873635
GO:0005515 protein binding IPI 32296183
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0008270 zinc ion binding IEA --
genes like me logo Genes that share ontologies with ASTL: view
genes like me logo Genes that share phenotypes with ASTL: view

Animal Models for ASTL Gene

MGI Knock Outs for ASTL:

Animal Models for research

  • Taconic Biosciences Mouse Models for ASTL

miRNA for ASTL Gene

miRTarBase miRNAs that target ASTL

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASTL

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ASTL Gene

Localization for ASTL Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASTL Gene

Cytoplasm. Cell membrane. Cytoplasmic granule. Cytoplasmic vesicle, secretory vesicle. Note=Secretory granules. Localizes to the peripheral cortical granules of ovulated eggs. Probably exocytosed from cortical granules during post-fertilization. Detected throughout the ooplasm of germinal vesicle stage oocytes in early bilaminar secondary follicles shortly after birth. Detected in the microvillar domain of the oolemma in arrested ovulated secondary oocytes and in the first polar body prior to fertilization. Upon fertilization, detected in the perivitelline space (PVS). Colocalizes with SPACA3 at the microvillar domain of the oolemma and in the perivitelline space (PVS) (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASTL gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ASTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS 22206759
GO:0005886 plasma membrane ISS 22206759
GO:0016020 membrane IEA --
GO:0030133 transport vesicle IEA --
GO:0031410 cytoplasmic vesicle IEA --
genes like me logo Genes that share ontologies with ASTL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ASTL Gene

Pathways & Interactions for ASTL Gene

PathCards logo

SuperPathways for ASTL Gene

No Data Available

Gene Ontology (GO) - Biological Process for ASTL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0007155 cell adhesion IEA,ISS 22206759
GO:0007338 single fertilization IEA --
GO:0009566 fertilization IEA,ISS 22206759
GO:0010954 positive regulation of protein processing IEA,ISS 22472438
genes like me logo Genes that share ontologies with ASTL: view

No data available for Pathways by source and SIGNOR curated interactions for ASTL Gene

Drugs & Compounds for ASTL Gene

No Compound Related Data Available

Transcripts for ASTL Gene

mRNA/cDNA for ASTL Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASTL

Alternative Splicing Database (ASD) splice patterns (SP) for ASTL Gene

No ASD Table

Relevant External Links for ASTL Gene

GeneLoc Exon Structure for
ASTL

Expression for ASTL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASTL Gene

mRNA differential expression in normal tissues according to GTEx for ASTL Gene

This gene is overexpressed in Whole Blood (x7.0) and Bladder (x5.0).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASTL

SOURCE GeneReport for Unigene cluster for ASTL Gene:

Hs.447993

mRNA Expression by UniProt/SwissProt for ASTL Gene:

Q6HA08-ASTL_HUMAN
Tissue specificity: Expressed in promyelocytic leukemia HL-60 cells, Burkitt's lymphoma Raji cells, and also in some ovarian carcinomas. Not detected in normal tissues.
genes like me logo Genes that share expression patterns with ASTL: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for ASTL Gene

Orthologs for ASTL Gene

This gene was present in the common ancestor of animals.

Orthologs for ASTL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ASTL 30 31
  • 98.07 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ASTL 30 31
  • 80.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ASTL 30
  • 79.87 (n)
Rat
(Rattus norvegicus)
Mammalia Astl 30
  • 76.41 (n)
Mouse
(Mus musculus)
Mammalia Astl 30 17 31
  • 75.22 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ASTL 31
  • 62 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ASTL 31
  • 27 (a)
OneToMany
-- 31
  • 25 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia ASTL 31
  • 71 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii he1a 31
  • 41 (a)
OneToMany
he1b 31
  • 40 (a)
OneToMany
c6ast3 31
  • 37 (a)
OneToMany
ASTL (10 of 10) 31
  • 36 (a)
OneToMany
c6ast4 31
  • 35 (a)
OneToMany
ASTL (7 of 10) 31
  • 35 (a)
OneToMany
he2 31
  • 35 (a)
OneToMany
c6ast1 31
  • 33 (a)
OneToMany
npsn 31
  • 31 (a)
OneToMany
ASTL (8 of 10) 31
  • 28 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006144 30
  • 51.26 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5715 30 31
  • 49.59 (n)
OneToMany
CG6696 31
  • 29 (a)
OneToMany
CG10280 31
  • 28 (a)
OneToMany
CG6763 31
  • 27 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea nas-1 31
  • 30 (a)
OneToMany
nas-6 31
  • 27 (a)
OneToMany
Y19D10A.6 31
  • 25 (a)
OneToMany
nas-4 31
  • 25 (a)
OneToMany
nas-3 31
  • 25 (a)
OneToMany
nas-2 31
  • 24 (a)
OneToMany
nas-7 31
  • 24 (a)
OneToMany
nas-12 31
  • 23 (a)
OneToMany
nas-5 31
  • 23 (a)
OneToMany
nas-13 31
  • 23 (a)
OneToMany
nas-8 31
  • 21 (a)
OneToMany
nas-14 31
  • 21 (a)
OneToMany
nas-15 31
  • 18 (a)
OneToMany
nas-21 31
  • 17 (a)
OneToMany
nas-27 31
  • 17 (a)
OneToMany
nas-28 31
  • 17 (a)
OneToMany
nas-22 31
  • 16 (a)
OneToMany
nas-19 31
  • 16 (a)
OneToMany
toh-1 31
  • 16 (a)
OneToMany
nas-25 31
  • 15 (a)
OneToMany
nas-24 31
  • 15 (a)
OneToMany
nas-20 31
  • 15 (a)
OneToMany
dpy-31 31
  • 15 (a)
OneToMany
hch-1 31
  • 14 (a)
OneToMany
nas-17 31
  • 14 (a)
OneToMany
nas-29 31
  • 14 (a)
OneToMany
nas-30 31
  • 13 (a)
OneToMany
nas-36 31
  • 13 (a)
OneToMany
nas-33 31
  • 13 (a)
OneToMany
nas-16 31
  • 13 (a)
OneToMany
nas-9 31
  • 13 (a)
OneToMany
nas-23 31
  • 13 (a)
OneToMany
nas-37 31
  • 12 (a)
OneToMany
nas-10 31
  • 12 (a)
OneToMany
nas-18 31
  • 12 (a)
OneToMany
nas-38 31
  • 11 (a)
OneToMany
nas-31 31
  • 11 (a)
OneToMany
nas-11 31
  • 11 (a)
OneToMany
nas-32 31
  • 11 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 24 (a)
OneToOne
Species where no ortholog for ASTL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ASTL Gene

ENSEMBL:
Gene Tree for ASTL (if available)
TreeFam:
Gene Tree for ASTL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASTL: view image

Paralogs for ASTL Gene

Variants for ASTL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASTL Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
rs11292169 Benign: not provided 96,123,863(-) AT/A
NM_001002036.3(ASTL):c.1282del (p.Met428fs)
FRAMESHIFT
rs149434198 Benign: not provided 96,129,826(-) C/T
NM_001002036.3(ASTL):c.872G>A (p.Arg291Lys)
MISSENSE
rs78275861 Benign: not provided 96,132,712(-) C/T
NM_001002036.3(ASTL):c.465G>A (p.Ser155=)
SYNONYMOUS
rs1657502 - p.Lys277Gln
rs41320144 - p.Arg204His

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASTL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ASTL Gene

Variant ID Type Subtype PubMed ID
dgv4009n100 CNV gain 25217958
dgv607e201 CNV deletion 23290073
esv2720410 CNV deletion 23290073
esv3425717 CNV duplication 20981092
esv3591652 OTHER inversion 21293372
esv5003 OTHER complex 18987735
nsv1135873 CNV deletion 24896259

Variation tolerance for ASTL Gene

Residual Variation Intolerance Score: 86.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.11; 87.72% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASTL Gene

Human Gene Mutation Database (HGMD)
ASTL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASTL

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASTL Gene

Disorders for ASTL Gene

MalaCards: The human disease database

(5) MalaCards diseases for ASTL Gene - From: COP

Disorder Aliases PubMed IDs
powassan encephalitis
  • powassan encephalitis virus infection
colorado tick fever
  • tick fever, american mountain
louping ill
omsk hemorrhagic fever
  • ohf
leber plus disease
  • lhon plus disease
- elite association - COSMIC cancer census association via MalaCards
Search ASTL in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ASTL

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ASTL: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ASTL Gene

Publications for ASTL Gene

  1. Identification and characterization of human and mouse ovastacin: a novel metalloproteinase similar to hatching enzymes from arthropods, birds, amphibians, and fish. (PMID: 15087446) Quesada V … López-Otín C (The Journal of biological chemistry 2004) 2 4 23
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. Spindle Assembly Checkpoint Inhibition Can Resensitize p53-Null Stem Cells to Cancer Chemotherapy. (PMID: 30862715) Liu C … Buckhaults PJ (Cancer research 2019) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for ASTL Gene

Sources for ASTL Gene