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ASTL (Astacin Like Metalloendopeptidase) is a Protein Coding gene. Diseases associated with ASTL include Powassan Encephalitis and Louping Ill. Gene Ontology (GO) annotations related to this gene include peptidase activity and metallopeptidase activity. An important paralog of this gene is MEP1B.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004222 | metalloendopeptidase activity | IBA | 21873635 |
GO:0008233 | peptidase activity | IEA | -- |
GO:0008237 | metallopeptidase activity | IEA | -- |
GO:0008270 | zinc ion binding | IEA | -- |
GO:0016787 | hydrolase activity | IEA | -- |
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 | -- |
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 |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ASTL 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ASTL 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ASTL 30 |
|
||
Rat (Rattus norvegicus) |
Mammalia | Astl 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Astl 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ASTL 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ASTL 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Lizard (Anolis carolinensis) |
Reptilia | ASTL 31 |
|
OneToOne | |
Zebrafish (Danio rerio) |
Actinopterygii | he1a 31 |
|
OneToMany | |
he1b 31 |
|
OneToMany | |||
c6ast3 31 |
|
OneToMany | |||
ASTL (10 of 10) 31 |
|
OneToMany | |||
c6ast4 31 |
|
OneToMany | |||
ASTL (7 of 10) 31 |
|
OneToMany | |||
he2 31 |
|
OneToMany | |||
c6ast1 31 |
|
OneToMany | |||
npsn 31 |
|
OneToMany | |||
ASTL (8 of 10) 31 |
|
OneToMany | |||
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP006144 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG5715 30 31 |
|
OneToMany | |
CG6696 31 |
|
OneToMany | |||
CG10280 31 |
|
OneToMany | |||
CG6763 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | nas-1 31 |
|
OneToMany | |
nas-6 31 |
|
OneToMany | |||
Y19D10A.6 31 |
|
OneToMany | |||
nas-4 31 |
|
OneToMany | |||
nas-3 31 |
|
OneToMany | |||
nas-2 31 |
|
OneToMany | |||
nas-7 31 |
|
OneToMany | |||
nas-12 31 |
|
OneToMany | |||
nas-5 31 |
|
OneToMany | |||
nas-13 31 |
|
OneToMany | |||
nas-8 31 |
|
OneToMany | |||
nas-14 31 |
|
OneToMany | |||
nas-15 31 |
|
OneToMany | |||
nas-21 31 |
|
OneToMany | |||
nas-27 31 |
|
OneToMany | |||
nas-28 31 |
|
OneToMany | |||
nas-22 31 |
|
OneToMany | |||
nas-19 31 |
|
OneToMany | |||
toh-1 31 |
|
OneToMany | |||
nas-25 31 |
|
OneToMany | |||
nas-24 31 |
|
OneToMany | |||
nas-20 31 |
|
OneToMany | |||
dpy-31 31 |
|
OneToMany | |||
hch-1 31 |
|
OneToMany | |||
nas-17 31 |
|
OneToMany | |||
nas-29 31 |
|
OneToMany | |||
nas-30 31 |
|
OneToMany | |||
nas-36 31 |
|
OneToMany | |||
nas-33 31 |
|
OneToMany | |||
nas-16 31 |
|
OneToMany | |||
nas-9 31 |
|
OneToMany | |||
nas-23 31 |
|
OneToMany | |||
nas-37 31 |
|
OneToMany | |||
nas-10 31 |
|
OneToMany | |||
nas-18 31 |
|
OneToMany | |||
nas-38 31 |
|
OneToMany | |||
nas-31 31 |
|
OneToMany | |||
nas-11 31 |
|
OneToMany | |||
nas-32 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
708461 | Benign: not provided | 96,132,712(-) | C/T | SYNONYMOUS_VARIANT | |
780829 | Benign: not provided | 96,123,863(-) | AT/A | FRAMESHIFT_VARIANT | |
791863 | Benign: not provided | 96,129,826(-) | C/T | MISSENSE_VARIANT | |
rs1657502 | - | p.Lys277Gln | |||
rs41320144 | - | p.Arg204His |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
powassan encephalitis |
|
|
louping ill |
|
|
colorado tick fever |
|
|
omsk hemorrhagic fever |
|
|
leber plus disease |
|
|