• Gene id: 431705

Gene Summary

• Gene Symbol: ASTL   Gene   UCSC   Ensembl
• Aliases: SAS1B
• Gene name: astacin like metalloendopeptidase
• Alternate names: astacin-like metalloendopeptidase, astacin-like metallo-endopeptidase (M12 family), astacin-like metalloendopeptidase (M12 family), oocyte astacin, ovastacin, sperm acrosomal SLLP1 binding,
• Gene location: 2q11.2 (96143058: 96122816)     Exons: 10     NC_000002.12
• OMIM: 602285

Protein Summary

• Protein general information: Q6HA08  
  • Name: Astacin like metalloendopeptidase (EC 3.4. . ) (Oocyte astacin) (Ovastacin)
  • Length: 431  
  • Mass: 45936
  • 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. {ECO
• Sequence:

  MEGVGGLWPWVLGLLSLPGVILGAPLASSCAGACGTSFPDGLTPEGTQASGDKDIPAINQGLILEETPESSFLIE
  GDIIRPSPFRLLSATSNKWPMGGSGVVEVPFLLSSKYDEPSRQVILEALAEFERSTCIRFVTYQDQRDFISIIPM
  YGCFSSVGRSGGMQVVSLAPTCLQKGRGIVLHELMHVLGFWHEHTRADRDRYIRVNWNEILPGFEINFIKSQSSN
  MLTPYDYSSVMHYGRLAFSRRGLPTITPLWAPSVHIGQRWNLSASDITRVLKLYGCSPSGPRPRGRGSHAHSTGR
  SPAPASLSLQRLLEALSAESRSPDPSGSSAGGQPVPAGPGESPHGWESPALKKLSAEASARQPQTLASSPRSRPG
  AGAPGVAQEQSWLAGVSTKPTVPSSEAGIQPVPVQGSPALPGGCVPRNHFKGMSED

• Structural information:
  • Protein Domains: (85..28-)
    (/note="Peptidase-M12A)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01211"-)
  • Interpro: IPR024079  IPR001506  IPR006026  
  • Prosite: PS51864 PS00142
  • STRING: ENSP00000343674
• Other Databases: GeneCards:  ASTL  Malacards:  ASTL

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004222	metalloendopeptidase activity	IBA	molecular function
GO:0070001	aspartic-type peptidase activity	ISS	molecular function
GO:0010954	positive regulation of protein processing	ISS	biological process
GO:0009566	fertilization	ISS	biological process
GO:2000360	negative regulation of binding of sperm to zona pellucida	ISS	biological process
GO:0070002	glutamic-type peptidase activity	ISS	molecular function
GO:0060473	cortical granule	ISS	cellular component
GO:0060468	prevention of polyspermy	ISS	biological process
GO:0007155	cell adhesion	ISS	biological process
GO:0005886	plasma membrane	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0006508	proteolysis	IEA	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0004222	metalloendopeptidase activity	IEA	molecular function
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0007338	single fertilization	IEA	biological process
GO:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:0031410	cytoplasmic vesicle	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0009566	fertilization	IEA	biological process
GO:0010954	positive regulation of protein processing	IEA	biological process
GO:0070001	aspartic-type peptidase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0060468	prevention of polyspermy	IEA	biological process
GO:0060473	cortical granule	IEA	cellular component
GO:0070002	glutamic-type peptidase activity	IEA	molecular function
GO:2000360	negative regulation of binding of sperm to zona pellucida	IEA	biological process
GO:0030133	transport vesicle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq