ASTL astacin like metalloendopeptidase [Homo sapiens (human)] - Gene

Summary

Official Symbol: ASTLprovided by HGNC
Official Full Name: astacin like metalloendopeptidaseprovided by HGNC
Primary source: HGNC:HGNC:31704
See related: Ensembl:ENSG00000188886 MIM:608860; AllianceGenome:HGNC:31704
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: SAS1B; OOMD11; OZEMA11
Summary: Predicted to enable aspartic-type peptidase activity; glutamic-type peptidase activity; and metalloendopeptidase activity. Predicted to be involved in several processes, including negative regulation of binding activity of sperm to zona pellucida; positive regulation of protein processing; and prevention of polyspermy. Predicted to be located in cortical granule and plasma membrane. [provided by Alliance of Genome Resources, Nov 2024]
Expression: Biased expression in bone marrow (RPKM 1.1), skin (RPKM 0.2) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q11.2

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (96122818..96138564, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (96629422..96645168, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (96788557..96804241, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ASTL is mutated in female infertility.
Title: ASTL is mutated in female infertility.
The detection of SAS1B in serum provides clues for early diagnosis of thyroid cancer.
Title: The detection of SAS1B in serum provides clues for early diagnosis of thyroid cancer.
The SAS1B metalloproteinase is proposed as a prototype cancer-oocyte tumor surface neoantigen for development of targeted immunotherapeutics with limited on-target/off tumor effects predicted to be restricted to the population of growing oocytes.
Title: Membrane associated cancer-oocyte neoantigen SAS1B/ovastacin is a candidate immunotherapeutic target for uterine tumors.
SAS1B protein [ovastacin] shows temporal and spatial restriction to oocytes in several eutherian orders and initiates translation at the primary to secondary follicle transition.
Title: SAS1B protein [ovastacin] shows temporal and spatial restriction to oocytes in several eutherian orders and initiates translation at the primary to secondary follicle transition.
Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Observational study of gene-disease association. (HuGE Navigator)
Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

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Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Oocyte maturation defect 11 MedGen: C5562033 OMIM: 619643 GeneReviews: Not available	not available

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables aspartic-type peptidase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables glutamic-type peptidase activity	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables metalloendopeptidase activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables zinc ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cell adhesion	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in fertilization	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of binding of sperm to zona pellucida	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of protein processing	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in prevention of polyspermy	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in proteolysis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cortical granule	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info	PubMed

General protein information

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Preferred Names: astacin-like metalloendopeptidase

Names: ZP2-proteinase; astacin-like metallo-endopeptidase (M12 family); astacin-like metalloendopeptidase (M12 family); oocyte astacin; ovastacin; sperm acrosomal SLLP1 binding

NP_001002036.3

EC 3.4.24.21

XP_011509507.1

EC 3.4.24.21

XP_011509509.1

EC 3.4.24.21

XP_011509510.1

EC 3.4.24.21

XP_054198100.1

EC 3.4.24.21

XP_054198101.1

EC 3.4.24.21

XP_054198102.1

EC 3.4.24.21

NCBI Reference Sequences (RefSeq)

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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.

mRNA and Protein(s)

NM_001002036.4 → NP_001002036.3 astacin-like metalloendopeptidase precursor

See identical proteins and their annotated locations for NP_001002036.3

Status: VALIDATED

Source sequence(s)

AC012307

Consensus CDS

CCDS33249.1

UniProtKB/Swiss-Prot

Q3KNT0, Q6HA08

UniProtKB/TrEMBL

Q3B826

Related

ENSP00000343674.2, ENST00000342380.3

Conserved Domains (2) summary

pfam01400
Location:92 → 283

Astacin; Astacin (Peptidase family M12A)

cl00064
Location:100 → 281

ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

96122818..96138564 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011511208.3 → XP_011509510.1 astacin-like metalloendopeptidase isoform X3

Conserved Domains (2) summary

smart00235
Location:96 → 239

ZnMc; Zinc-dependent metalloprotease

cl00064
Location:105 → 245

ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...
XM_011511207.3 → XP_011509509.1 astacin-like metalloendopeptidase isoform X2

UniProtKB/TrEMBL

Q3B826

Conserved Domains (2) summary

pfam01400
Location:97 → 270

Astacin; Astacin (Peptidase family M12A)

cl00064
Location:105 → 268

ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...
XM_011511205.3 → XP_011509507.1 astacin-like metalloendopeptidase isoform X1

UniProtKB/TrEMBL

Q3B826

Conserved Domains (2) summary

pfam01400
Location:97 → 288

Astacin; Astacin (Peptidase family M12A)

cl00064
Location:105 → 286

ZnMc; Zinc-dependent metalloprotease. This super-family of metalloproteases contains two major branches, the astacin-like proteases and the adamalysin/reprolysin-like proteases. Both branches have wide phylogenetic distribution, and contain sub-families, which ...