Aliases for AMZ1 Gene

Aliases for AMZ1 Gene

  • Archaelysin Family Metallopeptidase 1 2 3 5
  • Archaemetzincin-1 2 3 4
  • Archeobacterial Metalloproteinase-Like Protein 1 3 4
  • KIAA1950 2 4
  • Metalloproteinase-Like Protein 3
  • EC 3.4.-.- 4
  • AMZ1 5

External Ids for AMZ1 Gene

Previous GeneCards Identifiers for AMZ1 Gene

  • GC07P002493
  • GC07P002685
  • GC07P002719

Summaries for AMZ1 Gene

GeneCards Summary for AMZ1 Gene

AMZ1 (Archaelysin Family Metallopeptidase 1) is a Protein Coding gene. Diseases associated with AMZ1 include Congenital Toxoplasmosis. Gene Ontology (GO) annotations related to this gene include metallopeptidase activity. An important paralog of this gene is AMZ2.

UniProtKB/Swiss-Prot Summary for AMZ1 Gene

  • Zinc metalloprotease. Exhibits aminopeptidase activity against neurogranin in vitro. Does not hydrolyze angiotensin-2.

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for AMZ1 Gene

Genomics for AMZ1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for AMZ1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07J002701 Promoter/Enhancer 1.1 EPDnew Ensembl ENCODE dbSUPER 613.7 +22.5 22508 0.9 HNF4A RXRA SP1 AMZ1 HSALNG0055746 TTYH3 lnc-TTYH3-2 MN298114-224 GNA12
GH07J002680 Enhancer 0.9 ENCODE dbSUPER 600.7 +1.6 1550 0.2 CTCF FOXA1 ZNF776 REST RAD21 ZNF792 SMARCA5 ZBTB26 ZKSCAN8 ZNF444 AMZ1 BRAT1 piR-32287-086 MN298114-224 GNA12
GH07J002681 Promoter 0.4 Ensembl 600.7 +0.7 678 0.4 ZIC2 AMZ1 piR-32287-086 MN298114-224 GNA12
GH07J002658 Promoter 0.4 EPDnew 600.4 -20.6 -20590 0.1 ZIC2 AMZ1 piR-43602 piR-32287-085 TTYH3
GH07J002693 Enhancer 0.8 FANTOM5 50.5 +14.6 14579 0.4 JUND PKNOX1 SP1 CEBPA MGA CTBP1 FOXA2 CEBPB NFRKB NR2C2 AMZ1 LFNG GNA12 SNX8 lnc-GNA12-3 HSALNG0055746 MN298114-224
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around AMZ1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for AMZ1

Top Transcription factor binding sites by QIAGEN in the AMZ1 gene promoter:
  • AML1a
  • COUP
  • COUP-TF1
  • CP2
  • GATA-3
  • POU2F1
  • POU2F1a

Genomic Locations for AMZ1 Gene

Genomic Locations for AMZ1 Gene
95,979 bases
Plus strand
95,979 bases
Plus strand

Genomic View for AMZ1 Gene

Genes around AMZ1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
AMZ1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for AMZ1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for AMZ1 Gene

Proteins for AMZ1 Gene

  • Protein details for AMZ1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B3KRS0
    • Q8TF51

    Protein attributes for AMZ1 Gene

    498 amino acids
    Molecular mass:
    54924 Da
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    No Data Available
    • Sequence=BAB85536.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for AMZ1 Gene


neXtProt entry for AMZ1 Gene

Post-translational modifications for AMZ1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for AMZ1 Gene

Domains & Families for AMZ1 Gene

Gene Families for AMZ1 Gene

Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for AMZ1 Gene

Suggested Antigen Peptide Sequences for AMZ1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ76739, highly similar to Homo sapiens archaemetzincin-1 (AMZ1), mRNA (A4D202_HUMAN)
  • Archeobacterial metalloproteinase-like protein 1 (AMZ1_HUMAN)
  • cDNA FLJ34788 fis, clone NT2NE2004787, highly similar to Archaemetzincin-1 (EC 3.-.-.-) (B3KRS0_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase M54 family.
  • Belongs to the peptidase M54 family.
genes like me logo Genes that share domains with AMZ1: view

Function for AMZ1 Gene

Molecular function for AMZ1 Gene

UniProtKB/Swiss-Prot Function:
Zinc metalloprotease. Exhibits aminopeptidase activity against neurogranin in vitro. Does not hydrolyze angiotensin-2.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
pH dependence: Optimum pH is 8.0. {ECO:0000269|PubMed:15972818};
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by the general metalloprotease inhibitors o-phenanthroline and batimastat. Also significantly inhibited by amastatin, which is an inhibitor of aminopeptidases. Not inhibited by 4-(2-aminoethyl)-benzenesulfonyl fluoride, E-64, and TIMPS (tissue inhibitors of metalloproteinases), which are inhibitors of serine, cysteine, and matrix metalloproteases, respectively.

Enzyme Numbers (IUBMB) for AMZ1 Gene

Phenotypes From GWAS Catalog for AMZ1 Gene

Gene Ontology (GO) - Molecular Function for AMZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AMZ1: view
genes like me logo Genes that share phenotypes with AMZ1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMZ1

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for AMZ1 Gene

Localization for AMZ1 Gene

Subcellular locations from

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 AMZ1 gene
Compartment Confidence
nucleus 2
cytosol 2
peroxisome 0

Gene Ontology (GO) - Cellular Components for AMZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with AMZ1: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for AMZ1 Gene

Pathways & Interactions for AMZ1 Gene

PathCards logo

SuperPathways for AMZ1 Gene

No Data Available

Gene Ontology (GO) - Biological Process for AMZ1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with AMZ1: view

No data available for Pathways by source and SIGNOR curated interactions for AMZ1 Gene

Drugs & Compounds for AMZ1 Gene

No Compound Related Data Available

Transcripts for AMZ1 Gene

mRNA/cDNA for AMZ1 Gene

9 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for AMZ1

Alternative Splicing Database (ASD) splice patterns (SP) for AMZ1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
SP1: - -
SP2: - -
SP3: -

Relevant External Links for AMZ1 Gene

GeneLoc Exon Structure for

Expression for AMZ1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for AMZ1 Gene

mRNA differential expression in normal tissues according to GTEx for AMZ1 Gene

This gene is overexpressed in Brain - Amygdala (x5.3), Brain - Nucleus accumbens (basal ganglia) (x4.6), and Brain - Putamen (basal ganglia) (x4.3).

Protein differential expression in normal tissues from HIPED for AMZ1 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for AMZ1 Gene

Protein tissue co-expression partners for AMZ1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for AMZ1

SOURCE GeneReport for Unigene cluster for AMZ1 Gene:


mRNA Expression by UniProt/SwissProt for AMZ1 Gene:

Tissue specificity: Predominantly expressed in heart and liver. Also expressed at lower level in kidney, pancreas and testis. Expressed in fetal tissues such as kidney, liver, lung and brain.

Evidence on tissue expression from TISSUES for AMZ1 Gene

  • Nervous system(4.2)
genes like me logo Genes that share expression patterns with AMZ1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for AMZ1 Gene

Orthologs for AMZ1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for AMZ1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia AMZ1 30 31
  • 98.8 (n)
(Canis familiaris)
Mammalia AMZ1 30 31
  • 81.99 (n)
(Bos Taurus)
Mammalia AMZ1 30 31
  • 81.6 (n)
(Mus musculus)
Mammalia Amz1 30 17 31
  • 78.07 (n)
(Rattus norvegicus)
Mammalia Amz1 30
  • 77.33 (n)
(Ornithorhynchus anatinus)
Mammalia AMZ1 31
  • 68 (a)
(Monodelphis domestica)
Mammalia AMZ1 31
  • 67 (a)
(Gallus gallus)
Aves AMZ1 30 31
  • 69.9 (n)
(Anolis carolinensis)
Reptilia AMZ1 31
  • 64 (a)
Species where no ortholog for AMZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Fruit Fly (Drosophila melanogaster)
  • 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)
  • 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 Squirt (Ciona savignyi)
  • 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)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for AMZ1 Gene

Gene Tree for AMZ1 (if available)
Gene Tree for AMZ1 (if available)
Evolutionary constrained regions (ECRs) for AMZ1: view image

Paralogs for AMZ1 Gene

Paralogs for AMZ1 Gene

(2) SIMAP similar genes for AMZ1 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with AMZ1: view

Variants for AMZ1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for AMZ1 Gene

SNP ID Clinical significance and condition Chr 07 pos Variation AA Info Type
709085 Benign: not provided 2,709,210(+) G/C MISSENSE_VARIANT,INTRON_VARIANT
716143 Benign: not provided 2,712,419(+) C/T NONSENSE,SYNONYMOUS_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for AMZ1 Gene

Structural Variations from Database of Genomic Variants (DGV) for AMZ1 Gene

Variant ID Type Subtype PubMed ID
dgv11144n54 CNV loss 21841781
dgv401n21 CNV loss 19592680
esv2670827 CNV deletion 23128226
esv3541051 CNV deletion 23714750
esv3571562 CNV loss 25503493
esv3611847 CNV loss 21293372
esv3611848 CNV gain 21293372
esv3611849 CNV loss 21293372
esv3611850 CNV loss 21293372
esv3611851 CNV loss 21293372
nsv1117691 CNV deletion 24896259
nsv1124161 CNV deletion 24896259
nsv464257 CNV loss 19166990
nsv464258 CNV loss 19166990
nsv471227 CNV loss 18288195
nsv605871 CNV loss 21841781
nsv950793 CNV deletion 24416366
nsv966745 CNV duplication 23825009

Variation tolerance for AMZ1 Gene

Residual Variation Intolerance Score: 99.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.44; 85.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for AMZ1 Gene

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

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for AMZ1 Gene

Disorders for AMZ1 Gene

MalaCards: The human disease database

(1) MalaCards diseases for AMZ1 Gene - From: DISEASES

Disorder Aliases PubMed IDs
congenital toxoplasmosis
  • toxoplasmosis - congen.
- elite association - COSMIC cancer census association via MalaCards
Search AMZ1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for AMZ1

genes like me logo Genes that share disorders with AMZ1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for AMZ1 Gene

Publications for AMZ1 Gene

  1. Identification and characterization of human archaemetzincin-1 and -2, two novel members of a family of metalloproteases widely distributed in Archaea. (PMID: 15972818) Díaz-Perales A … López-Otín C (The Journal of biological chemistry 2005) 2 4 23
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  3. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PMID: 11853319) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 2001) 3 4
  4. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for AMZ1 Gene

Sources for AMZ1 Gene