Free for academic non-profit institutions. Other users need a Commercial license

Aliases for AMZ1 Gene

Aliases for AMZ1 Gene

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

External Ids for AMZ1 Gene

Previous GeneCards Identifiers for AMZ1 Gene

  • GC07P002493
  • GC07P002685

Summaries for AMZ1 Gene

GeneCards Summary for AMZ1 Gene

AMZ1 (Archaelysin Family Metallopeptidase 1) is a Protein Coding gene. GO annotations related to this gene include metallopeptidase activity. An important paralog of this gene is AMZ2.

UniProtKB/Swiss-Prot for AMZ1 Gene

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

No data available for Entrez Gene Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for AMZ1 Gene

Genomics for AMZ1 Gene

Regulatory Elements for AMZ1 Gene

Enhancers for AMZ1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F002693 1.2 FANTOM5 Ensembl 50.4 +14.6 14641 0.5 ATF1 CREB3L1 NFRKB SIN3A ZBTB40 ZNF766 FOS SP5 ZBTB11 ZHX2 AMZ1 LFNG GNA12 SNX8 GC07P002723
GH07F002708 1.2 FANTOM5 Ensembl ENCODE 24.3 +30.8 30806 2.9 HDGF PKNOX1 WRNIP1 ZFP64 SIN3A ZNF48 ZNF143 ZNF207 DEK PAF1 AMZ1 TTYH3 CARD11 GNA12 LFNG GC07P002723
GH07F002756 1.3 FANTOM5 ENCODE 18.8 +81.1 81072 8.7 HDGF PKNOX1 ARNT MLX CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 GNA12 CHST12 AMZ1 LFNG TTYH3 SNX8 GC07M002729 PIR32151
GH07F002686 0.2 ENCODE 14.3 +8.6 8634 2.6 PKNOX1 TBL1XR1 RAD21 RCOR1 ETV6 FOS CREM EGR2 CBFB REST AMZ1 GC07P002723
GH07F002701 0.7 ENCODE 13.7 +22.6 22631 0.6 AMZ1 TTYH3 GC07P002723
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around AMZ1 on UCSC Golden Path with GeneCards custom track

Genomic Location for AMZ1 Gene

Chromosome:
7
Start:
2,679,522 bp from pter
End:
2,775,500 bp from pter
Size:
95,979 bases
Orientation:
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:
    Q400G9-AMZ1_HUMAN
    Recommended name:
    Archaemetzincin-1
    Protein Accession:
    Q400G9
    Secondary Accessions:
    • B3KRS0
    • Q8TF51

    Protein attributes for AMZ1 Gene

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

    Alternative splice isoforms for AMZ1 Gene

    UniProtKB/Swiss-Prot:

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

Protein Domains for AMZ1 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q400G9

UniProtKB/Swiss-Prot:

AMZ1_HUMAN :
  • Belongs to the peptidase M54 family.
Family:
  • Belongs to the peptidase M54 family.
genes like me logo Genes that share domains with AMZ1: view

No data available for Gene Families for AMZ1 Gene

Function for AMZ1 Gene

Molecular function for AMZ1 Gene

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.
UniProtKB/Swiss-Prot Function:
Zinc metalloprotease. Exhibits aminopeptidase activity against neurogranin in vitro. Does not hydrolyze angiotensin-2.

Enzyme Numbers (IUBMB) 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:0008270 zinc ion binding IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with AMZ1: view

Phenotypes for AMZ1 Gene

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

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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

COMPARTMENTS
Jensen Localization Image for AMZ1 Gene COMPARTMENTS Subcellular localization image for AMZ1 gene
Compartment Confidence
cytosol 2
nucleus 2
peroxisome 1

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Gene Ontology (GO) - Cellular Components for AMZ1 Gene

Pathways & Interactions for AMZ1 Gene

SuperPathways for AMZ1 Gene

No Data Available

Interacting Proteins for AMZ1 Gene

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

Transcripts for AMZ1 Gene

mRNA/cDNA for AMZ1 Gene

Unigene Clusters for AMZ1 Gene

Archaelysin family metallopeptidase 1:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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
AMZ1
ECgene alternative splicing isoforms for
AMZ1

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

NURSA nuclear receptor signaling pathways regulating expression of AMZ1 Gene:

AMZ1

SOURCE GeneReport for Unigene cluster for AMZ1 Gene:

Hs.42221

mRNA Expression by UniProt/SwissProt for AMZ1 Gene:

Q400G9-AMZ1_HUMAN
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.
genes like me logo Genes that share expression patterns with AMZ1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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
chimpanzee
(Pan troglodytes)
Mammalia AMZ1 34 35
  • 98.8 (n)
dog
(Canis familiaris)
Mammalia AMZ1 34 35
  • 81.99 (n)
cow
(Bos Taurus)
Mammalia AMZ1 34 35
  • 81.6 (n)
mouse
(Mus musculus)
Mammalia Amz1 34 16 35
  • 78.07 (n)
rat
(Rattus norvegicus)
Mammalia Amz1 34
  • 77.33 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia AMZ1 35
  • 68 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia AMZ1 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves AMZ1 34 35
  • 69.9 (n)
lizard
(Anolis carolinensis)
Reptilia AMZ1 35
  • 64 (a)
OneToOne
Species where no ortholog for AMZ1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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

ENSEMBL:
Gene Tree for AMZ1 (if available)
TreeFam:
Gene Tree for AMZ1 (if available)

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 from dbSNP and Humsavar for AMZ1 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10215950 -- 2,754,508(+) gaggc(C/G)agggc intron-variant
rs10228264 -- 2,715,119(+) gacat(C/T)gggag intron-variant, utr-variant-3-prime
rs10229817 -- 2,710,394(+) TTCTT(C/T)AAACC intron-variant
rs10229834 -- 2,710,413(+) GACTA(A/C)AACCA intron-variant
rs10229934 -- 2,710,495(+) CCTCC(C/T)GCCCG intron-variant

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)

Relevant External Links for AMZ1 Gene

Human Gene Mutation Database (HGMD)
AMZ1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
AMZ1

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

Disorders for AMZ1 Gene

Relevant External Links for AMZ1

Genetic Association Database (GAD)
AMZ1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
AMZ1

No disorders were found for AMZ1 Gene.

No data available for MalaCards , 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) Diaz-Perales A. … Lopez-Otin C. (J. Biol. Chem. 2005) 2 3 4 22 64
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  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 Res. 2001) 3 4 64
  4. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. (PMID: 23563607) Berndt S.I. … Ingelsson E. (Nat. Genet. 2013) 3 64
  5. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson D.F. … Stefansson K. (Nat. Genet. 2008) 46 64

Products for AMZ1 Gene

Sources for AMZ1 Gene

Content
Loading form....