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AMZ1 Gene

protein-coding   GIFtS: 45
GCID: GC07P002719

Archaelysin Family Metallopeptidase 1

  Search for AMZ1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Archaelysin Family Metallopeptidase 11 2
archaemetzincin-11 2
Archeobacterial Metalloproteinase-Like Protein 12 3
KIAA19503 5
Metalloproteinase-Like Protein2
EC 3.4.-.-3

External Ids:    HGNC: 222311   Entrez Gene: 1551852   Ensembl: ENSG000001749457   OMIM: 6151685   UniProtKB: Q400G93   

Export aliases for AMZ1 gene to outside databases

Previous GC identifers: GC07P002493 GC07P002685


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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: AMZ1_HUMAN, Q400G9
Function: Zinc metalloprotease. Exhibits aminopeptidase activity against neurogranin in vitro. Does not hydrolyze
angiotensin-2




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007819.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the AMZ1 gene promoter:
         COUP-TF1   COUP-TF   CP2   AML1a   GATA-3   POU2F1   POU2F1a   COUP   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): AMZ1 promoter sequence
   Search Chromatin IP Primers for AMZ1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat AMZ1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7p22.3   Ensembl cytogenetic band:  7p22.3   HGNC cytogenetic band: 7p22.3

AMZ1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
AMZ1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P002719:  view genomic region     (about GC identifiers)

Start:
2,719,156 bp from pter      End:
2,815,134 bp from pter
Size:
95,979 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 2,767,050-2,802,975     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: AMZ1_HUMAN, Q400G9 (See protein sequence)
Recommended Name: Archaemetzincin-1  
Size: 498 amino acids; 54924 Da
Cofactor: Binds 2 zinc ions per subunit. One is catalytic, whereas the other seems to have a structural role (By
similarity)
Sequence caution: Sequence=BAB85536.1; Type=Erroneous initiation;
Secondary accessions: Q8TF51

Explore the universe of human proteins at neXtProt for AMZ1: NX_Q400G9

Explore proteomics data for AMZ1 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See AMZ1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001271284.1  NP_597720.1  

    ENSEMBL proteins: 
     ENSP00000308149   ENSP00000386020  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR012962 Pept_M54_archaemetzincn

    Graphical View of Domain Structure for InterPro Entry Q400G9

    ProtoNet protein and cluster: Q400G9

    UniProtKB/Swiss-Prot: AMZ1_HUMAN, Q400G9
    Similarity: Belongs to the peptidase M54 family


    AMZ1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: AMZ1_HUMAN, Q400G9
    Function: Zinc metalloprotease. Exhibits aminopeptidase activity against neurogranin in vitro. Does not hydrolyze
    angiotensin-2
    Enzyme regulation: 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
    Biophysicochemical properties: pH dependence: Optimum pH is 8.0;

         Enzyme Number (IUBMB): EC 3.4.-.-1

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008237metallopeptidase activity IEA--
    GO:0008270zinc ion binding IEA--
         
    AMZ1 for ontologies           About GeneDecksing


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    1 qRT-PCR Assays for microRNA that regulate AMZ1:
    hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidAMZ1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    nucleus2
    peroxisome1

    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for AMZ1
    Interactions:

        Search GeneGlobe Interaction Network for AMZ1

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006508proteolysis ----

    AMZ1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Tocris compounds for AMZ1



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for AMZ1 gene (2 alternative transcripts): 
    NM_001284355.1  NM_133463.2  

    Unigene Cluster for AMZ1:

    Archaelysin family metallopeptidase 1
    Hs.42221  [show with all ESTs]
    Unigene Representative Sequence: BC146753
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000312371(uc003smr.1 uc003sms.1 uc011jwa.1) ENST00000407112
    ENST00000485540 ENST00000480560 ENST00000489665 ENST00000433945
    miRNA
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    1 qRT-PCR Assays for microRNA that regulate AMZ1:
    hsa-miR-298
    SwitchGear 3'UTR luciferase reporter plasmidAMZ1 3' UTR sequence
    Inhib. RNA
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      QuantiFast Probe-based Assays in human, mouse, rat AMZ1

    Additional mRNA sequence: 

    AB075830.1 AJ635357.1 AK092107.1 AK289723.1 AK295842.1 AK308900.1 AK311182.1 BC146753.1 

    3 DOTS entries:

    DT.40112190  DT.92009897  DT.40109272 

    10 AceView cDNA sequences:

    AB075830 H96670 AK092107 AX747357 N43820 BE208047 BE336821 BG818609 
    BI260666 N35080 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for AMZ1    About this scheme

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


    ECgene alternative splicing isoforms for AMZ1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    AMZ1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGAGACTCT
    AMZ1 Expression
    About this image

    AMZ1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    AMZ1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.42221

    UniProtKB/Swiss-Prot: AMZ1_HUMAN, Q400G9
    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

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for AMZ1 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Amz11 , 5 archaelysin family metallopeptidase 11, 5 78.07(n)1
    74.04(a)1
      5 (79.27 cM)5
    2318421  NM_173405.21  NP_775581.11 
     1407241275 
    chicken
    (Gallus gallus)
    Aves AMZ11 archaelysin family metallopeptidase 1 69.9(n)
    66.67(a)
      416474  XM_414779.3  XP_414779.2 
    lizard
    (Anolis carolinensis)
    Reptilia AMZ16
    archaelysin family metallopeptidase 1
    64(a)
    1 ↔ 1
    GL343340.1(385147-391071)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for AMZ1 gene
    AMZ22  
    2 SIMAP similar genes for AMZ1 using alignment to 2 protein entries:     AMZ1_HUMAN (see all proteins):
    KIAA1950    AMZ2

    AMZ1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for AMZ1 (see all 1470)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1914685351,2
    --2635668(+) TGAGAC/TTCTGT 1 -- us2k10--------
    rs2007035821,2
    C--2635680(+) CTCAA-/AAAC  
            
    AACAA
    1 -- us2k10--------
    rs119830221,2
    H--2635683(+) aaaaaA/Caaaca 1 -- us2k1 tfbs30--------
    rs119830231,2
    H--2635691(+) acaaaA/Caaaaa 1 -- us2k1 tfbs30--------
    rs730450831,2
    C--2635705(+) GACTAG/TAAACT 1 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs2009798401,2
    C--2635996(+) TGGCAC/TGTAGT 1 -- us2k10--------
    rs725728041,2
    C--2636157(+) TTGACA/TTGGGA 1 -- us2k10--------
    rs1484944871,2
    --2636187(+) GTCCCC/TGGCAC 1 -- us2k10--------
    rs1820384651,2
    --2636667(+) CAGCAA/TGTCAT 1 -- us2k10--------
    rs2017066431,2
    --2636764(+) ATTCA-/GGGGAG 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for AMZ1 (2719156 - 2815134 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for AMZ1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2670827CNV Deletion23128226
    dgv401n21CNV Loss19592680
    nsv464257CNV Loss19166990
    dgv7122n71CNV Loss21882294
    nsv471227CNV Loss18288195
    nsv464258CNV Loss19166990
    nsv887312CNV Loss21882294
    dgv7121n71CNV Loss21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 615168    OMIM disorders: --


    AMZ1 for disorders           About GeneDecksing

    Genetic Association Database (GAD): AMZ1

    Export disorders for AMZ1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for AMZ1 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with AMZ1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of human archaemetzincin-1 and - 2, two novel members of a family of metalloproteases widely distributed in Archaea. (PubMed id 15972818)1, 2, 3, 9 Diaz-Perales A.... Lopez-Otin C. (J. Biol. Chem. 2005)
    2. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. (PubMed id 11853319)1, 2 Nagase T.... Ohara O. (DNA Res. 2001)
    3. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. (PubMed id 23563607)1 Berndt S.I....Ingelsson E. (Nat. Genet. 2013)
    4. Many sequence variants affecting diversity of adult human height. (PubMed id 18391951)4 Gudbjartsson D.F....Stefansson K. (Nat. Genet. 2008)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1 Scherer S.W.... Tsui L.-C. (Science 2003)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 155185 HGNC: 22231 AceView: KIAA1950 Ensembl:ENSG00000174945 euGenes: HUgn155185
    ECgene: AMZ1 H-InvDB: AMZ1

    (According to HUGE)
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    HUGE: KIAA1950

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for AMZ1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for AMZ1 gene:
    Search GeneIP for patents involving AMZ1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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