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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

AMZ1 Gene

protein-coding   GIFtS: 43
GCID: GC07P002719

archaelysin family metallopeptidase 1

  Search for AMZ1
in our new
 Human Malady Compendium 
Biological research products
for AMZ1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Archaelysin Family Metallopeptidase 11 2
KIAA19501 3
Archeobacterial Metalloproteinase-Like Protein 12 3
Archaemetzincin-11
Metalloproteinase-Like Protein2
EC 3.4.-.-3

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

Export aliases for AMZ1 gene to outside databases

Previous GC identifers: GC07P002493 GC07P002685


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  NT_007819.17  NT_079592.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for AMZ1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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:
2,804,759 bp from pter
Size:
85,604 bases      Orientation:
plus strand

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

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q400G9

  • AMZ1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_597720.1  
    ENSEMBL proteins: 
     ENSP00000308149   ENSP00000386020  

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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    AMZ1 for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: 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

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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008237metallopeptidase activity IEA--
    GO:0008270zinc ion binding IEA--


    AMZ1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for AMZ1

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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


    AMZ1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for AMZ1
    Search CenterWatch for drugs/clinical trials and news about AMZ1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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    About This Section

    REFSEQ mRNAs for AMZ1 gene: 
    NM_133463.1  

    Unigene Cluster for AMZ1:

    Archaelysin family metallopeptidase 1
    Hs.42221  [show with all ESTs]
    Unigene Representative Sequence: BC146753
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000312371(uc003smr.1 uc003sms.1 uc011jwa.1) ENST00000407112
    ENST00000485540 ENST00000480560 ENST00000489665

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    SwitchGear 3'UTR luciferase reporter plasmidAMZ1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA 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 BE208047 AK092107 AX747357 BE336821 BG818609 N43820 H96670 
    N35080 BI260666 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    AMZ1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGAGACTCT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See AMZ1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for AMZ1

    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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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for AMZ1

    (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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for AMZ1 gene from 3/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves AMZ11 archaelysin family metallopeptidase 1 69.49(n)
    66.13(a)
      416474  XM_414779.2  XP_414779.2 
    lizard
    (Anolis carolinensis)
    Reptilia AMZ16
    --
    64(a)
    1 ↔ 1
    GL343340.1(385147-391071)
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01038699.16
    --
    31(a)
    1 → many
    12(21909237-21913265)


    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)
    About This Section
    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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/344 NCBI SNPs in AMZ1 are shown (see all 344    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1119803501,2
    --2636179(+) CAAGCA/TCTGTC 1 -- us2k11Minor allele frequency- T:0.00CSA 1
    rs4226141,2
    C,--2636743(-) TTTGCC/TGTGTG 1 -- us2k1 tfbs35Minor allele frequency- T:0.23NA MN WA 308
    rs677760361,2
    --2637026(+) CTGAC-/CTGAC 
            
    TAAGT
    1 -- us2k10--------
    rs16138631,2
    F,,--2637359(+) CACCCG/AGCCGT 1 -- us2k1 tfbs31Minor allele frequency- A:0.41MN 184
    rs752648281,2
    F--2637588(+) ATTGGC/G/TGCTGT 1 -- us2k12NA CSA 4
    rs3760481,2
    C,--2637625(-) TGGGCG/ACTCAA 1 -- ut51 ese34Minor allele frequency- A:0.31MN NA WA 306
    rs3907781,2
    --2637644(-) TGCAAT/AGTCCA 1 -- ut51 ese34Minor allele frequency- A:0.43MN NA CSA 190
    rs284966131,2
    --2637747(+) GAGTCA/GCCGAA 1 -- int10--------
    rs3901421,2
    --2637832(-) GGAGCA/CGCAGC 1 -- int11Minor allele frequency- C:0.00MN 184
    rs732811471,2
    C,--2637945(+) TCATCC/TTGGGG 1 -- int12Minor allele frequency- T:0.10WA 120

    HapMap Linkage Disequilibrium report for AMZ1 (2719156 - 2804759 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for AMZ1
         2 CNVs: 30256 30255

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
      --

    (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)
    About This Section

    PubMed articles for AMZ1 gene integrated from 9 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. (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. (2001)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    4. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1 Scherer S.W.... Tsui L.-C. (2003)
    5. 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. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 155185 HGNC: 22231 AceView: KIAA1950 Ensembl:ENSG00000174945 euGenes: HUgn155185
    ECgene: AMZ1 H-InvDB: AMZ1

    (According to HUGE)
    About This Section
    HUGE: KIAA1950

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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