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    AMZ1 archaelysin family metallopeptidase 1 [ Homo sapiens (human) ]

    Gene ID: 155185, updated on 2-Nov-2024

    Summary

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    Official Symbol
    AMZ1provided by HGNC
    Official Full Name
    archaelysin family metallopeptidase 1provided by HGNC
    Primary source
    HGNC:HGNC:22231
    See related
    Ensembl:ENSG00000174945 MIM:615168; AllianceGenome:HGNC:22231
    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
    Summary
    Predicted to enable metal ion binding activity and metallopeptidase activity. Predicted to be involved in proteolysis. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in brain (RPKM 1.1), endometrium (RPKM 0.6) and 7 other tissues See more
    Orthologs
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    Genomic context

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    See AMZ1 in Genome Data Viewer
    Location:
    7p22.3
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2679522..2765138)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (2793043..2878689)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (2719156..2804772)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene IQ motif containing E Neighboring gene uncharacterized LOC107986760 Neighboring gene Sharpr-MPRA regulatory region 835 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2662913-2663422 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2671045-2671776 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2672509-2673241 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2673974-2674706 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2676733-2677406 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2677407-2678078 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2680771-2681442 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2681443-2682114 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25541 Neighboring gene Sharpr-MPRA regulatory region 8408 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2692145-2692912 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2699787-2700287 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25542 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25543 Neighboring gene Sharpr-MPRA regulatory region 3776 Neighboring gene tweety family member 3 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2720455-2720960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25544 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25545 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2749197-2749892 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25547 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25549 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2752776-2752975 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25550 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2773373-2774360 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25551 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2801665-2802194 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2802725-2803253 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2811080-2811224 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25552 Neighboring gene G protein subunit alpha 12 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2847552-2848409 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2848410-2849266 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2853274-2853476 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr7:2860641-2861330 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2861331-2862020 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2864095-2864737 Neighboring gene prefoldin subunit 4 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25553 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2883249-2884066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25554 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17887 Neighboring gene H3K27ac hESC enhancer GRCh37_chr7:2896347-2896847 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2902048-2902694 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25555 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17888 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2909080-2909284 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2910232-2910451 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2911258-2911909 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2913741-2914321 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17889 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2936507-2937008 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2940368-2940617 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2952618-2953118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2953119-2953619 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:2962703-2963419 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:2977052-2977948 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:2978852-2979043 Neighboring gene caspase recruitment domain family member 11 Neighboring gene CARD11 antisense RNA 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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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    Related articles in PubMed

    1. Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins. Nagase T, et al. DNA Res, 2001 Dec 31. PMID 11853319
    2. A Genome-Wide CRISPR Screen Identifies Genes Critical for Resistance to FLT3 Inhibitor AC220. Hou P, et al. Cancer Res, 2017 Aug 15. PMID 28625976, Free PMC Article
    3. Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture. Berndt SI, et al. Nat Genet, 2013 May. PMID 23563607, Free PMC Article
    4. Human chromosome 7: DNA sequence and biology. Scherer SW, et al. Science, 2003 May 2. PMID 12690205, Free PMC Article
    5. VIRMA mediates preferential m(6)A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. Yue Y, et al. Cell Discov, 2018. PMID 29507755, Free PMC Article

    See all (9) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1950

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metallopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in proteolysis IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cellular_component ND
    No biological Data available
    more info
    		  

    General protein information

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    Preferred Names
    archaemetzincin-1
    Names
    archeobacterial metalloproteinase-like protein 1
    metalloproteinase-like protein

    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)

    1. NM_001284355.4 → NP_001271284.1  archaemetzincin-1 isoform 2

      See identical proteins and their annotated locations for NP_001271284.1

      Status: VALIDATED

      Source sequence(s)
      AC006028
      Consensus CDS
      CCDS64582.1
      UniProtKB/Swiss-Prot
      Q400G9
      UniProtKB/TrEMBL
      A4D202
      Related
      ENSP00000386020.1, ENST00000407112.1
      Conserved Domains (1) summary
      cl00064
      Location:95 → 201
      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 ...

    2. NM_001321766.2 → NP_001308695.1  archaemetzincin-1 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC006028
      UniProtKB/Swiss-Prot
      Q400G9
      UniProtKB/TrEMBL
      A4D202
      Conserved Domains (1) summary
      cd11375
      Location:95 → 305
      Peptidase_M54; Peptidase family M54, also called archaemetzincins or archaelysins

    3. NM_001384739.1 → NP_001371668.1  archaemetzincin-1 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC006028
      Conserved Domains (1) summary
      cd11375
      Location:95 → 282
      Peptidase_M54; Peptidase family M54, also called archaemetzincins or archaelysins

    4. NM_001384740.1 → NP_001371669.1  archaemetzincin-1 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC006028
      Conserved Domains (1) summary
      cd11375
      Location:95 → 305
      Peptidase_M54; Peptidase family M54, also called archaemetzincins or archaelysins

    5. NM_001384741.1 → NP_001371670.1  archaemetzincin-1 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC006028

    6. NM_001384742.1 → NP_001371671.1  archaemetzincin-1 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC006028
      Conserved Domains (1) summary
      PHA03247
      Location:197 → 286
      PHA03247; large tegument protein UL36; Provisional

    7. NM_001384743.1 → NP_001371672.1  archaemetzincin-1 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC006028
      Consensus CDS
      CCDS34589.1
      UniProtKB/Swiss-Prot
      B3KRS0, Q400G9, Q8TF51
      UniProtKB/TrEMBL
      A4D202
      Related
      ENSP00000506962.1, ENST00000683327.1
      Conserved Domains (1) summary
      cd11375
      Location:95 → 305
      Peptidase_M54; Peptidase family M54, also called archaemetzincins or archaelysins

    8. NM_133463.4 → NP_597720.1  archaemetzincin-1 isoform 1

      See identical proteins and their annotated locations for NP_597720.1

      Status: VALIDATED

      Source sequence(s)
      AC006028
      Consensus CDS
      CCDS34589.1
      UniProtKB/Swiss-Prot
      B3KRS0, Q400G9, Q8TF51
      UniProtKB/TrEMBL
      A4D202
      Related
      ENSP00000308149.4, ENST00000312371.8
      Conserved Domains (1) summary
      cd11375
      Location:95 → 305
      Peptidase_M54; Peptidase family M54, also called archaemetzincins or archaelysins

    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

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      2679522..2765138
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011515151.4 → XP_011513453.1  archaemetzincin-1 isoform X1

      Conserved Domains (1) summary
      cl00064
      Location:95 → 201
      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 ...

    2. XM_047419926.1 → XP_047275882.1  archaemetzincin-1 isoform X2

    3. XM_017011776.2 → XP_016867265.1  archaemetzincin-1 isoform X3

    4. XM_017011774.3 → XP_016867263.1  archaemetzincin-1 isoform X1

      Conserved Domains (1) summary
      cl00064
      Location:95 → 201
      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 ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      2793043..2878689
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357355.1 → XP_054213330.1  archaemetzincin-1 isoform X1

    2. XM_054357357.1 → XP_054213332.1  archaemetzincin-1 isoform X2

    3. XM_054357358.1 → XP_054213333.1  archaemetzincin-1 isoform X3

    4. XM_054357356.1 → XP_054213331.1  archaemetzincin-1 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q400G9.1 GenPept UniProtKB/Swiss-Prot:Q400G9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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