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

Gene ID: 155185, updated on 5-Mar-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, Apr 2022]
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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Location:
7p22.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (2679522..2765138)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (2793043..2878689)
105.20220307 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
  • 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_2023_10

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

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