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    ARMT1 acidic residue methyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 79624, updated on 11-Apr-2024

    Summary

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    Official Symbol
    ARMT1provided by HGNC
    Official Full Name
    acidic residue methyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:17872
    See related
    Ensembl:ENSG00000146476 MIM:616332; AllianceGenome:HGNC:17872
    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
    Also known as
    C6orf211
    Summary
    Enables S-adenosylmethionine-dependent methyltransferase activity; enzyme binding activity; and protein carboxyl O-methyltransferase activity. Involved in methylation and regulation of response to DNA damage stimulus. [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in thyroid (RPKM 18.3), kidney (RPKM 17.3) and 24 other tissues See more
    Orthologs
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    Genomic context

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    Location:
    6q25.1
    Exon count:
    5
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (151452466..151470101)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (152653108..152670749)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (151773601..151791236)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124901433 Neighboring gene heat shock protein family A (Hsp70) member 8 pseudogene 15 Neighboring gene required for meiotic nuclear division 1 homolog Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25282 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25283 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17688 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:151776537-151777294 Neighboring gene uncharacterized LOC124901434 Neighboring gene uncharacterized LOC124901436 Neighboring gene coiled-coil domain containing 170

    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. Human ARMT1 structure and substrate specificity indicates that it is a DUF89 family damage-control phosphatase. Dennis TN, et al. J Struct Biol, 2020 Oct 1. PMID 32682077
    2. Armt1: a phoenix rises from the ashes. Hoelz D. Oncotarget, 2015 Oct 20. PMID 26450907, Free PMC Article
    3. Human C6orf211 encodes Armt1, a protein carboxyl methyltransferase that targets PCNA and is linked to the DNA damage response. Perry JJ, et al. Cell Rep, 2015 Mar 3. PMID 25732820, Free PMC Article
    4. ESR1 is co-expressed with closely adjacent uncharacterised genes spanning a breast cancer susceptibility locus at 6q25.1. Dunbier AK, et al. PLoS Genet, 2011 Apr. PMID 21552322, Free PMC Article
    5. A genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia. Kim DH, et al. Blood, 2011 Jun 23. PMID 21540461

    See all (34) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Human ARMT1 structure and substrate specificity indicates that it is a DUF89 family damage-control phosphatase.
      Title: Human ARMT1 structure and substrate specificity indicates that it is a DUF89 family damage-control phosphatase.
    2. Studies show that acidic residue methyltransferase 1 (Armt1) has a vital role in regulation of the DNA damage response likely through its ability to O-methylate glutamyl residues of the DNA repair factor proliferating cell nuclear antigen (PCNA).
      Title: Armt1: a phoenix rises from the ashes.
    3. Armt1 protein specifically targets proliferating cell nuclear antigen (PCNA) in breast cancer cells, predominately methylating glutamate side chains.
      Title: Human C6orf211 encodes Armt1, a protein carboxyl methyltransferase that targets PCNA and is linked to the DNA damage response.
    4. C6ORF211 correlates with proliferation and clinical outcome in tumors.
      Title: ESR1 is co-expressed with closely adjacent uncharacterised genes spanning a breast cancer susceptibility locus at 6q25.1.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Candidate gene/loci studies in cleft lip/palate and dental anomalies finds novel susceptibility genes for clefts.
    Submit: New GeneRIF Correction

    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

    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

    • FLJ12910, DKFZp566I174

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables S-adenosylmethionine-dependent methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables enzyme binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables fructose 6-phosphate aldolase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables fructose-1-phosphatase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phosphatase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein carboxyl O-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein-glutamate O-methyltransferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA damage response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in methylation IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    damage-control phosphatase ARMT1
    Names
    UPF0364 protein C6orf211
    protein-glutamate O-methyltransferase
    sugar phosphate phosphatase ARMT1
    NP_001273491.1
    NP_078849.1

    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_001286562.2 → NP_001273491.1  damage-control phosphatase ARMT1 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate exon in the 5' region, and it thus differs in its 5' UTR and initiates translation from a downstream in-frame start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
      Source sequence(s)
      AK022972, AK298490, BC011348, DB443862
      Consensus CDS
      CCDS69224.1
      UniProtKB/TrEMBL
      B4DPT6, F5GZY1
      Related
      ENSP00000444121.1, ENST00000545879.5
      Conserved Domains (1) summary
      pfam01937
      Location:1 → 300
      DUF89; Protein of unknown function DUF89

    2. NM_024573.3 → NP_078849.1  damage-control phosphatase ARMT1 isoform a

      See identical proteins and their annotated locations for NP_078849.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AK022972, BC011348
      Consensus CDS
      CCDS5233.1
      UniProtKB/Swiss-Prot
      Q96FC6, Q9H993, Q9UFY5
      Related
      ENSP00000356263.3, ENST00000367294.4
      Conserved Domains (1) summary
      pfam01937
      Location:20 → 419
      DUF89; Protein of unknown function DUF89

    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_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      151452466..151470101
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      152653108..152670749
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9H993.1 GenPept UniProtKB/Swiss-Prot:Q9H993

    Gene LinkOut

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

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