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    HENMT1 HEN methyltransferase 1 [ Homo sapiens (human) ]

    Gene ID: 113802, updated on 27-Nov-2024

    Summary

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    Official Symbol
    HENMT1provided by HGNC
    Official Full Name
    HEN methyltransferase 1provided by HGNC
    Primary source
    HGNC:HGNC:26400
    See related
    Ensembl:ENSG00000162639 MIM:612178; AllianceGenome:HGNC:26400
    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
    HEN1; C1orf59
    Summary
    Enables small RNA 2'-O-methyltransferase activity. Involved in RNA methylation. Predicted to be located in P granule. Predicted to be active in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 38.3), lymph node (RPKM 5.6) and 13 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See HENMT1 in Genome Data Viewer
    Location:
    1p13.3
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (108648295..108661474, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (108681289..108694467, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (109190917..109204096, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene RPL7L1 pseudogene 21 Neighboring gene NANOG hESC enhancer GRCh37_chr1:109060171-109060846 Neighboring gene CRISPRi-validated cis-regulatory element chr1.7484 Neighboring gene Sharpr-MPRA regulatory region 3357 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1135 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1423 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 1424 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:109111447-109111662 Neighboring gene EEIG family member 2 Neighboring gene MPRA-validated peak351 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109203434-109204023 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109204024-109204612 Neighboring gene uncharacterized LOC105378890 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:109234711-109235271 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:109235834-109236394 Neighboring gene pre-mRNA processing factor 38B

    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. Screening of potential key genes in esophageal cancer based on RBP and expression verification of HENMT1. Reyimu A, et al. Medicine (Baltimore), 2023 Dec 8. PMID 38065897, Free PMC Article
    2. Photoelectrochemical biosensor for HEN1 RNA methyltransferase detection using peroxidase mimics PtCu NFs and poly(U) polymerase-mediated RNA extension. Wang H, et al. Biosens Bioelectron, 2018 Apr 30. PMID 29277012
    3. Identification of substrates of the small RNA methyltransferase Hen1 in mouse spermatogonial stem cells and analysis of its methyl-transfer domain. Peng L, et al. J Biol Chem, 2018 Jun 29. PMID 29703750, Free PMC Article
    4. Expression patterns of HENMT1 and PIWIL1 in human testis: implications for transposon expression. Hempfling AL, et al. Reproduction, 2017 Oct. PMID 28676534
    5. HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse. Lim SL, et al. PLoS Genet, 2015 Oct. PMID 26496356, Free PMC Article

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Screening of potential key genes in esophageal cancer based on RBP and expression verification of HENMT1.
      Title: Screening of potential key genes in esophageal cancer based on RBP and expression verification of HENMT1.
    2. methylation substrates in mouse spermatogonial stem cells and the substrate-recognition mechanism of mammalian Hen1
      Title: Identification of substrates of the small RNA methyltransferase Hen1 in mouse spermatogonial stem cells and analysis of its methyl-transfer domain.
    3. The proposed PEC bioassay exhibited high selectivity and low detection limit of 3.36ng/mL for HENMT1 activity assay. Furthermore, the inhibition research indicated that chlorpyrifos could inhibit the HENMT1 activity with the IC50 value of 48.32nM.
      Title: Photoelectrochemical biosensor for HEN1 RNA methyltransferase detection using peroxidase mimics PtCu NFs and poly(U) polymerase-mediated RNA extension.
    4. HENMT1 and PIWI proteins are expressed in a germ-cell-specific manner and required for transposon control.
      Title: Expression patterns of HENMT1 and PIWIL1 in human testis: implications for transposon expression.
    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)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ30525, MGC111091

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables O-methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables O-methyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables RNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA methyltransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA methyltransferase activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables small RNA 2'-O-methyltransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA methylation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in RNA methylation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in piRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in piRNA processing ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in siRNA processing IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in P granule ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    small RNA 2'-O-methyltransferase
    Names
    HEN1 methyltransferase homolog 1
    hua enhancer 1 homolog 1
    NP_001096062.1
    NP_653185.2
    XP_005270468.1
    XP_054190038.1

    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_001102592.2 → NP_001096062.1  small RNA 2'-O-methyltransferase

      See identical proteins and their annotated locations for NP_001096062.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      BC088366, BP378034, DB510959
      Consensus CDS
      CCDS787.1
      UniProtKB/Swiss-Prot
      A8MRR6, B1AM16, B1AM17, Q5T8I9, Q96EJ7, Q96NN0
      UniProtKB/TrEMBL
      A0A0A0MRN1
      Related
      ENSP00000499017.1, ENST00000651461.1
      Conserved Domains (1) summary
      pfam13649
      Location:51 → 145
      Methyltransf_25; Methyltransferase domain

    2. NM_144584.3 → NP_653185.2  small RNA 2'-O-methyltransferase

      See identical proteins and their annotated locations for NP_653185.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AK055087, BC012198, BC088366, DB510959
      Consensus CDS
      CCDS787.1
      UniProtKB/Swiss-Prot
      A8MRR6, B1AM16, B1AM17, Q5T8I9, Q96EJ7, Q96NN0
      UniProtKB/TrEMBL
      A0A0A0MRN1
      Related
      ENSP00000359049.5, ENST00000370032.9
      Conserved Domains (1) summary
      pfam13649
      Location:51 → 145
      Methyltransf_25; Methyltransferase domain

    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_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      108648295..108661474 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005270411.2 → XP_005270468.1  small RNA 2'-O-methyltransferase isoform X1

      UniProtKB/TrEMBL
      A0A0A0MRN1
      Conserved Domains (1) summary
      cl17173
      Location:40 → 175
      AdoMet_MTases; S-adenosylmethionine-dependent methyltransferases (SAM or AdoMet-MTase), class I; AdoMet-MTases are enzymes that use S-adenosyl-L-methionine (SAM or AdoMet) as a substrate for methyltransfer, creating the product S-adenosyl-L-homocysteine (AdoHcy). ...

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      108681289..108694467 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054334063.1 → XP_054190038.1  small RNA 2'-O-methyltransferase isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5T8I9.1 GenPept UniProtKB/Swiss-Prot:Q5T8I9

    Gene LinkOut

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

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