HENMT1 HEN methyltransferase 1 [Homo sapiens (human)] - Gene

Summary

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. 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, Apr 2022]
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

Location:: 1p13.3

Exon count:: 9

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (108648295..108661474, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (108681289..108694467, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (109190917..109204096, complement)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH12040 (e-PCR)
- UniSTS:4112

G19856 (e-PCR)
- UniSTS:59827

A002A28 (e-PCR)
- UniSTS:59828

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

EC 2.1.1.386

NP_653185.2

EC 2.1.1.386

XP_005270468.1

EC 2.1.1.386

XP_054190038.1

EC 2.1.1.386

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)

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
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_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000001.11 Reference GRCh38.p14 Primary Assembly

Range

108648295..108661474 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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). ...