HENMT1 (HEN methyltransferase 1)

Gene

• Entrez ID: 113802
• Gene name: HEN methyltransferase 1
• Gene symbol: HENMT1
• Synonyms (NCBI Gene): C1orf59, HEN1
• Chromosome: 1
• Chromosome location: 1p13.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1044196	hsa-miR-1266	CLIP-seq
MIRT1044197	hsa-miR-135a	CLIP-seq
MIRT1044198	hsa-miR-135b	CLIP-seq
MIRT1044199	hsa-miR-3127-5p	CLIP-seq
MIRT1044200	hsa-miR-3176	CLIP-seq
MIRT1044201	hsa-miR-3187-3p	CLIP-seq
MIRT1044202	hsa-miR-3664-3p	CLIP-seq
MIRT1044203	hsa-miR-3918	CLIP-seq
MIRT1044204	hsa-miR-3922-3p	CLIP-seq
MIRT1044205	hsa-miR-4284	CLIP-seq
MIRT1044206	hsa-miR-4418	CLIP-seq
MIRT1044207	hsa-miR-4437	CLIP-seq
MIRT1044208	hsa-miR-4518	CLIP-seq
MIRT1044209	hsa-miR-4529-5p	CLIP-seq
MIRT1044210	hsa-miR-509-3-5p	CLIP-seq
MIRT1044211	hsa-miR-509-5p	CLIP-seq
MIRT1044212	hsa-miR-513c	CLIP-seq
MIRT1044213	hsa-miR-514b-5p	CLIP-seq
MIRT1044214	hsa-miR-622	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001510	Process	RNA methylation	IDA	11283698
GO:0001510	Process	RNA methylation	IEA
GO:0001510	Process	RNA methylation	ISS
GO:0003723	Function	RNA binding	IEA
GO:0005515	Function	Protein binding	IPI	22458338, 25416956, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008171	Function	O-methyltransferase activity	IBA
GO:0008171	Function	O-methyltransferase activity	IEA
GO:0008171	Function	O-methyltransferase activity	ISS
GO:0008173	Function	RNA methyltransferase activity	IBA
GO:0008173	Function	RNA methyltransferase activity	IEA
GO:0008173	Function	RNA methyltransferase activity	ISS
GO:0016740	Function	Transferase activity	IEA
GO:0030422	Process	SiRNA processing	IBA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0032259	Process	Methylation	IEA
GO:0034587	Process	PiRNA processing	IBA
GO:0034587	Process	PiRNA processing	IEA
GO:0034587	Process	PiRNA processing	ISS
GO:0043186	Component	P granule	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0090486	Function	Small RNA 2'-O-methyltransferase activity	IDA	11283698
GO:0090486	Function	Small RNA 2'-O-methyltransferase activity	IEA

Other IDs

• MIM: 612178
• HGNC: 26400
• e!Ensembl: ENSG00000162639

Protein

• UniProt ID: Q5T8I9
• Protein name: Small RNA 2'-O-methyltransferase (EC 2.1.1.386) (HEN1 methyltransferase homolog 1)
• Protein function: Methyltransferase that adds a 2'-O-methyl group at the 3'-end of piRNAs, a class of 24 to 30 nucleotide RNAs that are generated by a Dicer-independent mechanism and are primarily derived from transposons and other repeated sequence elements. Thi
• PDB: 4XCX, 5WY0
• Sequence:

  MEENNLQCSSVVDGNFEEVPRETAIQFKPPLYRQRYQFVKNLVDQHEPKKVADLGCGDTS
  LLRLLKVNPCIELLVGVDINEDKLRWRGDSLAPFLGDFLKPRDLNLTITLYHGSVVERDS
  RLLGFDLITCIELIEHLDSGDLARFPEVVFGYLSPSMIVISTPNSEFNPLFPSVTLRDSD
  HKFEWTRMEFQTWALYVANRYDYSVEFTGVGEPPAGAENVGYCTQIGIFRKNGGKATESC
  LSEQHDQHVYKAVFTTSYPSLQQERFFKLVLVNEVSQQVESLRVSHLPRRKEQAGERGDK
  PKDIGGSKAPVPCFGPVFTEVEKAKIENSPTPFCVGDKFFVPLQRLLAYPKLNRLCANEE
  MMRSVIADSIPLSSDGSAVVADLRNYFDEQFEF

• Sequence length: 393

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Azoospermia	Pathogenic	rs1383002765, rs2100996308	RCV001797578 RCV001797579	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Male infertility	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Azoospermia	Azoospermia	Pubtator	35172124	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	38065897, 39849452	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	39849452	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	36626444	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	1528853		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	1528853		★☆☆☆☆ Found in Text Mining only