FertilityOnline | Spermatogenes

Detail Information of SG000142

General information

SG ID

SG000142

Gene Name

Henmt1

Gene Synonyms/Alias

4921515J06Rik, Hen1, mHEN1

Organism

Mus musculus

NCBI Taxonomy ID

10090

Ensembl Gene ID

ENSMUSG00000045662

Ensembl Protein ID

ENSMUSP00000143304 ENSMUSP00000054829 ENSMUSP00000096277 ENSMUSP00000102196
ENSMUSP00000143561 ENSMUSP00000143574

Description

HEN1 methyltransferase homolog 1 (Arabidopsis) [Mus musculus (house mouse)]

Orthology

Species	Uniprot	Gene stable ID	Gene Name
Rattus norvegicus	Q32PY6	RGD:1306230	Henmt1
Gallus gallus	E1BVR9	Ensembl:ENSGALG00000001959	HENMT1
Danio rerio	Q568P9	ZFIN:ZDB-GENE-050417-387	henmt1

More Orthology >>

Status

Reviewed functional gene

Functional information

Function in Stage	meiotic
Function in Cell Type	Spermatocyte
The information of related literature	1. Abstract piRNAs are critical for transposable element (TE) repression and germ cell survival during the early phases of spermatogenesis, however, their role in adult germ cells and the relative importance of piRNA ... PMID: [26496356]
Figures for illustrating the function of this protein/gene	Lim, S. L., Qu, Z. P., Kortschak, R. D., Lawrence, D. M., Geoghegan, J., Hempfling, A. L., Bergmann, M., Goodnow, C. C., Ormandy, C. J., Wong, L., Mann, J., Scott, H. S., Jamsai, D., Adelson, D. L. and O'Bryan, M. K. (2015) HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse. PLoS Genet 11(10): e1005620. PMID: [26496356] Lim, S. L., Qu, Z. P., Kortschak, R. D., Lawrence, D. M., Geoghegan, J., Hempfling, A. L., Bergmann, M., Goodnow, C. C., Ormandy, C. J., Wong, L., Mann, J., Scott, H. S., Jamsai, D., Adelson, D. L. and O'Bryan, M. K. (2015) HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse. PLoS Genet 11(10): e1005620. PMID: [26496356] Lim, S. L., Qu, Z. P., Kortschak, R. D., Lawrence, D. M., Geoghegan, J., Hempfling, A. L., Bergmann, M., Goodnow, C. C., Ormandy, C. J., Wong, L., Mann, J., Scott, H. S., Jamsai, D., Adelson, D. L. and O'Bryan, M. K. (2015) HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse. PLoS Genet 11(10): e1005620. PMID: [26496356] Lim, S. L., Qu, Z. P., Kortschak, R. D., Lawrence, D. M., Geoghegan, J., Hempfling, A. L., Bergmann, M., Goodnow, C. C., Ormandy, C. J., Wong, L., Mann, J., Scott, H. S., Jamsai, D., Adelson, D. L. and O'Bryan, M. K. (2015) HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse. PLoS Genet 11(10): e1005620. PMID: [26496356] Lim, S. L., Qu, Z. P., Kortschak, R. D., Lawrence, D. M., Geoghegan, J., Hempfling, A. L., Bergmann, M., Goodnow, C. C., Ormandy, C. J., Wong, L., Mann, J., Scott, H. S., Jamsai, D., Adelson, D. L. and O'Bryan, M. K. (2015) HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse. PLoS Genet 11(10): e1005620. PMID: [26496356] Lim, S. L., Qu, Z. P., Kortschak, R. D., Lawrence, D. M., Geoghegan, J., Hempfling, A. L., Bergmann, M., Goodnow, C. C., Ormandy, C. J., Wong, L., Mann, J., Scott, H. S., Jamsai, D., Adelson, D. L. and O'Bryan, M. K. (2015) HENMT1 and piRNA Stability Are Required for Adult Male Germ Cell Transposon Repression and to Define the Spermatogenic Program in the Mouse. PLoS Genet 11(10): e1005620. PMID: [26496356]
Functional description	HEN methyltransferase 1 (HENMT1) is required for piRNA 3' methylation and stability. Loss of HENMT1 leads to piRNA instability, reduced piRNA bulk and length, and ultimately male sterility characterized by a germ cell arrest at the elongating germ cell phase of spermatogenesis
Protein complex
Pathway	ReactomeID: R-MMU-5601884 PIWI-interacting RNA (piRNA) biogenesis
Human diseases
OMIM
Spermatogenesis failure	N/A

Expression and location

Tissue specificity (in Homo sapiens)	Expressed highest in testis
Testicular Cell specificity (in Mus musculus)	Expressed highest in spermatocyte
Testicular scRNA-seq (in Homo sapiens)	View detail
Testicular scRNA-seq (in Mus musculus)	View detail
Subcellular location	Cytoplasm

Mutation in human orthology

Variants founded in public databases

1000G (Phase 3): 411 ESP6500 (SI-V2): 60 ExAC (r0.3.1): 399 dbSNP(Build 147): 1168

Variants founded in in-house datasets

Chinese health control (254): 1 European health control (283): Chinese patients (168):

De novo Mutation Rate

Gene Name	DNMR-average	DNMR-SC
HENMT1	0.000015285	0.0000156501

Other information

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Sub-Ontologies	Accession	Term	Evidence
Biological Process	GO:0001510	RNA methylation	IEA
Biological Process	GO:0031047	gene silencing by RNA	IEA
Biological Process	GO:0032259	methylation	IEA
Biological Process	GO:0034587	piRNA metabolic process	IDA
Cellular Component	GO:0005575	cellular_component	ND
Cellular Component	GO:0005737	cytoplasm	IEA
Cellular Component	GO:0005829	cytosol	TAS
Cellular Component	GO:0043186	P granule	ISS
Molecular Function	GO:0003723	RNA binding	IEA
Molecular Function	GO:0008168	methyltransferase activity	IEA
Molecular Function	GO:0008171	O-methyltransferase activity	IEA
Molecular Function	GO:0008173	RNA methyltransferase activity	IEA
Molecular Function	GO:0016740	transferase activity	IEA
Molecular Function	GO:0046872	metal ion binding	IEA

Protein-Protein interaction information

Protein A	Gene name A	Protein B	Gene name B	Evidence
ENSMUSP00000054829	Henmt1	ENSMUSP00000054980		predicted
ENSMUSP00000054829	Henmt1	ENSMUSP00000055689	Pdss1	predicted
ENSMUSP00000054829	Henmt1	ENSMUSP00000057815	Zfp36	predicted

More PPIs >>

Protein family and Domain

Q8CAE2