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Gene id

29947

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

DNMT3L Gene UCSC Ensembl

Gene name

DNA methyltransferase 3 like

Alternate names

DNA (cytosine-5)-methyltransferase 3-like, DNA (cytosine-5-)-methyltransferase 3-like, cytosine-5-methyltransferase 3-like protein, human cytosine-5-methyltransferase 3-like protein,

Gene location

21q22.3 (49235466: 49250525) Exons: 17 NC_000023.11

Gene summary(Entrez)

CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a nuclear protein with similarity to DNA methyltransferases, but is not thought to function as a DNA methyltransferase as it does not contain the amino acid residues necessary for methyltransferase activity. However, it does stimulate de novo methylation by DNA cytosine methyltransferase 3 alpha and is thought to be required for the establishment of maternal genomic imprints. This protein also mediates transcriptional repression through interaction with histone deacetylase 1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2012]

OMIM

606588

SNPs

rs2276248

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000021.9   g.44259375T>C
NC_000021.8   g.45679258T>C
NM_013369.3   c.344+62A>G
NM_175867.2   c.344+62A>G
rs7354779

Strand: +   Allele origin: unknown  Allele change: C/T   Mutation type: snp

NC_000021.8   g.45670770T>C
NC_000021.9   g.44250887T>C
NM_013369.3   c.832A>G
NR_135514.1   n.75T>C
NP_787063.1   p.Arg278Gly
NP_037501.2   p.Arg278Gly
NM_175867.2   c.832A>G
rs8129776

Strand: +   Allele origin: unknown  Allele change: A/G   Mutation type: snp


NC_000021.9   g.44249746G>A
NC_000021.8   g.45669629G>A
NM_013369.3   c.910-635C>T
NR_135514.1   n.-1067G>A
NM_175867.2   c.910-635C>T

Protein Summary

Protein general information

Q9UJW3

Name: DNA (cytosine 5) methyltransferase 3 like

Length: 386 Mass: 43,583

Tissue specificity: Expressed at low levels in several tissues including testis, ovary, and thymus. {ECO

Sequence

MAAIPALDPEAEPSMDVILVGSSELSSSVSPGTGRDLIAYEVKANQRNIEDICICCGSLQVHTQHPLFEGGICAP
CKDKFLDALFLYDDDGYQSYCSICCSGETLLICGNPDCTRCYCFECVDSLVGPGTSGKVHAMSNWVCYLCLPSSR
SGLLQRRRKWRSQLKAFYDRESENPLEMFETVPVWRRQPVRVLSLFEDIKKELTSLGFLESGSDPGQLKHVVDVT
DTVRKDVEEWGPFDLVYGATPPLGHTCDRPPSWYLFQFHRLLQYARPKPGSPRPFFWMFVDNLVLNKEDLDVASR
FLEMEPVTIPDVHGGSLQNAVRVWSNIPAIRSRHWALVSEEELSLLAQNKQSSKLAAKWPTKLVKNCFLPLREYF
KYFSTELTSSL

Structural information

Protein Domains	ADD. (41-173)
Interpro:	IPR025766 IPR030486 IPR011011 IPR013083
Prosite:	PS51533
PDB:	2PV0 2PVC 2QRV 4U7P 4U7T
PDBsum:	2PV0 2PVC 2QRV 4U7P 4U7T
DIP:	35238
MINT:	1448248
STRING:	ENSP00000270172;

Other Databases

GeneCards: DNMT3L; Malacards: DNMT3L

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0006306	DNA methylation	NAS	biological_process
GO:0006349	regulation of gene expres sion by genetic imprintin g	NAS	biological_process
GO:0007283	spermatogenesis	NAS	biological_process
GO:0008047	enzyme activator activity	IDA	molecular_function
GO:0019899	enzyme binding	IPI	molecular_function
GO:0043085	positive regulation of ca talytic activity	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0006306	DNA methylation	IEA	biological_process
GO:0006306	DNA methylation	NAS	biological_process
GO:0006349	regulation of gene expres sion by genetic imprintin g	NAS	biological_process
GO:0007283	spermatogenesis	NAS	biological_process
GO:0008047	enzyme activator activity	IDA	molecular_function
GO:0019899	enzyme binding	IEA	molecular_function
GO:0019899	enzyme binding	IPI	molecular_function
GO:0030234	enzyme regulator activity	IEA	molecular_function
GO:0043085	positive regulation of ca talytic activity	IEA	biological_process
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0046872	metal ion binding	IEA	molecular_function
GO:0050790	regulation of catalytic a ctivity	IEA	biological_process
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	NAS	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0006306	DNA methylation	NAS	biological_process
GO:0006349	regulation of gene expres sion by genetic imprintin g	NAS	biological_process
GO:0007283	spermatogenesis	NAS	biological_process
GO:0008047	enzyme activator activity	IDA	molecular_function
GO:0019899	enzyme binding	IPI	molecular_function
GO:0045892	negative regulation of tr anscription, DNA-template d	IDA	biological_process

Diseases

Associated diseases	References
Cancer	PMID: 19064572
Endometriosis	PMID: 26647998
Endometriosis	INFBASE22401780
Spermatogenetic defects	PMID: 22116073
Unexplained azoospermia	PMID: 26662397

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
22401780	Endometrio sis	rs113593938, rs8129776, rs7354779, rs2276248					Show abstract