Reviewed, UniProtKB/Swiss-Prot Q9UJW3 (DNM3L_HUMAN)

Names and origin

Protein names

Recommended name:
    DNA (cytosine-5)-methyltransferase 3-like

Gene names

Name:

DNMT3L

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	387 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

General annotation (Comments)

Function	Probably not catalytically active as it has lost the active site residues. May function not directly as a DNA methyltransferase but as a regulator of methylation at imprinted loci. It is required specifically for the establishment of genomic imprints but is dispensable for their propagation. It is essential for the de novo methylation of single-copy DNA sequences By similarity.
Subcellular location	Nucleus By similarity.
Tissue specificity	Expressed at low levels in several tissues including testis, ovary, and thymus.
Sequence similarities	Belongs to the C5-methyltransferase family. Contains 1 ADD-type zinc finger.

Ontologies

Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Zinc-finger
Ligand	Metal-binding Zinc
Technical term	3D-structure
Gene Ontology (GO)
Biological process	DNA methylation Non-traceable author statement. Source: UniProtKB genetic imprinting Non-traceable author statement. Source: UniProtKB spermatogenesis Non-traceable author statement. Source: UniProtKB
Cellular component	cytosol Inferred from direct assay. Source: UniProtKB
Molecular function	enzyme activator activity Inferred from direct assay. Source: MGI enzyme binding Inferred from physical interaction. Source: UniProtKB transcription repressor activity Inferred from direct assay. Source: UniProtKB zinc ion binding Inferred from electronic annotation. Source: UniProtKB-KW
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
HDAC1	Q13547	2	EBI-740967,EBI-301834

Alternative products

This entry describes 1 isoform produced by alternative splicing. [Select]

Note: Other splice isoforms seem to exist.

Isoform 1 (identifier: Q9UJW3-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 387

387

DNA (cytosine-5)-methyltransferase 3-like

PRO_0000088047

Regions

Zinc finger

53 – 145

93

ADD-type

Natural variations

Natural variant

278

1

R → G: dbSNP rs7354779. Ref.3

VAR_051962

Experimental info

Sequence conflict

246

1

P → A in AAF05812. Ref.1

Sequence conflict

266

1

L → F in AAF05812. Ref.1

Sequence conflict

333

1

Missing in AAH02560. Ref.3

Secondary structure

1

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387

Helix Strand Turn

Details...

Helix

38 – 43

6

Helix

49 – 51

3

Turn

54 – 56

3

Beta strand

61 – 64

4

Beta strand

66 – 73

8

Helix

74 – 81

8

Beta strand

91 – 95

5

Beta strand

97 – 99

3

Beta strand

102 – 104

3

Helix

119 – 125

7

Helix

130 – 136

7

Turn

143 – 145

3

Helix

160 – 171

12

Beta strand

172 – 174

3

Helix

184 – 186

3

Beta strand

192 – 197

6

Helix

200 – 205

6

Beta strand

217 – 222

6

Helix

229 – 234

6

Beta strand

239 – 244

6

Helix

256 – 270

15

Beta strand

281 – 286

6

Helix

292 – 301

10

Beta strand

307 – 313

7

Beta strand

316 – 325

10

Turn

328 – 334

7

Helix

341 – 352

12

Helix

362 – 365

4

Helix

366 – 374

9

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified February 21, 2002. Version 2. Checksum: 699AAC1929D473A9	FASTA	387	43,670
	10 20 30 40 50 60 MAAIPALDPE AEPSMDVILV GSSELSSSVS PGTGRDLIAY EVKANQRNIE DICICCGSLQ 70 80 90 100 110 120 VHTQHPLFEG GICAPCKDKF LDALFLYDDD GYQSYCSICC SGETLLICGN PDCTRCYCFE 130 140 150 160 170 180 CVDSLVGPGT SGKVHAMSNW VCYLCLPSSR SGLLQRRRKW RSQLKAFYDR ESENPLEMFE 190 200 210 220 230 240 TVPVWRRQPV RVLSLFEDIK KELTSLGFLE SGSDPGQLKH VVDVTDTVRK DVEEWGPFDL 250 260 270 280 290 300 VYGATPPLGH TCDRPPSWYL FQFHRLLQYA RPKPGSPRPF FWMFVDNLVL NKEDLDVASR 310 320 330 340 350 360 FLEMEPVTIP DVHGGSLQNA VRVWSNIPAI RSSRHWALVS EEELSLLAQN KQSSKLAAKW 370 380 PTKLVKNCFL PLREYFKYFS TELTSSL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Isolation and initial characterization of a novel zinc finger gene, DNMT3L, on 21q22.3, related to the cytosine-5-methyltransferase 3 gene family." Aapola U., Shibuya K., Scott H.S., Ollila J., Vihinen M., Heino M., Shintani A., Kawasaki K., Minoshima S., Krohn K., Antonarakis S.E., Shimizu N., Kudoh J., Peterson P. Genomics 65:293-298(2000) [PubMed: 10857753] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING.
[2]	"The DNA sequence of human chromosome 21." Hattori M., Fujiyama A., Taylor T.D., Watanabe H., Yada T., Park H.-S., Toyoda A., Ishii K., Totoki Y., Choi D.-K., Groner Y., Soeda E., Ohki M., Takagi T., Sakaki Y., Taudien S., Blechschmidt K., Polley A. , Menzel U., Delabar J., Kumpf K., Lehmann R., Patterson D., Reichwald K., Rump A., Schillhabel M., Schudy A., Zimmermann W., Rosenthal A., Kudoh J., Shibuya K., Kawasaki K., Asakawa S., Shintani A., Sasaki T., Nagamine K., Mitsuyama S., Antonarakis S.E., Minoshima S., Shimizu N., Nordsiek G., Hornischer K., Brandt P., Scharfe M., Schoen O., Desario A., Reichelt J., Kauer G., Bloecker H., Ramser J., Beck A., Klages S., Hennig S., Riesselmann L., Dagand E., Wehrmeyer S., Borzym K., Gardiner K., Nizetic D., Francis F., Lehrach H., Reinhardt R., Yaspo M.-L. Nature 405:311-319(2000) [PubMed: 10830953] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)." The MGC Project Team Genome Res. 14:2121-2127(2004) [PubMed: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA], VARIANT GLY-278. Tissue: Placenta.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBLGenBankDDBJ

AF194032 mRNA. Translation: AAF05812.1.
AP001753 Genomic DNA. Translation: BAA95556.1.
BC002560 mRNA. Translation: AAH02560.1.

IPI

IPI00002935.

RefSeq

NP_037501.2.
NP_787063.1.

UniGene

Hs.592165

3D structure databases

PDBPDBe

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
2PV0	X-ray	3.30	A/B/C	1-387	[»]
2PVC	X-ray	3.69	A/B/C	1-387	[»]
2QRV	X-ray	2.89	B/C/F/G	160-387	[»]

ModBase

Search...

Protein-protein interaction databases

IntAct

Q9UJW3. 3 interactions.

Protein family/group databases

REBASE

4636. M.HsaDnmt3L.

PTM databases

PhosphoSite

Q9UJW3.

Proteomic databases

PRIDE

Q9UJW3.

Genome annotation databases

Ensembl

ENSG00000142182. Homo sapiens. [Contig view]

GeneID

29947.

KEGG

hsa:29947.

NMPDR

fig|9606.3.peg.21063.

Organism-specific databases

GeneCards

GC21M044490.

H-InvDB

HIX0016165.

HGNC

HGNC:2980. DNMT3L.

MIM

606588. gene.

PharmGKB

PA27447.

GenAtlas

Search...

Phylogenomic databases

HOGENOM

Q9UJW3.

HOVERGEN

Q9UJW3.

OMA

Q9UJW3. NQRNIED.

Gene expression databases

ArrayExpress

Q9UJW3.

Bgee

Q9UJW3.

CleanEx

HS_DNMT3L.

GermOnline

ENSG00000142182. Homo sapiens.

Family and domain databases

ProtoNet

Search...

Other Resources

NextBio

52621.

SOURCE

Search...

Entry information

Entry name

DNM3L_HUMAN

Accession

Primary (citable) accession number: Q9UJW3
Secondary accession number(s): Q9BUJ4

Entry history

Integrated into UniProtKB/Swiss-Prot:	September 26, 2001
Last sequence update:	February 21, 2002
Last modified:	June 16, 2009
This is version 70 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)