Q96JM7 (LMBL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Lethal(3)malignant brain tumor-like protein 3
Short name=H-l(3)mbt-like protein 3
Short name=L(3)mbt-like protein 3

Alternative name(s):
MBT-1

Gene names

Name:	L3MBTL3
Synonyms:	KIAA1798, MBT1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	780 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Putative Polycomb group (PcG) protein. PcG proteins maintain the transcriptionally repressive state of genes, probably via a modification of chromatin, rendering it heritably changed in its expressibility. Required for normal maturation of myeloid progenitor cells By similarity.
Subunit structure	Interacts with RNF2 By similarity.
Subcellular location	Nucleus By similarity.
Sequence similarities	Contains 3 MBT repeats. Contains 1 SAM (sterile alpha motif) domain.
Sequence caution	The sequence BAB47427.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Polymorphism
Domain	Repeat
Molecular function	Chromatin regulator
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	chromatin modification Inferred from electronic annotation. Source: UniProtKB-KW regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	nucleus Non-traceable author statement. Source: UniProtKB
Complete GO annotation...

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: Q96JM7-1)

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.

Isoform 2 (identifier: Q96JM7-2)

The sequence of this isoform differs from the canonical sequence as follows:
     72-96: Missing.

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 780

780

Lethal(3)malignant brain tumor-like protein 3

PRO_0000084450

Regions

Repeat

232 – 332

101

MBT 1

Repeat

340 – 439

100

MBT 2

Repeat

448 – 543

96

MBT 3

Domain

708 – 772

65

SAM

Natural variations

Alternative sequence

72 – 96

25

Missing in isoform 2.

VSP_013508

Natural variant

183

1

T → N. Ref.1 Ref.4
Corresponds to variant rs9388768 [ dbSNP | Ensembl ].

VAR_022368

Secondary structure

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780

Helix Strand Turn

Details...

Helix

234 – 241

8

Helix

248 – 250

3

Turn

253 – 255

3

Beta strand

269 – 274

6

Beta strand

277 – 290

14

Beta strand

293 – 298

6

Helix

303 – 305

3

Beta strand

307 – 310

4

Beta strand

314 – 317

4

Helix

321 – 325

5

Turn

337 – 339

3

Helix

342 – 348

7

Helix

356 – 358

3

Turn

360 – 363

4

Beta strand

376 – 381

6

Beta strand

384 – 397

14

Beta strand

400 – 405

6

Helix

410 – 412

3

Beta strand

414 – 416

3

Helix

428 – 431

4

Helix

450 – 456

7

Helix

464 – 466

3

Beta strand

472 – 474

3

Beta strand

480 – 484

5

Beta strand

486 – 488

3

Beta strand

492 – 500

9

Beta strand

502 – 509

8

Beta strand

510 – 512

3

Helix

514 – 516

3

Beta strand

518 – 521

4

Helix

532 – 536

5

Turn

546 – 549

4

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified April 26, 2005. Version 2. Checksum: 81F92D4423E25C84	FASTA	780	88,337
	10 20 30 40 50 60 MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA 70 80 90 100 110 120 TTTWMVPTAQ EAPTSPPSSR PVFPPAYWTS PPGCPTVFSE KTGMPFRLKD PVKVEGLQFC 130 140 150 160 170 180 ENCCQYGNVD ECLSGGNYCS QNCARHIKDK DQKEERDVEE DNEEEDPKCS RKKKPKLSLK 190 200 210 220 230 240 ADTKEDGEER DDEMENKQDV RILRGSQRAR RKRRGDSAVL KQGLPPKGKK AWCWASYLEE 250 260 270 280 290 300 EKAVAVPAKL FKEHQSFPYN KNGFKVGMKL EGVDPEHQSV YCVLTVAEVC GYRIKLHFDG 310 320 330 340 350 360 YSDCYDFWVN ADALDIHPVG WCEKTGHKLH PPKGYKEEEF NWQTYLKTCK AQAAPKSLFE 370 380 390 400 410 420 NQNITVIPSG FRVGMKLEAV DKKNPSFICV ATVTDMVDNR FLVHFDNWDE SYDYWCEASS 430 440 450 460 470 480 PHIHPVGWCK EHRRTLITPP GYPNVKHFSW DKYLEETNSL PAPARAFKVK PPHGFQKKMK 490 500 510 520 530 540 LEVVDKRNPM FIRVATVADT DDHRVKVHFD GWNNCYDYWI DADSPDIHPV GWCSKTGHPL 550 560 570 580 590 600 QPPLSPLELM EASEHGGCST PGCKGIGHFK RARHLGPHSA ANCPYSEINL NKDRIFPDRL 610 620 630 640 650 660 SGEMPPASPS FPRNKRTDAN ESSSSPEIRD QHADDVKEDF EERTESEMRT SHEARGAREE 670 680 690 700 710 720 PTVQQAQRRS AVFLSFKSPI PCLPLRWEQQ SKLLPTVAGI PASKVSKWST DEVSEFIQSL 730 740 750 760 770 780 PGCEEHGKVF KDEQIDGEAF LLMTQTDIVK IMSIKLGPAL KIFNSILMFK AAEKNSHNEL
	Isoform 2 [UniParc]. Checksum: CC4B216CF46941EC	FASTA	755	85,757
	10 20 30 40 50 60 MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN EMENVKKATA 70 80 90 100 110 120 TTTWMVPTAQ EVFSEKTGMP FRLKDPVKVE GLQFCENCCQ YGNVDECLSG GNYCSQNCAR 130 140 150 160 170 180 HIKDKDQKEE RDVEEDNEEE DPKCSRKKKP KLSLKADTKE DGEERDDEME NKQDVRILRG 190 200 210 220 230 240 SQRARRKRRG DSAVLKQGLP PKGKKAWCWA SYLEEEKAVA VPAKLFKEHQ SFPYNKNGFK 250 260 270 280 290 300 VGMKLEGVDP EHQSVYCVLT VAEVCGYRIK LHFDGYSDCY DFWVNADALD IHPVGWCEKT 310 320 330 340 350 360 GHKLHPPKGY KEEEFNWQTY LKTCKAQAAP KSLFENQNIT VIPSGFRVGM KLEAVDKKNP 370 380 390 400 410 420 SFICVATVTD MVDNRFLVHF DNWDESYDYW CEASSPHIHP VGWCKEHRRT LITPPGYPNV 430 440 450 460 470 480 KHFSWDKYLE ETNSLPAPAR AFKVKPPHGF QKKMKLEVVD KRNPMFIRVA TVADTDDHRV 490 500 510 520 530 540 KVHFDGWNNC YDYWIDADSP DIHPVGWCSK TGHPLQPPLS PLELMEASEH GGCSTPGCKG 550 560 570 580 590 600 IGHFKRARHL GPHSAANCPY SEINLNKDRI FPDRLSGEMP PASPSFPRNK RTDANESSSS 610 620 630 640 650 660 PEIRDQHADD VKEDFEERTE SEMRTSHEAR GAREEPTVQQ AQRRSAVFLS FKSPIPCLPL 670 680 690 700 710 720 RWEQQSKLLP TVAGIPASKV SKWSTDEVSE FIQSLPGCEE HGKVFKDEQI DGEAFLLMTQ 730 740 750 TDIVKIMSIK LGPALKIFNS ILMFKAAEKN SHNEL

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O. DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT ASN-183. Tissue: Brain.
[2]	"The DNA sequence and analysis of human chromosome 6." Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D. , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S. Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ASN-183. Tissue: Placenta.
[5]	"Solution structure of the first and third MBT domain from human KIAA1798 protein." RIKEN structural genomics initiative (RSGI) Submitted (NOV-2004) to the PDB data bank Cited for: STRUCTURE BY NMR OF 256-562.
+	Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

AB058701 mRNA. Translation: BAB47427.1. Different initiation.
AL583846, AL355581 Genomic DNA. Translation: CAH73677.1.
AL355581, AL583846 Genomic DNA. Translation: CAI95325.1.
CH471051 Genomic DNA. Translation: EAW48073.1.
BC060845 mRNA. Translation: AAH60845.1.

IPI

IPI00306511.
IPI00477428.

RefSeq

NP_001007103.1. NM_001007102.2.
NP_115814.1. NM_032438.2.

UniGene

Hs.658051.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1WJQ	NMR	-	A	470-562	[»]
1WJS	NMR	-	A	259-371	[»]
3UT1	X-ray	2.05	A	228-551	[»]
4FL6	X-ray	2.55	A/B	229-553	[»]

ProteinModelPortal

Q96JM7.

ModBase

Search...

Protein-protein interaction databases

IntAct

Q96JM7. 1 interaction.

MINT

MINT-1623804.

STRING

9606.ENSP00000354526.

PTM databases

PhosphoSite

Q96JM7.

Polymorphism databases

DMDM

62900619.

Proteomic databases

PaxDb

Q96JM7.

PRIDE

Q96JM7.

Protocols and materials databases

DNASU

84456.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000361794; ENSP00000354526; ENSG00000198945.
ENST00000368136; ENSP00000357118; ENSG00000198945.
ENST00000368139; ENSP00000357121; ENSG00000198945.
ENST00000526019; ENSP00000436706; ENSG00000198945.
ENST00000529410; ENSP00000431962; ENSG00000198945.
ENST00000533560; ENSP00000437185; ENSG00000198945.

GeneID

84456.

KEGG

hsa:84456.

UCSC

uc003qbt.3. human.
uc003qbu.3. human.

Organism-specific databases

CTD

84456.

GeneCards

GC06P130381.

HGNC

HGNC:23035. L3MBTL3.

HPA

HPA053035.

neXtProt

NX_Q96JM7.

PharmGKB

PA134943930.

HUGE

Search...

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG281100.

HOGENOM

HOG000231019.

HOVERGEN

HBG071375.

InParanoid

Q96JM7.

OMA

EYQSFPY.

OrthoDB

EOG41VK2D.

Gene expression databases

ArrayExpress

Q96JM7.

Bgee

Q96JM7.

CleanEx

HS_L3MBTL3.

Genevestigator

Q96JM7.

GermOnline

ENSG00000198945. Homo sapiens.

Family and domain databases

Gene3D

1.10.150.50. 1 hit.

InterPro

IPR004092. Mbt.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view]

Pfam

PF02820. MBT. 3 hits.
PF00536. SAM_1. 1 hit.
[Graphical view]

SMART

SM00561. MBT. 3 hits.
SM00454. SAM. 1 hit.
[Graphical view]

SUPFAM

SSF47769. SAM_homology. 1 hit.

PROSITE

PS51079. MBT. 3 hits.
PS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

ProtoNet

Search...

Other

BindingDB

Q96JM7.

ChEMBL

CHEMBL1287623.

ChiTaRS

L3MBTL3. human.

EvolutionaryTrace

Q96JM7.

GenomeRNAi

84456.

NextBio

74241.

Entry information

Entry name

LMBL3_HUMAN

Accession

Primary (citable) accession number: Q96JM7
Secondary accession number(s): Q4VXE1, Q5VUM9, Q6P9B5

Entry history

Integrated into UniProtKB/Swiss-Prot:	April 26, 2005
Last sequence update:	April 26, 2005
Last modified:	May 1, 2013
This is version 101 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.