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Q96JM7 (LMBL3_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 109. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length780 AA.
Sequence statusComplete.
Protein existenceEvidence 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 processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityAlternative splicing
Polymorphism
   DomainRepeat
   Molecular functionChromatin regulator
   PTMPhosphoprotein
   Technical term3D-structure
Complete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processchromatin modification

Inferred from electronic annotation. Source: UniProtKB-KW

regulation of transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentnucleus

Inferred from electronic annotation. Source: UniProtKB-SubCell

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 keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 780780Lethal(3)malignant brain tumor-like protein 3
PRO_0000084450

Regions

Repeat232 – 332101MBT 1
Repeat340 – 439100MBT 2
Repeat448 – 54396MBT 3
Domain708 – 77265SAM

Amino acid modifications

Modified residue6081Phosphoserine Ref.6 Ref.8

Natural variations

Alternative sequence72 – 9625Missing in isoform 2.
VSP_013508
Natural variant1831T → N. Ref.1 Ref.4
Corresponds to variant rs9388768 [ dbSNP | Ensembl ].
VAR_022368

Secondary structure

.................................................................. 780
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified April 26, 2005. Version 2.
Checksum: 81F92D4423E25C84

FASTA78088,337
        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 

« Hide

Isoform 2 [UniParc].

Checksum: CC4B216CF46941EC
Show »

FASTA75585,757

References

« Hide '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. expand/collapse author list , 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. expand/collapse author list , 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]"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks."
Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.
Cell 127:635-648(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[6]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-608, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[7]"Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis."
Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L., Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.
Sci. Signal. 3:RA3-RA3(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Cervix carcinoma.
[8]"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T., Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.
Sci. Signal. 4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-608, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[9]"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.
RefSeqNP_001007103.1. NM_001007102.2.
NP_115814.1. NM_032438.2.
XP_005267218.1. XM_005267161.2.
UniGeneHs.658051.

3D structure databases

PDBe
RCSB PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1WJQNMR-A470-562[»]
1WJSNMR-A259-371[»]
3UT1X-ray2.05A228-551[»]
4FL6X-ray2.55A/B229-553[»]
4L59X-ray2.29A228-544[»]
ProteinModelPortalQ96JM7.
SMRQ96JM7. Positions 117-153, 195-562, 705-762.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124091. 6 interactions.
IntActQ96JM7. 6 interactions.
MINTMINT-1623804.
STRING9606.ENSP00000354526.

Chemistry

BindingDBQ96JM7.
ChEMBLCHEMBL1287623.

PTM databases

PhosphoSiteQ96JM7.

Polymorphism databases

DMDM62900619.

Proteomic databases

PaxDbQ96JM7.
PRIDEQ96JM7.

Protocols and materials databases

DNASU84456.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000361794; ENSP00000354526; ENSG00000198945. [Q96JM7-1]
ENST00000368136; ENSP00000357118; ENSG00000198945. [Q96JM7-1]
ENST00000368139; ENSP00000357121; ENSG00000198945. [Q96JM7-2]
ENST00000526019; ENSP00000436706; ENSG00000198945. [Q96JM7-2]
ENST00000529410; ENSP00000431962; ENSG00000198945. [Q96JM7-1]
ENST00000533560; ENSP00000437185; ENSG00000198945. [Q96JM7-2]
GeneID84456.
KEGGhsa:84456.
UCSCuc003qbt.3. human. [Q96JM7-1]
uc003qbu.3. human. [Q96JM7-2]

Organism-specific databases

CTD84456.
GeneCardsGC06P130381.
HGNCHGNC:23035. L3MBTL3.
HPAHPA053035.
neXtProtNX_Q96JM7.
PharmGKBPA134943930.
HUGESearch...
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG281100.
HOGENOMHOG000231019.
HOVERGENHBG071375.
InParanoidQ96JM7.
OMAEYQSFPY.
OrthoDBEOG7FR7FT.
PhylomeDBQ96JM7.
TreeFamTF316498.

Gene expression databases

ArrayExpressQ96JM7.
BgeeQ96JM7.
CleanExHS_L3MBTL3.
GenevestigatorQ96JM7.

Family and domain databases

Gene3D1.10.150.50. 1 hit.
InterProIPR004092. Mbt.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view]
PfamPF02820. MBT. 3 hits.
PF00536. SAM_1. 1 hit.
[Graphical view]
SMARTSM00561. MBT. 3 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMSSF47769. SSF47769. 1 hit.
PROSITEPS51079. MBT. 3 hits.
PS50105. SAM_DOMAIN. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSL3MBTL3. human.
EvolutionaryTraceQ96JM7.
GenomeRNAi84456.
NextBio74241.
PROQ96JM7.

Entry information

Entry nameLMBL3_HUMAN
AccessionPrimary (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: April 16, 2014
This is version 109 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM