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Q96JM7

- LMBL3_HUMAN

UniProt

Q96JM7 - LMBL3_HUMAN

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Protein
Lethal(3)malignant brain tumor-like protein 3
Gene
L3MBTL3, KIAA1798, MBT1
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5 - Experimental evidence at protein leveli

Functioni

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.

GO - Biological processi

  1. chromatin modification Source: UniProtKB-KW
  2. regulation of transcription, DNA-templated Source: UniProtKB-KW
  3. transcription, DNA-templated Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Chromatin regulator

Keywords - Biological processi

Transcription, Transcription regulation

Names & Taxonomyi

Protein namesi
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 namesi
Name:L3MBTL3
Synonyms:KIAA1798, MBT1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:23035. L3MBTL3.

Subcellular locationi

Nucleus By similarity

GO - Cellular componenti

  1. nucleus Source: UniProtKB-SubCell
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134943930.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 780780Lethal(3)malignant brain tumor-like protein 3
PRO_0000084450Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei608 – 6081Phosphoserine2 Publications

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ96JM7.
PaxDbiQ96JM7.
PRIDEiQ96JM7.

PTM databases

PhosphoSiteiQ96JM7.

Expressioni

Gene expression databases

ArrayExpressiQ96JM7.
BgeeiQ96JM7.
CleanExiHS_L3MBTL3.
GenevestigatoriQ96JM7.

Organism-specific databases

HPAiHPA053035.

Interactioni

Subunit structurei

Interacts with RNF2 By similarity.

Protein-protein interaction databases

BioGridi124091. 6 interactions.
IntActiQ96JM7. 6 interactions.
MINTiMINT-1623804.
STRINGi9606.ENSP00000354526.

Structurei

Secondary structure

Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi234 – 2418
Helixi248 – 2503
Turni253 – 2553
Beta strandi269 – 2746
Beta strandi277 – 29014
Beta strandi293 – 2986
Helixi303 – 3053
Beta strandi307 – 3104
Beta strandi314 – 3174
Helixi321 – 3255
Turni337 – 3393
Helixi342 – 3487
Helixi356 – 3583
Turni360 – 3634
Beta strandi376 – 3816
Beta strandi384 – 39714
Beta strandi400 – 4056
Helixi410 – 4123
Beta strandi414 – 4163
Helixi428 – 4314
Helixi445 – 4473
Helixi450 – 4567
Helixi464 – 4663
Beta strandi472 – 4743
Beta strandi480 – 4845
Beta strandi486 – 4883
Beta strandi492 – 5009
Beta strandi502 – 5098
Beta strandi510 – 5123
Helixi514 – 5163
Beta strandi518 – 5214
Helixi532 – 5365
Turni546 – 5494

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
1WJQNMR-A469-562[»]
1WJSNMR-A258-371[»]
3UT1X-ray2.05A228-551[»]
4FL6X-ray2.55A/B229-553[»]
4L59X-ray2.29A228-544[»]
ProteinModelPortaliQ96JM7.
SMRiQ96JM7. Positions 231-562, 705-762.

Miscellaneous databases

EvolutionaryTraceiQ96JM7.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati232 – 332101MBT 1
Add
BLAST
Repeati340 – 439100MBT 2
Add
BLAST
Repeati448 – 54396MBT 3
Add
BLAST
Domaini708 – 77265SAM
Add
BLAST

Sequence similaritiesi

Contains 3 MBT repeats.

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiNOG281100.
HOGENOMiHOG000231019.
HOVERGENiHBG071375.
InParanoidiQ96JM7.
OMAiEYQSFPY.
OrthoDBiEOG7FR7FT.
PhylomeDBiQ96JM7.
TreeFamiTF316498.

Family and domain databases

Gene3Di1.10.150.50. 1 hit.
InterProiIPR004092. Mbt.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view]
PfamiPF02820. MBT. 3 hits.
PF00536. SAM_1. 1 hit.
[Graphical view]
SMARTiSM00561. MBT. 3 hits.
SM00454. SAM. 1 hit.
[Graphical view]
SUPFAMiSSF47769. SSF47769. 1 hit.
PROSITEiPS51079. MBT. 3 hits.
PS50105. SAM_DOMAIN. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96JM7-1) [UniParc]FASTAAdd to Basket

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.

« Hide

MTESASSTSG QEFDVFSVMD WKDGVGTLPG SDLKFRVNEF GALEVITDEN    50
EMENVKKATA TTTWMVPTAQ EAPTSPPSSR PVFPPAYWTS PPGCPTVFSE 100
KTGMPFRLKD PVKVEGLQFC ENCCQYGNVD ECLSGGNYCS QNCARHIKDK 150
DQKEERDVEE DNEEEDPKCS RKKKPKLSLK ADTKEDGEER DDEMENKQDV 200
RILRGSQRAR RKRRGDSAVL KQGLPPKGKK AWCWASYLEE EKAVAVPAKL 250
FKEHQSFPYN KNGFKVGMKL EGVDPEHQSV YCVLTVAEVC GYRIKLHFDG 300
YSDCYDFWVN ADALDIHPVG WCEKTGHKLH PPKGYKEEEF NWQTYLKTCK 350
AQAAPKSLFE NQNITVIPSG FRVGMKLEAV DKKNPSFICV ATVTDMVDNR 400
FLVHFDNWDE SYDYWCEASS PHIHPVGWCK EHRRTLITPP GYPNVKHFSW 450
DKYLEETNSL PAPARAFKVK PPHGFQKKMK LEVVDKRNPM FIRVATVADT 500
DDHRVKVHFD GWNNCYDYWI DADSPDIHPV GWCSKTGHPL QPPLSPLELM 550
EASEHGGCST PGCKGIGHFK RARHLGPHSA ANCPYSEINL NKDRIFPDRL 600
SGEMPPASPS FPRNKRTDAN ESSSSPEIRD QHADDVKEDF EERTESEMRT 650
SHEARGAREE PTVQQAQRRS AVFLSFKSPI PCLPLRWEQQ SKLLPTVAGI 700
PASKVSKWST DEVSEFIQSL PGCEEHGKVF KDEQIDGEAF LLMTQTDIVK 750
IMSIKLGPAL KIFNSILMFK AAEKNSHNEL 780
Length:780
Mass (Da):88,337
Last modified:April 26, 2005 - v2
Checksum:i81F92D4423E25C84
GO
Isoform 2 (identifier: Q96JM7-2) [UniParc]FASTAAdd to Basket

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

Show »
Length:755
Mass (Da):85,757
Checksum:iCC4B216CF46941EC
GO

Sequence cautioni

The sequence BAB47427.1 differs from that shown. Reason: Erroneous initiation.

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti183 – 1831T → N.2 Publications
Corresponds to variant rs9388768 [ dbSNP | Ensembl ].
VAR_022368

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei72 – 9625Missing in isoform 2.
VSP_013508Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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.
CCDSiCCDS34537.1. [Q96JM7-1]
CCDS34538.1. [Q96JM7-2]
RefSeqiNP_001007103.1. NM_001007102.2. [Q96JM7-2]
NP_115814.1. NM_032438.2. [Q96JM7-1]
XP_005267218.1. XM_005267161.2. [Q96JM7-1]
XP_006715640.1. XM_006715577.1. [Q96JM7-1]
XP_006715641.1. XM_006715578.1. [Q96JM7-1]
UniGeneiHs.658051.

Genome annotation databases

EnsembliENST00000361794; 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]
GeneIDi84456.
KEGGihsa:84456.
UCSCiuc003qbt.3. human. [Q96JM7-1]
uc003qbu.3. human. [Q96JM7-2]

Polymorphism databases

DMDMi62900619.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
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 .
CCDSi CCDS34537.1. [Q96JM7-1 ]
CCDS34538.1. [Q96JM7-2 ]
RefSeqi NP_001007103.1. NM_001007102.2. [Q96JM7-2 ]
NP_115814.1. NM_032438.2. [Q96JM7-1 ]
XP_005267218.1. XM_005267161.2. [Q96JM7-1 ]
XP_006715640.1. XM_006715577.1. [Q96JM7-1 ]
XP_006715641.1. XM_006715578.1. [Q96JM7-1 ]
UniGenei Hs.658051.

3D structure databases

Select the link destinations:
PDBe
RCSB PDB
PDBj
Links Updated
Entry Method Resolution (Å) Chain Positions PDBsum
1WJQ NMR - A 469-562 [» ]
1WJS NMR - A 258-371 [» ]
3UT1 X-ray 2.05 A 228-551 [» ]
4FL6 X-ray 2.55 A/B 229-553 [» ]
4L59 X-ray 2.29 A 228-544 [» ]
ProteinModelPortali Q96JM7.
SMRi Q96JM7. Positions 231-562, 705-762.
ModBasei Search...

Protein-protein interaction databases

BioGridi 124091. 6 interactions.
IntActi Q96JM7. 6 interactions.
MINTi MINT-1623804.
STRINGi 9606.ENSP00000354526.

Chemistry

BindingDBi Q96JM7.
ChEMBLi CHEMBL1287623.

PTM databases

PhosphoSitei Q96JM7.

Polymorphism databases

DMDMi 62900619.

Proteomic databases

MaxQBi Q96JM7.
PaxDbi Q96JM7.
PRIDEi Q96JM7.

Protocols and materials databases

DNASUi 84456.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000361794 ; 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 ]
GeneIDi 84456.
KEGGi hsa:84456.
UCSCi uc003qbt.3. human. [Q96JM7-1 ]
uc003qbu.3. human. [Q96JM7-2 ]

Organism-specific databases

CTDi 84456.
GeneCardsi GC06P130381.
HGNCi HGNC:23035. L3MBTL3.
HPAi HPA053035.
neXtProti NX_Q96JM7.
PharmGKBi PA134943930.
HUGEi Search...
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG281100.
HOGENOMi HOG000231019.
HOVERGENi HBG071375.
InParanoidi Q96JM7.
OMAi EYQSFPY.
OrthoDBi EOG7FR7FT.
PhylomeDBi Q96JM7.
TreeFami TF316498.

Miscellaneous databases

ChiTaRSi L3MBTL3. human.
EvolutionaryTracei Q96JM7.
GenomeRNAii 84456.
NextBioi 74241.
PROi Q96JM7.

Gene expression databases

ArrayExpressi Q96JM7.
Bgeei Q96JM7.
CleanExi HS_L3MBTL3.
Genevestigatori Q96JM7.

Family and domain databases

Gene3Di 1.10.150.50. 1 hit.
InterProi IPR004092. Mbt.
IPR001660. SAM.
IPR013761. SAM/pointed.
IPR021129. SAM_type1.
[Graphical view ]
Pfami PF02820. MBT. 3 hits.
PF00536. SAM_1. 1 hit.
[Graphical view ]
SMARTi SM00561. MBT. 3 hits.
SM00454. SAM. 1 hit.
[Graphical view ]
SUPFAMi SSF47769. SSF47769. 1 hit.
PROSITEi PS51079. MBT. 3 hits.
PS50105. SAM_DOMAIN. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  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. 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.

Entry informationi

Entry nameiLMBL3_HUMAN
AccessioniPrimary (citable) accession number: Q96JM7
Secondary accession number(s): Q4VXE1, Q5VUM9, Q6P9B5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: April 26, 2005
Last sequence update: April 26, 2005
Last modified: July 9, 2014
This is version 112 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (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.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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