ExPASy logo ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot
Notice: This page will be replaced with www.uniprot.org. Please send us your feedback!
Search for

UniProtKB/Swiss-Prot entry Q9Y468


[Entry info] [Name and origin] [References] [Comments] [Cross-references] [Keywords] [Features] [Sequence] [Tools]

Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents.
Entry information
Entry name LMBL1_HUMAN
Primary accession number Q9Y468
Secondary accession numbers Q5H8Y8 Q8IUV7 Q9H1E6 Q9H1G5 Q9UG06 Q9UJB9 Q9Y4C9
Integrated into Swiss-Prot on September 19, 2002
Sequence was last modified on September 19, 2002 (Sequence version 2)
Annotations were last modified on    July 22, 2008 (Entry version 81)
Name and origin of the protein
Protein name Lethal(3)malignant brain tumor-like protein
Synonyms L(3)mbt-like
L(3)mbt protein homolog
H-l(3)mbt protein
H-L(3)MBT
L3MBTL1
Gene name
Name: L3MBTL
Synonyms: KIAA0681, L3MBT, L3MBTL1
From
Homo sapiens (Human) [TaxID: 9606] 
Taxonomy Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.
Protein existence 1: Evidence at protein level;
References
[1]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2).
TISSUE=Brain;
DOI=10.1038/sj.onc.1202732; PubMed=10445843 [NCBI, ExPASy, EBI, Israel, Japan]
Koga H., Matsui S., Hirota T., Takebayashi S., Okumura K., Saya H.;
"A human homolog of Drosophila lethal(3)malignant brain tumor (l(3)mbt) protein associates with condensed mitotic chromosomes.";
Oncogene 18:3799-3809(1999).
[2]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
TISSUE=Uterus;
The German cDNA consortium;
Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases.
[3]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/414865a; PubMed=11780052 [NCBI, ExPASy, EBI, Israel, Japan]
Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.;
"The DNA sequence and comparative analysis of human chromosome 20.";
Nature 414:865-871(2001).
[4]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
TISSUE=Brain;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 215-772 (ISOFORM 4).
TISSUE=Brain;
DOI=10.1093/dnares/5.3.169; PubMed=9734811 [NCBI, ExPASy, EBI, Israel, Japan]
Ishikawa K., Nagase T., Suyama M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O.;
"Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.";
DNA Res. 5:169-176(1998).
[6]
INTERACTION WITH ETV6.
DOI=10.1074/jbc.M300592200; PubMed=12588862 [NCBI, ExPASy, EBI, Israel, Japan]
Boccuni P., MacGrogan D., Scandura J.M., Nimer S.D.;
"The human L(3)MBT Polycomb group protein is a transcriptional repressor and interacts physically and functionally with TEL (ETV6).";
J. Biol. Chem. 278:15412-15420(2003).
[7]
X-RAY CRYSTALLOGRAPHY (1.55 ANGSTROMS) OF 197-527.
DOI=10.1016/S0969-2126(03)00127-8; PubMed=12842041 [NCBI, ExPASy, EBI, Israel, Japan]
Wang W.K., Tereshko V., Boccuni P., MacGrogan D., Nimer S.D., Patel D.J.;
"Malignant brain tumor repeats: a three-leaved propeller architecture with ligand/peptide binding pockets.";
Structure 11:775-789(2003).
Comments
  • FUNCTION: 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. Participates in the ETV6-mediated repression. Probably plays a role in cell proliferation. Overexpression induces multinucleated cells, suggesting that it is required to accomplish normal mitosis.
  • SUBUNIT: Homodimer. Interacts with ETV6.
  • INTERACTION:
    P10412:HIST1H1E; NbExp=3; IntAct=EBI-1265089, EBI-358163;
    P62805:HIST1H4A; NbExp=2; IntAct=EBI-1265089, EBI-302023;
  • SUBCELLULAR LOCATION: Nucleus. Note=Excluded from the nucleolus. Does not colocalizes with the PcG protein BMI1, suggesting that these two proteins do not belong to the same complex.
  • ALTERNATIVE PRODUCTS: 4 named isoforms [FASTA] produced by alternative splicing.
    Name1
    Synonymsmbt-I
    Isoform IDQ9Y468-1
    This is the isoform sequence displayed in this entry.
    Name2
    Synonymsmbt-II
    Isoform IDQ9Y468-2
    Features which should be applied to build the isoform sequence: VSP_003902.
    Name3
    Isoform IDQ9Y468-3
    Features which should be applied to build the isoform sequence: VSP_003901, VSP_003902.
    Name4
    Isoform IDQ9Y468-4
    Features which should be applied to build the isoform sequence: VSP_003903.
  • TISSUE SPECIFICITY: Widely expressed. Expression is reduced in colorectal cancer cell line SW480 and promyelocytic leukemia cell line HL-60.
  • DEVELOPMENTAL STAGE: In interphase cells, it is scattered throughout the nucleoplasm. In mitotic cells, it strongly associates with condensed chromosomes from the prophase to telophase.
  • SIMILARITY: Contains 1 C2HC-type zinc finger.
  • SIMILARITY: Contains 3 MBT repeats.
  • SEQUENCE CAUTION:
    • Sequence=CAC18508.1; Type=Erroneous gene model prediction;
Copyright
Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms. Distributed under the Creative Commons Attribution-NoDerivs License.
Cross-references
Sequence databases
EMBL
U89358; AAC69438.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL110279; CAB53714.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL031681; CAI23043.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
Z98752; CAI23043.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
Z98752; CAC16800.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
Z98752; CAC18508.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
Z98752; CAI42318.1; -; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AL031681; CAI42318.1; JOINED; Genomic_DNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
BC039820; AAH39820.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
AB014581; BAA31656.1; -; mRNA.[EMBL / GenBank / DDBJ] [CoDingSequence]
PIR T14794; T14794.
RefSeq NP_056293.4; -.
UniGene Hs.300863
3D structure databases
PDB
1OYX; X-ray; 1.85 A; A/B/C=197-527.[ExPASy / RCSB / EBI]
1OZ2; X-ray; 1.55 A; A=197-527.[ExPASy / RCSB / EBI]
1OZ3; X-ray; 1.85 A; A/B/C=197-527.[ExPASy / RCSB / EBI]
2PQW; X-ray; 2.00 A; A=200-522.[ExPASy / RCSB / EBI]
2RHI; X-ray; 1.66 A; A=193-526.[ExPASy / RCSB / EBI]
2RHX; X-ray; 2.10 A; A=193-526.[ExPASy / RCSB / EBI]
2RJC; X-ray; 2.00 A; A/B/C=200-530.[ExPASy / RCSB / EBI]
2RJD; X-ray; 1.65 A; A=200-530.[ExPASy / RCSB / EBI]
2RJE; X-ray; 1.86 A; A/B/C=200-530.[ExPASy / RCSB / EBI]
2RJF; X-ray; 2.05 A; A/C/E=200-530.[ExPASy / RCSB / EBI]
Detailed list of linked structures.
PDBsum 1OYX; -.
1OZ2; -.
1OZ3; -.
2PQW; -.
2RHI; -.
2RHX; -.
2RJC; -.
2RJD; -.
2RJE; -.
2RJF; -.
ModBase Q9Y468.
Protein-protein interaction databases
IntAct Q9Y468; -.
Organism-specific databases
H-InvDB HIX0015827; -.
HIX0017445; -.
HGNC HGNC:15905; L3MBTL.
GenAtlas L3MBTL.
MIM 608802; gene. [NCBI / EBI]
PharmGKB PA30260; -.
GeneCards Q9Y468.
HUGE KIAA0681.
Gene expression databases
ArrayExpress Q9Y468; -.
CleanEx HS_L3MBTL; -.
GermOnline ENSG00000185513; Homo sapiens.
Ontologies
GO
GO:0005515; Molecular function: protein binding (inferred from physical interaction from IntAct).
QuickGo view.
Family and domain databases
InterPro IPR004092; Mbt.
IPR013761; SAM_type.
IPR002515; Znf_C2HC.
Graphical view of domain structure.
Gene3D G3DSA:1.10.150.50; SAM_type; 1.
Pfam PF02820; MBT; 3.
PF01530; zf-C2HC; 1.
Pfam graphical view of domain structure.
SMART SM00561; MBT; 3.
SMART graphical view of domain structure.
PROSITE PS51079; MBT; 3.
PROSITE graphical view of domain structure (profiles).
BLOCKS Q9Y468.
Genome annotation databases
Ensembl ENSG00000185513; Homo sapiens. [Contig view]
GeneID 26013; -.
KEGG hsa:26013; -.
Phylogenomic databases
HOVERGEN Q9Y468; -.
Other
SOURCE L3MBTL; Homo sapiens.
ProtoNet Q9Y468.
UniRef View cluster of proteins with at least 50% / 90% / 100% identity.
Keywords
3D-structure; Alternative splicing; Chromatin regulator; DNA-binding; Metal-binding; Nucleus; Repeat; Repressor; Transcription; Transcription regulation; Zinc; Zinc-finger.
Features
SEVIEWER logo Feature table viewer FT aligner logo Feature aligner
KeyFrom   To Length Description FTId
CHAIN   1   772  772     Lethal(3)malignant brain tumor-like protein. PRO_0000084452
REPEAT   206   306  101     MBT 1. 
REPEAT   314   413  100     MBT 2. 
REPEAT   422   517  96     MBT 3. 
ZN_FING   552   578  27     C2HC-type. 
VAR_SEQ   1   348        Missing (in isoform 3). VSP_003901
VAR_SEQ   709   772        ARIVRVTHVSGKTLVWTVAQLGDLVCSDHLQEGKGILETG VHSLLCSLPTHLLAKLSFASDSQY -> VRCKCRVGDRAGVTVLKTAGSRCPPQRHFC (in isoform 2 and isoform 3). VSP_003902
VAR_SEQ   709   772        ARIVRVTHVSGKTLVWTVAQLGDLVCSDHLQEGKGILETG VHSLLCSLPTHLLAKLSFASDSQY -> MIDGEAFLLLTQADIVKIMSVKLGPALKIYNAILMFKNA DDTLK (in isoform 4). VSP_003903
CONFLICT   49    49        S -> T (in Ref. 4; AAH39820). 
CONFLICT   305   305        P -> L (in Ref. 1; AAC69438). 
CONFLICT   320   321        LR -> MC (in Ref. 1; AAC69438). 
CONFLICT   332   332        L -> M (in Ref. 1; AAC69438). 
CONFLICT   595   595        S -> P (in Ref. 1; AAC69438). 
HELIX   208   215  8      
HELIX   222   224  3      
HELIX   227   230  4      
STRAND   243   248  6      
STRAND   251   264  14      
STRAND   267   272  6      
HELIX   277   279  3      
STRAND   281   284  4      
HELIX   295   299  5      
HELIX   311   313  3      
HELIX   316   323  8      
HELIX   330   332  3      
STRAND   350   354  5      
STRAND   362   371  10      
STRAND   374   379  6      
HELIX   384   386  3      
STRAND   388   390  3      
HELIX   402   406  5      
HELIX   424   430  7      
HELIX   438   440  3      
STRAND   454   458  5      
STRAND   466   474  9      
STRAND   476   483  8      
HELIX   488   490  3      
STRAND   492   495  4      
HELIX   506   510  5      
Sequence information
Length: 772 AA [This is the length of the unprocessed precursor] Molecular weight: 85917 Da [This is the MW of the unprocessed precursor] CRC64: 117B03A628826B29 [This is a checksum on the sequence]
        10         20         30         40         50         60 
MRRREGHGTD SEMGQGPVRE SQSSDPPALQ FRISEYKPLN MAGVEQPPSP ELRQEGVTEY 

        70         80         90        100        110        120 
EDGGAPAGDG EAGPQQAEDH PQNPPEDPNQ DPPEDDSTCQ CQACGPHQAA GPDLGSSNDG 

       130        140        150        160        170        180 
CPQLFQERSV IVENSSGSTS ASELLKPMKK RKRREYQSPS EEESEPEAME KQEEGKDPEG 

       190        200        210        220        230        240 
QPTASTPESE EWSSSQPATG EKKECWSWES YLEEQKAITA PVSLFQDSQA VTHNKNGFKL 

       250        260        270        280        290        300 
GMKLEGIDPQ HPSMYFILTV AEVCGYRLRL HFDGYSECHD FWVNANSPDI HPAGWFEKTG 

       310        320        330        340        350        360 
HKLQPPKGYK EEEFSWSQYL RSTRAQAAPK HLFVSQSHSP PPLGFQVGMK LEAVDRMNPS 

       370        380        390        400        410        420 
LVCVASVTDV VDSRFLVHFD NWDDTYDYWC DPSSPYIHPV GWCQKQGKPL TPPQDYPDPD 

       430        440        450        460        470        480 
NFCWEKYLEE TGASAVPTWA FKVRPPHSFL VNMKLEAVDR RNPALIRVAS VEDVEDHRIK 

       490        500        510        520        530        540 
IHFDGWSHGY DFWIDADHPD IHPAGWCSKT GHPLQPPLGP REPSSASPGG CPPLSYRSLP 

       550        560        570        580        590        600 
HTRTSKYSFH HRKCPTPGCD GSGHVTGKFT AHHCLSGCPL AERNQSRLKA ELSDSEASAR 

       610        620        630        640        650        660 
KKNLSGFSPR KKPRHHGRIG RPPKYRKIPQ EDFQTLTPDV VHQSLFMSAL SAHPDRSLSV 

       670        680        690        700        710        720 
CWEQHCKLLP GVAGISASTV AKWTIDEVFG FVQTLTGCED QARLFKDEAR IVRVTHVSGK 

       730        740        750        760        770 
TLVWTVAQLG DLVCSDHLQE GKGILETGVH SLLCSLPTHL LAKLSFASDS QY 

Q9Y468 in FASTA format

View entry in original UniProtKB/Swiss-Prot format
View entry in raw text format (no links)
Report form for errors/updates in this UniProtKB/Swiss-Prot entry

BLAST logo BLAST submission on ExPASy/SIB
or at NCBI (USA)
Tools Sequence analysis tools: ProtParam, ProtScale, Compute pI/Mw, PeptideMass, PeptideCutter, Dotlet (Java)
PROSITE logo ScanProsite, MotifScan SWISS-MODEL Submit a homology modeling request to SWISS-MODEL
NPSA logo NPSA Sequence analysis tools

ExPASy logo ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot
 Hosted by ca flag CBR Canada Mirror sites: Australia  Brazil  China  Korea  Switzerland
Notice: This page will be replaced with www.uniprot.org. Please send us your feedback!