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Reviewed, UniProtKB/Swiss-Prot P42568 (AF9_HUMAN)

Last modified June 16, 2009. Version 69. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (3) | Third-party data | Customize display text xml rdf/xml gff fasta
Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents

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Names and origin

Protein namesRecommended name:
    Protein AF-9
Alternative name(s):
    ALL1 fused gene from chromosome 9 protein
    Myeloid/lymphoid or mixed-lineage leukemia translocated to chromosome 3 protein
    YEATS domain-containing protein 3
Gene names
Name: MLLT3
Synonyms: AF9, YEATS3
OrganismHomo sapiens (Human)
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Protein attributes

Sequence length568 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is not processed.
Protein existenceEvidence at protein level.

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General annotation (Comments)

Subunit structure

Interacts with BCOR. Interacts with CBX8. Ref.4 Ref.5

Subcellular location

Nucleus By similarity.

Involvement in disease

A chromosomal aberration involving MLLT3 is associated with acute leukemias. Translocation t(9;11)(p22;q23) with MLL/HRX. The result is a rogue activator protein.

Sequence similarities

Contains 1 YEATS domain.

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Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityChromosomal rearrangement
   DiseaseProto-oncogene
   Molecular functionActivator
   PTMPhosphoprotein
Gene Ontology (GO)
   Biological processregulation of transcription, DNA-dependent

Inferred from electronic annotation. Source: UniProtKB-KW

transcription

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular componentcytoplasm

Inferred from direct assay. Source: HPA

nucleus Ref.1

Inferred from direct assay. Source: HPA

Complete GO annotation...

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Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 568568Protein AF-9
PRO_0000215921

Regions

Domain8 – 112105YEATS
Motif295 – 3006Nuclear localization signal Potential
Compositional bias149 – 19446Poly-Ser
Compositional bias383 – 3919Poly-Ser
Compositional bias466 – 4694Poly-Pro

Sites

Site3751MLL fusion point (in acute myeloid leukemia patient CO)
Site4811MLL fusion point (in acute myeloid leukemia patient F1)

Amino acid modifications

Modified residue2881Phosphoserine Ref.7
Modified residue2941Phosphoserine Ref.7 Ref.6
Modified residue4121Phosphoserine Ref.7 Ref.6
Modified residue4191Phosphoserine Ref.7 Ref.6
Modified residue4291Phosphoserine Ref.7 Ref.6
Modified residue4831Phosphoserine Ref.7 Ref.6

Experimental info

Sequence conflict61A → S in AAA58361. Ref.1

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Sequences

Sequence LengthMass (Da)Tools
P42568-1 [UniParc].

Last modified November 25, 2008. Version 2.
Checksum: 0A020B7FB34132F9

FASTA56863,351
        10         20         30         40         50         60 
MASSCAVQVK LELGHRAQVR KKPTVEGFTH DWMVFVRGPE HSNIQHFVEK VVFHLHESFP 

        70         80         90        100        110        120 
RPKRVCKDPP YKVEESGYAG FILPIEVYFK NKEEPRKVRF DYDLFLHLEG HPPVNHLRCE 

       130        140        150        160        170        180 
KLTFNNPTED FRRKLLKAGG DPNRSIHTSS SSSSSSSSSS SSSSSSSSSS SSSSSSSSSS 

       190        200        210        220        230        240 
SSSSSSSSSS TSFSKPHKLM KEHKEKPSKD SREHKSAFKE PSRDHNKSSK ESSKKPKENK 

       250        260        270        280        290        300 
PLKEEKIVPK MAFKEPKPMS KEPKPDSNLL TITSGQDKKA PSKRPPISDS EELSAKKRKK 

       310        320        330        340        350        360 
SSSEALFKSF SSAPPLILTC SADKKQIKDK SHVKMGKVKI ESETSEKKKS TLPPFDDIVD 

       370        380        390        400        410        420 
PNDSDVEENI SSKSDSEQPS PASSSSSSSS SFTPSQTRQQ GPLRSIMKDL HSDDNEEESD 

       430        440        450        460        470        480 
EVEDNDNDSE MERPVNRGGS RSRRVSLSDG SDSESSSASS PLHHEPPPPL LKTNNNQILE 

       490        500        510        520        530        540 
VKSPIKQSKS DKQIKNGECD KAYLDELVEL HRRLMTLRER HILQQIVNLI EETGHFHITN 

       550        560 
TTFDFDLCSL DKTTVRKLQS YLETSGTS

« Hide

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References

« Hide 'large scale' references
[1]"Genes on chromosomes 4, 9, and 19 involved in 11q23 abnormalities in acute leukemia share sequence homology and/or common motifs."
Nakamura T., Alder H., Gu Y., Prasad R., Canaani O., Kamada N., Gale R.P., Lange B., Crist W.M., Nowell P.C., Croce C.M., Canaani E.
Proc. Natl. Acad. Sci. U.S.A. 90:4631-4635(1993) [PubMed: 8506309] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]"DNA sequence and analysis of human chromosome 9."
Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L. expand/collapse author list , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
Nature 429:369-374(2004) [PubMed: 15164053] [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]"BCoR, a novel corepressor involved in BCL-6 repression."
Huynh K.D., Fischle W., Verdin E., Bardwell V.J.
Genes Dev. 14:1810-1823(2000) [PubMed: 10898795] [Abstract]
Cited for: INTERACTION WITH BCOR.
[5]"The ENL moiety of the childhood leukemia-associated MLL-ENL oncoprotein recruits human Polycomb 3."
Garcia-Cuellar M.P., Zilles O., Schreiner S.A., Birke M., Winkler T.H., Slany R.K.
Oncogene 20:411-419(2001) [PubMed: 11313972] [Abstract]
Cited for: INTERACTION WITH CBX8.
[6]"Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."
Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R., Greff Z., Keri G., Stemmann O., Mann M.
Mol. Cell 31:438-448(2008) [PubMed: 18691976] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-294; SER-412; SER-419; SER-429 AND SER-483, MASS SPECTROMETRY.
[7]"A quantitative atlas of mitotic phosphorylation."
Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P.
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-288; SER-294; SER-412; SER-419; SER-429 AND SER-483, MASS SPECTROMETRY.
+Additional computationally mapped references.

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Cross-references

Sequence databases

L13744 mRNA. Translation: AAA58361.1.
AL512635, AL354879, AL513498 Genomic DNA. Translation: CAH70705.1.
AL354879, AL512635, AL513498 Genomic DNA. Translation: CAI14771.1.
CH471071 Genomic DNA. Translation: EAW58631.1.
IPIIPI00000033.
PIRI39411.
RefSeqNP_004520.2.
UniGeneHs.591085

3D structure databases

ModBaseSearch...

Protein-protein interaction databases

IntActP42568. 4 interactions.

PTM databases

PhosphoSiteP42568.

Proteomic databases

PRIDEP42568.

Genome annotation databases

EnsemblENSG00000171843. Homo sapiens. [Contig view]
GeneID4300.
KEGGhsa:4300.

Organism-specific databases

GeneCardsGC09M020334.
H-InvDBHIX0025733.
HGNCHGNC:7136. MLLT3.
HPAHPA001824.
MIM159558. gene.
PharmGKBPA30852.
GenAtlasSearch...

Phylogenomic databases

HOGENOMP42568.
HOVERGENP42568.
OMAP42568. DPNRSVH.

Gene expression databases

ArrayExpressP42568.
BgeeP42568.
CleanExHS_MLLT3.
GermOnlineENSG00000171843. Homo sapiens.

Family and domain databases

InterProIPR005033. YEATS.
[Graphical view]
PANTHERPTHR23195. YEATS. 1 hit.
PfamPF03366. YEATS. 1 hit.
[Graphical view]
PROSITEPS51037. YEATS. 1 hit.
[Graphical view]
ProtoNetSearch...

Other Resources

SOURCESearch...

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Entry information

Entry nameAF9_HUMAN
AccessionPrimary (citable) accession number: P42568
Secondary accession number(s): B1AMQ2
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1995
Last sequence update: November 25, 2008
Last modified: June 16, 2009
This is version 69 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation projectHPI (Human Proteome Initiative)

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Relevant documents

Human chromosome 9

Human chromosome 9: entries, gene names and cross-references to MIM

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

SIMILARITY comments

Index of protein domains and families

Names and origin · Protein attributes · General annotation (Comments) · Ontologies · Sequence annotation (Features) · Sequences · References · Web resources · Cross-references · Entry information · Relevant documents