Reviewed,
UniProtKB/Swiss-Prot P42568 (AF9_HUMAN)
Last modified
June 16, 2009.
Version 69.
History...
Clusters with 100%,
90%,
50% identity |
Documents (3) |
Third-party data |
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Names and origin
| Protein names | Recommended 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 |
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| Organism | Homo sapiens (Human) | ||||
| Taxonomic identifier | 9606 [NCBI] | ||||
| Taxonomic lineage | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Protein attributes
| Sequence length | 568 AA. |
| Sequence status | Complete. |
| Sequence processing | The displayed sequence is not processed. |
| Protein existence | Evidence at protein level. |
General annotation (Comments)
| Subunit structure | |
| 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. |
Ontologies
| Keywords | |
|---|---|
| Biological process | Transcription Transcription regulation |
| Cellular component | Nucleus |
| Coding sequence diversity | Chromosomal rearrangement |
| Disease | Proto-oncogene |
| Molecular function | Activator |
| PTM | Phosphoprotein |
| Gene Ontology (GO) | |
| Biological process | regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcriptionInferred from electronic annotation. Source: UniProtKB-KW |
| Cellular component | cytoplasm Inferred from direct assay. Source: HPA nucleus Ref.1Inferred from direct assay. Source: HPA |
| Complete GO annotation... | |
Sequence annotation (Features)
| Feature key | Position(s) | Length | Description | Graphical view | Feature identifier | ||||
Molecule processing | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Chain | 1 – 568 | 568 | Protein AF-9 | PRO_0000215921 | |||||
Regions | |||||||||
| Domain | 8 – 112 | 105 | YEATS | ||||||
| Motif | 295 – 300 | 6 | Nuclear localization signal Potential | ||||||
| Compositional bias | 149 – 194 | 46 | Poly-Ser | ||||||
| Compositional bias | 383 – 391 | 9 | Poly-Ser | ||||||
| Compositional bias | 466 – 469 | 4 | Poly-Pro | ||||||
Sites | |||||||||
| Site | 375 | 1 | MLL fusion point (in acute myeloid leukemia patient CO) | ||||||
| Site | 481 | 1 | MLL fusion point (in acute myeloid leukemia patient F1) | ||||||
Amino acid modifications | |||||||||
| Modified residue | 288 | 1 | Phosphoserine Ref.7 | ||||||
| Modified residue | 294 | 1 | Phosphoserine Ref.7 Ref.6 | ||||||
| Modified residue | 412 | 1 | Phosphoserine Ref.7 Ref.6 | ||||||
| Modified residue | 419 | 1 | Phosphoserine Ref.7 Ref.6 | ||||||
| Modified residue | 429 | 1 | Phosphoserine Ref.7 Ref.6 | ||||||
| Modified residue | 483 | 1 | Phosphoserine Ref.7 Ref.6 | ||||||
Experimental info | |||||||||
| Sequence conflict | 6 | 1 | A → S in AAA58361. Ref.1 | ||||||
Sequences
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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. 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. 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. |
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. | |
| IPI | IPI00000033. |
| PIR | I39411. |
| RefSeq | NP_004520.2. |
| UniGene | Hs.591085 |
3D structure databases | |
| ModBase | Search... |
Protein-protein interaction databases | |
| IntAct | P42568. 4 interactions. |
PTM databases | |
| PhosphoSite | P42568. |
Proteomic databases | |
| PRIDE | P42568. |
Genome annotation databases | |
| Ensembl | ENSG00000171843. Homo sapiens. [Contig view] |
| GeneID | 4300. |
| KEGG | hsa:4300. |
Organism-specific databases | |
| GeneCards | GC09M020334. |
| H-InvDB | HIX0025733. |
| HGNC | HGNC:7136. MLLT3. |
| HPA | HPA001824. |
| MIM | 159558. gene. |
| PharmGKB | PA30852. |
| GenAtlas | Search... |
Phylogenomic databases | |
| HOGENOM | P42568. |
| HOVERGEN | P42568. |
| OMA | P42568. DPNRSVH. |
Gene expression databases | |
| ArrayExpress | P42568. |
| Bgee | P42568. |
| CleanEx | HS_MLLT3. |
| GermOnline | ENSG00000171843. Homo sapiens. |
Family and domain databases | |
| InterPro | IPR005033. YEATS. [Graphical view] |
| PANTHER | PTHR23195. YEATS. 1 hit. |
| Pfam | PF03366. YEATS. 1 hit. [Graphical view] |
| PROSITE | PS51037. YEATS. 1 hit. [Graphical view] |
| ProtoNet | Search... |
Other Resources | |
| SOURCE | Search... |
Entry information
| Entry name | AF9_HUMAN | ||||||||
| Accession | Primary (citable) accession number: P42568 Secondary accession number(s): B1AMQ2 | ||||||||
| Entry history |
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| Entry status | Reviewed (UniProtKB/Swiss-Prot) | ||||||||
| Annotation project | HPI (Human Proteome Initiative) | ||||||||
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 |

Clusters with


