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Q13951

- PEBB_HUMAN

UniProt

Q13951 - PEBB_HUMAN

Protein

Core-binding factor subunit beta

Gene

CBFB

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 138 (01 Oct 2014)
      Sequence version 2 (01 Nov 1997)
      Previous versions | rss
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    Functioni

    CBF binds to the core site, 5'-PYGPYGGT-3', of a number of enhancers and promoters, including murine leukemia virus, polyomavirus enhancer, T-cell receptor enhancers, LCK, IL3 and GM-CSF promoters. CBFB enhances DNA binding by RUNX1.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sitei165 – 1662Breakpoint for translocation to form CBF-beta-MYH11 oncogene in AML, subtype M4EO

    GO - Molecular functioni

    1. DNA binding Source: Ensembl
    2. protein binding Source: UniProtKB
    3. sequence-specific DNA binding transcription factor activity Source: ProtInc
    4. transcription coactivator activity Source: InterPro

    GO - Biological processi

    1. cell maturation Source: Ensembl
    2. definitive hemopoiesis Source: Ensembl
    3. lymphocyte differentiation Source: Ensembl
    4. myeloid cell differentiation Source: Ensembl
    5. osteoblast differentiation Source: Ensembl
    6. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    7. transcription from RNA polymerase II promoter Source: ProtInc

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Core-binding factor subunit beta
    Short name:
    CBF-beta
    Alternative name(s):
    Polyomavirus enhancer-binding protein 2 beta subunit
    Short name:
    PEA2-beta
    Short name:
    PEBP2-beta
    SL3-3 enhancer factor 1 subunit beta
    SL3/AKV core-binding factor beta subunit
    Gene namesi
    Name:CBFB
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 16

    Organism-specific databases

    HGNCiHGNC:1539. CBFB.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. membrane Source: UniProtKB
    2. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Involvement in diseasei

    A chromosomal aberration involving CBFB is associated with acute myeloid leukemia of M4EO subtype. Pericentric inversion inv(16)(p13;q22). The inversion produces a fusion protein that consists of the 165 N-terminal residues of CBF-beta (PEPB2) with the tail region of MYH11.

    Keywords - Diseasei

    Proto-oncogene

    Organism-specific databases

    Orphaneti98829. Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22).
    PharmGKBiPA26114.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 182182Core-binding factor subunit betaPRO_0000058301Add
    BLAST

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ13951.
    PaxDbiQ13951.
    PeptideAtlasiQ13951.
    PRIDEiQ13951.

    PTM databases

    PhosphoSiteiQ13951.

    Expressioni

    Gene expression databases

    ArrayExpressiQ13951.
    BgeeiQ13951.
    CleanExiHS_CBFB.
    GenevestigatoriQ13951.

    Organism-specific databases

    HPAiHPA038852.

    Interactioni

    Subunit structurei

    Heterodimer with RUNX1. Interacts with COPRS By similarity. Found in a complex with PRMT5, RUNX1 and CBFB By similarity.By similarity

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    ASUNQ9NVM92EBI-718750,EBI-741429
    MAP2P111372EBI-718750,EBI-2682460
    RUNX1Q011962EBI-718750,EBI-925904
    vifP125045EBI-718750,EBI-779991From a different organism.

    Protein-protein interaction databases

    BioGridi107313. 15 interactions.
    DIPiDIP-36772N.
    IntActiQ13951. 21 interactions.
    MINTiMINT-1414765.
    STRINGi9606.ENSP00000415151.

    Structurei

    Secondary structure

    1
    182
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Helixi8 – 147
    Helixi16 – 194
    Beta strandi25 – 295
    Beta strandi33 – 353
    Helixi37 – 4913
    Beta strandi52 – 576
    Turni58 – 614
    Beta strandi65 – 673
    Helixi71 – 733
    Turni83 – 853
    Beta strandi86 – 916
    Beta strandi94 – 10310
    Beta strandi106 – 11510
    Turni116 – 1183
    Beta strandi119 – 1279
    Helixi129 – 1346
    Helixi137 – 14812

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1CL3NMR-A4-141[»]
    1E50X-ray2.60B/D/F/H2-135[»]
    1H9DX-ray2.60B/D2-135[»]
    4N9FX-ray3.300/6/F/L/N/R/a/c/i/k/o/u1-170[»]
    ProteinModelPortaliQ13951.
    SMRiQ13951. Positions 2-156.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiQ13951.

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the CBF-beta family.Curated

    Phylogenomic databases

    eggNOGiNOG245525.
    HOGENOMiHOG000008040.
    HOVERGENiHBG000541.
    InParanoidiQ13951.
    OMAiFFPANLH.
    PhylomeDBiQ13951.
    TreeFamiTF314675.

    Family and domain databases

    Gene3Di2.40.250.10. 1 hit.
    InterProiIPR003417. CBF_beta.
    [Graphical view]
    PANTHERiPTHR10276. PTHR10276. 1 hit.
    PfamiPF02312. CBF_beta. 1 hit.
    [Graphical view]
    SUPFAMiSSF50723. SSF50723. 1 hit.

    Sequences (2)i

    Sequence statusi: Complete.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q13951-1) [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

    MPRVVPDQRS KFENEEFFRK LSRECEIKYT GFRDRPHEER QARFQNACRD    50
    GRSEIAFVAT GTNLSLQFFP ASWQGEQRQT PSREYVDLER EAGKVYLKAP 100
    MILNGVCVIW KGWIDLQRLD GMGCLEFDEE RAQQEDALAQ QAFEEARRRT 150
    REFEDRDRSH REEMEVRVSQ LLAVTGKKTT RP 182
    Length:182
    Mass (Da):21,508
    Last modified:November 1, 1997 - v2
    Checksum:i20FB1CC05FBFE4FB
    GO
    Isoform 2 (identifier: Q13951-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         166-182: VRVSQLLAVTGKKTTRP → ARRQQDPSPGSNLGGGDDLKLR

    Note: Contains a phosphoserine at position 173.

    Show »
    Length:187
    Mass (Da):21,991
    Checksum:i277B13D2A2ED18E4
    GO

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti100 – 1001P → A in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036226

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei166 – 18217VRVSQ…KTTRP → ARRQQDPSPGSNLGGGDDLK LR in isoform 2. 1 PublicationVSP_036044Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF294326 mRNA. Translation: AAG01553.1.
    BT006862 mRNA. Translation: AAP35508.1.
    AK290462 mRNA. Translation: BAF83151.1.
    CH471092 Genomic DNA. Translation: EAW83067.1.
    CH471092 Genomic DNA. Translation: EAW83068.1.
    BC018509 mRNA. Translation: AAH18509.1.
    L20298 mRNA. Translation: AAA02868.1.
    CCDSiCCDS10827.1. [Q13951-1]
    CCDS45508.1. [Q13951-2]
    PIRiA56840.
    I59579.
    RefSeqiNP_001746.1. NM_001755.2. [Q13951-1]
    NP_074036.1. NM_022845.2. [Q13951-2]
    UniGeneiHs.460988.

    Genome annotation databases

    EnsembliENST00000290858; ENSP00000290858; ENSG00000067955. [Q13951-1]
    ENST00000412916; ENSP00000415151; ENSG00000067955. [Q13951-2]
    GeneIDi865.
    KEGGihsa:865.
    UCSCiuc002era.3. human. [Q13951-1]
    uc002erb.3. human. [Q13951-2]

    Polymorphism databases

    DMDMi2498753.

    Keywords - Coding sequence diversityi

    Alternative splicing, Chromosomal rearrangement, Polymorphism

    Cross-referencesi

    Web resourcesi

    Atlas of Genetics and Cytogenetics in Oncology and Haematology

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF294326 mRNA. Translation: AAG01553.1 .
    BT006862 mRNA. Translation: AAP35508.1 .
    AK290462 mRNA. Translation: BAF83151.1 .
    CH471092 Genomic DNA. Translation: EAW83067.1 .
    CH471092 Genomic DNA. Translation: EAW83068.1 .
    BC018509 mRNA. Translation: AAH18509.1 .
    L20298 mRNA. Translation: AAA02868.1 .
    CCDSi CCDS10827.1. [Q13951-1 ]
    CCDS45508.1. [Q13951-2 ]
    PIRi A56840.
    I59579.
    RefSeqi NP_001746.1. NM_001755.2. [Q13951-1 ]
    NP_074036.1. NM_022845.2. [Q13951-2 ]
    UniGenei Hs.460988.

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    Entry Method Resolution (Å) Chain Positions PDBsum
    1CL3 NMR - A 4-141 [» ]
    1E50 X-ray 2.60 B/D/F/H 2-135 [» ]
    1H9D X-ray 2.60 B/D 2-135 [» ]
    4N9F X-ray 3.30 0/6/F/L/N/R/a/c/i/k/o/u 1-170 [» ]
    ProteinModelPortali Q13951.
    SMRi Q13951. Positions 2-156.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 107313. 15 interactions.
    DIPi DIP-36772N.
    IntActi Q13951. 21 interactions.
    MINTi MINT-1414765.
    STRINGi 9606.ENSP00000415151.

    Chemistry

    ChEMBLi CHEMBL2093862.

    PTM databases

    PhosphoSitei Q13951.

    Polymorphism databases

    DMDMi 2498753.

    Proteomic databases

    MaxQBi Q13951.
    PaxDbi Q13951.
    PeptideAtlasi Q13951.
    PRIDEi Q13951.

    Protocols and materials databases

    DNASUi 865.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000290858 ; ENSP00000290858 ; ENSG00000067955 . [Q13951-1 ]
    ENST00000412916 ; ENSP00000415151 ; ENSG00000067955 . [Q13951-2 ]
    GeneIDi 865.
    KEGGi hsa:865.
    UCSCi uc002era.3. human. [Q13951-1 ]
    uc002erb.3. human. [Q13951-2 ]

    Organism-specific databases

    CTDi 865.
    GeneCardsi GC16P067063.
    HGNCi HGNC:1539. CBFB.
    HPAi HPA038852.
    MIMi 121360. gene.
    neXtProti NX_Q13951.
    Orphaneti 98829. Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22).
    PharmGKBi PA26114.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG245525.
    HOGENOMi HOG000008040.
    HOVERGENi HBG000541.
    InParanoidi Q13951.
    OMAi FFPANLH.
    PhylomeDBi Q13951.
    TreeFami TF314675.

    Miscellaneous databases

    ChiTaRSi CBFB. human.
    EvolutionaryTracei Q13951.
    GeneWikii CBFB.
    GenomeRNAii 865.
    NextBioi 3608.
    PROi Q13951.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q13951.
    Bgeei Q13951.
    CleanExi HS_CBFB.
    Genevestigatori Q13951.

    Family and domain databases

    Gene3Di 2.40.250.10. 1 hit.
    InterProi IPR003417. CBF_beta.
    [Graphical view ]
    PANTHERi PTHR10276. PTHR10276. 1 hit.
    Pfami PF02312. CBF_beta. 1 hit.
    [Graphical view ]
    SUPFAMi SSF50723. SSF50723. 1 hit.
    ProtoNeti Search...

    Publicationsi

    1. Liu P.P.
      Submitted (AUG-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
    2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Tissue: Brain.
    4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "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 1).
      Tissue: Eye.
    6. "Structure of the leukemia-associated human CBFB gene."
      Hajra A., Collins F.S.
      Genomics 26:571-579(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-26 (ISOFORMS 1/2).
    7. "Fusion between transcription factor CBF beta/PEBP2 beta and a myosin heavy chain in acute myeloid leukemia."
      Liu P., Tarle S.A., Hajra A., Claxton D.F., Marlton P., Freedman M., Siciliano M.J., Collins F.S.
      Science 261:1041-1044(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 8-182 (ISOFORM 1).
      Tissue: Brain.
    8. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-173 (ISOFORM 2), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    9. Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-173 (ISOFORM 2), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    10. "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: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-173 (ISOFORM 2), IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
      Tissue: Cervix carcinoma.
    11. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    12. "Structural basis for the heterodimeric interaction between the acute leukaemia-associated transcription factors AML1 and CBFbeta."
      Warren A.J., Bravo J., Williams R.L., Rabbitts T.H.
      EMBO J. 19:3004-3015(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 2-135 IN COMPLEX WITH RUNX1.
    13. "The leukemia-associated AML1 (Runx1) -- CBF beta complex functions as a DNA-induced molecular clamp."
      Bravo J., Li Z., Speck N.A., Warren A.J.
      Nat. Struct. Biol. 8:371-378(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 2-135 IN COMPLEX WITH RUNX1 AND DNA.
    14. "Molecular insights into PEBP2/CBF beta-SMMHC associated acute leukemia revealed from the structure of PEBP2/CBF beta."
      Goger M., Gupta V., Kim W.Y., Shigesada K., Ito Y., Werner M.H.
      Nat. Struct. Biol. 6:620-623(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: STRUCTURE BY NMR OF 4-141.
    15. Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-100.

    Entry informationi

    Entry nameiPEBB_HUMAN
    AccessioniPrimary (citable) accession number: Q13951
    Secondary accession number(s): A8K347, Q13124, Q9HCT2
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 1, 1997
    Last sequence update: November 1, 1997
    Last modified: October 1, 2014
    This is version 138 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 16
      Human chromosome 16: 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. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. PDB cross-references
      Index of Protein Data Bank (PDB) cross-references
    6. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3