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Q13951

- PEBB_HUMAN

UniProt

Q13951 - PEBB_HUMAN

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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

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. sequence-specific DNA binding transcription factor activity Source: ProtInc
  3. 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
Complete GO annotation...

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-KW
Complete GO annotation...

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

BgeeiQ13951.
CleanExiHS_CBFB.
ExpressionAtlasiQ13951. baseline and differential.
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. 19 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.
GeneTreeiENSGT00390000018132.
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

        10         20         30         40         50
MPRVVPDQRS KFENEEFFRK LSRECEIKYT GFRDRPHEER QARFQNACRD
60 70 80 90 100
GRSEIAFVAT GTNLSLQFFP ASWQGEQRQT PSREYVDLER EAGKVYLKAP
110 120 130 140 150
MILNGVCVIW KGWIDLQRLD GMGCLEFDEE RAQQEDALAQ QAFEEARRRT
160 170 180
REFEDRDRSH REEMEVRVSQ LLAVTGKKTT RP
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. 19 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.
GeneTreei ENSGT00390000018132.
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

Bgeei Q13951.
CleanExi HS_CBFB.
ExpressionAtlasi Q13951. baseline and differential.
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

« Hide 'large scale' publications
  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 29, 2014
This is version 139 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