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Q13951 (PEBB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 137. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (6) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Interactions·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:CBFB
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length182 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Nucleus Potential.

Involvement in disease

A chromosomal aberration involving CBFB is associated with acute myeloid leukemia of M4EO subtype. Pericentric inversion inv16(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.

Sequence similarities

Belongs to the CBF-beta family.

Binary interactions

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q13951-1)

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.
Isoform 2 (identifier: Q13951-2)

The sequence of this isoform differs from the canonical sequence as follows:
     166-182: VRVSQLLAVTGKKTTRP → ARRQQDPSPGSNLGGGDDLKLR
Note: Contains a phosphoserine at position 173.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 182182Core-binding factor subunit beta
PRO_0000058301

Sites

Site165 – 1662Breakpoint for translocation to form CBF-beta-MYH11 oncogene in AML, subtype M4EO

Natural variations

Alternative sequence166 – 18217VRVSQ…KTTRP → ARRQQDPSPGSNLGGGDDLK LR in isoform 2.
VSP_036044
Natural variant1001P → A in a breast cancer sample; somatic mutation. Ref.16
VAR_036226

Secondary structure

............................... 182
Helix Strand Turn

Details...

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified November 1, 1997. Version 2.
Checksum: 20FB1CC05FBFE4FB

FASTA18221,508
        10         20         30         40         50         60 
MPRVVPDQRS KFENEEFFRK LSRECEIKYT GFRDRPHEER QARFQNACRD GRSEIAFVAT 

        70         80         90        100        110        120 
GTNLSLQFFP ASWQGEQRQT PSREYVDLER EAGKVYLKAP MILNGVCVIW KGWIDLQRLD 

       130        140        150        160        170        180 
GMGCLEFDEE RAQQEDALAQ QAFEEARRRT REFEDRDRSH REEMEVRVSQ LLAVTGKKTT 


RP 

« Hide

Isoform 2 [UniParc].

Checksum: 277B13D2A2ED18E4
Show »

FASTA18721,991

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]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 (JUL-2005) to the EMBL/GenBank/DDBJ databases
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]Erratum
Hajra A., Collins F.S.
Genomics 38:107-107(1996) [PubMed] [Europe PMC] [Abstract]
[8]"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.
[9]"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.
[10]"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] [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]"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.
[12]"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[13]"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.
[14]"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.
[15]"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.
[16]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-100.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS10827.1. [Q13951-1]
CCDS45508.1. [Q13951-2]
PIRA56840.
I59579.
RefSeqNP_001746.1. NM_001755.2. [Q13951-1]
NP_074036.1. NM_022845.2. [Q13951-2]
UniGeneHs.460988.

3D structure databases

PDBe
RCSB-PDB
PDBj
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[»]
ProteinModelPortalQ13951.
SMRQ13951. Positions 2-156.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid107313. 15 interactions.
DIPDIP-36772N.
IntActQ13951. 21 interactions.
MINTMINT-1414765.
STRING9606.ENSP00000415151.

Chemistry

ChEMBLCHEMBL2093862.

PTM databases

PhosphoSiteQ13951.

Polymorphism databases

DMDM2498753.

Proteomic databases

MaxQBQ13951.
PaxDbQ13951.
PeptideAtlasQ13951.
PRIDEQ13951.

Protocols and materials databases

DNASU865.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000290858; ENSP00000290858; ENSG00000067955. [Q13951-1]
ENST00000412916; ENSP00000415151; ENSG00000067955. [Q13951-2]
GeneID865.
KEGGhsa:865.
UCSCuc002era.3. human. [Q13951-1]
uc002erb.3. human. [Q13951-2]

Organism-specific databases

CTD865.
GeneCardsGC16P067063.
HGNCHGNC:1539. CBFB.
HPAHPA038852.
MIM121360. gene.
neXtProtNX_Q13951.
Orphanet98829. Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22).
PharmGKBPA26114.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG245525.
HOGENOMHOG000008040.
HOVERGENHBG000541.
InParanoidQ13951.
OMAFFPANLH.
PhylomeDBQ13951.
TreeFamTF314675.

Gene expression databases

ArrayExpressQ13951.
BgeeQ13951.
CleanExHS_CBFB.
GenevestigatorQ13951.

Family and domain databases

Gene3D2.40.250.10. 1 hit.
InterProIPR003417. CBF_beta.
[Graphical view]
PANTHERPTHR10276. PTHR10276. 1 hit.
PfamPF02312. CBF_beta. 1 hit.
[Graphical view]
SUPFAMSSF50723. SSF50723. 1 hit.
ProtoNetSearch...

Other

ChiTaRSCBFB. human.
EvolutionaryTraceQ13951.
GeneWikiCBFB.
GenomeRNAi865.
NextBio3608.
PROQ13951.
SOURCESearch...

Entry information

Entry namePEBB_HUMAN
AccessionPrimary (citable) accession number: Q13951
Secondary accession number(s): A8K347, Q13124, Q9HCT2
Entry history
Integrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: July 9, 2014
This is version 137 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

PDB cross-references

Index of Protein Data Bank (PDB) cross-references

MIM cross-references

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

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 16

Human chromosome 16: entries, gene names and cross-references to MIM