Core-binding factor subunit beta - Homo sapiens (Human)

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Reviewed, UniProtKB/Swiss-Prot Q13951 (PEBB_HUMAN)

Last modified June 16, 2009. Version 88. History...

Clusters with 100%, 90%, 50% identity |

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

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Protein names

Recommended name:
    Core-binding factor subunit beta
      Short name=CBF-beta
Alternative name(s):
    Polyomavirus enhancer-binding protein 2 beta subunit
      Short name=PEBP2-beta
      Short name=PEA2-beta
    SL3-3 enhancer factor 1 subunit beta
    SL3/AKV core-binding factor beta subunit

Gene names

Name:

CBFB

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

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Sequence length	182 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is not processed.
Protein existence	Evidence at protein level.

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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, IL-3 and GM-CSF promoters. CBFB enhances DNA binding by RUNX1.
Subunit structure	Heterodimer with RUNX1.
Subcellular location	Nucleus Potential.
Involvement in disease	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.
Sequence similarities	Belongs to the CBF-beta family.

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Keywords
Cellular component	Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement Polymorphism
Disease	Proto-oncogene
PTM	Phosphoprotein
Technical term	3D-structure
Gene Ontology (GO)
Biological process	transcription from RNA polymerase II promoter Ref.7 Traceable author statement. Source: ProtInc
Cellular component	nucleus Inferred from electronic annotation. Source: UniProtKB-SubCell
Molecular function	RNA polymerase II transcription factor activity Ref.7 Traceable author statement. Source: ProtInc transcription coactivator activity Inferred from electronic annotation. Source: InterPro transcription factor activity Ref.7 Traceable author statement. Source: ProtInc
Complete GO annotation...

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Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Chain

1 – 182

182

Core-binding factor subunit beta

PRO_0000058301

Site

165 – 166

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

Alternative sequence

166 – 182

VRVSQ…KTTRP → ARRQQDPSPGSNLGGGDDLK LR in isoform 2.

VSP_036044

Natural variant

100

P → A in a breast cancer sample; somatic mutation. Ref.13

VAR_036226

182

Helix Strand Turn

Details...

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Sequence		Length	Mass (Da)
Isoform 1 [UniParc]. Last modified November 1, 1997. Version 2. Checksum: 20FB1CC05FBFE4FB Show »	FASTA	182	21,508
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. Checksum: 277B13D2A2ED18E4 Show »	FASTA	187	21,991
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 REEMEARRQQ DPSPGSNLGG GDDLKLR « Hide

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	« Hide 'large scale' referencesShow '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]	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 (JUL-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1). Tissue: Eye.
[5]	"Structure of the leukemia-associated human CBFB gene." Hajra A., Collins F.S. Genomics 26:571-579(1995) [PubMed: 7607682] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-26 (ISOFORMS 1/2).
[6]	Erratum Hajra A., Collins F.S. Genomics 38:107-107(1996) [PubMed: 9064279] [Abstract]
[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: 8351518] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 8-182 (ISOFORM 1). Tissue: Brain.
[8]	"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-173 (ISOFORM 2), MASS SPECTROMETRY.
[9]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[10]	"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: 10856244] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 2-135 IN COMPLEX WITH RUNX1.
[11]	"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: 11276260] [Abstract] Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 2-135 IN COMPLEX WITH RUNX1 AND DNA.
[12]	"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: 10404215] [Abstract] Cited for: STRUCTURE BY NMR OF 4-141.
[13]	"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. Velculescu V.E. Science 314:268-274(2006) [PubMed: 16959974] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ALA-100.
+	Additional computationally mapped references.

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Atlas of Genetics and Cytogenetics in Oncology and Haematology

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AF294326 mRNA. Translation: AAG01553.1.
BT006862 mRNA. Translation: AAP35508.1.
CH471092 Genomic DNA. Translation: EAW83068.1.
BC018509 mRNA. Translation: AAH18509.1.
L20298 mRNA. Translation: AAA02868.1.

IPI

IPI00016746.
IPI00024871.

PIR

A56840.
I59579.

RefSeq

NP_001746.1.
NP_074036.1.

UniGene

Hs.460988

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	[»]

ModBase

Search...

IntAct

Q13951. 2 interactions.

PhosphoSite

Q13951.

PeptideAtlas

Q13951.

PRIDE

Q13951.

Ensembl

ENSG00000067955. Homo sapiens. [Contig view]

GeneID

865.

KEGG

hsa:865.

GeneCards

GC16P065620.

H-InvDB

HIX0013131.

HGNC

HGNC:1539. CBFB.

MIM

121360. gene.

Orphanet

519. Leukemia, myeloid, acute.

PharmGKB

PA26114.

GenAtlas

Search...

HOVERGEN

Q13951.

OMA

Q13951. RVVPDQK.

Pathway_Interaction_DB

smad2_3nuclearpathway. Regulation of nuclear SMAD2/3 signaling.

ArrayExpress

Q13951.

Bgee

Q13951.

CleanEx

HS_CBFB.

GermOnline

ENSG00000067955. Homo sapiens.

InterPro

IPR003417. CBF_beta.
[Graphical view]

Gene3D

G3DSA:2.40.250.10. CBF_beta. 1 hit.

PANTHER

PTHR10276. CBF_beta. 1 hit.

Pfam

PF02312. CBF_beta. 1 hit.
[Graphical view]

ProtoNet

Search...

NextBio

3608.

SOURCE

Search...

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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: Phosphorylated on Ser-173.

Entry name

PEBB_HUMAN

Accession

Primary (citable) accession number: Q13951
Secondary accession number(s): Q13124, Q9HCT2

Entry history

Integrated into UniProtKB/Swiss-Prot:	November 1, 1997
Last sequence update:	November 1, 1997
Last modified:	June 16, 2009
This is version 88 of the entry and version 2 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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