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Protein

Core-binding factor subunit beta

Gene

CBFB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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.

GO - Molecular functioni

GO - Biological processi

Complete GO annotation...

Enzyme and pathway databases

BioCyciZFISH:ENSG00000067955-MONOMER.

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
Proteomesi
  • UP000005640 Componenti: Chromosome 16

Organism-specific databases

HGNCiHGNC:1539. CBFB.

Subcellular locationi

GO - Cellular componenti

  • core-binding factor complex Source: GO_Central
  • membrane Source: UniProtKB
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.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei165 – 166Breakpoint for translocation to form CBF-beta-MYH11 oncogene in AML, subtype M4EO2

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi865.
MalaCardsiCBFB.
OpenTargetsiENSG00000067955.
Orphaneti98829. 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)'.
PharmGKBiPA26114.

Chemistry databases

ChEMBLiCHEMBL1615386.

Polymorphism and mutation databases

BioMutaiCBFB.
DMDMi2498753.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000583011 – 182Core-binding factor subunit betaAdd BLAST182

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Isoform 2 (identifier: Q13951-2)
Modified residuei173PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ13951.
MaxQBiQ13951.
PaxDbiQ13951.
PeptideAtlasiQ13951.
PRIDEiQ13951.

PTM databases

iPTMnetiQ13951.
PhosphoSitePlusiQ13951.

Expressioni

Gene expression databases

BgeeiENSG00000067955.
CleanExiHS_CBFB.
ExpressionAtlasiQ13951. baseline and differential.
GenevisibleiQ13951. HS.

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. 26 interactors.
DIPiDIP-36772N.
IntActiQ13951. 22 interactors.
MINTiMINT-1414765.
STRINGi9606.ENSP00000415151.

Chemistry databases

BindingDBiQ13951.

Structurei

Secondary structure

1182
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi8 – 14Combined sources7
Helixi16 – 19Combined sources4
Beta strandi25 – 29Combined sources5
Beta strandi33 – 35Combined sources3
Helixi37 – 49Combined sources13
Beta strandi52 – 57Combined sources6
Turni58 – 61Combined sources4
Beta strandi65 – 67Combined sources3
Helixi71 – 73Combined sources3
Turni83 – 85Combined sources3
Beta strandi86 – 91Combined sources6
Beta strandi94 – 103Combined sources10
Beta strandi106 – 115Combined sources10
Turni116 – 118Combined sources3
Beta strandi119 – 127Combined sources9
Helixi129 – 134Combined sources6
Helixi137 – 148Combined sources12

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ13951.

Family & Domainsi

Sequence similaritiesi

Belongs to the CBF-beta family.Curated

Phylogenomic databases

eggNOGiKOG4785. Eukaryota.
ENOG410Z04Q. LUCA.
GeneTreeiENSGT00390000018132.
HOGENOMiHOG000008040.
HOVERGENiHBG000541.
InParanoidiQ13951.
OMAiGYLEYDD.
OrthoDBiEOG091G0VFL.
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. AlignAdd to basket

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

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036226100P → A in a breast cancer sample; somatic mutation. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_036044166 – 182VRVSQ…KTTRP → ARRQQDPSPGSNLGGGDDLK LR in isoform 2. 1 PublicationAdd BLAST17

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
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.4. human. [Q13951-1]

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:
EMBLi
GenBanki
DDBJi
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.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107313. 26 interactors.
DIPiDIP-36772N.
IntActiQ13951. 22 interactors.
MINTiMINT-1414765.
STRINGi9606.ENSP00000415151.

Chemistry databases

BindingDBiQ13951.
ChEMBLiCHEMBL1615386.

PTM databases

iPTMnetiQ13951.
PhosphoSitePlusiQ13951.

Polymorphism and mutation databases

BioMutaiCBFB.
DMDMi2498753.

Proteomic databases

EPDiQ13951.
MaxQBiQ13951.
PaxDbiQ13951.
PeptideAtlasiQ13951.
PRIDEiQ13951.

Protocols and materials databases

DNASUi865.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000290858; ENSP00000290858; ENSG00000067955. [Q13951-1]
ENST00000412916; ENSP00000415151; ENSG00000067955. [Q13951-2]
GeneIDi865.
KEGGihsa:865.
UCSCiuc002era.4. human. [Q13951-1]

Organism-specific databases

CTDi865.
DisGeNETi865.
GeneCardsiCBFB.
HGNCiHGNC:1539. CBFB.
HPAiHPA038852.
MalaCardsiCBFB.
MIMi121360. gene.
neXtProtiNX_Q13951.
OpenTargetsiENSG00000067955.
Orphaneti98829. 'Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)'.
PharmGKBiPA26114.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG4785. Eukaryota.
ENOG410Z04Q. LUCA.
GeneTreeiENSGT00390000018132.
HOGENOMiHOG000008040.
HOVERGENiHBG000541.
InParanoidiQ13951.
OMAiGYLEYDD.
OrthoDBiEOG091G0VFL.
PhylomeDBiQ13951.
TreeFamiTF314675.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000067955-MONOMER.

Miscellaneous databases

ChiTaRSiCBFB. human.
EvolutionaryTraceiQ13951.
GeneWikiiCBFB.
GenomeRNAii865.
PROiQ13951.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000067955.
CleanExiHS_CBFB.
ExpressionAtlasiQ13951. baseline and differential.
GenevisibleiQ13951. HS.

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.
ProtoNetiSearch...

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: November 30, 2016
This is version 156 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.