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Protein

DNA fragmentation factor subunit beta

Gene

DFFB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Nuclease that induces DNA fragmentation and chromatin condensation during apoptosis. Degrades naked DNA and induces apoptotic morphology.

Enzyme regulationi

Inhibited by DFFA (DFF45).

GO - Molecular functioni

  • deoxyribonuclease activity Source: CAFA
  • disordered domain specific binding Source: CAFA
  • enzyme binding Source: UniProtKB
  • identical protein binding Source: CAFA
  • protein domain specific binding Source: CAFA

GO - Biological processi

  • apoptotic chromosome condensation Source: UniProtKB
  • apoptotic DNA fragmentation Source: CAFA
  • DNA catabolic process Source: CAFA
  • protein homooligomerization Source: CAFA

Keywordsi

Molecular functionHydrolase, Nuclease
Biological processApoptosis

Enzyme and pathway databases

ReactomeiR-HSA-211227 Activation of DNA fragmentation factor
SignaLinkiO76075
SIGNORiO76075

Names & Taxonomyi

Protein namesi
Recommended name:
DNA fragmentation factor subunit beta (EC:3.-.-.-)
Alternative name(s):
Caspase-activated deoxyribonuclease
Short name:
CAD
Short name:
Caspase-activated DNase
Caspase-activated nuclease
Short name:
CPAN
DNA fragmentation factor 40 kDa subunit
Short name:
DFF-40
Gene namesi
Name:DFFB
Synonyms:CAD, DFF2, DFF40
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000169598.15
HGNCiHGNC:2773 DFFB
MIMi601883 gene
neXtProtiNX_O76075

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi1677
OpenTargetsiENSG00000169598
PharmGKBiPA27255

Polymorphism and mutation databases

BioMutaiDFFB

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001447131 – 338DNA fragmentation factor subunit betaAdd BLAST338

Proteomic databases

EPDiO76075
MaxQBiO76075
PaxDbiO76075
PeptideAtlasiO76075
PRIDEiO76075
ProteomicsDBi50376
50377 [O76075-2]
50378 [O76075-3]
50379 [O76075-4]

PTM databases

iPTMnetiO76075
PhosphoSitePlusiO76075

Expressioni

Gene expression databases

BgeeiENSG00000169598
CleanExiHS_CAD
HS_DFFB
ExpressionAtlasiO76075 baseline and differential
GenevisibleiO76075 HS

Organism-specific databases

HPAiCAB004328
HPA052904

Interactioni

Subunit structurei

Heterodimer of DFFA and DFFB. Interacts with HIST1H1A.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
DFFAO002733EBI-1053821,EBI-727171

GO - Molecular functioni

  • disordered domain specific binding Source: CAFA
  • enzyme binding Source: UniProtKB
  • identical protein binding Source: CAFA
  • protein domain specific binding Source: CAFA

Protein-protein interaction databases

BioGridi108041, 20 interactors
IntActiO76075, 8 interactors
MINTiO76075
STRINGi9606.ENSP00000367454

Structurei

Secondary structure

1338
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi9 – 11Combined sources3
Beta strandi13 – 16Combined sources4
Helixi26 – 36Combined sources11
Turni41 – 43Combined sources3
Beta strandi44 – 51Combined sources8
Beta strandi57 – 59Combined sources3
Beta strandi69 – 72Combined sources4
Beta strandi74 – 76Combined sources3

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1IBXNMR-A1-80[»]
ProteinModelPortaliO76075
SMRiO76075
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO76075

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini4 – 80CIDE-NPROSITE-ProRule annotationAdd BLAST77

Phylogenomic databases

eggNOGiENOG410IFTE Eukaryota
ENOG41102TS LUCA
GeneTreeiENSGT00390000014490
HOGENOMiHOG000006502
HOVERGENiHBG003828
InParanoidiO76075
KOiK02311
PhylomeDBiO76075
TreeFamiTF102022

Family and domain databases

InterProiView protein in InterPro
IPR015311 Apoptosis_DFF40
IPR003508 CIDE-N_dom
PfamiView protein in Pfam
PF02017 CIDE-N, 1 hit
PF09230 DFF40, 1 hit
SMARTiView protein in SMART
SM00266 CAD, 1 hit
PROSITEiView protein in PROSITE
PS51135 CIDE_N, 1 hit

Sequences (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform Alpha (identifier: O76075-1) [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
MLQKPKSVKL RALRSPRKFG VAGRSCQEVL RKGCLRFQLP ERGSRLCLYE
60 70 80 90 100
DGTELTEDYF PSVPDNAELV LLTLGQAWQG YVSDIRRFLS AFHEPQVGLI
110 120 130 140 150
QAAQQLLCDE QAPQRQRLLA DLLHNVSQNI AAETRAEDPP WFEGLESRFQ
160 170 180 190 200
SKSGYLRYSC ESRIRSYLRE VSSYPSTVGA EAQEEFLRVL GSMCQRLRSM
210 220 230 240 250
QYNGSYFDRG AKGGSRLCTP EGWFSCQGPF DMDSCLSRHS INPYSNRESR
260 270 280 290 300
ILFSTWNLDH IIEKKRTIIP TLVEAIKEQD GREVDWEYFY GLLFTSENLK
310 320 330
LVHIVCHKKT THKLNCDPSR IYKPQTRLKR KQPVRKRQ
Length:338
Mass (Da):39,110
Last modified:November 1, 1998 - v1
Checksum:i0B0F3F8D91209389
GO
Isoform Beta (identifier: O76075-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     262-338: IEKKRTIIPT...KRKQPVRKRQ → DGVLLCGPG

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:270
Mass (Da):30,649
Checksum:i26AC88793BE46E7E
GO
Isoform Gamma (identifier: O76075-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     81-116: YVSDIRRFLSAFHEPQVGLIQAAQQLLCDEQAPQRQ → SVGVRARTKTRDTSSLSPGDCQALGNGGRCGQRLFL
     117-338: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:116
Mass (Da):12,800
Checksum:iF6C9A328ACBB54EE
GO
Isoform Delta (identifier: O76075-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     81-103: YVSDIRRFLSAFHEPQVGLIQAA → WFCHVSQDSLTLLGSSCPPALVS
     104-338: Missing.

Note: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Show »
Length:103
Mass (Da):11,482
Checksum:iF9BDC40AC25E4500
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_009305196R → K1 PublicationCorresponds to variant dbSNP:rs12738235Ensembl.1
Natural variantiVAR_048737277K → R. Corresponds to variant dbSNP:rs12564400Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_00108181 – 116YVSDI…APQRQ → SVGVRARTKTRDTSSLSPGD CQALGNGGRCGQRLFL in isoform Gamma. 1 PublicationAdd BLAST36
Alternative sequenceiVSP_00108381 – 103YVSDI…LIQAA → WFCHVSQDSLTLLGSSCPPA LVS in isoform Delta. 1 PublicationAdd BLAST23
Alternative sequenceiVSP_001084104 – 338Missing in isoform Delta. 1 PublicationAdd BLAST235
Alternative sequenceiVSP_001082117 – 338Missing in isoform Gamma. 1 PublicationAdd BLAST222
Alternative sequenceiVSP_001080262 – 338IEKKR…VRKRQ → DGVLLCGPG in isoform Beta. 1 PublicationAdd BLAST77

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF064019 mRNA Translation: AAC39920.1
AB013918 mRNA Translation: BAA32250.1
AF039210 mRNA Translation: AAC39709.1
AB028911 mRNA Translation: BAB40447.1
AB028912 mRNA Translation: BAB40448.1
AB028913 mRNA Translation: BAB40449.1
AK290877 mRNA Translation: BAF83566.1
AL691523 Genomic DNA No translation available.
BC048797 mRNA Translation: AAH48797.1
CCDSiCCDS52.1 [O76075-1]
RefSeqiNP_001307061.1, NM_001320132.1
NP_004393.1, NM_004402.3 [O76075-1]
UniGeneiHs.133089

Genome annotation databases

EnsembliENST00000339350; ENSP00000343218; ENSG00000169598 [O76075-3]
ENST00000378209; ENSP00000367454; ENSG00000169598 [O76075-1]
ENST00000491998; ENSP00000436775; ENSG00000169598 [O76075-2]
GeneIDi1677
KEGGihsa:1677
UCSCiuc001alc.5 human [O76075-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiDFFB_HUMAN
AccessioniPrimary (citable) accession number: O76075
Secondary accession number(s): O60521
, Q5SR22, Q9BYI4, Q9BYI5, Q9BYI6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1998
Last modified: June 20, 2018
This is version 161 of the entry and version 1 of the sequence. See 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

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