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Protein

DNA fragmentation factor subunit beta

Gene

DFFB

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-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: ProtInc
  • enzyme binding Source: UniProtKB

GO - Biological processi

  • apoptotic chromosome condensation Source: UniProtKB
  • apoptotic DNA fragmentation Source: MGI
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Nuclease

Keywords - Biological processi

Apoptosis

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169598-MONOMER.
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

HGNCiHGNC:2773. DFFB.

Subcellular locationi

GO - Cellular componenti

  • cytosol Source: UniProtKB
  • nuclear chromatin Source: UniProtKB
  • nucleolus Source: HPA
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
Complete GO annotation...

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.

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

GO - Molecular functioni

  • enzyme binding Source: UniProtKB

Protein-protein interaction databases

BioGridi108041. 19 interactors.
IntActiO76075. 8 interactors.
MINTiMINT-365482.
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

Sequence similaritiesi

Contains 1 CIDE-N domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiENOG410IFTE. Eukaryota.
ENOG41102TS. LUCA.
GeneTreeiENSGT00390000014490.
HOGENOMiHOG000006502.
HOVERGENiHBG003828.
InParanoidiO76075.
KOiK02311.
PhylomeDBiO76075.
TreeFamiTF102022.

Family and domain databases

InterProiIPR015311. Apoptosis_DFF40.
IPR003508. CIDE-N_dom.
[Graphical view]
PfamiPF02017. CIDE-N. 1 hit.
PF09230. DFF40. 1 hit.
[Graphical view]
SMARTiSM00266. CAD. 1 hit.
[Graphical view]
PROSITEiPS51135. CIDE_N. 1 hit.
[Graphical view]

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 → K.1 PublicationCorresponds to variant rs12738235dbSNPEnsembl.1
Natural variantiVAR_048737277K → R.Corresponds to variant rs12564400dbSNPEnsembl.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. Translation: CAI17371.1.
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

Cross-referencesi

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. Translation: CAI17371.1.
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.

3D structure databases

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

Protein-protein interaction databases

BioGridi108041. 19 interactors.
IntActiO76075. 8 interactors.
MINTiMINT-365482.
STRINGi9606.ENSP00000367454.

PTM databases

iPTMnetiO76075.
PhosphoSitePlusiO76075.

Polymorphism and mutation databases

BioMutaiDFFB.

Proteomic databases

EPDiO76075.
MaxQBiO76075.
PaxDbiO76075.
PeptideAtlasiO76075.
PRIDEiO76075.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

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]

Organism-specific databases

CTDi1677.
DisGeNETi1677.
GeneCardsiDFFB.
HGNCiHGNC:2773. DFFB.
HPAiCAB004328.
HPA052904.
MIMi601883. gene.
neXtProtiNX_O76075.
OpenTargetsiENSG00000169598.
PharmGKBiPA27255.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410IFTE. Eukaryota.
ENOG41102TS. LUCA.
GeneTreeiENSGT00390000014490.
HOGENOMiHOG000006502.
HOVERGENiHBG003828.
InParanoidiO76075.
KOiK02311.
PhylomeDBiO76075.
TreeFamiTF102022.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000169598-MONOMER.
ReactomeiR-HSA-211227. Activation of DNA fragmentation factor.
SignaLinkiO76075.
SIGNORiO76075.

Miscellaneous databases

EvolutionaryTraceiO76075.
GeneWikiiDFFB.
GenomeRNAii1677.
PROiO76075.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000169598.
CleanExiHS_CAD.
HS_DFFB.
ExpressionAtlasiO76075. baseline and differential.
GenevisibleiO76075. HS.

Family and domain databases

InterProiIPR015311. Apoptosis_DFF40.
IPR003508. CIDE-N_dom.
[Graphical view]
PfamiPF02017. CIDE-N. 1 hit.
PF09230. DFF40. 1 hit.
[Graphical view]
SMARTiSM00266. CAD. 1 hit.
[Graphical view]
PROSITEiPS51135. CIDE_N. 1 hit.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiDFFB_HUMAN
AccessioniPrimary (citable) accession number: O76075
Secondary accession number(s): O60521
, Q5SR22, Q9BYI4, Q9BYI5, Q9BYI6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1998
Last modified: November 2, 2016
This is version 150 of the entry and version 1 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 1
    Human chromosome 1: 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.