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O76075 (DFFB_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 127. 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·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:DFFB
Synonyms:CAD, DFF2, DFF40
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length338 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Enzyme regulation

Inhibited by DFFA (DFF45).

Subunit structure

Heterodimer of DFFA and DFFB. Interacts with HIST1H1A. Ref.9

Subcellular location

Cytoplasm. Nucleus.

Sequence similarities

Contains 1 CIDE-N domain.

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform Alpha (identifier: O76075-1)

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 Beta (identifier: O76075-2)

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.
Isoform Gamma (identifier: O76075-3)

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.
Isoform Delta (identifier: O76075-4)

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.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 338338DNA fragmentation factor subunit beta
PRO_0000144713

Regions

Domain4 – 8077CIDE-N

Natural variations

Alternative sequence81 – 11636YVSDI…APQRQ → SVGVRARTKTRDTSSLSPGD CQALGNGGRCGQRLFL in isoform Gamma.
VSP_001081
Alternative sequence81 – 10323YVSDI…LIQAA → WFCHVSQDSLTLLGSSCPPA LVS in isoform Delta.
VSP_001083
Alternative sequence104 – 338235Missing in isoform Delta.
VSP_001084
Alternative sequence117 – 338222Missing in isoform Gamma.
VSP_001082
Alternative sequence262 – 33877IEKKR…VRKRQ → DGVLLCGPG in isoform Beta.
VSP_001080
Natural variant1961R → K. Ref.11
Corresponds to variant rs12738235 [ dbSNP | Ensembl ].
VAR_009305
Natural variant2771K → R.
Corresponds to variant rs12564400 [ dbSNP | Ensembl ].
VAR_048737

Secondary structure

................ 338
Helix Strand Turn

Details...

Sequences

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

Last modified November 1, 1998. Version 1.
Checksum: 0B0F3F8D91209389

FASTA33839,110
        10         20         30         40         50         60 
MLQKPKSVKL RALRSPRKFG VAGRSCQEVL RKGCLRFQLP ERGSRLCLYE DGTELTEDYF 

        70         80         90        100        110        120 
PSVPDNAELV LLTLGQAWQG YVSDIRRFLS AFHEPQVGLI QAAQQLLCDE QAPQRQRLLA 

       130        140        150        160        170        180 
DLLHNVSQNI AAETRAEDPP WFEGLESRFQ SKSGYLRYSC ESRIRSYLRE VSSYPSTVGA 

       190        200        210        220        230        240 
EAQEEFLRVL GSMCQRLRSM QYNGSYFDRG AKGGSRLCTP EGWFSCQGPF DMDSCLSRHS 

       250        260        270        280        290        300 
INPYSNRESR ILFSTWNLDH IIEKKRTIIP TLVEAIKEQD GREVDWEYFY GLLFTSENLK 

       310        320        330 
LVHIVCHKKT THKLNCDPSR IYKPQTRLKR KQPVRKRQ 

« Hide

Isoform Beta [UniParc].

Checksum: 26AC88793BE46E7E
Show »

FASTA27030,649
Isoform Gamma [UniParc].

Checksum: F6C9A328ACBB54EE
Show »

FASTA11612,800
Isoform Delta [UniParc].

Checksum: F9BDC40AC25E4500
Show »

FASTA10311,482

References

« Hide 'large scale' references
[1]"The 40-kDa subunit of DNA fragmentation factor induces DNA fragmentation and chromatin condensation during apoptosis."
Liu X., Li P., Widlak P., Zou H., Luo X., Garrard W.T., Wang X.
Proc. Natl. Acad. Sci. U.S.A. 95:8461-8466(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA).
[2]"Molecular cloning and characterization of human caspase-activated DNase."
Mukae N., Enari M., Sakahira H., Fukuda Y., Inazawa J., Toh H., Nagata S.
Proc. Natl. Acad. Sci. U.S.A. 95:9123-9128(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA).
[3]"CPAN, a human nuclease regulated by the caspase-sensitive inhibitor DFF45."
Halenbeck R., MacDonald H., Roulston A., Chen T.T., Conroy L., Williams L.T.
Curr. Biol. 8:537-540(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM ALPHA).
Tissue: Pancreas.
[4]"DFF40 delta."
Nakagawara A., Takahashi M., Takada N., Kawamoto T.
Submitted (JUN-1999) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS BETA; GAMMA AND DELTA).
Tissue: Fetal brain.
[5]"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 ALPHA).
[6]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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 ALPHA).
Tissue: Lung.
[8]"An unappreciated role for RNA surveillance."
Hillman R.T., Green R.E., Brenner S.E.
Genome Biol. 5:R8.1-R8.16(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: SPLICE ISOFORM(S) THAT ARE POTENTIAL NMD TARGET(S).
[9]"Histone H1 subtype preferences of DFF40 and possible nuclear localization of DFF40/45 in normal and trichostatin A-treated NB4 leukemic cells."
Ninios Y.P., Sekeri-Pataryas K.E., Sourlingas T.G.
Apoptosis 15:128-138(2010) [PubMed] [Europe PMC] [Abstract]
Cited for: INTERACTION WITH HIST1H1A.
[10]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"Structure and mutation analysis of the gene encoding DNA fragmentation factor 40 (caspase-activated nuclease), a candidate neuroblastoma tumour suppressor gene."
Judson H., van Roy N., Strain L., Vandesompele J., Van Gele M., Speleman F., Bonthron D.T.
Hum. Genet. 106:406-413(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT LYS-196.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS52.1. [O76075-1]
RefSeqNP_004393.1. NM_004402.3. [O76075-1]
UniGeneHs.133089.

3D structure databases

PDBe
RCSB-PDB
PDBj
EntryMethodResolution (Å)ChainPositionsPDBsum
1IBXNMR-A1-80[»]
ProteinModelPortalO76075.
SMRO76075. Positions 1-326.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid108041. 14 interactions.
IntActO76075. 7 interactions.
MINTMINT-365482.
STRING9606.ENSP00000367454.

PTM databases

PhosphoSiteO76075.

Proteomic databases

MaxQBO76075.
PaxDbO76075.
PRIDEO76075.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000338895; ENSP00000339524; ENSG00000169598. [O76075-2]
ENST00000339350; ENSP00000343218; ENSG00000169598. [O76075-3]
ENST00000378209; ENSP00000367454; ENSG00000169598. [O76075-1]
ENST00000378212; ENSP00000367457; ENSG00000169598. [O76075-3]
ENST00000491998; ENSP00000436775; ENSG00000169598. [O76075-2]
GeneID1677.
KEGGhsa:1677.
UCSCuc001alc.3. human. [O76075-1]
uc009vlo.1. human. [O76075-2]

Organism-specific databases

CTD1677.
GeneCardsGC01P003797.
HGNCHGNC:2773. DFFB.
HPACAB004328.
MIM601883. gene.
neXtProtNX_O76075.
PharmGKBPA27255.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG68641.
HOGENOMHOG000006502.
HOVERGENHBG003828.
InParanoidO76075.
KOK02311.
OMAAGQTWQG.
OrthoDBEOG712TW8.
PhylomeDBO76075.
TreeFamTF102022.

Enzyme and pathway databases

ReactomeREACT_578. Apoptosis.
SignaLinkO76075.

Gene expression databases

ArrayExpressO76075.
BgeeO76075.
CleanExHS_CAD.
HS_DFFB.
GenevestigatorO76075.

Family and domain databases

InterProIPR015311. Apoptosis_DFF40.
IPR003508. CIDE-N_dom.
[Graphical view]
PfamPF02017. CIDE-N. 1 hit.
PF09230. DFF40. 1 hit.
[Graphical view]
PROSITEPS51135. CIDE_N. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

EvolutionaryTraceO76075.
GeneWikiDFFB.
GenomeRNAi1677.
NextBio6902.
PROO76075.
SOURCESearch...

Entry information

Entry nameDFFB_HUMAN
AccessionPrimary (citable) accession number: O76075
Secondary accession number(s): O60521 expand/collapse secondary AC list , Q5SR22, Q9BYI4, Q9BYI5, Q9BYI6
Entry history
Integrated into UniProtKB/Swiss-Prot: December 1, 2000
Last sequence update: November 1, 1998
Last modified: July 9, 2014
This is version 127 of the entry and version 1 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 1

Human chromosome 1: entries, gene names and cross-references to MIM