UniProtKB - O00273 (DFFA_HUMAN)
Protein
DNA fragmentation factor subunit alpha
Gene
DFFA
Organism
Homo sapiens (Human)
Status
Functioni
Inhibitor of the caspase-activated DNase (DFF40).
GO - Molecular functioni
- deoxyribonuclease inhibitor activity Source: CAFA
- protein domain specific binding Source: CAFA
- protein folding chaperone Source: CAFA
GO - Biological processi
- apoptotic DNA fragmentation Source: Reactome
- chaperone-mediated protein folding Source: CAFA
- negative regulation of apoptotic DNA fragmentation Source: MGI
- negative regulation of deoxyribonuclease activity Source: CAFA
- negative regulation of execution phase of apoptosis Source: BHF-UCL
- positive regulation of apoptotic process Source: Ensembl
- regulation of apoptotic process Source: GO_Central
- thymocyte apoptotic process Source: Ensembl
Keywordsi
Biological process | Apoptosis |
Enzyme and pathway databases
PathwayCommonsi | O00273 |
Reactomei | R-HSA-140342, Apoptosis induced DNA fragmentation |
SignaLinki | O00273 |
SIGNORi | O00273 |
Names & Taxonomyi
Protein namesi | Recommended name: DNA fragmentation factor subunit alphaAlternative name(s): DNA fragmentation factor 45 kDa subunit Short name: DFF-45 Inhibitor of CAD Short name: ICAD |
Gene namesi | Name:DFFA Synonyms:DFF1, DFF45 ORF Names:H13 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:2772, DFFA |
MIMi | 601882, gene |
neXtProti | NX_O00273 |
VEuPathDBi | HostDB:ENSG00000160049.11 |
Subcellular locationi
Other locations
Cytosol
- cytosol Source: UniProtKB
Nucleus
- nuclear chromatin Source: UniProtKB
- nucleoplasm Source: Reactome
- nucleus Source: MGI
Plasma Membrane
- plasma membrane Source: HPA
Other locations
- protein-containing complex Source: CAFA
Keywords - Cellular componenti
CytoplasmPathology & Biotechi
Organism-specific databases
DisGeNETi | 1676 |
OpenTargetsi | ENSG00000160049 |
PharmGKBi | PA27254 |
Miscellaneous databases
Pharosi | O00273, Tbio |
Genetic variation databases
BioMutai | DFFA |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000144716 | 1 – 331 | DNA fragmentation factor subunit alphaAdd BLAST | 331 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 1 | N-acetylmethionineCombined sources1 Publication | 1 | |
Modified residuei | 243 | PhosphothreonineCombined sources | 1 | |
Modified residuei | 315 | PhosphoserineCombined sources | 1 |
Post-translational modificationi
Caspase-3 cleaves DFF45 at 2 sites to generate an active factor.
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 117 – 118 | Cleavage; by caspase-3 | 2 | |
Sitei | 224 – 225 | Cleavage; by caspase-3 | 2 |
Keywords - PTMi
Acetylation, PhosphoproteinProteomic databases
EPDi | O00273 |
jPOSTi | O00273 |
MassIVEi | O00273 |
PaxDbi | O00273 |
PeptideAtlasi | O00273 |
PRIDEi | O00273 |
ProteomicsDBi | 47820 [O00273-1] 47821 [O00273-2] |
PTM databases
iPTMneti | O00273 |
PhosphoSitePlusi | O00273 |
Expressioni
Gene expression databases
Bgeei | ENSG00000160049, Expressed in medial globus pallidus and 243 other tissues |
ExpressionAtlasi | O00273, baseline and differential |
Genevisiblei | O00273, HS |
Organism-specific databases
HPAi | ENSG00000160049, Low tissue specificity |
Interactioni
Subunit structurei
Heterodimer of DFFA and DFFB.
1 PublicationBinary interactionsi
Hide detailsO00273
With | #Exp. | IntAct |
---|---|---|
DFFB [O76075] | 4 | EBI-727171,EBI-1053821 |
HSPB1 [P04792] | 2 | EBI-727171,EBI-352682 |
Dffb [O54788] from Mus musculus. | 8 | EBI-727171,EBI-7365197 |
GO - Molecular functioni
- protein domain specific binding Source: CAFA
Protein-protein interaction databases
BioGRIDi | 108040, 46 interactors |
IntActi | O00273, 14 interactors |
MINTi | O00273 |
STRINGi | 9606.ENSP00000366237 |
Miscellaneous databases
RNActi | O00273, protein |
Structurei
Secondary structure
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details3D structure databases
BMRBi | O00273 |
SMRi | O00273 |
ModBasei | Search... |
PDBe-KBi | Search... |
Miscellaneous databases
EvolutionaryTracei | O00273 |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 17 – 96 | CIDE-NPROSITE-ProRule annotationAdd BLAST | 80 |
Phylogenomic databases
eggNOGi | ENOG502RQ19, Eukaryota |
GeneTreei | ENSGT00390000018596 |
HOGENOMi | CLU_086234_0_0_1 |
InParanoidi | O00273 |
OMAi | NWDIRKT |
OrthoDBi | 1564672at2759 |
PhylomeDBi | O00273 |
TreeFami | TF102021 |
Family and domain databases
DisProti | DP00173 |
InterProi | View protein in InterPro IPR003508, CIDE-N_dom IPR027296, DFF-C IPR017299, DFF45 IPR015121, DNA_fragmentation_mid_dom |
PANTHERi | PTHR12306:SF16, PTHR12306:SF16, 1 hit |
Pfami | View protein in Pfam PF02017, CIDE-N, 1 hit PF09033, DFF-C, 1 hit |
PIRSFi | PIRSF037865, DFF_alpha, 1 hit |
SMARTi | View protein in SMART SM00266, CAD, 1 hit |
SUPFAMi | SSF81783, SSF81783, 1 hit |
PROSITEi | View protein in PROSITE PS51135, CIDE_N, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform DFF45 (identifier: O00273-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEVTGDAGVP ESGEIRTLKP CLLRRNYSRE QHGVAASCLE DLRSKACDIL
60 70 80 90 100
AIDKSLTPVT LVLAEDGTIV DDDDYFLCLP SNTKFVALAS NEKWAYNNSD
110 120 130 140 150
GGTAWISQES FDVDETDSGA GLKWKNVARQ LKEDLSSIIL LSEEDLQMLV
160 170 180 190 200
DAPCSDLAQE LRQSCATVQR LQHTLQQVLD QREEVRQSKQ LLQLYLQALE
210 220 230 240 250
KEGSLLSKQE ESKAAFGEEV DAVDTGISRE TSSDVALASH ILTALREKQA
260 270 280 290 300
PELSLSSQDL ELVTKEDPKA LAVALNWDIK KTETVQEACE RELALRLQQT
310 320 330
QSLHSLRSIS ASKASPPGDL QNPKRARQDP T
Isoform DFF35 (identifier: O00273-2) [UniParc]FASTAAdd to basket
The sequence of this isoform differs from the canonical sequence as follows:
262-268: LVTKEDP → VGGNQGH
269-331: Missing.
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketK7ERT1 | K7ERT1_HUMAN | DNA fragmentation factor subunit al... | DFFA | 159 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 291 | R → W in AAH07721 (PubMed:15489334).Curated | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_001085 | 262 – 268 | LVTKEDP → VGGNQGH in isoform DFF35. 2 Publications | 7 | |
Alternative sequenceiVSP_001086 | 269 – 331 | Missing in isoform DFF35. 2 PublicationsAdd BLAST | 63 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U91985 mRNA Translation: AAC51249.1 AF087573 mRNA Translation: AAD32953.1 AF103799 mRNA Translation: AAF02419.1 BT006980 mRNA Translation: AAP35626.1 AK313317 mRNA Translation: BAG36122.1 AL354956 Genomic DNA No translation available. CH471130 Genomic DNA Translation: EAW71656.1 CH471130 Genomic DNA Translation: EAW71657.1 BC000037 mRNA Translation: AAH00037.1 BC007112 mRNA Translation: AAH07112.1 BC007721 mRNA Translation: AAH07721.1 |
CCDSi | CCDS118.1 [O00273-1] CCDS119.1 [O00273-2] |
RefSeqi | NP_004392.1, NM_004401.2 [O00273-1] NP_998731.1, NM_213566.1 [O00273-2] |
Genome annotation databases
Ensembli | ENST00000377036; ENSP00000366235; ENSG00000160049 [O00273-2] ENST00000377038; ENSP00000366237; ENSG00000160049 [O00273-1] |
GeneIDi | 1676 |
KEGGi | hsa:1676 |
UCSCi | uc001arj.4, human [O00273-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U91985 mRNA Translation: AAC51249.1 AF087573 mRNA Translation: AAD32953.1 AF103799 mRNA Translation: AAF02419.1 BT006980 mRNA Translation: AAP35626.1 AK313317 mRNA Translation: BAG36122.1 AL354956 Genomic DNA No translation available. CH471130 Genomic DNA Translation: EAW71656.1 CH471130 Genomic DNA Translation: EAW71657.1 BC000037 mRNA Translation: AAH00037.1 BC007112 mRNA Translation: AAH07112.1 BC007721 mRNA Translation: AAH07721.1 |
CCDSi | CCDS118.1 [O00273-1] CCDS119.1 [O00273-2] |
RefSeqi | NP_004392.1, NM_004401.2 [O00273-1] NP_998731.1, NM_213566.1 [O00273-2] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
1IBX | NMR | - | B | 11-100 | [»] | |
1IYR | NMR | - | A | 225-331 | [»] | |
1KOY | NMR | - | A | 239-300 | [»] | |
BMRBi | O00273 | |||||
SMRi | O00273 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 108040, 46 interactors |
IntActi | O00273, 14 interactors |
MINTi | O00273 |
STRINGi | 9606.ENSP00000366237 |
PTM databases
iPTMneti | O00273 |
PhosphoSitePlusi | O00273 |
Genetic variation databases
BioMutai | DFFA |
Proteomic databases
EPDi | O00273 |
jPOSTi | O00273 |
MassIVEi | O00273 |
PaxDbi | O00273 |
PeptideAtlasi | O00273 |
PRIDEi | O00273 |
ProteomicsDBi | 47820 [O00273-1] 47821 [O00273-2] |
Protocols and materials databases
Antibodypediai | 3633, 817 antibodies |
DNASUi | 1676 |
Genome annotation databases
Ensembli | ENST00000377036; ENSP00000366235; ENSG00000160049 [O00273-2] ENST00000377038; ENSP00000366237; ENSG00000160049 [O00273-1] |
GeneIDi | 1676 |
KEGGi | hsa:1676 |
UCSCi | uc001arj.4, human [O00273-1] |
Organism-specific databases
CTDi | 1676 |
DisGeNETi | 1676 |
GeneCardsi | DFFA |
HGNCi | HGNC:2772, DFFA |
HPAi | ENSG00000160049, Low tissue specificity |
MIMi | 601882, gene |
neXtProti | NX_O00273 |
OpenTargetsi | ENSG00000160049 |
PharmGKBi | PA27254 |
VEuPathDBi | HostDB:ENSG00000160049.11 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | ENOG502RQ19, Eukaryota |
GeneTreei | ENSGT00390000018596 |
HOGENOMi | CLU_086234_0_0_1 |
InParanoidi | O00273 |
OMAi | NWDIRKT |
OrthoDBi | 1564672at2759 |
PhylomeDBi | O00273 |
TreeFami | TF102021 |
Enzyme and pathway databases
PathwayCommonsi | O00273 |
Reactomei | R-HSA-140342, Apoptosis induced DNA fragmentation |
SignaLinki | O00273 |
SIGNORi | O00273 |
Miscellaneous databases
BioGRID-ORCSi | 1676, 3 hits in 876 CRISPR screens |
ChiTaRSi | DFFA, human |
EvolutionaryTracei | O00273 |
GeneWikii | DFFA |
GenomeRNAii | 1676 |
Pharosi | O00273, Tbio |
PROi | PR:O00273 |
RNActi | O00273, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000160049, Expressed in medial globus pallidus and 243 other tissues |
ExpressionAtlasi | O00273, baseline and differential |
Genevisiblei | O00273, HS |
Family and domain databases
DisProti | DP00173 |
InterProi | View protein in InterPro IPR003508, CIDE-N_dom IPR027296, DFF-C IPR017299, DFF45 IPR015121, DNA_fragmentation_mid_dom |
PANTHERi | PTHR12306:SF16, PTHR12306:SF16, 1 hit |
Pfami | View protein in Pfam PF02017, CIDE-N, 1 hit PF09033, DFF-C, 1 hit |
PIRSFi | PIRSF037865, DFF_alpha, 1 hit |
SMARTi | View protein in SMART SM00266, CAD, 1 hit |
SUPFAMi | SSF81783, SSF81783, 1 hit |
PROSITEi | View protein in PROSITE PS51135, CIDE_N, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | DFFA_HUMAN | |
Accessioni | O00273Primary (citable) accession number: O00273 Secondary accession number(s): Q5T6G5 Q9Y6C6 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | November 1, 1997 |
Last sequence update: | July 1, 1997 | |
Last modified: | February 10, 2021 | |
This is version 209 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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, Direct protein sequencing, Reference proteomeDocuments
- Human chromosome 1
Human chromosome 1: entries, gene names and cross-references to MIM - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references