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Protein

DNA fragmentation factor subunit alpha

Gene

DFFA

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

Functioni

Inhibitor of the caspase-activated DNase (DFF40).

GO - Molecular functioni

  • deoxyribonuclease inhibitor activity Source: CAFA
  • protein binding involved in protein folding Source: CAFA
  • protein domain specific binding 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
  • thymocyte apoptotic process Source: Ensembl

Keywordsi

Biological processApoptosis

Enzyme and pathway databases

ReactomeiR-HSA-211227 Activation of DNA fragmentation factor
SignaLinkiO00273
SIGNORiO00273

Names & Taxonomyi

Protein namesi
Recommended name:
DNA fragmentation factor subunit alpha
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000160049.11
HGNCiHGNC:2772 DFFA
MIMi601882 gene
neXtProtiNX_O00273

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

Pathology & Biotechi

Organism-specific databases

DisGeNETi1676
OpenTargetsiENSG00000160049
PharmGKBiPA27254

Polymorphism and mutation databases

BioMutaiDFFA

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001447161 – 331DNA fragmentation factor subunit alphaAdd BLAST331

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1 Publication1
Modified residuei243PhosphothreonineCombined sources1
Modified residuei315PhosphoserineCombined sources1

Post-translational modificationi

Caspase-3 cleaves DFF45 at 2 sites to generate an active factor.

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sitei117 – 118Cleavage; by caspase-32
Sitei224 – 225Cleavage; by caspase-32

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiO00273
PaxDbiO00273
PeptideAtlasiO00273
PRIDEiO00273
ProteomicsDBi47820
47821 [O00273-2]

PTM databases

iPTMnetiO00273
PhosphoSitePlusiO00273

Miscellaneous databases

PMAP-CutDBiQ5T6G5

Expressioni

Gene expression databases

BgeeiENSG00000160049
CleanExiHS_DFFA
ExpressionAtlasiO00273 baseline and differential
GenevisibleiO00273 HS

Organism-specific databases

HPAiCAB002679
HPA018859
HPA019938
HPA025230

Interactioni

Subunit structurei

Heterodimer of DFFA and DFFB.

Binary interactionsi

Show more details

GO - Molecular functioni

  • protein binding involved in protein folding Source: CAFA
  • protein domain specific binding Source: CAFA

Protein-protein interaction databases

BioGridi108040, 43 interactors
IntActiO00273, 24 interactors
MINTiO00273
STRINGi9606.ENSP00000366237

Structurei

Secondary structure

1331
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi39 – 50Combined sources12
Beta strandi60 – 63Combined sources4
Turni64 – 66Combined sources3
Helixi73 – 78Combined sources6
Beta strandi84 – 88Combined sources5
Helixi239 – 246Combined sources8
Turni251 – 254Combined sources4
Helixi257 – 264Combined sources8
Helixi268 – 274Combined sources7
Helixi279 – 297Combined sources19
Helixi298 – 300Combined sources3

3D structure databases

DisProtiDP00173
ProteinModelPortaliO00273
SMRiO00273
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiO00273

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini17 – 96CIDE-NPROSITE-ProRule annotationAdd BLAST80

Phylogenomic databases

eggNOGiENOG410IU5B Eukaryota
ENOG4111HKY LUCA
GeneTreeiENSGT00510000048128
HOGENOMiHOG000112204
HOVERGENiHBG000683
InParanoidiO00273
KOiK02310
OMAiCLLRRNH
OrthoDBiEOG091G110A
PhylomeDBiO00273
TreeFamiTF102021

Family and domain databases

InterProiView protein in InterPro
IPR003508 CIDE-N_dom
IPR027296 DFF-C
IPR017299 DNA_fragmentation_factor_asu
IPR015121 DNA_fragmentation_mid_dom
PANTHERiPTHR12306:SF16 PTHR12306:SF16, 1 hit
PfamiView protein in Pfam
PF02017 CIDE-N, 1 hit
PF09033 DFF-C, 1 hit
PIRSFiPIRSF037865 DFF_alpha, 1 hit
ProDomiView protein in ProDom or Entries sharing at least one domain
PD316494 DNA_fragmentation_C, 1 hit
SMARTiView protein in SMART
SM00266 CAD, 1 hit
SUPFAMiSSF81783 SSF81783, 1 hit
PROSITEiView protein in PROSITE
PS51135 CIDE_N, 1 hit

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform DFF45 (identifier: O00273-1) [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
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
Length:331
Mass (Da):36,522
Last modified:July 1, 1997 - v1
Checksum:i8656FE45DB003DF3
GO
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.

Show »
Length:268
Mass (Da):29,411
Checksum:iEA130F9D27145474
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti291R → W in AAH07721 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_001085262 – 268LVTKEDP → VGGNQGH in isoform DFF35. 2 Publications7
Alternative sequenceiVSP_001086269 – 331Missing in isoform DFF35. 2 PublicationsAdd BLAST63

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
CCDSiCCDS118.1 [O00273-1]
CCDS119.1 [O00273-2]
RefSeqiNP_004392.1, NM_004401.2 [O00273-1]
NP_998731.1, NM_213566.1 [O00273-2]
UniGeneiHs.484782

Genome annotation databases

EnsembliENST00000377036; ENSP00000366235; ENSG00000160049 [O00273-2]
ENST00000377038; ENSP00000366237; ENSG00000160049 [O00273-1]
GeneIDi1676
KEGGihsa:1676
UCSCiuc001arj.4 human [O00273-1]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiDFFA_HUMAN
AccessioniPrimary (citable) accession number: O00273
Secondary accession number(s): Q5T6G5
, Q5T6G6, Q96I97, Q9Y6C6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: July 1, 1997
Last modified: July 18, 2018
This is version 189 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references

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