Details for: DFFA

Gene ID: 1676

Symbol: DFFA

Ensembl ID: ENSG00000160049

Description: DNA fragmentation factor subunit alpha

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 166.8325
    Cell Significance Index: -25.9500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 85.1589
    Cell Significance Index: -21.6000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 61.5518
    Cell Significance Index: -29.0600
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 59.6420
    Cell Significance Index: -24.2300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 53.1314
    Cell Significance Index: -27.3300
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 43.4412
    Cell Significance Index: -29.1500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 25.4205
    Cell Significance Index: -24.2700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 22.1419
    Cell Significance Index: -27.3000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.7392
    Cell Significance Index: -26.0900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 7.2669
    Cell Significance Index: -22.3200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 7.0450
    Cell Significance Index: -27.8000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 4.4138
    Cell Significance Index: -9.6600
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 1.5927
    Cell Significance Index: 21.7300
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.5761
    Cell Significance Index: 42.9000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.0050
    Cell Significance Index: 907.4600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.9198
    Cell Significance Index: 24.5600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.8350
    Cell Significance Index: 102.6700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.7783
    Cell Significance Index: 40.4300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.7049
    Cell Significance Index: 127.0800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6305
    Cell Significance Index: 86.5900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6261
    Cell Significance Index: 124.2600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5778
    Cell Significance Index: 36.4200
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.5451
    Cell Significance Index: 5.0200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.5256
    Cell Significance Index: 37.1700
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.5133
    Cell Significance Index: 280.3200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4663
    Cell Significance Index: 93.5300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4083
    Cell Significance Index: 26.3400
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.4046
    Cell Significance Index: 14.0600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.3889
    Cell Significance Index: 11.2100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3717
    Cell Significance Index: 133.3100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.3379
    Cell Significance Index: 9.0600
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.3326
    Cell Significance Index: 147.0600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3287
    Cell Significance Index: 15.4500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.3243
    Cell Significance Index: 38.2400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.3167
    Cell Significance Index: 40.6000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.2753
    Cell Significance Index: 35.5700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2722
    Cell Significance Index: 12.6900
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2619
    Cell Significance Index: 19.5200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2445
    Cell Significance Index: 16.9100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.2350
    Cell Significance Index: 6.1800
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.2155
    Cell Significance Index: 4.5100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.1853
    Cell Significance Index: 9.7300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1704
    Cell Significance Index: 29.1000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.1419
    Cell Significance Index: 27.0000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1224
    Cell Significance Index: 3.4200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0917
    Cell Significance Index: 63.4300
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0619
    Cell Significance Index: 6.1200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0570
    Cell Significance Index: 4.3800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0521
    Cell Significance Index: 2.3600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.0477
    Cell Significance Index: 1.4000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0402
    Cell Significance Index: 2.4700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0380
    Cell Significance Index: 2.1400
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0029
    Cell Significance Index: 2.1600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0003
    Cell Significance Index: 0.0100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0002
    Cell Significance Index: -0.4200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0035
    Cell Significance Index: -6.4700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0039
    Cell Significance Index: -2.9200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0058
    Cell Significance Index: -4.2700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0079
    Cell Significance Index: -12.2300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0084
    Cell Significance Index: -5.2200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0113
    Cell Significance Index: -15.3900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0196
    Cell Significance Index: -12.4700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0218
    Cell Significance Index: -12.3200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0227
    Cell Significance Index: -0.3800
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0332
    Cell Significance Index: -15.0500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0433
    Cell Significance Index: -4.4200
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0677
    Cell Significance Index: -14.2500
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0761
    Cell Significance Index: -21.8900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0772
    Cell Significance Index: -8.8400
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0924
    Cell Significance Index: -2.3600
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0949
    Cell Significance Index: -6.3800
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0964
    Cell Significance Index: -2.1100
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.0987
    Cell Significance Index: -1.3900
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1159
    Cell Significance Index: -5.1300
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1223
    Cell Significance Index: -17.7800
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.1234
    Cell Significance Index: -2.8500
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.1252
    Cell Significance Index: -1.0000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1287
    Cell Significance Index: -2.7400
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1300
    Cell Significance Index: -1.5500
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1459
    Cell Significance Index: -16.6600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1524
    Cell Significance Index: -5.7700
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1592
    Cell Significance Index: -18.5500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2179
    Cell Significance Index: -6.9800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2451
    Cell Significance Index: -19.4200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.2547
    Cell Significance Index: -26.5200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.3314
    Cell Significance Index: -7.1800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3531
    Cell Significance Index: -10.4000
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.3540
    Cell Significance Index: -18.4400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3589
    Cell Significance Index: -6.1500
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.3873
    Cell Significance Index: -2.3400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.3896
    Cell Significance Index: -4.9900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.4026
    Cell Significance Index: -11.5400
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.4063
    Cell Significance Index: -7.9300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.4064
    Cell Significance Index: -24.9200
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.4096
    Cell Significance Index: -5.8700
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.4314
    Cell Significance Index: -4.6900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4415
    Cell Significance Index: -11.8100
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.4498
    Cell Significance Index: -5.1100
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.4516
    Cell Significance Index: -22.8200
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.4619
    Cell Significance Index: -13.1800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Subunit of the DNA Fragmentation Factor Complex**: DFFA is a subunit of the DFF complex, which is composed of three subunits (α, β, and γ). The DFF complex is responsible for cleaving DNA during apoptosis, leading to the release of cytochrome c and the activation of the caspase cascade. 2. **Negative Regulation of Apoptosis**: DFFA acts as a negative regulator of apoptosis by inhibiting the activity of deoxyribonuclease (DNase) enzymes, which are involved in DNA fragmentation. This suggests that DFFA plays a crucial role in preventing excessive or uncontrolled cell death. 3. **Chaperone-Mediated Protein Folding**: DFFA has been implicated in chaperone-mediated protein folding, which is essential for maintaining protein homeostasis and preventing protein misfolding diseases. 4. **Expression in Immune Cells**: DFFA is significantly expressed in immune cells, including thymocytes, which are responsible for the development and maturation of T-cells. **Pathways and Functions:** 1. **Apoptosis Pathway**: DFFA is involved in the regulation of apoptosis, specifically in the execution phase, where it inhibits DNase activity and prevents excessive DNA fragmentation. 2. **DNA Fragmentation Pathway**: DFFA is a key component of the DFF complex, which cleaves DNA during apoptosis, leading to the release of cytochrome c and the activation of the caspase cascade. 3. **Chaperone-Mediated Protein Folding Pathway**: DFFA is involved in chaperone-mediated protein folding, which is essential for maintaining protein homeostasis and preventing protein misfolding diseases. 4. **Negative Regulation of Apoptosis Pathway**: DFFA acts as a negative regulator of apoptosis by inhibiting DNase activity, preventing excessive or uncontrolled cell death. **Clinical Significance:** 1. **Diseases Characterized by Uncontrolled Cell Death**: DFFA's role in regulating apoptosis suggests that dysregulation of the DFFA gene may contribute to diseases characterized by uncontrolled cell death, such as cancer, neurodegenerative disorders, and autoimmune diseases. 2. **Therapeutic Targeting**: Understanding the mechanisms of DFFA's regulation of apoptosis and its involvement in chaperone-mediated protein folding may lead to the identification of potential therapeutic targets for diseases characterized by uncontrolled cell death. 3. **Immune Cell Development and Function**: DFFA's expression in immune cells suggests that dysregulation of the DFFA gene may contribute to immune-related disorders, such as autoimmune diseases and immunodeficiency disorders. In conclusion, the DNA Fragmentation Factor Subunit Alpha (DFFA) is a critical regulator of apoptosis and cell survival, with implications for our understanding of various diseases characterized by uncontrolled cell death. Further research is needed to elucidate the mechanisms of DFFA's regulation of apoptosis and its involvement in chaperone-mediated protein folding, with potential therapeutic applications for diseases characterized by uncontrolled cell death.

Genular Protein ID: 345367029

Symbol: DFFA_HUMAN

Name: DNA fragmentation factor subunit alpha

UniProtKB Accession Codes:

O00273 Q5T6G5 Q5T6G6 Q96I97 Q9Y6C6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CTD 1 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 DisProt 1 EMBL 11 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 16 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 1 MINT 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 PDB 3 PDBsum 3 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 1 RefSeq 2 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9108473

Title: DFF, a heterodimeric protein that functions downstream of caspase-3 to trigger DNA fragmentation during apoptosis.

PubMed ID: 9108473

DOI: 10.1016/s0092-8674(00)80197-x

PubMed ID: 10409614

Title: Functional interaction of DFF35 and DFF45 with caspase-activated DNA fragmentation nuclease DFF40.

PubMed ID: 10409614

DOI: 10.1074/jbc.274.30.20759

PubMed ID: 10497265

Title: Identification of differentially expressed genes associated with HER-2/neu overexpression in human breast cancer cells.

PubMed ID: 10497265

DOI: 10.1093/nar/27.20.4008

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16964243

Title: A probability-based approach for high-throughput protein phosphorylation analysis and site localization.

PubMed ID: 16964243

DOI: 10.1038/nbt1240

PubMed ID: 17525332

Title: ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage.

PubMed ID: 17525332

DOI: 10.1126/science.1140321

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 22814378

Title: N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.

PubMed ID: 22814378

DOI: 10.1073/pnas.1210303109

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 11371636

Title: Solution structure of DFF40 and DFF45 N-terminal domain complex and mutual chaperone activity of DFF40 and DFF45.

PubMed ID: 11371636

DOI: 10.1073/pnas.111145098

Sequence Information:

  • Length: 331
  • Mass: 36522
  • Checksum: 8656FE45DB003DF3
  • Sequence:
    • MEVTGDAGVP ESGEIRTLKP CLLRRNYSRE QHGVAASCLE DLRSKACDIL AIDKSLTPVT 
LVLAEDGTIV DDDDYFLCLP SNTKFVALAS NEKWAYNNSD GGTAWISQES FDVDETDSGA 
GLKWKNVARQ LKEDLSSIIL LSEEDLQMLV DAPCSDLAQE LRQSCATVQR LQHTLQQVLD 
QREEVRQSKQ LLQLYLQALE KEGSLLSKQE ESKAAFGEEV DAVDTGISRE TSSDVALASH 
ILTALREKQA PELSLSSQDL ELVTKEDPKA LAVALNWDIK KTETVQEACE RELALRLQQT 
QSLHSLRSIS ASKASPPGDL QNPKRARQDP T

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.