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HUMAN:H2AX

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) H2AFX (synonyms: H2AX)
Protein Name(s) Histone H2AX

H2a/x Histone H2A.X

External Links
UniProt P16104
EMBL X14850
CR457079
DQ015918
BC004915
BC011694
BC013416
CCDS CCDS8410.1
PIR S07631
RefSeq NP_002096.1
UniGene Hs.477879
PDB 1YDP
2AZM
2D31
2DYP
3SHV
3SQD
3SZM
3U3Z
PDBsum 1YDP
2AZM
2D31
2DYP
3SHV
3SQD
3SZM
3U3Z
ProteinModelPortal P16104
SMR P16104
BioGrid 109268
DIP DIP-33604N
IntAct P16104
MINT MINT-1338182
STRING 9606.ENSP00000364310
PhosphoSite P16104
DMDM 121992
MaxQB P16104
PaxDb P16104
PRIDE P16104
Ensembl ENST00000375167
ENST00000530167
GeneID 3014
KEGG hsa:3014
UCSC uc001pvg.3
CTD 3014
GeneCards GC11M118964
HGNC HGNC:4739
HPA CAB012264
MIM 601772
neXtProt NX_P16104
PharmGKB PA29116
eggNOG COG5262
GeneTree ENSGT00760000118934
HOGENOM HOG000234652
HOVERGEN HBG009342
InParanoid P16104
KO K11251
OMA TVGPKTP
OrthoDB EOG7M0NTR
PhylomeDB P16104
TreeFam TF300137
Reactome REACT_169168
REACT_169185
REACT_169436
REACT_172744
REACT_1884
REACT_1924
REACT_200753
REACT_200808
REACT_200827
REACT_200856
REACT_2204
REACT_22186
REACT_2232
REACT_228108
REACT_267652
REACT_267668
REACT_27271
REACT_486
REACT_75792
REACT_75925
REACT_7963
REACT_97
ChiTaRS H2AFX
EvolutionaryTrace P16104
GeneWiki H2AFX
GenomeRNAi 3014
NextBio 11948
PRO PR:P16104
Proteomes UP000005640
Bgee P16104
CleanEx HS_H2AFX
Genevestigator P16104
GO GO:0000794
GO:0070062
GO:0001673
GO:0000790
GO:0005654
GO:0000786
GO:0005634
GO:0005657
GO:0035861
GO:0001741
GO:0003684
GO:0003677
GO:0019899
GO:0042393
GO:0006974
GO:0000077
GO:0006281
GO:0006302
GO:0000724
GO:0051321
GO:0006334
GO:0045739
GO:0010212
GO:0007283
Gene3D 1.10.20.10
InterPro IPR009072
IPR007125
IPR002119
Pfam PF00125
PRINTS PR00620
SMART SM00414
SUPFAM SSF47113
PROSITE PS00046

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status

part_of

GO:0090734

site of DNA damage

PMID:27248496[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

C

part_of:(GO:0005634)

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

PMID:27248496[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

occurs_at:(GO:0005634)

Seeded From UniProt

complete

part_of

GO:0005813

centrosome

PMID:17498979[2]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:19734146[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:24507776[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

C

part_of:(GO:0006974)

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:16319397[5]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0070062

extracellular exosome

PMID:23533145[6]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:21630459[7]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

part_of:(CL:0000019)

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:23235539[8]

ECO:0000314

direct assay evidence used in manual assertion

C

exists_during:(GO:0006974)

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

PMID:15149599[9]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

colocalizes_with

GO:0000781

chromosome, telomeric region

PMID:15149599[9]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0045739

positive regulation of DNA repair

PMID:19234442[10]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0042393

histone binding

PMID:19234442[10]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:O00213

F

Seeded From UniProt

complete

enables

GO:0019899

enzyme binding

PMID:19234442[10]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q99504

F

Seeded From UniProt

complete

involved_in

GO:0010212

response to ionizing radiation

PMID:19234442[10]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006334

nucleosome assembly

PMID:2587254[11]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006302

double-strand break repair

PMID:19234442[10]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:17974976[12]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

PMID:2587254[11]

ECO:0000303

author statement without traceable support used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0000077

DNA damage checkpoint

PMID:17974976[12]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

PMID:21873635[13]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

PANTHER:PTN000605098
UniProtKB:P16104

P

Seeded From UniProt

complete

involved_in

GO:0006325

chromatin organization

PMID:21873635[13]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:2448285
PANTHER:PTN000604564
PomBase:SPBC11B10.10c

P

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

PMID:21873635[13]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

CGD:CAL0000179664
PANTHER:PTN000604564
UniProtKB:O97320
UniProtKB:Q7L7L0

F

Seeded From UniProt

complete

part_of

GO:0000790

nuclear chromatin

PMID:21873635[13]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

MGI:MGI:102688
PANTHER:PTN000604564
SGD:S000005372
UniProtKB:O75367
UniProtKB:Q9P0M6

C

Seeded From UniProt

complete

part_of

GO:0035861

site of double-strand break

PMID:21270334[14]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:15604234[15]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:11331621[16]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0016607

nuclear speck

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0090398

cellular senescence

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D3ZXP3
ensembl:ENSRNOP00000056469

P

Seeded From UniProt

complete

involved_in

GO:0071480

cellular response to gamma radiation

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D3ZXP3
ensembl:ENSRNOP00000056469

P

Seeded From UniProt

complete

involved_in

GO:0021987

cerebral cortex development

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D3ZXP3
ensembl:ENSRNOP00000056469

P

Seeded From UniProt

complete

involved_in

GO:0007283

spermatogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D3ZXP3
ensembl:ENSRNOP00000056469

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:D3ZXP3
ensembl:ENSRNOP00000056469

C

Seeded From UniProt

complete

part_of

GO:0035861

site of double-strand break

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27661
ensembl:ENSMUSP00000051432

C

Seeded From UniProt

complete

involved_in

GO:0007283

spermatogenesis

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27661
ensembl:ENSMUSP00000051432

P

Seeded From UniProt

complete

involved_in

GO:0006281

DNA repair

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27661
ensembl:ENSMUSP00000051432

P

Seeded From UniProt

complete

part_of

GO:0005694

chromosome

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27661
ensembl:ENSMUSP00000051432

C

Seeded From UniProt

complete

part_of

GO:0005657

replication fork

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27661
ensembl:ENSMUSP00000051432

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27661
ensembl:ENSMUSP00000051432

C

Seeded From UniProt

complete

enables

GO:0003684

damaged DNA binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27661
ensembl:ENSMUSP00000051432

F

Seeded From UniProt

complete

part_of

GO:0001741

XY body

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27661
ensembl:ENSMUSP00000051432

C

Seeded From UniProt

complete

part_of

GO:0001673

male germ cell nucleus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27661
ensembl:ENSMUSP00000051432

C

Seeded From UniProt

complete

part_of

GO:0000794

condensed nuclear chromosome

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27661
ensembl:ENSMUSP00000051432

C

Seeded From UniProt

complete

part_of

GO:0000790

nuclear chromatin

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27661
ensembl:ENSMUSP00000051432

C

Seeded From UniProt

complete

part_of

GO:0000785

chromatin

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27661
ensembl:ENSMUSP00000051432

C

Seeded From UniProt

complete

involved_in

GO:0000724

double-strand break repair via homologous recombination

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:P27661
ensembl:ENSMUSP00000051432

P

Seeded From UniProt

complete

part_of

GO:0000786

nucleosome

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002119
InterPro:IPR007125

C

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002119
InterPro:IPR007125

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR002119

C

Seeded From UniProt

complete

enables

GO:0046982

protein heterodimerization activity

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR009072

F

Seeded From UniProt

complete

involved_in

GO:0006303

double-strand break repair via nonhomologous end joining

Reactome:R-HSA-5693571

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

Reactome:R-HSA-69891
Reactome:R-HSA-5693602
Reactome:R-HSA-5693599
Reactome:R-HSA-5693583
Reactome:R-HSA-5693566
Reactome:R-HSA-5693551
Reactome:R-HSA-5693549
Reactome:R-HSA-5693536
Reactome:R-HSA-5686900
Reactome:R-HSA-5686704
Reactome:R-HSA-5686685
Reactome:R-HSA-5684071
Reactome:R-HSA-5684052
Reactome:R-HSA-5683986
Reactome:R-HSA-5683967
Reactome:R-HSA-5683964
Reactome:R-HSA-5683930
Reactome:R-HSA-5683801
Reactome:R-HSA-5683735
Reactome:R-HSA-5683425
Reactome:R-HSA-5683405
Reactome:R-HSA-5683385
Reactome:R-HSA-5683384
Reactome:R-HSA-5683077
Reactome:R-HSA-5682992
Reactome:R-HSA-5682983
Reactome:R-HSA-5682967
Reactome:R-HSA-5682965
Reactome:R-HSA-5682863
Reactome:R-HSA-5682858
Reactome:R-HSA-5682629
Reactome:R-HSA-5682607
Reactome:R-HSA-5682598
Reactome:R-HSA-5682588
Reactome:R-HSA-5682586

ECO:0000304

author statement supported by traceable reference used in manual assertion



































C

Seeded From UniProt

complete

part_of

GO:0005694

chromosome

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0158
UniProtKB-SubCell:SL-0468

C

Seeded From UniProt

complete

involved_in

GO:0051321

meiotic cell cycle

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0469

P

Seeded From UniProt

complete

involved_in

GO:0007049

cell cycle

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0131

P

Seeded From UniProt

complete

part_of

GO:0000786

nucleosome

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0544

C

Seeded From UniProt

complete

involved_in

GO:0006974

cellular response to DNA damage stimulus

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0227

P

Seeded From UniProt

complete

involved_in

GO:0006281

DNA repair

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0234

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

involved_in

GO:0006310

DNA recombination

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0233

P

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0238

F

Seeded From UniProt

complete

involved_in

GO:0016032

viral process

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0945

P

Seeded From UniProt

complete

Notes

References

See Help:References for how to manage references in GONUTS.

  1. 1.0 1.1 Gilmore, JM et al. (2016) WDR76 Co-Localizes with Heterochromatin Related Proteins and Rapidly Responds to DNA Damage. PLoS ONE 11 e0155492 PubMed GONUTS page
  2. Zhang, S et al. (2007) Werner syndrome helicase (WRN), nuclear DNA helicase II (NDH II) and histone gammaH2AX are localized to the centrosome. Cell Biol. Int. 31 1109-21 PubMed GONUTS page
  3. Richter, K et al. (2009) Speckled-like pattern in the germinal center (SLIP-GC), a nuclear GTPase expressed in activation-induced deaminase-expressing lymphomas and germinal center B cells. J. Biol. Chem. 284 30652-61 PubMed GONUTS page
  4. Tummala, H et al. (2014) ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function. Am. J. Hum. Genet. 94 246-56 PubMed GONUTS page
  5. Bonenfant, D et al. (2006) Characterization of histone H2A and H2B variants and their post-translational modifications by mass spectrometry. Mol. Cell Proteomics 5 541-52 PubMed GONUTS page
  6. Principe, S et al. (2013) In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine. Proteomics 13 1667-71 PubMed GONUTS page
  7. de Mateo, S et al. (2011) Proteomic characterization of the human sperm nucleus. Proteomics 11 2714-26 PubMed GONUTS page
  8. Lopez, MF et al. (2012) Depletion of nuclear histone H2A variants is associated with chronic DNA damage signaling upon drug-evoked senescence of human somatic cells. Aging (Albany NY) 4 823-42 PubMed GONUTS page
  9. 9.0 9.1 Herbig, U et al. (2004) Telomere shortening triggers senescence of human cells through a pathway involving ATM, p53, and p21(CIP1), but not p16(INK4a). Mol. Cell 14 501-13 PubMed GONUTS page
  10. 10.0 10.1 10.2 10.3 10.4 Cook, PJ et al. (2009) Tyrosine dephosphorylation of H2AX modulates apoptosis and survival decisions. Nature 458 591-6 PubMed GONUTS page
  11. 11.0 11.1 Mannironi, C et al. (1989) H2A.X. a histone isoprotein with a conserved C-terminal sequence, is encoded by a novel mRNA with both DNA replication type and polyA 3' processing signals. Nucleic Acids Res. 17 9113-26 PubMed GONUTS page
  12. 12.0 12.1 Medina, R et al. (2007) The HiNF-P/p220NPAT cell cycle signaling pathway controls nonhistone target genes. Cancer Res. 67 10334-42 PubMed GONUTS page
  13. 13.0 13.1 13.2 13.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  14. Boehler, C et al. (2011) Poly(ADP-ribose) polymerase 3 (PARP3), a newcomer in cellular response to DNA damage and mitotic progression. Proc. Natl. Acad. Sci. U.S.A. 108 2783-8 PubMed GONUTS page
  15. Polci, R et al. (2004) NIMA-related protein kinase 1 is involved early in the ionizing radiation-induced DNA damage response. Cancer Res. 64 8800-3 PubMed GONUTS page
  16. Chadwick, BP & Willard, HF (2001) Histone H2A variants and the inactive X chromosome: identification of a second macroH2A variant. Hum. Mol. Genet. 10 1101-13 PubMed GONUTS page