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HUMAN:H2AY

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) H2AFY (synonyms: MACROH2A1)
Protein Name(s) Core histone macro-H2A.1

Histone macroH2A1 mH2A1 Histone H2A.y H2A/y Medulloblastoma antigen MU-MB-50.205

External Links
UniProt O75367
EMBL AF041483
AF044286
AF054174
AK023409
AC026691
BC013331
BC095406
AY134746
CCDS CCDS4183.1
CCDS4184.1
CCDS4185.1
RefSeq NP_001035248.1
NP_004884.1
NP_613075.1
NP_613258.2
UniGene Hs.420272
Hs.599225
PDB 1U35
1ZR3
1ZR5
2F8N
2FXK
3HQH
3HSV
3IID
3IIF
3IVB
PDBsum 1U35
1ZR3
1ZR5
2F8N
2FXK
3HQH
3HSV
3IID
3IIF
3IVB
ProteinModelPortal O75367
SMR O75367
BioGrid 114927
DIP DIP-44283N
IntAct O75367
MINT MINT-2866965
STRING 9606.ENSP00000353806
PhosphoSite O75367
SWISS-2DPAGE O75367
MaxQB O75367
PaxDb O75367
PRIDE O75367
DNASU 9555
Ensembl ENST00000304332
ENST00000312469
ENST00000510038
ENST00000511689
GeneID 9555
KEGG hsa:9555
UCSC uc003lam.1
uc003lan.1
uc003lao.1
CTD 9555
GeneCards GC05M134669
HGNC HGNC:4740
MIM 610054
neXtProt NX_O75367
PharmGKB PA29117
eggNOG COG2110
GeneTree ENSGT00760000119217
HOVERGEN HBG009342
InParanoid O75367
KO K11251
OMA QVVQADI
OrthoDB EOG71G9VP
PhylomeDB O75367
TreeFam TF332276
ChiTaRS H2AFY
EvolutionaryTrace O75367
GeneWiki H2AFY
GenomeRNAi 9555
NextBio 35835
PMAP-CutDB O75367
PRO PR:O75367
Proteomes UP000005640
Bgee O75367
CleanEx HS_H2AFY
ExpressionAtlas O75367
Genevestigator O75367
GO GO:0001740
GO:0000793
GO:0070062
GO:0000790
GO:0005730
GO:0000786
GO:0005634
GO:0005721
GO:0001739
GO:0031490
GO:0003677
GO:0010385
GO:0019901
GO:0030291
GO:0000182
GO:0044212
GO:0016568
GO:0007549
GO:0071169
GO:1902750
GO:0045814
GO:0033128
GO:0071901
GO:0000122
GO:1901837
GO:0006334
Gene3D 1.10.20.10
InterPro IPR021171
IPR009072
IPR007125
IPR002119
IPR002589
Pfam PF00125
PF01661
PIRSF PIRSF037942
PRINTS PR00620
SMART SM00506
SM00414
SUPFAM SSF47113
PROSITE PS51154

Annotations

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

involved_in

GO:1902882

regulation of response to oxidative stress

PMID:23022728[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0000784

nuclear chromosome, telomeric region

PMID:19135898[2]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:1904815

negative regulation of protein localization to chromosome, telomeric region

PMID:26373281[3]

ECO:0000314

direct assay evidence used in manual assertion

P

transports_or_maintains_localization_of:(UniProtKB:O95271)

Seeded From UniProt

complete

involved_in

GO:0034184

positive regulation of maintenance of mitotic sister chromatid cohesion

PMID:26373281[3]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0019899

enzyme binding

PMID:26373281[3]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:O95271

F

Seeded From UniProt

complete

involved_in

GO:0045814

negative regulation of gene expression, epigenetic

PMID:23595991[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0000977

RNA polymerase II regulatory region sequence-specific DNA binding

PMID:23595991[4]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0045618

positive regulation of keratinocyte differentiation

PMID:23595991[4]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0000979

RNA polymerase II core promoter sequence-specific DNA binding

PMID:25526730[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0061086

negative regulation of histone H3-K27 methylation

PMID:25526730[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

causally_upstream_of:(GO:0019216)

Seeded From UniProt

complete

involved_in

GO:0051572

negative regulation of histone H3-K4 methylation

PMID:25526730[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

causally_upstream_of:(GO:0019216)

Seeded From UniProt

complete

involved_in

GO:0045815

positive regulation of gene expression, epigenetic

PMID:25526730[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

causally_upstream_of:(GO:0019216)

Seeded From UniProt

complete

involved_in

GO:0019216

regulation of lipid metabolic process

PMID:25526730[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

occurs_in:(CL:0000182)

Seeded From UniProt

complete

enables

GO:0044212

transcription regulatory region DNA binding

PMID:20008927[6]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0040029

regulation of gene expression, epigenetic

PMID:20008927[6]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0031492

nucleosomal DNA binding

PMID:20008927[6]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0031492

nucleosomal DNA binding

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q9QZQ8

F

Seeded From UniProt

complete

enables

GO:1990841

promoter-specific chromatin binding

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q9QZQ8

F

Seeded From UniProt

complete

part_of

GO:0000228

nuclear chromosome

PMID:18936163[7]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0001740

Barr body

PMID:18936163[7]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005721

pericentric heterochromatin

PMID:19486527[8]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0070062

extracellular exosome

PMID:23533145[9]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:1902750

negative regulation of cell cycle G2/M phase transition

PMID:22194607[10]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1901837

negative regulation of transcription of nucleolar large rRNA by RNA polymerase I

PMID:24071584[11]

ECO:0000316

genetic interaction evidence used in manual assertion

UniProtKB:Q9P0M6

P

Seeded From UniProt

complete

involved_in

GO:1901837

negative regulation of transcription of nucleolar large rRNA by RNA polymerase I

PMID:24071584[11]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071901

negative regulation of protein serine/threonine kinase activity

PMID:22194607[10]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0071169

establishment of protein localization to chromatin

PMID:19734898[12]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

has_input:(UniProtKB:Q15910)

Seeded From UniProt

complete

NOT|involved_in

GO:0061187

regulation of chromatin silencing at rDNA

PMID:24071584[11]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045814

negative regulation of gene expression, epigenetic

PMID:19734898[12]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045814

negative regulation of gene expression, epigenetic

PMID:24071584[11]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0044212

transcription regulatory region DNA binding

PMID:19734898[12]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0033128

negative regulation of histone phosphorylation

PMID:22194607[10]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0031490

chromatin DNA binding

PMID:19734898[12]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0031490

chromatin DNA binding

PMID:24071584[11]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

enables

GO:0030291

protein serine/threonine kinase inhibitor activity

PMID:22194607[10]

ECO:0000315

mutant phenotype evidence used in manual assertion

F

has_regulation_target:(UniProtKB:Q99986)

Seeded From UniProt

complete

enables

GO:0019901

protein kinase binding

PMID:22194607[10]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q99986

F

Seeded From UniProt

complete

enables

GO:0010385

double-stranded methylated DNA binding

PMID:24071584[11]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005730

nucleolus

PMID:24071584[11]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:21630459[13]

ECO:0007005

high throughput direct assay evidence used in manual assertion

C

part_of:(CL:0000019)

Seeded From UniProt

complete

part_of

GO:0000790

nuclear chromatin

PMID:19734898[12]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0000790

nuclear chromatin

PMID:24071584[11]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0000790

nuclear chromatin

PMID:22194607[10]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0000182

rDNA binding

PMID:24071584[11]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0000122

negative regulation of transcription by RNA polymerase II

PMID:19734898[12]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006334

nucleosome assembly

PMID:9714746[14]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

PMID:9714746[14]

ECO:0000303

author statement without traceable support used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0000786

nucleosome

PMID:9714746[14]

ECO:0000303

author statement without traceable support used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0006325

chromatin organization

PMID:21873635[15]

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[15]

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[15]

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

involved_in

GO:0007549

dosage compensation

PMID:15053874[16]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0001740

Barr body

PMID:11331621[17]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000052

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q02874
ensembl:ENSRNOP00000049143

C

Seeded From UniProt

complete

part_of

GO:0000786

nucleosome

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q02874
ensembl:ENSRNOP00000049143

C

Seeded From UniProt

complete

part_of

GO:0000785

chromatin

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q02874
ensembl:ENSRNOP00000049143

C

Seeded From UniProt

complete

enables

GO:1990841

promoter-specific chromatin binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9QZQ8
ensembl:ENSMUSP00000016081

F

Seeded From UniProt

complete

involved_in

GO:1902882

regulation of response to oxidative stress

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9QZQ8
ensembl:ENSMUSP00000016081

P

Seeded From UniProt

complete

involved_in

GO:1901837

negative regulation of transcription of nucleolar large rRNA by RNA polymerase I

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9QZQ8
ensembl:ENSMUSP00000016081

P

Seeded From UniProt

complete

enables

GO:0031492

nucleosomal DNA binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9QZQ8
ensembl:ENSMUSP00000016081

F

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9QZQ8
ensembl:ENSMUSP00000016081

C

Seeded From UniProt

complete

enables

GO:0003682

chromatin binding

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9QZQ8
ensembl:ENSMUSP00000016081

F

Seeded From UniProt

complete

part_of

GO:0000793

condensed chromosome

GO_REF:0000107

ECO:0000265

sequence orthology evidence used in automatic assertion

UniProtKB:Q9QZQ8
ensembl:ENSMUSP00000016081

C

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
InterPro:IPR021171

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
InterPro:IPR021171

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

involved_in

GO:0006334

nucleosome assembly

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR021171

P

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:1902883

negative regulation of response to oxidative stress

PMID:23022728[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:1902884

positive regulation of response to oxidative stress

PMID:23022728[1]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

part_of

GO:0001739

sex chromatin

PMID:19486527[8]

ECO:0000304

author statement supported by traceable reference used in manual assertion

C

Seeded From UniProt

complete

involved_in

GO:0006325

chromatin organization

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0156

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

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

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

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

Notes

References

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

  1. 1.0 1.1 1.2 Dardenne, E et al. (2012) Splicing switch of an epigenetic regulator by RNA helicases promotes tumor-cell invasiveness. Nat. Struct. Mol. Biol. 19 1139-46 PubMed GONUTS page
  2. Déjardin, J & Kingston, RE (2009) Purification of proteins associated with specific genomic Loci. Cell 136 175-86 PubMed GONUTS page
  3. 3.0 3.1 3.2 Ramamoorthy, M & Smith, S (2015) Loss of ATRX Suppresses Resolution of Telomere Cohesion to Control Recombination in ALT Cancer Cells. Cancer Cell 28 357-69 PubMed GONUTS page
  4. 4.0 4.1 4.2 Barrero, MJ et al. (2013) Macro histone variants are critical for the differentiation of human pluripotent cells. J. Biol. Chem. 288 16110-6 PubMed GONUTS page
  5. 5.0 5.1 5.2 5.3 5.4 Podrini, C et al. (2015) MacroH2A1 isoforms are associated with epigenetic markers for activation of lipogenic genes in fat-induced steatosis. FASEB J. 29 1676-87 PubMed GONUTS page
  6. 6.0 6.1 6.2 Gamble, MJ et al. (2010) The histone variant macroH2A1 marks repressed autosomal chromatin, but protects a subset of its target genes from silencing. Genes Dev. 24 21-32 PubMed GONUTS page
  7. 7.0 7.1 Mietton, F et al. (2009) Weak but uniform enrichment of the histone variant macroH2A1 along the inactive X chromosome. Mol. Cell. Biol. 29 150-6 PubMed GONUTS page
  8. 8.0 8.1 Souza, PP et al. (2009) The histone methyltransferase SUV420H2 and Heterochromatin Proteins HP1 interact but show different dynamic behaviours. BMC Cell Biol. 10 41 PubMed GONUTS page
  9. 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
  10. 10.0 10.1 10.2 10.3 10.4 10.5 Kim, W et al. (2012) Macro histone H2A1.2 (macroH2A1) protein suppresses mitotic kinase VRK1 during interphase. J. Biol. Chem. 287 5278-89 PubMed GONUTS page
  11. 11.0 11.1 11.2 11.3 11.4 11.5 11.6 11.7 11.8 Cong, R et al. (2014) macroH2A1 histone variant represses rDNA transcription. Nucleic Acids Res. 42 181-92 PubMed GONUTS page
  12. 12.0 12.1 12.2 12.3 12.4 12.5 Buschbeck, M et al. (2009) The histone variant macroH2A is an epigenetic regulator of key developmental genes. Nat. Struct. Mol. Biol. 16 1074-9 PubMed GONUTS page
  13. de Mateo, S et al. (2011) Proteomic characterization of the human sperm nucleus. Proteomics 11 2714-26 PubMed GONUTS page
  14. 14.0 14.1 14.2 Lee, Y et al. (1998) Isolation of cDNA clones encoding human histone macroH2A1 subtypes. Biochim. Biophys. Acta 1399 73-7 PubMed GONUTS page
  15. 15.0 15.1 15.2 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  16. Acín-Pérez, R et al. (2004) Respiratory complex III is required to maintain complex I in mammalian mitochondria. Mol. Cell 13 805-15 PubMed GONUTS page
  17. 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