MACROH2A1 (macroH2A.1 histone)

Gene

• Entrez ID: 9555
• Gene name: MacroH2A.1 histone
• Gene symbol: MACROH2A1
• Synonyms: H2A.y, H2A/y, H2AF12M, H2AFY, MACROH2A1.1, mH2A1, macroH2A1.2
• Chromosome: 5
• Chromosome location: 5q31.1
• Summary: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core hi

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19734898
GO:0000182	Function	RDNA binding	IDA	24071584
GO:0000228	Component	Nuclear chromosome	IDA	18936163
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000785	Component	Chromatin	IDA	19734898, 22194607, 24071584
GO:0000786	Component	Nucleosome	NAS	9714746
GO:0000793	Component	Condensed chromosome	IEA
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	19734898, 20008927
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	23595991
GO:0000979	Function	RNA polymerase II core promoter sequence-specific DNA binding	IDA	25526730
GO:0001739	Component	Sex chromatin	TAS	19486527
GO:0001740	Component	Barr body	IDA	11331621, 18936163
GO:0003677	Function	DNA binding	IBA	21873635
GO:0003677	Function	DNA binding	NAS	9714746
GO:0005515	Function	Protein binding	IPI	22391447, 22589551, 25416956, 25609649, 32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005654	Component	Nucleoplasm	IDA
GO:0005721	Component	Pericentric heterochromatin	IDA	19486527
GO:0005730	Component	Nucleolus	IDA	24071584
GO:0006334	Process	Nucleosome assembly	NAS	9714746
GO:0006342	Process	Chromatin silencing	IBA	21873635
GO:0007549	Process	Dosage compensation	IDA
GO:0010385	Function	Double-stranded methylated DNA binding	IDA	24071584
GO:0019216	Process	Regulation of lipid metabolic process	IMP	25526730
GO:0019899	Function	Enzyme binding	IPI	26373281
GO:0019901	Function	Protein kinase binding	IPI	22194607
GO:0030291	Function	Protein serine/threonine kinase inhibitor activity	IMP	22194607
GO:0031490	Function	Chromatin DNA binding	IDA	19734898, 24071584
GO:0031492	Function	Nucleosomal DNA binding	IDA	20008927
GO:0031492	Function	Nucleosomal DNA binding	ISS
GO:0033128	Process	Negative regulation of histone phosphorylation	IMP	22194607
GO:0034184	Process	Positive regulation of maintenance of mitotic sister chromatid cohesion	IDA	26373281
GO:0040029	Process	Regulation of gene expression, epigenetic	IMP	20008927
GO:0045618	Process	Positive regulation of keratinocyte differentiation	IMP	23595991
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IMP	19734898, 23595991, 24071584
GO:0045815	Process	Positive regulation of gene expression, epigenetic	IMP	25526730
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0051572	Process	Negative regulation of histone H3-K4 methylation	IMP	25526730
GO:0061086	Process	Negative regulation of histone H3-K27 methylation	IMP	25526730
GO:0061187	Process	Regulation of ribosomal DNA heterochromatin assembly	IMP	24071584
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071169	Process	Establishment of protein localization to chromatin	IMP	19734898
GO:0071901	Process	Negative regulation of protein serine/threonine kinase activity	IMP	22194607
GO:1901837	Process	Negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IGI	24071584
GO:1901837	Process	Negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	24071584
GO:1902750	Process	Negative regulation of cell cycle G2/M phase transition	IMP	22194607
GO:1902882	Process	Regulation of response to oxidative stress	IMP	23022728
GO:1903226	Process	Positive regulation of endodermal cell differentiation	IMP	23595991
GO:1904815	Process	Negative regulation of protein localization to chromosome, telomeric region	IDA	26373281
GO:1990841	Function	Promoter-specific chromatin binding	ISS

Other IDs

• MIM: 610054
• HGNC: 4740
• e!Ensembl: ENSG00000113648

Protein

• UniProt ID: O75367
• Protein name: Core histone macro-H2A.1 (Histone macroH2A1) (mH2A1) (Histone H2A.y) (H2A/y) (Medulloblastoma antigen MU-MB-50.205)
• Protein function: Variant histone H2A which replaces conventional H2A in a subset of nucleosomes where it represses transcription (PubMed:12718888, PubMed:15621527, PubMed:16428466). Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to t
• PDB: 1U35, 1ZR3, 1ZR5, 2F8N, 2FXK, 3HQH, 3HSV, 3IID, 3IIF, 3IVB, 5IIT, 5LNC, 7D3Y
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00125	Histone	2 → 88	Core histone H2A/H2B/H3/H4	Domain
  PF16211	Histone_H2A_C	89 → 123	C-terminus of histone H2A	Family
  PF01661	Macro	216 → 330	Macro domain	Domain

• Sequence:

  MSSRGGKKKSTKTSRSAKAGVIFPVGRMLRYIKKGHPKYRIGVGAPVYMAAVLEYLTAEI
  LELAGNAARDNKKGRVTPRHILLAVANDEELNQLLKGVTIASGGVLPNIHPELLAKKRGS
  KGKLEAIITPPPAKKAKSPSQKKPVSKKAGGKKGARKSKKKQGEVSKAASADSTTEGTPA
  DGFTVLSTKSLFLGQKLNLIHSEISNLAGFEVEAIINPTNADIDLKDDLGNTLEKKGGKE
  FVEAVLELRKKNGPLEVAGAAVSAGHGLPAKFVIHCNSPVWGADKCEELLEKTVKNCLAL
  ADDKKLKSIAFPSIGSGRNGFPKQTAAQLILKAISSYFVSTMSSSIKTVYFVLFDSESIG
  IYVQEMAKLDAN

• Sequence length: 372

Pathways

KEGG:

ATP-dependent chromatin remodeling
Necroptosis
Neutrophil extracellular trap formation
Alcoholism
Systemic lupus erythematosus

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557

Unknown
Disease name	Disease term	dbSNP ID	References
Brachydactyly with joint dysplasia	Synostosis, Carpal, with Dysplastic Elbow Joints and Brachydactyly		30711920
Brachydactyly-elbow wrist dysplasia syndrome	Brachydactyly-elbow wrist dysplasia syndrome	rs479632
Camptodactyly of fingers	Clinodactyly of the 5th finger