• Gene id: 9555

Gene Summary

• Gene Symbol: MACROH2A1   Gene   UCSC   Ensembl
• Aliases: H2A.y, H2A/y, H2AF12M, H2AFY, MACROH2A1.1, mH2A1, macroH2A1.2
• Gene name: macroH2A.1 histone
• Alternate names: core histone macro-H2A.1, H2A histone family member Y, histone H2A.y, histone macroH2A1, histone macroH2A1.1, histone macroH2A1.2, medulloblastoma antigen MU-MB-50.205,
• Gene location: 5q31.1 (135401997: 135334380)     Exons: 14     NC_000005.10
• Gene summary(Entrez): 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
• OMIM: 610054

Protein Summary

• Protein general information: O75367  
  • Name: Core histone macro H2A.1 (Histone macroH2A1) (mH2A1) (Histone H2A.y) (H2A/y) (Medulloblastoma antigen MU MB 50.205)
  • Length: 372  
  • Mass: 39617
  • Tissue specificity: Widely expressed. {ECO
• Sequence:

  MSSRGGKKKSTKTSRSAKAGVIFPVGRMLRYIKKGHPKYRIGVGAPVYMAAVLEYLTAEILELAGNAARDNKKGR
  VTPRHILLAVANDEELNQLLKGVTIASGGVLPNIHPELLAKKRGSKGKLEAIITPPPAKKAKSPSQKKPVSKKAG
  GKKGARKSKKKQGEVSKAASADSTTEGTPADGFTVLSTKSLFLGQKLNLIHSEISNLAGFEVEAIINPTNADIDL
  KDDLGNTLEKKGGKEFVEAVLELRKKNGPLEVAGAAVSAGHGLPAKFVIHCNSPVWGADKCEELLEKTVKNCLAL
  ADDKKLKSIAFPSIGSGRNGFPKQTAAQLILKAISSYFVSTMSSSIKTVYFVLFDSESIGIYVQEMAKLDAN

• Structural information:
  • Protein Domains: (2..11-)
    (/note="Histone-H2A)
    (184..37-)
    (/note="Macro-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00490"-)
  • Interpro: IPR021171  IPR009072  IPR002119  IPR007125  IPR032454   IPR002589  IPR035796  
  • Prosite: PS51154
  • CDD: cd00074 cd02904
  • PDB: 1U35 1ZR3 1ZR5 2F8N 2FXK 3HQH 3HSV 3IID 3IIF 3IVB 5IIT 5LNC
  • PDBsum: 1U35 1ZR3 1ZR5 2F8N 2FXK 3HQH 3HSV 3IID 3IIF 3IVB 5IIT 5LNC
  • DIP: 44283
  • STRING: ENSP00000423563
• Other Databases: GeneCards:  MACROH2A1  Malacards:  MACROH2A1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006342	chromatin silencing	IBA	biological process
GO:0003677	DNA binding	IBA	molecular function
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0006325	chromatin organization	IBA	biological process
GO:1902882	regulation of response to oxidative stress	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0000786	nucleosome	IEA	cellular component
GO:0006334	nucleosome assembly	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0000786	nucleosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007549	dosage compensation	IDA	biological process
GO:0001740	Barr body	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000793	condensed chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:1901837	negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IEA	biological process
GO:0000785	chromatin	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003682	chromatin binding	IEA	molecular function
GO:0031492	nucleosomal DNA binding	IEA	molecular function
GO:1902882	regulation of response to oxidative stress	IEA	biological process
GO:1990841	promoter-specific chromatin binding	IEA	molecular function
GO:0000786	nucleosome	IEA	cellular component
GO:0019899	enzyme binding	IPI	molecular function
GO:0034184	positive regulation of maintenance of mitotic sister chromatid cohesion	IDA	biological process
GO:1904815	negative regulation of protein localization to chromosome, telomeric region	IDA	biological process
GO:0000784	nuclear chromosome, telomeric region	HDA	cellular component
GO:0005721	pericentric heterochromatin	IDA	cellular component
GO:0001739	sex chromatin	TAS	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0010385	double-stranded methylated DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000182	rDNA binding	IDA	molecular function
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0031492	nucleosomal DNA binding	IDA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000228	nuclear chromosome	IDA	cellular component
GO:0001740	Barr body	IDA	cellular component
GO:0071901	negative regulation of protein serine/threonine kinase activity	IMP	biological process
GO:0030291	protein serine/threonine kinase inhibitor activity	IMP	molecular function
GO:0006334	nucleosome assembly	NAS	biological process
GO:1902750	negative regulation of cell cycle G2/M phase transition	IMP	biological process
GO:0071169	establishment of protein localization to chromatin	IMP	biological process
GO:0045814	negative regulation of gene expression, epigenetic	IMP	biological process
GO:0005634	nucleus	HDA	cellular component
GO:0003677	DNA binding	NAS	molecular function
GO:0070062	extracellular exosome	HDA	cellular component
GO:0000786	nucleosome	NAS	cellular component
GO:1901837	negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IGI	biological process
GO:1901837	negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IMP	biological process
GO:0061187	regulation of ribosomal DNA heterochromatin assembly	IMP	NOT|biological process
GO:0045814	negative regulation of gene expression, epigenetic	IMP	biological process
GO:0033128	negative regulation of histone phosphorylation	IMP	biological process
GO:0019901	protein kinase binding	IPI	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0045618	positive regulation of keratinocyte differentiation	IMP	biological process
GO:0051572	negative regulation of histone H3-K4 methylation	IMP	biological process
GO:0045815	positive regulation of gene expression, epigenetic	IMP	biological process
GO:0019216	regulation of lipid metabolic process	IMP	biological process
GO:0040029	regulation of gene expression, epigenetic	IMP	biological process
GO:0031492	nucleosomal DNA binding	ISS	molecular function
GO:1990841	promoter-specific chromatin binding	ISS	molecular function
GO:1903226	positive regulation of endodermal cell differentiation	IMP	biological process
GO:0045814	negative regulation of gene expression, epigenetic	IMP	biological process
GO:0061086	negative regulation of histone H3-K27 methylation	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa05034	Alcoholism
hsa04217	Necroptosis
hsa05322	Systemic lupus erythematosus

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881