Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	9555
Gene name Gene Name - the full gene name approved by the HGNC.	MacroH2A.1 histone
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	MACROH2A1
Synonyms (NCBI Gene) Gene synonyms aliases	H2A.y, H2A/y, H2AF12M, H2AFY, MACROH2A1.1, mH2A1, macroH2A1.2
Chromosome Chromosome number	5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	5q31.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(83)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IBA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
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:0000785	Component	Chromatin	IEA
GO:0000786	Component	Nucleosome	IBA
GO:0000786	Component	Nucleosome	IEA
GO:0000786	Component	Nucleosome	NAS	9714746
GO:0000793	Component	Condensed chromosome	IEA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	19734898, 20008927
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	23595991
GO:0001739	Component	Sex chromatin	TAS	19486527
GO:0001740	Component	Barr body	IDA	11331621, 18936163
GO:0001740	Component	Barr body	IEA
GO:0002082	Process	Regulation of oxidative phosphorylation	IEA
GO:0002082	Process	Regulation of oxidative phosphorylation	ISS
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	NAS	9714746
GO:0003682	Function	Chromatin binding	IEA
GO:0005515	Function	Protein binding	IPI	22391447, 22589551, 25416956, 25609649, 26373281, 32296183
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005721	Component	Pericentric heterochromatin	IDA	19486527
GO:0005730	Component	Nucleolus	IDA	24071584
GO:0006281	Process	DNA repair	IDA	21211722
GO:0006325	Process	Chromatin organization	IEA
GO:0006334	Process	Nucleosome assembly	IEA
GO:0006334	Process	Nucleosome assembly	NAS	9714746
GO:0009048	Process	Dosage compensation by inactivation of X chromosome	IDA	11331621
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:0030527	Function	Structural constituent of chromatin	IBA
GO:0030527	Function	Structural constituent of chromatin	IDA	21211722
GO:0030527	Function	Structural constituent of chromatin	IEA
GO:0031490	Function	Chromatin DNA binding	IDA	19734898, 24071584
GO:0031490	Function	Chromatin DNA binding	IEA
GO:0031492	Function	Nucleosomal DNA binding	IDA	20008927
GO:0031492	Function	Nucleosomal DNA binding	IEA
GO:0031492	Function	Nucleosomal DNA binding	ISS
GO:0031507	Process	Heterochromatin formation	IBA
GO:0034184	Process	Positive regulation of maintenance of mitotic sister chromatid cohesion	IDA	26373281
GO:0040029	Process	Epigenetic regulation of gene expression	IMP	20008927
GO:0045618	Process	Positive regulation of keratinocyte differentiation	IEA
GO:0045618	Process	Positive regulation of keratinocyte differentiation	IMP	23595991
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IEA
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IMP	19734898, 23595991, 24071584
GO:0045815	Process	Transcription initiation-coupled chromatin remodeling	IMP	25526730
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0061187	Process	Regulation of rDNA heterochromatin formation	IMP	24071584
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070212	Process	Protein poly-ADP-ribosylation	IDA	15674325
GO:0071169	Process	Establishment of protein localization to chromatin	IEA
GO:0071169	Process	Establishment of protein localization to chromatin	IMP	19734898
GO:0072570	Function	ADP-D-ribose binding	IDA	15902274
GO:0090734	Component	Site of DNA damage	IDA	21211722
GO:0160002	Function	ADP-D-ribose modification-dependent protein binding	IEA
GO:0160002	Function	ADP-D-ribose modification-dependent protein binding	ISS
GO:0160004	Function	Poly-ADP-D-ribose modification-dependent protein binding	ISS
GO:1901837	Process	Negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IBA
GO:1901837	Process	Negative regulation of transcription of nucleolar large rRNA by RNA polymerase I	IEA
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:1902688	Process	Regulation of NAD metabolic process	IEA
GO:1902688	Process	Regulation of NAD metabolic process	ISS
GO:1902750	Process	Negative regulation of cell cycle G2/M phase transition	IMP	22194607
GO:1902882	Process	Regulation of response to oxidative stress	IEA
GO:1902882	Process	Regulation of response to oxidative stress	IMP	23022728
GO:1902883	Process	Negative regulation of response to oxidative stress	IMP	23022728
GO:1902884	Process	Positive 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	IEA
GO:1990841	Function	Promoter-specific chromatin binding	ISS

MIM	HGNC	e!Ensembl
610054	4740	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

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:9714746}.

Sequence

MSSRGGKKKSTKTSRSAKAGVIFPVGRMLRYIKKGHPKYRIGVGAPVYMAAVLEYLTAEI
LELAGNAARDNKKGRVTPRHILLAVANDEELNQLLKGVTIASGGVLPNIHPELLAKKRGS
KGKLEAIITPPPAKKAKSPSQKKPVSKKAGGKKGARKSKKKQGEVSKAASADSTTEGTPA
DGFTVLSTKSLFLGQKLNLIHSEISNLAGFEVEAIINPTNADIDLKDDLGNTLEKKGGKE
FVEAVLELRKKNGPLEVAGAAVSAGHGLPAKFVIHCNSPVWGADKCEELLEKTVKNCLAL
ADDKKLKSIAFPSIGSGRNGFPKQTAAQLILKAISSYFVSTMSSSIKTVYFVLFDSESIG
IYVQEMAKLDAN

Sequence length

372

Interactions

View interactions

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

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Brachydactyly-Elbow Wrist Dysplasia Syndrome	brachydactyly-elbow wrist dysplasia syndrome	N/A	N/A	GenCC

Show/Hide Text Mining Associations (14)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Breast Neoplasms	Associate	21844227, 24911873
Carcinoma	Associate	25188299
Carcinoma Hepatocellular	Associate	33858382, 34899687, 35472308
Colorectal Neoplasms	Inhibit	22542848
Inflammation	Associate	37852977
Leukemia Myeloid Acute	Associate	29666008
Mammary Neoplasms Animal	Associate	35362516
Myelodysplastic Syndromes	Associate	28436936, 37852977
Neoplasm Metastasis	Associate	22542848, 35362516
Neoplasms	Associate	21030442, 21844227, 29249653, 33858382, 34899687, 35362516
Neoplasms	Inhibit	25306110
Non alcoholic Fatty Liver Disease	Associate	36264206
Prostatic Neoplasms	Associate	28131897
Triple Negative Breast Neoplasms	Associate	24911873

MACROH2A1 (macroH2A.1 histone)