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.	221613
Gene name Gene Name - the full gene name approved by the HGNC.	H2A clustered histone 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	H2AC1
Synonyms (NCBI Gene) Gene synonyms aliases	H2AA, H2AFR, HIST1H2AA, HISTH2AA, TH2A, bA317E16.2
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6p22.2
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(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000781	Component	Chromosome, telomeric region	HDA	19135898
GO:0000786	Component	Nucleosome	IBA
GO:0000786	Component	Nucleosome	IEA
GO:0001674	Component	Female germ cell nucleus	IEA
GO:0003677	Function	DNA binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005694	Component	Chromosome	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0030527	Function	Structural constituent of chromatin	IBA
GO:0030527	Function	Structural constituent of chromatin	IEA
GO:0031507	Process	Heterochromatin formation	IBA
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
613499	18729	ENSG00000164508

Protein

UniProt ID

Q96QV6

Protein name

Histone H2A type 1-A (H2A-clustered histone 1) (Histone H2A/r)

Protein function

Core component of nucleosome. Nucleosomes wrap and compact DNA into chromatin, limiting DNA accessibility to the cellular machineries which require DNA as a template. Histones thereby play a central role in transcription regulation, DNA repair,

PDB

5GSU , 5GT0

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00125	Histone	2 → 91	Core histone H2A/H2B/H3/H4	Domain
PF16211	Histone_H2A_C	92 → 126	C-terminus of histone H2A	Family

Sequence

MSGRGKQGGKARAKSKSRSSRAGLQFPVGRIHRLLRKGNYAERIGAGAPVYLAAVLEYLT
AEILELAGNASRDNKKTRIIPRHLQLAIRNDEELNKLLGGVTIAQGGVLPNIQAVLLPKK
TESHHHKAQSK

Sequence length

131

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Necroptosis Neutrophil extracellular trap formation Alcoholism Systemic lupus erythematosus		HDACs deacetylate histones HATs acetylate histones RMTs methylate histone arginines UCH proteinases Ub-specific processing proteases Metalloprotease DUBs HCMV Early Events HCMV Late Events

Show/Hide Unknown Diseases (2)

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.
Breast Cancer	Breast cancer	N/A	N/A	GWAS
Neuroticism	Neuroticism	N/A	N/A	GWAS

H2AC1 (H2A clustered histone 1)