Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	221613
Gene name	H2A clustered histone 1
Gene symbol	H2AC1
Synonyms (NCBI Gene)	H2AAH2AFRHIST1H2AAHISTH2AATH2AbA317E16.2
Chromosome	6
Chromosome location	6p22.2
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

15 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

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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BREAST CANCER	—	GWAS catalog	29059683	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	29059683	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	38965376	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	29662059, 30643256	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	30643256	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	23263486	★★★★★ ★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	23263486	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Names
H2AC21	[]	13	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus","Ub-specific processing proteases","HCMV Late Events","HCMV Early Events","RMTs methylate histone arginines","UCH proteinases","Metalloprotease DUBs","HDACs deacetylate histones"]	[]
H2AC13	[]	13	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus","Ub-specific processing proteases","HCMV Late Events","HCMV Early Events","RMTs methylate histone arginines","UCH proteinases","Metalloprotease DUBs","HDACs deacetylate histones"]	[]
H2AC15	[]	13	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus","Ub-specific processing proteases","HCMV Late Events","HCMV Early Events","RMTs methylate histone arginines","UCH proteinases","Metalloprotease DUBs","HDACs deacetylate histones"]	[]
H2AC16	[]	13	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus","Ub-specific processing proteases","HCMV Late Events","HCMV Early Events","RMTs methylate histone arginines","UCH proteinases","Metalloprotease DUBs","HDACs deacetylate histones"]	[]
H2AC17	[]	13	["ATP-dependent chromatin remodeling","Necroptosis","Neutrophil extracellular trap formation","Alcoholism","Systemic lupus erythematosus","Ub-specific processing proteases","HCMV Late Events","HCMV Early Events","RMTs methylate histone arginines","UCH proteinases","Metalloprotease DUBs","HDACs deacetylate histones"]	[]

H2AC1 (H2A clustered histone 1)

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