H2AC1 H2A clustered histone 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: H2AC1provided by HGNC
Official Full Name: H2A clustered histone 1provided by HGNC
Primary source: HGNC:HGNC:18729
See related: Ensembl:ENSG00000164508 MIM:613499; AllianceGenome:HGNC:18729
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: H2AA; TH2A; H2AFR; HISTH2AA; HIST1H2AA; bA317E16.2
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 histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H2A family. Transcripts from this gene contain a palindromic termination element. [provided by RefSeq, Aug 2015]
Orthologs: mouse all
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Genomic context

Location:: 6p22.2

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (25726063..25726562, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (25591841..25592340, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (25726291..25726790, complement)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Findings show that serine-threonine-tyrosine kinase 1 (NOK) mediates glycolysis and nuclear pyruvate dehydrogenase complex (PDC) associated histone acetylation.
Title: NOK mediates glycolysis and nuclear PDC associated histone acetylation.
Data indicate that formalin-fixed, paraffin-embedded (FFPE) tissue processing may result in persistent chemical modifications of histones, which correspond in mass shift of important post-translational modifications (PTMs).
Title: Characterization of histone-related chemical modifications in formalin-fixed paraffin-embedded and fresh-frozen human pancreatic cancer xenografts using LC-MS/MS.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat peptides bind core histones H2A, H2B, H3 and H4, and Tat protein recruits histone acetyltransferases to the HIV-1 LTR promoter leading to acetylation of histones H3 and H4, derepressing chromatin structure and increasing NFkappaB responsiveness	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

HIST1H2BA__6542 (e-PCR)
- UniSTS:464488

NoName (e-PCR)
- UniSTS:481642

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nucleosomal DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables structural constituent of chromatin	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in chromosome, telomeric region	HDA more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in female germ cell nucleus	IEA Inferred from Electronic Annotation more info
part_of nucleosome	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	HDA more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: histone H2A type 1-A

Names: H2A histone family, member R; histone 1, H2aa; histone H2A/r; histone cluster 1 H2A family member a; histone cluster 1, H2aa

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.