H2AFJ H2A histone family, member J [Homo sapiens] - Gene

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Summary

Official Symbol: H2AFJprovided by HGNC
Official Full Name: H2A histone family, member Jprovided by HGNC
Primary source: HGNC:14456
See related: Ensembl:ENSG00000246705; HPRD:13622; Vega:OTTHUMG00000168736
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: H2AJ; MGC921; FLJ10903; FLJ52230
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 located on chromosome 12 and encodes a variant H2A histone. The protein is divergent at the C-terminus compared to the consensus H2A histone family member. [provided by RefSeq, Jul 2008]

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Genomic context

Location :: 12p12.3

Sequence :: Chromosome: 12; NC_000012.11 (14927270..14930936)

See H2AFJ in Epigenomics, MapViewer

Chromosome 12 - NC_000012.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

In this paper, the authors identified and cloned the H2AFJ gene on chr 12 and used it as a control for studying two macroH2A genes.
Title: Histone H2A variants and the inactive X chromosome: identification of a second macroH2A variant.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

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HIV-1 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 Protein Interaction Database

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description
BioGRID:120884	BioGRID:111822	RAD21		BioGRID	PubMed	Affinity Capture-Western
BioGRID:120884	BioGRID:113164	UBC		BioGRID	PubMed	Affinity Capture-MS

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
nucleosome assembly	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
chromosome	IEA Inferred from Electronic Annotation more info
nucleosome	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: histone H2A.J

Names: histone H2A.J; H2a/j

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NCBI Reference Sequences (RefSeq)

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.

mRNA and Protein(s)

NM_177925.2 → NP_808760.1 histone H2A.J

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.

Source sequence(s)

AC010168, AL133626, BC003602, DA808847

Consensus CDS

CCDS31752.1

UniProtKB/Swiss-Prot

Q9BTM1

Related

ENSP00000438553, OTTHUMP00000239324, ENST00000544848, OTTHUMT00000400845

Conserved Domains (1) summary

cd00074
Location:6 – 120
Blast Score: 447

H2A; Histone 2A; H2A is a subunit of the nucleosome. The nucleosome is an octamer containing two H2A, H2B, H3, and H4 subunits. The H2A subunit performs essential roles in maintaining structural integrity of the nucleosome, chromatin condensation, and binding ...

RNA

NR_027716.1 RNA Sequence

Description

Transcript Variant: This variant (2) lacks an alternate internal segment, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).

Source sequence(s)

AC010168, AL133626, BM689354, BQ438653, DB084616

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000012.11 Reference GRCh37.p5 Primary Assembly

Range

14927270..14930936

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000144.1 Alternate HuRef

Range

14696539..14700205

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_018267.2: Suppressed sequence

Description

NM_018267.2: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and it is a nonsense-mediated mRNA decay (NMD) candidate.

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC010168.6 (13174..16813)	None
genomic	CH471094.1	EAW96326.1
		EAW96327.1
mRNA	AK001765.1	BAA91894.1
mRNA	AK303301.1	BAG64375.1
mRNA	AL133626.1	None
mRNA	BC003602.1	AAH03602.1
mRNA	BM689354.1	None
mRNA	BQ438653.1	None
mRNA	BU594879.1	None
mRNA	DA808847.1	None
mRNA	DB084616.1	None
other-genetic	HQ447950.1	ADQ32434.1