H2az1 H2A.Z variant histone 1 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: H2az1provided by MGI
Official Full Name: H2A.Z variant histone 1provided by MGI
Primary source: MGI:MGI:1888388
See related: Ensembl:ENSMUSG00000037894 AllianceGenome:MGI:1888388
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: H2A.Z; H2afz; H2A.Z1; H2a.z-1
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 encodes a replication-independent member of the histone H2A family that is distinct from other members of the family. Studies in mice have shown that this particular histone is required for embryonic development and indicate that lack of functional histone H2A leads to embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
Expression: Broad expression in CNS E11.5 (RPKM 475.3), liver E14 (RPKM 375.3) and 24 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 G3; 3 63.94 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (137570248..137572683)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (137864487..137866922)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

H2A.Z is involved in premature aging and DSB repair initiation in muscle fibers.
Title: H2A.Z is involved in premature aging and DSB repair initiation in muscle fibers.
Homeostatic control of nuclear-encoded mitochondrial gene expression by the histone variant H2A.Z is essential for neuronal survival.
Title: Homeostatic control of nuclear-encoded mitochondrial gene expression by the histone variant H2A.Z is essential for neuronal survival.
The histone chaperone Anp32e regulates memory formation, transcription, and dendritic morphology by regulating steady-state H2A.Z binding in neurons.
Title: The histone chaperone Anp32e regulates memory formation, transcription, and dendritic morphology by regulating steady-state H2A.Z binding in neurons.
Structural basis of chromatin regulation by histone variant H2A.Z.
Title: Structural basis of chromatin regulation by histone variant H2A.Z.
A dual role for H2A.Z.1 in modulating the dynamics of RNA polymerase II initiation and elongation.
Title: A dual role for H2A.Z.1 in modulating the dynamics of RNA polymerase II initiation and elongation.
CpG Islands Shape the Epigenome Landscape.
Title: CpG Islands Shape the Epigenome Landscape.
Sex-specific effects of the histone variant H2A.Z on fear memory, stress-enhanced fear learning and hypersensitivity to pain.
Title: Sex-specific effects of the histone variant H2A.Z on fear memory, stress-enhanced fear learning and hypersensitivity to pain.
H2A.Z is dispensable for both basal and activated transcription in post-mitotic mouse muscles.
Title: H2A.Z is dispensable for both basal and activated transcription in post-mitotic mouse muscles.
H2A.Z.1 is a key regulator of gliogenesis because it interacts with ASF1a to regulate H3K56ac and then directly affects the expression of FOLR1, which acts as a signal-transducing component of the JAK-STAT signaling pathway.
Title: H2A.Z.1 crosstalk with H3K56-acetylation controls gliogenesis through the transcription of folate receptor.
Loss of histone H2A.Z (H2A.z) expression impairs neurogenesis.
Title: Brain-specific deletion of histone variant H2A.z results in cortical neurogenesis defects and neurodevelopmental disorder.

Submit: New GeneRIF Correction See all GeneRIFs (37)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

H2afz (e-PCR), detects polymorphism
- UniSTS:516683

MARC_6803-6804:992007476:3 (e-PCR)
- UniSTS:231274

GDB:451604 (e-PCR)
- UniSTS:157324

MARC_31601-31602:1045759847:1 (e-PCR)
- UniSTS:269206

RH126517 (e-PCR)
- UniSTS:209659

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II core promoter sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II core promoter sequence-specific DNA binding	ISO Inferred from Sequence Orthology more info
enables chromatin DNA binding	ISO Inferred from Sequence Orthology more info
enables nucleosomal DNA binding	IEA Inferred from Electronic Annotation more info
enables nucleosomal DNA binding	ISO Inferred from Sequence Orthology more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IEA Inferred from Electronic Annotation more info
enables structural constituent of chromatin	IBA Inferred from Biological aspect of Ancestor more info
enables structural constituent of chromatin	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cellular response to estradiol stimulus	IEA Inferred from Electronic Annotation more info
involved_in cellular response to estradiol stimulus	ISO Inferred from Sequence Orthology more info
involved_in cellular response to insulin stimulus	ISO Inferred from Sequence Orthology more info
involved_in chromatin organization	NAS Non-traceable Author Statement more info	PubMed
involved_in heterochromatin formation	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
NOT located_in Barr body	ISO Inferred from Sequence Orthology more info	PubMed
located_in euchromatin	IEA Inferred from Electronic Annotation more info
located_in euchromatin	ISO Inferred from Sequence Orthology more info
located_in heterochromatin	IEA Inferred from Electronic Annotation more info
located_in heterochromatin	ISO Inferred from Sequence Orthology more info
part_of nucleosome	IBA Inferred from Biological aspect of Ancestor more info
part_of nucleosome	ISO Inferred from Sequence Orthology more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info	PubMed

General protein information

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Preferred Names: histone H2A.Z

Names: H2A histone family, member Z

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.

mRNA and Protein(s)

NM_001316995.1 → NP_001303924.1 histone H2A.Z isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.

Source sequence(s)

AC125154

Consensus CDS

CCDS84676.1

UniProtKB/TrEMBL

Q3UA95

Related

ENSMUSP00000134059.2, ENSMUST00000174561.8

Conserved Domains (1) summary

PLN00154
Location:6 → 98

PLN00154; histone H2A; Provisional
NM_016750.3 → NP_058030.1 histone H2A.Z isoform 1

See identical proteins and their annotated locations for NP_058030.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC125154

Consensus CDS

CCDS38647.1

UniProtKB/Swiss-Prot

B2RXZ3, P0C0S6, Q3UA55, Q3UK43, Q68FD2

Related

ENSMUSP00000036907.8, ENSMUST00000041045.14

Conserved Domains (1) summary

PLN00154
Location:6 → 121

PLN00154; histone H2A; Provisional