H2AZ1 - H2A.Z variant histone 1 Gene

Homo sapiens

Also known as H2AZ; H2A.z; H2A/z; H2AFZ; H2A.Z-1

Gene ID: 3015 | Gene type: protein coding

About H2AZ1

Cytogenetic location: 4q23 Genomic coordinates (GRCh38): 4:99,948,088-99,950,275 (from NCBI)

This gene has 7 transcripts (splice variants), 203 orthologues and 27 paralogues. Ubiquitous expression in bone marrow (RPKM 195.5), lymph node (RPKM 145.5) and 24 other tissues.

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. [provided by RefSeq, Jul 2008]

H2AZ1 Products(1)

mRNA	Protein	Name
NM_002106.4	NP_002097.1	histone H2A.Z

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	19633671	GOA
enables RNA polymerase II core promoter sequence-specific DNA binding	IDA IDA: Inferred from direct assay	19633671	GOA
enables chromatin DNA binding	IDA IDA: Inferred from direct assay	19834540	GOA
enables nucleosomal DNA binding	IDA IDA: Inferred from direct assay	19633671	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	20473270	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cellular response to estradiol stimulus	IMP IMP: Inferred from mutant phenotype	23637611	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	19834540	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
NOT located in Barr body	IDA IDA: Inferred from direct assay	11331621	GOA
located in euchromatin	IDA IDA: Inferred from direct assay	19834540	GOA
located in heterochromatin	IDA IDA: Inferred from direct assay	19834540	GOA
part of nucleosome	IPI IPI: Inferred from physical interaction	24311584	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11331621	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

H2AZ1 Protein Structure

Histone

0
100
128 a.a.

Protein Preferred Names

Protein Names

histone H2A.Z

H2A histone family member Z

H2AZ1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	H2AZ1	P0C0S5	H2BC21	Homo sapiens	Q16778	Crosslink	30021884
Intra	H2AZ1	P0C0S5	H2BC21	Homo sapiens	Q16778	Anti Tag CoIP	35271311
Intra	H2AZ1	P0C0S5	DNM2	Homo sapiens	P50570-2	Validated Y2H	32814053
Intra	H2AZ1	P0C0S5	DNM2	Homo sapiens	P50570-2	Y2H Array	32814053
Intra	H2AZ1	P0C0S5	DNM2	Homo sapiens	P50570-2	Y2H Pooling	32814053
Intra	H2AZ1	P0C0S5	TOR1A	Homo sapiens	O14656-2	Y2H Array	32814053
Intra	H2AZ1	P0C0S5	TOR1A	Homo sapiens	O14656-2	Validated Y2H	32814053
Intra	H2AZ1	P0C0S5	TOR1A	Homo sapiens	O14656-2	Y2H Pooling	32814053
Intra	H2AZ1	P0C0S5	ZNHIT1	Homo sapiens	O43257	Anti Tag CoIP	20473270
Intra	H2AZ1	P0C0S5	ZNHIT1	Homo sapiens	O43257	TAP	24463511
Intra	H2AZ1	P0C0S5	ZNHIT1	Homo sapiens	O43257	Anti Tag CoIP	33961781
Intra	H2AZ1	P0C0S5	ZNHIT1	Homo sapiens	O43257	Anti Tag CoIP	35271311
Intra	H2AZ1	P0C0S5	H2BC5	Homo sapiens	P58876	Crosslink	30021884
Intra	H2AZ1	P0C0S5	H2BC5	Homo sapiens	P58876	Anti Tag CoIP	33961781
Intra	H2AZ1	P0C0S5	A2M	Homo sapiens	P01023	Validated Y2H	32814053
Intra	H2AZ1	P0C0S5	A2M	Homo sapiens	P01023	Y2H Array	32814053
Intra	H2AZ1	P0C0S5	A2M	Homo sapiens	P01023	Y2H Pooling	32814053
Intra	H2AZ1	P0C0S5	ACTR6	Homo sapiens	Q9GZN1	Anti Tag CoIP	33961781
Intra	H2AZ1	P0C0S5	ACTR6	Homo sapiens	Q9GZN1	TAP	24463511

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Testicular Spermatocytic Seminoma

Spermatocytic Seminoma

Floating-Harbor Syndrome

FLHS	Fhs
Pelletier-Leisti Syndrome	Short Stature With Delayed Bone Age, Expressive Language Delay, A Triangular Face With A Prominent Nose And Deep-Set Eyes
Leisti-Hollander-Rimoin Syndrome

Cartilage-Hair Hypoplasia

Metaphyseal Chondrodysplasia, Mckusick Type	CHH
Mckusick Type Metaphyseal Chondrodysplasia	Metaphyseal Dysplasia Without Hypotrichosis
Cartilage Hair Hypoplasia Like Syndrome	Metaphyseal Chondrodysplasia Mckusick Type
Chhv	Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only
Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis Or Immunodeficiency	Cartilage-Hair Syndrome
Mckusick'S Metaphyseal Chondrodysplasia Syndrome	Metaphyseal Chondrodysplasia, Recessive Type
Autosomal Recessive Metaphyseal Chondrodysplasia

Lymph Node Carcinoma

Lymph Node Cancer	Lymph Node Neoplasm
Neoplasm Of Lymph Node

Diffuse Large B-Cell Lymphoma

Dlbcl	Diffuse Large B-Cell Lymphoma, Not Otherwise Specified
Large B-Cell Diffuse Lymphoma	Lymphoma, Large B-Cell, Diffuse
Dlbcl - [Diffuse Large B-Cell Lymphoma]	Diffuse Large Beta Cell Lymphoma

Hyperoxaluria, Primary, Type I

Primary Hyperoxaluria Type 1	HP1
Glycolic Aciduria	Alanine-Glyoxylate Aminotransferase Deficiency
Hepatic Agt Deficiency	Oxalosis I
Primary Hyperoxaluria, Type I	Serine:Pyruvate Aminotransferase Deficiency
Hyperoxaluria, Primary, Type 1	Peroxisomal Alanine-Glyoxylate Aminotransferase Deficiency
Peroxisomal Alanine Glyoxylate Aminotransferase Deficiency	Serine Pyruvate Aminotransferase Deficiency
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Oxalosis 1
Hyperoxaluria Primary 1	Hyperoxaluria Primary Type I
Ph1	Primary Hyperoxaluria Type I
Oxalosis Type 1	2-Oxoglutarate Glyoxylate Carboligase Deficiency

Primary Hyperoxaluria

Hyperoxaluria	Hyperoxaluria, Primary
Oxalosis	Primary Oxalosis
Congenital Oxaluria	D-Glycerate Dehydrogenase Deficiency
Glyceric Aciduria	Glycolic Aciduria
Hepatic Agt Deficiency	Oxaluria, Primary
Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency	Primary Oxaluria
Hyperoxaluria Primary	Primary Hyperoxaluria Type 2
Primary Hyperoxaluria, Type I

Rapp-Hodgkin Syndrome

RHS	Anhidrotic Ectodermal Dysplasia With Cleft Lip/Palate
Ectodermal Dysplasia, Rapp-Hodgkin Type	Rapp-Hodgkin Ectodermal Dysplasia Syndrome
Ectodermal Dysplasia, Anhidrotic, With Cleft Lip/Palate	Ectodermal Dysplasia Syndrome, Rapp-Hodgkin Type
Edrh	Rapp-Hodgkin Ectodermal Dysplasia
Orofacial Cleft 8

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS05958	H2AZ1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	H2AZ1	VGNC	VGNC:83610
Rattus norvegicus	H2AZ1	RGD	RGD:621464
Felis catus	H2AZ1	VGNC	VGNC:109893
Mus musculus	H2AZ1	MGD	MGI:1888388
Macaca mulatta	H2AZ1	VGNC	VGNC:109696

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