• Gene id: 3015

Gene Summary

• Gene Symbol: H2AZ1   Gene   UCSC   Ensembl
• Aliases: H2A.Z-1, H2A.z, H2A/z, H2AFZ, H2AZ
• Gene name: H2A.Z variant histone 1
• Alternate names: histone H2A.Z, H2A histone family member Z, H2AZ histone,
• Gene location: 4q23 (99950274: 99948087)     Exons: 5     NC_000004.12
• Gene summary(Entrez): 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
• OMIM: 142763

Protein Summary

• Protein general information: P0C0S5  
  • Name: Histone H2A.Z (H2A/z)
  • Length: 128  
  • Mass: 13553
• Sequence:

  MAGGKAGKDSGKAKTKAVSRSQRAGLQFPVGRIHRHLKSRTTSHGRVGATAAVYSAAILEYLTAEVLELAGNASK
  DLKVKRITPRHLQLAIRGDEELDSLIKATIAGGGVIPHIHKSLIGKKGQQKTV

• Structural information:
  • Interpro: IPR009072  IPR002119  IPR007125  IPR032454  IPR032458  
  • Prosite: PS00046
  • CDD: cd00074
  • PDB: 1F66 3WA9 4CAY 4NFT 5B31 5B32 5B33 5CHL 5FUG 5Z30
  • PDBsum: 1F66 3WA9 4CAY 4NFT 5B31 5B32 5B33 5CHL 5FUG 5Z30
  • DIP: 38593
  • STRING: ENSP00000296417
• Other Databases: GeneCards:  H2AZ1  Malacards:  H2AZ1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006325	chromatin organization	IBA	biological process
GO:0006342	chromatin silencing	IBA	biological process
GO:0003677	DNA binding	IBA	molecular function
GO:0000790	nuclear chromatin	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000786	nucleosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0000786	nucleosome	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0001740	Barr body	IDA	NOT|cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0031492	nucleosomal DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	IDA	molecular function
GO:0000979	RNA polymerase II core promoter sequence-specific DNA binding	IDA	molecular function
GO:0005720	nuclear heterochromatin	IDA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0031490	chromatin DNA binding	IDA	molecular function
GO:0005719	nuclear euchromatin	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005719	nuclear euchromatin	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0071392	cellular response to estradiol stimulus	IMP	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005634	nucleus	HDA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05034	Alcoholism
hsa04217	Necroptosis
hsa05322	Systemic lupus erythematosus

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray