• Gene id: 3050

Gene Summary

• Gene Symbol: HBZ   Gene   UCSC   Ensembl
• Aliases: HBAZ, HBZ-T1, HBZ1
• Gene name: hemoglobin subunit zeta
• Alternate names: hemoglobin subunit zeta, hemoglobin zeta chain, hemoglobin, zeta, zeta-globin,
• Gene location: 16p13.3 (152643: 154502)     Exons: 3     NC_000016.10
• Gene summary(Entrez): Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene cluste
• OMIM: 142310

Protein Summary

• Protein general information: P02008  
  • Name: Hemoglobin subunit zeta (HBAZ) (Hemoglobin zeta chain) (Zeta globin)
  • Length: 142  
  • Mass: 15637
  • Tissue specificity: Detected in fetal erythrocytes (at protein level). {ECO
• Sequence:

  MSLTKTERTIIVSMWAKISTQADTIGTETLERLFLSHPQTKTYFPHFDLHPGSAQLRAHGSKVVAAVGDAVKSID
  DIGGALSKLSELHAYILRVDPVNFKLLSHCLLVTLAARFPADFTAEAHAAWDKFLSVVSSVLTEKYR

• Structural information:
  • Interpro: IPR000971  IPR009050  IPR012292  IPR002338  IPR002340  
  • Prosite: PS01033
  • CDD: cd08927
  • PDB: 1JEB 3W4U
  • PDBsum: 1JEB 3W4U
  • STRING: ENSP00000252951
• Other Databases: GeneCards:  HBZ  Malacards:  HBZ

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042744	hydrogen peroxide catabolic process	IBA	biological process
GO:0031838	haptoglobin-hemoglobin complex	IBA	cellular component
GO:0031720	haptoglobin binding	IBA	contributes to
GO:0019825	oxygen binding	IBA	molecular function
GO:0043177	organic acid binding	IBA	molecular function
GO:0020037	heme binding	IBA	molecular function
GO:0005833	hemoglobin complex	IBA	cellular component
GO:0005344	oxygen carrier activity	IBA	molecular function
GO:0004601	peroxidase activity	IBA	contributes to
GO:0005506	iron ion binding	IEA	molecular function
GO:0005833	hemoglobin complex	IEA	cellular component
GO:0020037	heme binding	IEA	molecular function
GO:0015671	oxygen transport	IEA	biological process
GO:0019825	oxygen binding	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005344	oxygen carrier activity	IEA	molecular function
GO:0015671	oxygen transport	IEA	biological process
GO:0005344	oxygen carrier activity	TAS	molecular function
GO:0005833	hemoglobin complex	TAS	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: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: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: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: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: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:0043249	erythrocyte maturation	IEA	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0098869	cellular oxidant detoxification	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R