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HBZ hemoglobin subunit zeta [ Homo sapiens (human) ]

Gene ID: 3050, updated on 7-Apr-2024

Summary

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Official Symbol
HBZprovided by HGNC
Official Full Name
hemoglobin subunit zetaprovided by HGNC
Primary source
HGNC:HGNC:4835
See related
Ensembl:ENSG00000130656 MIM:142310; AllianceGenome:HGNC:4835
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
HBAZ; HBZ1; HBZ-T1
Summary
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 cluster that includes five functional genes and two pseudogenes. The order of genes is: 5' - zeta - pseudozeta - mu - pseudoalpha-1 - alpha-2 -alpha-1 - theta1 - 3'. [provided by RefSeq, Nov 2009]
Expression
Biased expression in testis (RPKM 1.3), bone marrow (RPKM 0.5) and 1 other tissue See more
Orthologs
mouse all
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Genomic context

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See HBZ in Genome Data Viewer
Location:
16p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (152644..154503)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (146215..148144)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (202643..204502)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene rhomboid 5 homolog 1 Neighboring gene uncharacterized LOC124903617 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:122843-123660 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:123661-124478 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:124479-125296 Neighboring gene Sharpr-MPRA regulatory region 13767 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:133607-134462 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10200 Neighboring gene N-methylpurine DNA glycosylase Neighboring gene alpha-globin locus control region Neighboring gene NPR3 like, GATOR1 complex subunit Neighboring gene uncharacterized LOC107983982 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:213784-214284 Neighboring gene hemoglobin subunit zeta pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Structural determinants of human ζ-globin mRNA stability. He Z, et al. J Hematol Oncol, 2014 Apr 21. PMID 24751163, Free PMC Article
  2. Nuclear localization of HTLV-I bZIP factor (HBZ) is mediated by three distinct motifs. Hivin P, et al. J Cell Sci, 2005 Apr 1. PMID 15755797
  3. Cloning and nucleotide sequence analysis of human embryonic zeta-globin cDNA. Cohen-Solal MM, et al. DNA, 1982. PMID 6963223
  4. [Human embryonic haemoglobins. The primary structure of the zeta chains (author's transl)]. Aschauer H, et al. Hoppe Seylers Z Physiol Chem, 1981 Aug. PMID 6179844
  5. [Human embryonic haemoglobins. Ac-Ser-Leu-Thr-is the N-terminal sequence of the zeta-chains (author's transl)]. Aschauer H, et al. Hoppe Seylers Z Physiol Chem, 1981 Dec. PMID 6172357

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Assessment of Bcl-xL, TAX, and HBZ Gene Expression in Adult T cell Leukemia/Lymphoma Patients.
    Title: Assessment of Bcl-xL, TAX, and HBZ Gene Expression in Adult T cell Leukemia/Lymphoma Patients.
  2. Data indicate a tetranucleotide 3'UTR motif that is required for the high-level accumulation of zeta-globin transcripts in cultured cells, and demonstrate that it prolongs their cytoplasmic half-lives.
    Title: Structural determinants of human ζ-globin mRNA stability.
  3. Chimeric zeta globin exhibits oxygen binding characteristics which fall within the range observed in adult human and human embryonic hemoglobins.
    Title: The role of beta chains in the control of the hemoglobin oxygen binding function: chimeric human/mouse proteins, structure, and function.
  4. Hb zeta(2)beta(2)(S) exhibits an O(2) affinity as well as a Hill coefficient, Bohr response, and allosteric properties in vitro that are suboptimally suited for physiological O(2) transport in vivo
    Title: Effect of zeta-globin substitution on the O2-transport properties of Hb S in vitro and in vivo.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to haptoglobin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables heme binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
enables organic acid binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables oxygen binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables oxygen carrier activity IBA
Inferred from Biological aspect of Ancestor
more info
  
contributes_to peroxidase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in carbon dioxide transport NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in cellular oxidant detoxification IEA
Inferred from Electronic Annotation
more info
  
involved_in hydrogen peroxide catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in oxygen transport IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
part_of haptoglobin-hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of hemoglobin complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of hemoglobin complex IPI
Inferred from Physical Interaction
more info
 PubMed 

General protein information

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Preferred Names
hemoglobin subunit zeta
Names
hemoglobin zeta chain
hemoglobin, zeta
zeta-globin

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.

Genomic

  1. NG_000006.1 RefSeqGene

    Range
    13718..15368
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_005332.3 → NP_005323.1  hemoglobin subunit zeta

    See identical proteins and their annotated locations for NP_005323.1

    Status: REVIEWED

    Source sequence(s)
    Z84721
    Consensus CDS
    CCDS10397.1
    UniProtKB/Swiss-Prot
    P02008, Q6IBF6
    UniProtKB/TrEMBL
    Q1W6G9
    Related
    ENSP00000252951.2, ENST00000252951.3
    Conserved Domains (1) summary
    cd08927
    Location:3 → 142
    Hb-alpha-like; Hemoglobin alpha, zeta, mu, theta, and related Hb subunits

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    152644..154503
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    146215..148144
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P02008.2 GenPept UniProtKB/Swiss-Prot:P02008

Gene LinkOut

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