HBZ hemoglobin subunit zeta [Homo sapiens (human)] - Gene

Summary

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

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_000016.10 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: 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.

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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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

REN94896 (e-PCR)
- UniSTS:419694

REN94897 (e-PCR)
- UniSTS:419695

REN94898 (e-PCR)
- UniSTS:419696

REN94899 (e-PCR)
- UniSTS:419697

REN94900 (e-PCR)
- UniSTS:419698

REN94901 (e-PCR)
- UniSTS:419699

REN94902 (e-PCR)
- UniSTS:419700

REN94903 (e-PCR)
- UniSTS:419701

ECD12716 (e-PCR)
- UniSTS:293749

REN94904 (e-PCR)
- UniSTS:419702

REN94905 (e-PCR)
- UniSTS:419703

ECD03215 (e-PCR)
- UniSTS:284300

ECD03744 (e-PCR)
- UniSTS:284824

stSG608905 (e-PCR)
- UniSTS:448427

ECD03321 (e-PCR)
- UniSTS:284406

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 more info	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

NG_000006.1 RefSeqGene

Range

13718..15368

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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