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    HBZ hemoglobin subunit zeta [ Homo sapiens (human) ]

    Gene ID: 3050, updated on 10-Dec-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_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (152644..154503)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (146215..148144)
    RS_2024_09 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. Cloning and nucleotide sequence analysis of human embryonic zeta-globin cDNA. Cohen-Solal MM, et al. DNA, 1982. PMID 6963223
    2. Structure of the zeta chain of human embryonic hemoglobin. Clegg JB, et al. Proc Natl Acad Sci U S A, 1981 Oct. PMID 6171809, Free PMC Article
    3. [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
    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. Structural determinants of human ζ-globin mRNA stability. He Z, et al. J Hematol Oncol, 2014 Apr 21. PMID 24751163, Free PMC Article

    See all (51) 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)

    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 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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