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FLASH GENE
Symbol HBZ contributors: - updated : 29-08-2006
HGNC name hemoglobin, zeta
HGNC id 4835
Corresponding disease
ATHAL thalassemia, alpha
Location 16p13.3      Physical location : 202.853 - 204.504
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
text see HB-A@
STRUCTURE 1.00 kb     3 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence
motif repetitive sequence
text structure regulatory single-nucleotide polymorphism (rSNP) in a nongenic region between the alpha-globin genes and their upstream regulatory elements, creating a new promoterlike element that interfering with normal activation of all downstream alpha-like globin genes
MAPPING cloned Y linked Y status confirmed
Map pter - HBZ - HBZP - HBAP1 - HBAP2 - HBA2 - HBA1 HBA1 - HBQ1- cen
Physical map
LOC390662 16 similar to DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11; DEAD/H box-11 (CHL1-related helicase gene-1); yeast CHL1 homolog CXYorf1P 16p13.3 pseudogene of CXYorf1 POLR3K 16p13.3 polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa C16orf33 16p13.3 chromosome 16 open reading frame 33 RHBDF1 16p13.3 rhomboid family 1 (Drosophila) MPG 16p13.3 N-methylpurine-DNA glycosylase C16orf35 16p13.3 chromosome 16 open reading frame 35 HBZ 16p13.3 hemoglobin, zeta HBZP 16p13.3 hemoglobin, zeta pseudogene HBAP2 16p13.3 hemoglobin, alpha pseudogene 2 HBAP1 16p13.3 hemoglobin, alpha pseudogene 1 HBA2 16p13.3 hemoglobin, alpha 2 HBA1 16p13.3 hemoglobin, alpha 1 HBQ1 16p13.3 hemoglobin, theta 1 LUC7L 16p13.3 LUC7-like (S. cerevisiae) DKFZP761D0211 16p13.3 hypothetical protein DKFZp761D0211 PDIP 16p13.3 protein disulfide isomerase, pancreatic RGS11 16p13.3 regulator of G-protein signalling 11 ARHGDIG 16p13.3 Rho GDP dissociation inhibitor (GDI) gamma AXIN1 16p13.3 axin 1 MRPL28 16p13.3 mitochondrial ribosomal protein L28 TMEM8 16p13.3 transmembrane protein 8 (five membrane-spanning domains) LOC388197 16 hypothetical gene supported by BC028568 NME4 16p13 non-metastatic cells 4, protein expressed in DECR2 16p13.3 2,4-dienoyl CoA reductase 2, peroxisomal
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Lymphoid/Immune    highly
 spleen   highly
Reproductivefemale systemplacenta  highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Blood / Hematopoieticbone marrow   
Lymphoid    
cells
SystemCellPubmedSpeciesStageRna symbol
Blood/Hematopoieticerthrocyte
Blood/Hematopoieticerythroblast
cell lineage
cell lines
fluid/secretion
at STAGE
physiological period embryo, pregnancy
Text synthesized in the yolk sac of the early embryo
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • eight helical segments A to H
  • non helical N and C termini
  • non helical linkers
  • conjugated HemoP , Other
    mono polymer heteromer , tetramer
    HOMOLOGY
    interspecies ortholog to murine Hba-x
    homolog to C.elegans R03A10.1
    Homologene
    FAMILY globin family
    CATEGORY transport carrier
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    basic FUNCTION transporting oxygen and carbon dioxide between the lung and tissues
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cell to cell transport
    text oxygen transporter
    PATHWAY
    metabolism
    signaling
    a component
  • heterotetramer of two zeta chains and two epsilon chains in early embryonic hemoglobin gower-1
  • heterotetramer of two zeta chains and two gamma chains in hemoglobin portland-1
  • INTERACTION
    DNA
    RNA
    small molecule other,
    heme ferroporphyrin binding O2 and anchored to distal and proximal histidine of the HbA chain, embedded in the pocket between helices E and F
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) ATHAL
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS