Selected-GenAtlas references | SOURCE | GeneCards | NCBI Gene | Swiss-Prot | Orphanet | Ensembl |
HGNC | UniGene | Nucleotide | OMIM | UCSC |
Home Page |
FLASH GENE |
Symbol | HBZ | contributors: - updated : 29-08-2006 |
HGNC name | hemoglobin, zeta |
HGNC id | 4835 |
|
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 |
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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 |
RNA |
TRANSCRIPTS | type | messenger |
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EXPRESSION |
Type | widely |
constitutive of |
expressed in | (based on citations) | ||||||||||||||||||||||||||||||||||||||||
organ(s) |
|
tissue |
|
cells |
|
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
| |
| |
|
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 | |
|
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 |