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FLASH GENE

Symbol

HBZ

contributors: - updated : 29-08-2006

HGNC name	hemoglobin, zeta
HGNC id	4835

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

EXPRESSION

Type

widely

constitutive of

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Lymphoid/Immune         highly   spleen       highly Reproductive female system placenta     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic bone marrow       Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erthrocyte Blood/Hematopoietic erythroblast

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