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FLASH GENE

Symbol

HBE1

contributors: mct - updated : 25-04-2012

HGNC name	hemoglobin, epsilon 1
HGNC id	4830

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	THBE thalassemia, with hemoglobin E
Location	11p15.4      Physical location : 5.289.579 - 5.291.373
Synonym symbol(s)	HBE

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	member of the HB-NA cluster (see HB-NA@)
STRUCTURE	1.79 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see HB-NA@
Authors	Keys (2008)

regionally located

5'- HBE1, HBG2, HBG1, HBD, HBB - 3'

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005330 3 - 816 NP_005321 16.07 147 - 1992 1363870

EXPRESSION

Type

expressed in	(based on citations)
organ(s)

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic erthrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, pregnancy

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

eight helical segments A to H, non helical N and C termini and non helical linkers

mono polymer

heteromer , dimer

HOMOLOGY

Homologene

FAMILY

globin family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION

transporting oxygen and carbon dioxide between the lung and tissues

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	oxygen transport

PATHWAY

metabolism

signaling

a component

heterodimer zeta epsilon, aplha epsilon forming a heterotetramer zeta2 epsilon2 (Gower 1), alpha2 epsilon2 (Gower2)

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	zeta chain in hemoglobin Gower 1
	alpha chain in hemoglobin Gower 2
	KLF1 and KLF2 bind directly to the promoters of the HBE1 and HBG1, HBG2 genes

cell & other

REGULATION

Other

regulated by IKAROS (involved in the regulation of human globin gene switching) (Keys 2008)

ASSOCIATED DISORDERS

corresponding disease(s)

THBE

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS