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FLASH GENE

Symbol

HBB

contributors: mct - updated : 23-08-2017

HGNC name	hemoglobin, beta
HGNC id	4827

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type	restricted

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 erythroblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, perinatal, neonatal

Text	liver
	the most highly expressed globin gene around the time of birth

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 , tetramer , complex

HOMOLOGY

interspecies

homolog to rattus Hbb

Homologene

FAMILY

globin family

CATEGORY

transport carrier

SUBCELLULAR LOCALIZATION	extracellular
	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

GATA1/ZFPM1/NuRD Pathway implicated in expression of HBB

a component

heterodimer alpha beta forming a heterotetramer alpha2 beta2

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	binding to alpha chain
	2-3 diphosphoglycerate binding specifically to the beta chains of hemoglobin in the T state (desoxy)
	HIRA is not only critical for HBB expression but is also required for activation of the erythropoietic regulators KLF1 and GATA binding protein 1 (GATA1)
	amount of KLF1 expression strongly positively correlates with HBB mRNA and weakly positively correlates with BCL11A mRNA

cell & other

REGULATION

repressed by

SP1 during erythroid terminal differentiation

Other	autocatalytic RNA cleavage promoting transcription termination
	regulated by IKAROS (involved in the regulation of human globin gene switching) (Keys 2008)

ASSOCIATED DISORDERS

corresponding disease(s)

BTHAL , HBOA , SICA

related resource

A Syllabus of Human Hemoglobin Variants & A Syllabus of Thalassaemia Mutations

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   age-down regulated in the frontal cortex

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS