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FLASH GENE

Symbol

HBG1

contributors: mct - updated : 25-08-2015

HGNC name	hemoglobin, gamma A
HGNC id	4831

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000559 3 - 584 NP_000550 16.1 147 - 1990 1699206

EXPRESSION

Type

widely

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 Digestive liver       highly Endocrine neuroendocrine pituitary     highly Hearing/Equilibrium ear inner cochlea   highly Lymphoid/Immune spleen       highly

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 Blood/Hematopoietic erythroblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	liver, spleen and bone marrow
	silenced 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

HOMOLOGY

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

text	oxygen transport

PATHWAY

metabolism

signaling

GATA1/ZFPM1/NuRD Pathway implicated in expression of HBG1

a component

heterodimer alpha gamma forming a heterotetramer alpha2 gamma2 in the fetal hemoglobin A type

INTERACTION

DNA

RNA

small molecule

protein	binding to alpha chain infetal hemoglobin
	KLF1 and KLF2 bind directly to the promoters of the HBE1 and HBG1, HBG2 genes
	BCL11A expression is activated by KLF1, leading to HBG1, HBG2 repression
	ZBTB7A transcription factor occupies fetal HBG1 genes and maintains the nucleosome density necessary for HBG1 gene silencing in adults

cell & other

REGULATION

Other

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

ASSOCIATED DISORDERS

corresponding disease(s)

HPFH

related resource

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

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS