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FLASH GENE

Symbol

HBA1

contributors: mct/ - updated : 21-12-2005

HGNC name	hemoglobin, alpha 1
HGNC id	4823

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	member of the HB-A cluster (see HB-A@)
STRUCTURE	0.84 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	pter - HBZ - HBZP - HBAP1 - HBAP2 - HBA2 - HBA1 HBA1 - cen

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000558 3 - 576 NP_000549 - 142 - -

EXPRESSION

Type	restricted

constitutive of

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 Blood/Hematopoietic erythroblast

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	seven helical segments A to H (D missing)
	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

a component

heterodimer aplha beta forming a heterotetramer alpha2 beta2, or alpha2 gamma2 (fetal) or alpha2 epsilon2 (embryonic)

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

beta chain in adult hemoglobin, delta chain in minor adult hemoglobin, gamma chain in fetal hemoglobin, epsilon in embryonic hemoglobin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ATHAL

related resource

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

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS